X	209702	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLCXD1:NM_018390:exon6:c.G550A:p.E184K,;ANNO=splicing:PLCXD1
X	224400	.	C	T	100	PASS	AC=101;STUDIES=9;MAC=101;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GTPBP6:NM_012227:exon4:c.G587A:p.R196Q,;ANNO=splicing:GTPBP6
X	299513	.	C	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PPP2R3B:NM_013239:exon11:c.G1470C:p.R490S,;ANNO=splicing:PPP2R3B
X	307969	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PPP2R3B:NM_013239:exon4:c.G717C:p.Q239H,;ANNO=splicing:PPP2R3B
X	595354	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SHOX:NM_000451:exon3:c.G279T:p.G93G,SHOX:NM_006883:exon3:c.G279T:p.G93G,;ANNO=splicing:SHOX
X	601612	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SHOX:NM_000451:exon4:c.A543C:p.K181N,SHOX:NM_006883:exon4:c.A543C:p.K181N,;ANNO=splicing:SHOX
X	1321404	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CRLF2:NM_001012288:exon3:c.G15A:p.L5L,CRLF2:NM_022148:exon4:c.G351A:p.L117L,;ANNO=splicing:CRLF2
X	1331448	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CRLF2(NM_022148:c.79+1G>A)
X	1554587	.	C	T	100	PASS	AC=34;STUDIES=8;MAC=34;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ASMTL:NM_001173473:exon4:c.G164A:p.R55Q,ASMTL:NM_004192:exon4:c.G338A:p.R113Q,ASMTL:NM_001173474:exon3:c.G290A:p.R97Q,;ANNO=splicing:ASMTL
X	1571642	.	G	C	100	PASS	AC=28;STUDIES=4;MAC=28;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ASMTL:NM_004192:exon1:c.C92G:p.A31G,ASMTL:NM_001173474:exon1:c.C92G:p.A31G,;ANNO=splicing:ASMTL
X	1748834	.	T	C	100	PASS	AC=31;STUDIES=10;MAC=31;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ASMT(NM_004043:c.562+2T>C,NM_001171038:c.562+2T>C,NM_001171039:c.562+2T>C)
X	2632463	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CD99:NM_002414:exon2:c.A68G:p.D23G,CD99:NM_001122898:exon2:c.A68G:p.D23G,;ANNO=splicing:CD99
X	2638398	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CD99:NM_002414:exon5:c.C195T:p.D65D,CD99:NM_001122898:exon4:c.C147T:p.D49D,;ANNO=splicing:CD99
X	2638464	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CD99:NM_002414:exon5:c.C261T:p.S87S,CD99:NM_001122898:exon4:c.C213T:p.S71S,;ANNO=splicing:CD99
X	2644302	.	C	T	100	PASS	AC=2378;STUDIES=16;MAC=2378;MAF=0.126;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CD99:NM_002414:exon8:c.C363T:p.A121A,CD99:NM_001122898:exon7:c.C315T:p.A105A,;ANNO=splicing:CD99
X	2715401	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:XG:NM_001141919:exon7:c.G373A:p.G125R,XG:NM_175569:exon7:c.G373A:p.G125S,XG:NM_001141920:exon7:c.G376A:p.G126S,;ANNO=splicing:XG
X	2773196	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GYG2:NM_001184703:exon6:c.G580A:p.G194R,GYG2:NM_001079855:exon5:c.G487A:p.G163R,GYG2:NM_001184702:exon5:c.G487A:p.G163R,GYG2:NM_001184704:exon4:c.G22A:p.G8R,GYG2:NM_003918:exon6:c.G580A:p.G194R,;ANNO=splicing:GYG2
X	7177812	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STS:NM_000351:exon5:c.C820T:p.R274W,;ANNO=splicing:STS
X	8766400	.	C	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:FAM9A:NM_174951:exon4:c.G341C:p.G114A,FAM9A:NM_001171186:exon4:c.G341C:p.G114A,;ANNO=splicing:FAM9A
X	9900909	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SHROOM2:NM_001649:exon6:c.A3586G:p.R1196G,;ANNO=splicing:SHROOM2
X	10180692	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CLCN4:NM_001830:exon10:c.C1575T:p.L525L,;ANNO=splicing:CLCN4
X	11197422	.	A	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ARHGAP6:NM_013423:exon7:c.T871A:p.L291M,ARHGAP6:NM_013427:exon7:c.T1480A:p.L494M,ARHGAP6:NM_006125:exon7:c.T1480A:p.L494M,;ANNO=splicing:ARHGAP6
X	13607676	.	G	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EGFL6:NM_001167890:exon2:c.G76C:p.A26P,EGFL6:NM_015507:exon2:c.G76C:p.A26P,;ANNO=splicing:EGFL6
X	13797938	.	G	A	100	PASS	AC=97;STUDIES=5;MAC=97;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GPM6B:NM_001001994:exon4:c.C519T:p.Y173Y,GPM6B:NM_005278:exon4:c.C576T:p.Y192Y,GPM6B:NM_001001995:exon5:c.C696T:p.Y232Y,GPM6B:NM_001001996:exon5:c.C696T:p.Y232Y,;ANNO=splicing:GPM6B
X	15333546	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ASB11(NM_001201583:c.181+1G>A,NM_080873:c.181+1G>A)
X	15408373	.	C	T	100	PASS	AC=80;STUDIES=5;MAC=80;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PIR:NM_003662:exon9:c.G694A:p.D232N,PIR:NM_001018109:exon9:c.G694A:p.D232N,;ANNO=splicing:PIR
X	15864026	.	A	G	100	PASS	AC=143;STUDIES=7;MAC=143;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:AP1S2:NM_003916:exon3:c.T288C:p.S96S,;ANNO=splicing:AP1S2
X	16669120	.	A	G	100	PASS	AC=102;STUDIES=4;MAC=102;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:S100G
X	16669123	.	C	T	100	PASS	AC=366;STUDIES=8;MAC=366;MAF=0.061;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=splicing:S100G
X	16672528	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:S100G:NM_004057:exon3:c.G136C:p.G46R,;ANNO=splicing:S100G
X	17710587	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NHS:NM_001136024:exon3:c.C320T:p.T107M,NHS:NM_198270:exon3:c.C851T:p.T284M,;ANNO=splicing:NHS
X	18947424	.	C	T	100	PASS	AC=59;STUDIES=6;MAC=59;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PHKA2:NM_000292:exon13:c.G1246A:p.G416R,;ANNO=splicing:PHKA2
X	19389462	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:MAP3K15(NM_001001671:c.3294+1G>C);ANNO=splicing:MAP3K15(NM_001001671:c.3294+1G>A)
X	19433376	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MAP3K15(NM_001001671:c.1439-1G>T)
X	21761868	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SMPX:NM_014332:exon3:c.G132A:p.E44E,;ANNO=splicing:SMPX
X	21990015	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SMS:NM_004595:exon3:c.C171T:p.S57S,;ANNO=splicing:SMS
X	21995179	.	A	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:SMS:NM_004595:exon5:c.A330G:p.R110R,;ANNO=splicing:SMS
X	23723711	.	C	G	100	PASS	AC=445;STUDIES=15;MAC=445;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACOT9:NM_001037171:exon13:c.G934C:p.E312Q,ACOT9:NM_001033583:exon12:c.G907C:p.E303Q,;ANNO=splicing:ACOT9
X	23928535	.	C	T	100	PASS	AC=22;STUDIES=4;MAC=22;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CXorf58:NM_152761:exon2:c.C116T:p.S39L,CXorf58:NM_001169574:exon2:c.C116T:p.S39L,;ANNO=splicing:CXorf58
X	23933912	.	G	A	100	PASS	AC=172;STUDIES=13;MAC=172;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CXorf58(NM_152761:c.311+1G>A,NM_001169574:c.311+1G>A)
X	31196048	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DMD(NM_004013:c.2882+1G>A,NM_004009:c.10250+1G>A,NM_004014:c.2075+1G>A,NM_004021:c.2882+1G>A,NM_004015:c.1058+1G>A,NM_004006:c.10262+1G>A,NM_004010:c.9893+1G>A,NM_004011:c.6239+1G>A,NM_000109:c.10238+1G>A,NM_004012:c.6230+1G>A,NM_004016:c.1058+1G>A,NM_004007:c.9893+1G>A)
X	31284928	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DMD:NM_004015:exon1:c.G19A:p.G7S,DMD:NM_004018:exon1:c.G19A:p.G7S,DMD:NM_004017:exon1:c.G19A:p.G7S,DMD:NM_004016:exon1:c.G19A:p.G7S,DMD:NM_004019:exon1:c.G19A:p.G7S,;ANNO=splicing:DMD
X	31341774	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DMD:NM_004021:exon19:c.G1785A:p.T595T,DMD:NM_004011:exon34:c.G5142A:p.T1714T,DMD:NM_004023:exon19:c.G1785A:p.T595T,DMD:NM_004006:exon62:c.G9165A:p.T3055T,DMD:NM_004007:exon61:c.G8796A:p.T2932T,DMD:NM_000109:exon62:c.G9141A:p.T3047T,DMD:NM_004014:exon8:c.G978A:p.T326T,DMD:NM_004020:exon19:c.G1785A:p.T595T,DMD:NM_004009:exon62:c.G9153A:p.T3051T,DMD:NM_004010:exon62:c.G8796A:p.T2932T,DMD:NM_004022:exon19:c.G1785A:p.T595T,DMD:NM_004013:exon19:c.G1785A:p.T595T,DMD:NM_004012:exon34:c.G5133A:p.T1711T,;ANNO=splicing:DMD
X	31893307	.	T	G	100	PASS	AC=3316;STUDIES=16;MAC=3316;MAF=0.207;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DMD(NM_004009:c.7083+1A>C,NM_004006:c.7095+1A>C,NM_004010:c.6726+1A>C,NM_004011:c.3072+1A>C,NM_000109:c.7071+1A>C,NM_004012:c.3063+1A>C,NM_004007:c.6726+1A>C)
X	32429867	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DMD(NM_004009:c.4221+2C>T,NM_004006:c.4233+2C>T,NM_004010:c.3864+2C>T,NM_004011:c.210+2C>T,NM_000109:c.4209+2C>T,NM_004012:c.201+2C>T,NM_004007:c.3864+2C>T)
X	32472777	.	A	T	100	PASS	AC=22;STUDIES=3;MAC=22;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DMD(NM_004009:c.3591+2T>A,NM_004006:c.3603+2T>A,NM_004010:c.3234+2T>A,NM_000109:c.3579+2T>A,NM_004007:c.3234+2T>A)
X	32536126	.	T	C	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DMD:NM_004006:exon18:c.A2291G:p.N764S,DMD:NM_004007:exon17:c.A1922G:p.N641S,DMD:NM_000109:exon18:c.A2267G:p.N756S,DMD:NM_004009:exon18:c.A2279G:p.N760S,DMD:NM_004010:exon18:c.A1922G:p.N641S,;ANNO=splicing:DMD
X	32591647	.	G	A	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DMD:NM_004006:exon15:c.C1812T:p.A604A,DMD:NM_004007:exon14:c.C1443T:p.A481A,DMD:NM_000109:exon15:c.C1788T:p.A596A,DMD:NM_004009:exon15:c.C1800T:p.A600A,DMD:NM_004010:exon15:c.C1443T:p.A481A,;ANNO=splicing:DMD
X	35993789	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CXorf22:NM_152632:exon15:c.G2472A:p.K824K,;ANNO=splicing:CXorf22
X	37700357	.	C	G	100	PASS	AC=45;STUDIES=4;MAC=45;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:DYNLT3:NM_006520:exon4:c.G198C:p.V66V,;ANNO=splicing:DYNLT3
X	37953548	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SYTL5:NM_138780:exon8:c.G832A:p.E278K,SYTL5:NM_001163334:exon7:c.G832A:p.E278K,SYTL5:NM_001163335:exon9:c.G832A:p.E278K,;ANNO=splicing:SYTL5
X	37955487	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SYTL5:NM_138780:exon9:c.G1062C:p.K354N,SYTL5:NM_001163334:exon8:c.G1062C:p.K354N,SYTL5:NM_001163335:exon10:c.G1062C:p.K354N,;ANNO=splicing:SYTL5
X	37966024	.	C	T	100	PASS	AC=151;STUDIES=15;MAC=151;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYTL5:NM_138780:exon11:c.C1334T:p.A445V,SYTL5:NM_001163334:exon11:c.C1400T:p.A467V,SYTL5:NM_001163335:exon12:c.C1334T:p.A445V,;ANNO=splicing:SYTL5
X	38176717	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RPGR:NM_000328:exon6:c.G471A:p.E157E,RPGR:NM_001034853:exon6:c.G471A:p.E157E,;ANNO=splicing:RPGR
X	38182653	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RPGR:NM_000328:exon2:c.C153T:p.T51T,RPGR:NM_001034853:exon2:c.C153T:p.T51T,;ANNO=splicing:RPGR
X	38182776	.	A	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:RPGR:NM_000328:exon2:c.T30A:p.D10E,RPGR:NM_001034853:exon2:c.T30A:p.D10E,;ANNO=splicing:RPGR
X	38240681	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OTC:NM_000531:exon4:c.C385T:p.R129C,;ANNO=splicing:OTC
X	38533570	.	C	T	100	PASS	AC=334;STUDIES=10;MAC=334;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TSPAN7:NM_004615:exon4:c.C441T:p.S147S,;ANNO=splicing:TSPAN7
X	41075904	.	C	T	100	PASS	AC=34;STUDIES=13;MAC=34;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:USP9X:NM_001039590:exon35:c.C6084T:p.P2028P,USP9X:NM_001039591:exon35:c.C6084T:p.P2028P,;ANNO=splicing:USP9X
X	41394210	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CASK:NM_001126054:exon22:c.T2088C:p.D696D,CASK:NM_003688:exon23:c.T2157C:p.D719D,CASK:NM_001126055:exon21:c.T2085C:p.D695D,;ANNO=splicing:CASK
X	46322727	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:ZNF673:NM_001129899:exon5:c.A237G:p.A79A,ZNF673:NM_001129900:exon5:c.A237G:p.A79A,ZNF673:NM_017776:exon5:c.A237G:p.A79A,ZNF673:NM_001129898:exon5:c.A237G:p.A79A,;ANNO=splicing:ZNF673
X	46513045	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC9A7:NM_032591:exon8:c.A1143T:p.T381T,;ANNO=splicing:SLC9A7
X	47062534	.	G	A	100	PASS	AC=2077;STUDIES=17;MAC=2077;MAF=0.122;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UBA1:NM_153280:exon13:c.G1340A:p.R447H,UBA1:NM_003334:exon13:c.G1340A:p.R447H,;ANNO=splicing:UBA1
X	47426039	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARAF:NM_001654:exon7:c.C559T:p.P187S,;ANNO=splicing:ARAF
X	48054291	.	C	T	100	PASS	AC=24;STUDIES=3;MAC=24;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:SSX5(NM_175723:c.69-1G>A,NM_021015:c.192-1G>A)
X	48318119	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC38A5:NM_033518:exon15:c.C1212T:p.I404I,;ANNO=splicing:SLC38A5
X	48321284	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC38A5:NM_033518:exon9:c.G573A:p.L191L,;ANNO=splicing:SLC38A5
X	48336905	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FTSJ1:NM_177434:exon2:c.G190A:p.G64R,FTSJ1:NM_012280:exon3:c.G190A:p.G64R,FTSJ1:NM_177439:exon4:c.G190A:p.G64R,;ANNO=splicing:FTSJ1
X	48340102	.	C	T	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FTSJ1:NM_177434:exon8:c.C654T:p.Y218Y,FTSJ1:NM_012280:exon9:c.C654T:p.Y218Y,FTSJ1:NM_177439:exon10:c.C654T:p.Y218Y,;ANNO=splicing:FTSJ1
X	48341414	.	C	T	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:FTSJ1
X	48549499	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:WAS:NM_000377:exon12:c.C1455T:p.D485D,;ANNO=splicing:WAS
X	48557293	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SUV39H1:NM_003173:exon2:c.G20A:p.G7D,;ANNO=splicing:SUV39H1
X	48661191	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HDAC6:NM_006044:exon2:c.C92T:p.S31L,;ANNO=splicing:HDAC6
X	49061826	.	A	G	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CACNA1F:NM_005183:exon48:c.T5705C:p.V1902A,;ANNO=splicing:CACNA1F
X	49103192	.	G	A	100	PASS	AC=16;STUDIES=6;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC22:NM_014008:exon7:c.G715A:p.E239K,;ANNO=splicing:CCDC22
X	49105970	.	G	A	100	PASS	AC=93;STUDIES=13;MAC=93;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC22:NM_014008:exon15:c.G1636A:p.D546N,;ANNO=splicing:CCDC22
X	49113312	.	G	A	100	PASS	AC=583;STUDIES=15;MAC=583;MAF=0.036;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FOXP3:NM_014009:exon6:c.C543T:p.S181S,FOXP3:NM_001114377:exon5:c.C438T:p.S146S,;ANNO=splicing:FOXP3
X	49173641	.	T	G	100	PASS	AC=49;STUDIES=14;MAC=49;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:GAGE10(NM_001098413:c.202-1T>G)
X	49179755	.	G	A	100	PASS	AC=5924;STUDIES=14;MAC=5924;MAF=0.479;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:GAGE12J:NM_001098406:exon2:c.G83A:p.R28Q,;ANNO=splicing:GAGE12J
X	49179758	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:GAGE12J(NM_001098406:c.84+2T>C)
X	49236822	.	G	T	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GAGE2A,GAGE2B,GAGE2C,GAGE2E,GAGE8
X	49455976	.	C	T	100	PASS	AC=51;STUDIES=11;MAC=51;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PAGE1:NM_003785:exon4:c.G168A:p.G56G,;ANNO=splicing:PAGE1
X	49459381	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PAGE1
X	50089805	.	G	A	100	PASS	AC=60;STUDIES=14;MAC=60;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCNB3:NM_033670:exon5:c.G497A:p.R166K,CCNB3:NM_033031:exon9:c.G3809A:p.R1270K,;ANNO=splicing:CCNB3
X	50125600	.	G	A	100	PASS	AC=110;STUDIES=5;MAC=110;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DGKK:NM_001013742:exon18:c.C2551T:p.R851C,;ANNO=splicing:DGKK
X	50341534	.	A	G	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SHROOM4:NM_020717:exon8:c.T3944C:p.I1315T,;ANNO=splicing:SHROOM4
X	52679403	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SSX7:NM_173358:exon5:c.G330A:p.K110K,;ANNO=splicing:SSX7
X	52893928	.	C	G	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:XAGE3:NM_133179:exon4:c.G189C:p.V63V,XAGE3:NM_130776:exon4:c.G189C:p.V63V,;ANNO=splicing:XAGE3
X	53116958	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TSPYL2:NM_022117:exon7:c.G1919A:p.G640D,;ANNO=splicing:TSPYL2
X	54011659	.	C	T	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PHF8:NM_001184898:exon19:c.G2080A:p.E694K,PHF8:NM_015107:exon18:c.G2131A:p.E711K,PHF8:NM_001184897:exon17:c.G1828A:p.E610K,PHF8:NM_001184896:exon18:c.G2239A:p.E747K,;ANNO=splicing:PHF8
X	54578725	.	C	T	100	PASS	AC=19;STUDIES=4;MAC=19;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GNL3L:NM_019067:exon13:c.C1182T:p.S394S,GNL3L:NM_001184819:exon13:c.C1182T:p.S394S,;ANNO=splicing:GNL3L
X	54780361	.	A	G	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITIH5L(NM_198510:c.3238+2T>C)
X	54815082	.	C	G	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITIH5L:NM_198510:exon5:c.G617C:p.S206T,;ANNO=splicing:ITIH5L
X	54952116	.	C	T	100	PASS	AC=42;STUDIES=8;MAC=42;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRO:NM_016157:exon7:c.C1577T:p.T526M,TRO:NM_001039705:exon7:c.C1577T:p.T526M,TRO:NM_177556:exon7:c.C1577T:p.T526M,;ANNO=splicing:TRO
X	54986260	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PFKFB1:NM_002625:exon4:c.G384A:p.A128A,;ANNO=splicing:PFKFB1
X	54986261	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PFKFB1:NM_002625:exon4:c.C383T:p.A128V,;ANNO=splicing:PFKFB1
X	55028863	.	C	T	100	PASS	AC=72;STUDIES=11;MAC=72;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:APEX2:NM_014481:exon3:c.C421T:p.R141C,;ANNO=splicing:APEX2
X	55041181	.	C	T	100	PASS	AC=12;STUDIES=7;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ALAS2:NM_001037967:exon8:c.G1325A:p.R442Q,ALAS2:NM_000032:exon9:c.G1436A:p.R479Q,ALAS2:NM_001037968:exon9:c.G1397A:p.R466Q,;ANNO=splicing:ALAS2
X	55042012	.	A	C	100	PASS	AC=32;STUDIES=4;MAC=32;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ALAS2:NM_001037967:exon7:c.T1056G:p.L352L,ALAS2:NM_000032:exon8:c.T1167G:p.L389L,ALAS2:NM_001037968:exon8:c.T1128G:p.L376L,;ANNO=splicing:ALAS2
X	57405218	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FAAH2:NM_174912:exon6:c.A877C:p.R293R,;ANNO=splicing:FAAH2
X	57407462	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAAH2:NM_174912:exon7:c.G996T:p.K332N,;ANNO=splicing:FAAH2
X	64959591	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:MSN:NM_002444:exon13:c.G1570A:p.A524T,;ANNO=splicing:MSN
X	65244971	.	C	T	100	PASS	AC=422;STUDIES=16;MAC=422;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VSIG4:NM_001184831:exon5:c.G554A:p.G185E,VSIG4:NM_001184830:exon6:c.G836A:p.G279E,VSIG4:NM_007268:exon6:c.G836A:p.G279E,VSIG4:NM_001100431:exon5:c.G554A:p.G185E,;ANNO=splicing:VSIG4
X	65486284	.	G	T	100	PASS	AC=98;STUDIES=11;MAC=98;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HEPH:NM_014799:exon20:c.G2446T:p.V816L,HEPH:NM_138737:exon21:c.G3409T:p.V1137L,;ANNO=splicing:HEPH(NM_001130860:c.3253-1G>T)
X	67518844	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:OPHN1:NM_002547:exon3:c.C249T:p.I83I,;ANNO=synonymous:OPHN1:NM_002547:exon3:c.C249A:p.I83I,;ANNO=splicing:OPHN1;ANNO=splicing:OPHN1
X	69496283	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARR3:NM_004312:exon7:c.A346G:p.M116V,;ANNO=splicing:ARR3
X	69561650	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIF4A:NM_012310:exon11:c.G1135A:p.V379M,;ANNO=splicing:KIF4A
X	69561780	.	T	G	100	PASS	AC=1666;STUDIES=16;MAC=1666;MAF=0.102;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:KIF4A:NM_012310:exon11:c.T1265G:p.L422W,;ANNO=splicing:KIF4A
X	69572506	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIF4A:NM_012310:exon14:c.C1488T:p.A496A,;ANNO=splicing:KIF4A
X	69596059	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIF4A:NM_012310:exon18:c.G2033A:p.R678Q,;ANNO=splicing:KIF4A
X	69652762	.	A	G	100	PASS	AC=15261;STUDIES=17;MAC=1835;MAF=0.107;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GDPD2:NM_001171193:exon14:c.A1302G:p.R434R,GDPD2:NM_017711:exon15:c.A1539G:p.R513R,GDPD2:NM_001171192:exon16:c.A1692G:p.R564R,GDPD2:NM_001171191:exon13:c.A1302G:p.R434R,;ANNO=splicing:GDPD2
X	70073098	.	G	A	100	PASS	AC=45;STUDIES=10;MAC=45;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TEX11:NM_001003811:exon7:c.C450T:p.A150A,TEX11:NM_031276:exon6:c.C405T:p.A135A,;ANNO=splicing:TEX11
X	70787601	.	A	G	100	PASS	AC=22;STUDIES=6;MAC=22;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:OGT:NM_181673:exon20:c.A2811G:p.P937P,OGT:NM_181672:exon20:c.A2841G:p.P947P,;ANNO=splicing:OGT
X	71904349	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:PHKA1:NM_001172436:exon5:c.C536T:p.A179V,PHKA1:NM_002637:exon5:c.C536T:p.A179V,PHKA1:NM_001122670:exon5:c.C536T:p.A179V,;ANNO=splicing:PHKA1
X	74334588	.	C	T	100	PASS	AC=187;STUDIES=13;MAC=187;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCB7(NM_004299:c.249+1G>A)
X	77298815	.	A	G	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ATP7A:NM_000052:exon21:c.A4006G:p.N1336D,;ANNO=splicing:ATP7A
X	77373548	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PGK1:NM_000291:exon6:c.C522T:p.S174S,;ANNO=splicing:PGK1
X	79943569	.	T	C	100	PASS	AC=19090;STUDIES=18;MAC=82;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BRWD3:NM_153252:exon34:c.A3863G:p.K1288R,;ANNO=splicing:BRWD3
X	79990696	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:BRWD3:NM_153252:exon10:c.A915G:p.R305R,;ANNO=splicing:BRWD3
X	80064802	.	C	T	100	PASS	AC=99;STUDIES=13;MAC=99;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BRWD3:NM_153252:exon2:c.G33A:p.E11E,;ANNO=splicing:BRWD3
X	80532668	.	G	A	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SH3BGRL:NM_003022:exon2:c.G231A:p.G77G,;ANNO=splicing:SH3BGRL
X	91134272	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:PCDH11X:NM_032968:exon2:c.G3033A:p.P1011P,PCDH11X:NM_001168362:exon2:c.G3033A:p.P1011P,PCDH11X:NM_032969:exon2:c.G3033A:p.P1011P,PCDH11X:NM_032967:exon5:c.G3033A:p.P1011P,PCDH11X:NM_001168361:exon2:c.G3033A:p.P1011P,PCDH11X:NM_014522:exon2:c.G3033A:p.P1011P,PCDH11X:NM_001168360:exon2:c.G3033A:p.P1011P,PCDH11X:NM_001168363:exon2:c.G3033A:p.P1011P,;ANNO=splicing:PCDH11X
X	91137905	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:PCDH11X(NM_032967:c.3033-1G>A)
X	96167327	.	C	T	100	PASS	AC=124;STUDIES=14;MAC=124;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DIAPH2:NM_006729:exon6:c.C588T:p.S196S,DIAPH2:NM_007309:exon6:c.C588T:p.S196S,;ANNO=splicing:DIAPH2
X	99888928	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TSPAN6:NM_003270:exon4:c.G450A:p.T150T,;ANNO=splicing:TSPAN6
X	99955893	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SYTL4:NM_001129896:exon6:c.G539A:p.S180N,SYTL4:NM_080737:exon7:c.G539A:p.S180N,SYTL4:NM_001174068:exon5:c.G539A:p.S180N,;ANNO=splicing:SYTL4
X	100105140	.	C	T	100	PASS	AC=230;STUDIES=9;MAC=230;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NOX1:NM_007052:exon9:c.G1133A:p.R378K,NOX1:NM_013955:exon9:c.G1133A:p.R378K,;ANNO=splicing:NOX1
X	100274272	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRMT2B(NM_001167970:c.1288+1G>A,NM_024917:c.1288+1G>A,NM_001167972:c.1288+1G>A,NM_001167971:c.1153+1G>A)
X	100296359	.	G	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRMT2B:NM_001167970:exon4:c.C250G:p.L84V,TRMT2B:NM_024917:exon4:c.C250G:p.L84V,TRMT2B:NM_001167972:exon3:c.C250G:p.L84V,TRMT2B:NM_001167971:exon5:c.C250G:p.L84V,;ANNO=splicing:TRMT2B
X	100492609	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DRP2:NM_001939:exon5:c.G283A:p.A95T,DRP2:NM_001171184:exon3:c.G49A:p.A17T,;ANNO=splicing:DRP2
X	100493970	.	G	A	100	PASS	AC=20;STUDIES=9;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DRP2:NM_001939:exon6:c.G439A:p.A147T,DRP2:NM_001171184:exon4:c.G205A:p.A69T,;ANNO=splicing:DRP2
X	100533108	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TAF7L:NM_001168474:exon8:c.A506G:p.Y169C,TAF7L:NM_024885:exon8:c.A764G:p.Y255C,;ANNO=splicing:TAF7L
X	100541563	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TAF7L:NM_001168474:exon3:c.C145T:p.P49S,TAF7L:NM_024885:exon3:c.C403T:p.P135S,;ANNO=splicing:TAF7L
X	100624987	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BTK:NM_000061:exon5:c.C390T:p.N130N,;ANNO=splicing:BTK
X	100658972	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GLA:NM_000169:exon2:c.G196C:p.E66Q,;ANNO=splicing:GLA
X	102331170	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:NXF3
X	102841580	.	A	G	100	PASS	AC=35;STUDIES=6;MAC=35;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:TCEAL4
X	102979536	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GLRA4:NM_001172285:exon3:c.G203A:p.G68D,GLRA4:NM_001024452:exon3:c.G203A:p.G68D,;ANNO=splicing:GLRA4
X	105184024	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:NRK:NM_198465:exon23:c.C3958G:p.L1320V,;ANNO=nonsynonymous:NRK:NM_198465:exon23:c.C3958T:p.L1320F,;ANNO=splicing:NRK;ANNO=splicing:NRK
X	105193726	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NRK:NM_198465:exon27:c.G4513T:p.A1505S,;ANNO=splicing:NRK
X	105937637	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RNF128:NM_024539:exon1:c.T405C:p.F135F,;ANNO=splicing:RNF128
X	106092473	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:TBC1D8B(NM_198881:c.1837-2A>G)
X	106396402	.	A	G	100	PASS	AC=5025;STUDIES=17;MAC=5025;MAF=0.295;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NUP62CL:NM_017681:exon7:c.T530C:p.I177T,;ANNO=splicing:NUP62CL
X	107224898	.	C	T	100	PASS	AC=74;STUDIES=6;MAC=74;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TEX13B(NM_031273:c.459+1G>A)
X	107420072	.	C	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL4A6:NM_033641:exon28:c.G2685T:p.K895N,COL4A6:NM_001847:exon28:c.G2688T:p.K896N,;ANNO=splicing:COL4A6
X	107462929	.	G	A	100	PASS	AC=98;STUDIES=14;MAC=98;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL4A6:NM_033641:exon5:c.C323T:p.P108L,COL4A6:NM_001847:exon5:c.C326T:p.P109L,;ANNO=splicing:COL4A6
X	108619395	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GUCY2F:NM_001522:exon18:c.G3152A:p.G1051D,;ANNO=splicing:GUCY2F
X	108631890	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GUCY2F(NM_001522:c.2785-2A>G)
X	108636120	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GUCY2F(NM_001522:c.2588+1G>A)
X	108779205	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NXT2:NM_018698:exon1:c.A94G:p.S32G,;ANNO=splicing:NXT2
X	111914632	.	T	C	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:LHFPL1
X	117925725	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IL13RA1:NM_001560:exon11:c.C1192T:p.H398Y,;ANNO=splicing:IL13RA1
X	118219347	.	T	C	100	PASS	AC=2072;STUDIES=16;MAC=2072;MAF=0.131;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1210:NM_020721:exon12:c.A4847G:p.E1616G,;ANNO=splicing:KIAA1210
X	118220508	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA1210(NM_020721:c.4684+1G>A)
X	118230653	.	C	T	100	PASS	AC=33;STUDIES=8;MAC=33;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1210:NM_020721:exon8:c.G1070A:p.S357N,;ANNO=splicing:KIAA1210
X	119048840	.	C	T	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AKAP14:NM_178813:exon5:c.C440T:p.P147L,;ANNO=splicing:AKAP14
X	119576455	.	G	A	100	PASS	AC=513;STUDIES=16;MAC=513;MAF=0.032;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LAMP2:NM_002294:exon7:c.C927T:p.S309S,LAMP2:NM_001122606:exon7:c.C927T:p.S309S,LAMP2:NM_013995:exon7:c.C927T:p.S309S,;ANNO=splicing:LAMP2
X	122779186	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:THOC2:NM_001081550:exon13:c.C1427T:p.T476M,;ANNO=splicing:THOC2
X	123034343	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:XIAP:NM_001167:exon6:c.A1100G:p.D367G,XIAP:NM_001204401:exon6:c.A1100G:p.D367G,;ANNO=splicing:XIAP
X	128674722	.	C	T	100	PASS	AC=74;STUDIES=13;MAC=74;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OCRL:NM_001587:exon2:c.C41T:p.T14I,OCRL:NM_000276:exon2:c.C41T:p.T14I,;ANNO=splicing:OCRL
X	133922863	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM122B(NM_001166600:c.333-2A>G,NM_001170757:c.174-2A>G,NM_145284:c.276-2A>G,NM_001166599:c.276-2A>G,NM_001170756:c.333-2A>G)
X	134987551	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:SAGE1:NM_018666:exon5:c.C454T:p.H152Y,;ANNO=splicing:SAGE1
X	134990000	.	C	T	100	PASS	AC=1104;STUDIES=17;MAC=1104;MAF=0.065;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:SAGE1:NM_018666:exon10:c.C1159T:p.H387Y,;ANNO=splicing:SAGE1
X	135056133	.	C	T	100	PASS	AC=67;STUDIES=2;MAC=67;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MMGT1
X	135081015	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC9A6:NM_001177651:exon6:c.G525A:p.G175G,SLC9A6:NM_006359:exon5:c.G585A:p.G195G,SLC9A6:NM_001042537:exon5:c.G681A:p.G227G,;ANNO=splicing:SLC9A6
X	135312997	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MAP7D3(NM_001173517:c.1436+1G>C,NM_001173516:c.1487+1G>C,NM_024597:c.1541+1G>C)
X	135477653	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GPR112(NM_153834:c.8184+1G>T)
X	135618392	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:VGLL1:NM_016267:exon2:c.C213T:p.N71N,;ANNO=splicing:VGLL1
X	135730564	.	G	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD40LG(NM_000074:c.156+1G>A)
X	138664661	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MCF2:NM_001099855:exon28:c.G2927A:p.R976K,MCF2:NM_001171876:exon29:c.G2975A:p.R992K,MCF2:NM_001171877:exon22:c.G2407A:p.D803N,MCF2:NM_001171878:exon23:c.G2524A:p.D842N,MCF2:NM_005369:exon25:c.G2747A:p.R916K,MCF2:NM_001171879:exon26:c.G2795A:p.R932K,;ANNO=splicing:MCF2
X	138724628	.	G	A	100	PASS	AC=37;STUDIES=10;MAC=37;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MCF2:NM_001171877:exon1:c.C50T:p.A17V,MCF2:NM_001171878:exon1:c.C50T:p.A17V,MCF2:NM_005369:exon1:c.C50T:p.A17V,MCF2:NM_001171879:exon1:c.C50T:p.A17V,;ANNO=splicing:MCF2
X	138882269	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ATP11C:NM_001010986:exon8:c.A669G:p.K223K,ATP11C:NM_173694:exon8:c.A669G:p.K223K,;ANNO=splicing:ATP11C
X	140336520	.	G	A	100	PASS	AC=422;STUDIES=7;MAC=422;MAF=0.066;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:SPANXC:NM_022661:exon1:c.C71T:p.T24M,;ANNO=splicing:SPANXC
X	140785569	.	C	A	100	PASS	AC=28;STUDIES=2;MAC=28;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:SPANXD,SPANXE
X	147019617	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FMR1(NM_002024:c.1125-1G>A,NM_001185075:c.1125-1G>A)
X	147106385	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FMR1NB:NM_152578:exon5:c.C633T:p.S211S,;ANNO=splicing:FMR1NB
X	147924957	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AFF2:NM_002025:exon7:c.C1262T:p.S421L,AFF2:NM_001169122:exon6:c.C1163T:p.S388L,AFF2:NM_001170628:exon4:c.C185T:p.S62L,;ANNO=splicing:AFF2
X	148048609	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AFF2:NM_002025:exon14:c.C3203T:p.S1068L,AFF2:NM_001169122:exon13:c.C3098T:p.S1033L,AFF2:NM_001169123:exon14:c.C3173T:p.S1058L,AFF2:NM_001170628:exon11:c.C2126T:p.S709L,AFF2:NM_001169124:exon13:c.C3098T:p.S1033L,AFF2:NM_001169125:exon13:c.C3086T:p.S1029L,;ANNO=splicing:AFF2
X	148585823	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IDS:NM_006123:exon2:c.A104G:p.D35G,IDS:NM_000202:exon2:c.A104G:p.D35G,;ANNO=splicing:IDS
X	150573389	.	C	T	100	PASS	AC=28;STUDIES=10;MAC=28;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VMA21:NM_001017980:exon3:c.C165T:p.G55G,;ANNO=splicing:VMA21
X	152089291	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZNF185:NM_007150:exon9:c.A652G:p.R218G,ZNF185:NM_001178109:exon9:c.A652G:p.R218G,ZNF185:NM_001178106:exon9:c.A652G:p.R218G,ZNF185:NM_001178107:exon9:c.A652G:p.R218G,ZNF185:NM_001178110:exon9:c.A652G:p.R218G,ZNF185:NM_001178113:exon3:c.A166G:p.R56G,ZNF185:NM_001178108:exon9:c.A655G:p.R219G,;ANNO=splicing:ZNF185
X	152101415	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF185(NM_001178110:c.842-2A>C,NM_001178107:c.932-2A>C,NM_001178109:c.932-2A>C,NM_007150:c.1019-2A>C,NM_001178108:c.1022-2A>C,NM_001178106:c.1019-2A>C,NM_001178113:c.356-2A>C)
X	152101516	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF185(NM_001178110:c.941+1G>A,NM_001178107:c.1031+1G>A,NM_001178109:c.1031+1G>A,NM_007150:c.1118+1G>A,NM_001178108:c.1121+1G>A,NM_001178106:c.1118+1G>A,NM_001178113:c.455+1G>A)
X	152613112	.	C	T	100	PASS	AC=7332;STUDIES=15;MAC=6084;MAF=0.453;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF275:NM_001080485:exon4:c.C969T:p.C323C,;ANNO=splicing:ZNF275
X	152613113	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:ZNF275:NM_001080485:exon4:c.G970A:p.G324S,;ANNO=splicing:ZNF275
X	152771533	.	C	T	100	PASS	AC=480;STUDIES=18;MAC=480;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BGN:NM_001711:exon4:c.C564T:p.I188I,;ANNO=splicing:BGN
X	152959900	.	C	T	100	PASS	AC=36;STUDIES=9;MAC=36;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:SLC6A8:NM_005629:exon10:c.C1494T:p.Y498Y,SLC6A8:NM_001142806:exon10:c.C1149T:p.Y383Y,SLC6A8:NM_001142805:exon10:c.C1464T:p.Y488Y,;ANNO=splicing:SLC6A8
X	153047199	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SRPK3:NM_014370:exon4:c.C301T:p.R101C,SRPK3:NM_001170761:exon4:c.C301T:p.R101C,SRPK3:NM_001170760:exon4:c.C301T:p.R101C,;ANNO=splicing:SRPK3
X	153130543	.	G	C	100	PASS	AC=91;STUDIES=5;MAC=91;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:L1CAM:NM_001143963:exon20:c.C2857G:p.L953V,L1CAM:NM_000425:exon21:c.C2872G:p.L958V,L1CAM:NM_024003:exon21:c.C2872G:p.L958V,;ANNO=splicing:L1CAM
X	153175196	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARHGAP4:NM_001164741:exon20:c.G2533A:p.G845R,ARHGAP4:NM_001666:exon19:c.G2413A:p.G805R,;ANNO=splicing:ARHGAP4
X	153178861	.	A	C	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ARHGAP4(NM_001666:c.1326+2T>G,NM_001164741:c.1446+2T>G)
X	153209869	.	T	C	100	PASS	AC=31;STUDIES=10;MAC=31;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RENBP:NM_002910:exon2:c.A29G:p.D10G,;ANNO=splicing:RENBP
X	153633336	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DNASE1L1:NM_006730:exon3:c.G224A:p.R75Q,DNASE1L1:NM_001009934:exon3:c.G224A:p.R75Q,DNASE1L1:NM_001009933:exon4:c.G224A:p.R75Q,DNASE1L1:NM_001009932:exon5:c.G224A:p.R75Q,;ANNO=splicing:DNASE1L1
X	153689117	.	C	T	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLXNA3:NM_017514:exon2:c.C594T:p.L198L,;ANNO=splicing:PLXNA3
X	153689978	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLXNA3:NM_017514:exon3:c.C1134T:p.T378T,;ANNO=splicing:PLXNA3
X	154319113	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BRCC3:NM_001018055:exon7:c.G547C:p.E183Q,;ANNO=splicing:BRCC3
X	155232686	.	T	C	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:IL9R(NM_002186:c.142+2T>C)
X	155233115	.	G	T	100	PASS	AC=600;STUDIES=7;MAC=600;MAF=0.069;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:IL9R:NM_002186:exon3:c.G144T:p.G48G,;ANNO=splicing:IL9R
Y	16734471	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:NLGN4Y:NM_001164238:exon1:c.G472A:p.G158R,NLGN4Y:NM_014893:exon2:c.G472A:p.D158N,;ANNO=splicing:NLGN4Y
1	871276	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SAMD11:NM_152486:exon5:c.G430A:p.G144S,;ANNO=splicing:SAMD11
1	881554	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:NOC2L:NM_015658:exon16:c.G1916A:p.R639Q,;ANNO=splicing:NOC2L
1	891393	.	G	A	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NOC2L:NM_015658:exon6:c.C608T:p.A203V,;ANNO=splicing:NOC2L
1	897009	.	A	G	100	PASS	AC=43;STUDIES=11;MAC=43;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KLHL17:NM_198317:exon3:c.A368G:p.N123S,;ANNO=splicing:KLHL17
1	905901	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:PLEKHN1:NM_001160184:exon4:c.G331A:p.D111N,PLEKHN1:NM_032129:exon4:c.G331A:p.D111N,;ANNO=nonsynonymous:PLEKHN1:NM_001160184:exon4:c.G331T:p.D111Y,PLEKHN1:NM_032129:exon4:c.G331T:p.D111Y,;ANNO=splicing:PLEKHN1;ANNO=splicing:PLEKHN1
1	905901	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:PLEKHN1:NM_001160184:exon4:c.G331A:p.D111N,PLEKHN1:NM_032129:exon4:c.G331A:p.D111N,;ANNO=nonsynonymous:PLEKHN1:NM_001160184:exon4:c.G331T:p.D111Y,PLEKHN1:NM_032129:exon4:c.G331T:p.D111Y,;ANNO=splicing:PLEKHN1;ANNO=splicing:PLEKHN1
1	906067	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLEKHN1:NM_001160184:exon5:c.G413A:p.G138E,PLEKHN1:NM_032129:exon5:c.G413A:p.G138E,;ANNO=splicing:PLEKHN1
1	906494	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLEKHN1:NM_001160184:exon7:c.G650A:p.R217H,PLEKHN1:NM_032129:exon7:c.G614A:p.R205H,;ANNO=splicing:PLEKHN1
1	908389	.	C	T	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLEKHN1:NM_001160184:exon11:c.C1187T:p.P396L,PLEKHN1:NM_032129:exon11:c.C1151T:p.P384L,;ANNO=splicing:PLEKHN1
1	908390	.	G	A	100	PASS	AC=20;STUDIES=3;MAC=20;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLEKHN1:NM_001160184:exon11:c.G1188A:p.P396P,PLEKHN1:NM_032129:exon11:c.G1152A:p.P384P,;ANNO=splicing:PLEKHN1
1	980903	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AGRN:NM_198576:exon14:c.C2536T:p.P846S,;ANNO=splicing:AGRN
1	981345	.	C	T	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AGRN:NM_198576:exon16:c.C2682T:p.D894D,;ANNO=splicing:AGRN
1	984947	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AGRN:NM_198576:exon26:c.G4516A:p.A1506T,;ANNO=splicing:AGRN
1	985614	.	C	T	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AGRN:NM_198576:exon28:c.C4881T:p.A1627A,;ANNO=splicing:AGRN
1	1115415	.	C	T	100	PASS	AC=93;STUDIES=7;MAC=93;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TTLL10:NM_001130045:exon6:c.C201T:p.G67G,;ANNO=splicing:TTLL10
1	1120488	.	A	C	100	PASS	AC=212;STUDIES=12;MAC=212;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TTLL10:NM_153254:exon9:c.A1181C:p.K394T,TTLL10:NM_001130045:exon13:c.A1400C:p.K467T,;ANNO=splicing:TTLL10
1	1120489	.	G	A	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:TTLL10:NM_153254:exon9:c.G1182A:p.K394K,TTLL10:NM_001130045:exon13:c.G1401A:p.K467K,;ANNO=splicing:TTLL10
1	1140871	.	G	A	100	PASS	AC=32;STUDIES=9;MAC=32;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TNFRSF18:NM_148901:exon2:c.C189T:p.G63G,TNFRSF18:NM_004195:exon2:c.C189T:p.G63G,TNFRSF18:NM_148902:exon2:c.C189T:p.G63G,;ANNO=splicing:TNFRSF18
1	1159212	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:SDF4:NM_016176:exon3:c.G463T:p.G155C,SDF4:NM_016547:exon3:c.G463T:p.G155C,;ANNO=nonsynonymous:SDF4:NM_016176:exon3:c.G463A:p.G155S,SDF4:NM_016547:exon3:c.G463A:p.G155S,;ANNO=splicing:SDF4;ANNO=splicing:SDF4
1	1159213	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SDF4:NM_016176:exon3:c.C462T:p.D154D,SDF4:NM_016547:exon3:c.C462T:p.D154D,;ANNO=splicing:SDF4
1	1178442	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM132A:NM_001014980:exon6:c.C731T:p.T244M,;ANNO=splicing:FAM132A
1	1178825	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FAM132A:NM_001014980:exon5:c.G639A:p.V213V,;ANNO=splicing:FAM132A
1	1179762	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM132A:NM_001014980:exon2:c.C293T:p.P98L,;ANNO=splicing:FAM132A
1	1221657	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:SCNN1D:NM_001130413:exon7:c.A910T:p.K304X,;ANNO=splicing:SCNN1D
1	1246013	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PUSL1(NM_153339:c.644-1G>A)
1	1246450	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PUSL1:NM_153339:exon7:c.C861T:p.L287L,;ANNO=splicing:PUSL1
1	1247820	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CPSF3L:NM_017871:exon14:c.C1464T:p.S488S,;ANNO=splicing:CPSF3L
1	1248329	.	G	A	100	PASS	AC=59;STUDIES=13;MAC=59;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CPSF3L:NM_017871:exon12:c.C1132T:p.L378L,;ANNO=splicing:CPSF3L
1	1275882	.	G	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DVL1:NM_004421:exon6:c.C607T:p.L203F,;ANNO=splicing:DVL1
1	1275883	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DVL1:NM_004421:exon6:c.G606A:p.R202R,;ANNO=splicing:DVL1
1	1277184	.	G	A	100	PASS	AC=26;STUDIES=2;MAC=26;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:DVL1:NM_004421:exon5:c.C468T:p.A156A,;ANNO=splicing:DVL1
1	1387746	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ATAD3C:NM_001039211:exon3:c.G154A:p.A52T,;ANNO=splicing:ATAD3C
1	1396296	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATAD3C:NM_001039211:exon10:c.C979T:p.R327W,;ANNO=splicing:ATAD3C
1	1417994	.	G	A	100	PASS	AC=24;STUDIES=11;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:ATAD3B:NM_031921:exon7:c.G750A:p.T250T,;ANNO=splicing:ATAD3B
1	1423294	.	T	C	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:ATAD3B:NM_031921:exon12:c.T1266C:p.T422T,;ANNO=splicing:ATAD3B
1	1426050	.	A	C	100	PASS	AC=132;STUDIES=10;MAC=132;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:ATAD3B:NM_031921:exon15:c.A1613C:p.Q538P,;ANNO=splicing:ATAD3B
1	1460671	.	C	T	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:ATAD3A:NM_018188:exon12:c.C1410T:p.T470T,ATAD3A:NM_001170535:exon12:c.C1266T:p.T422T,ATAD3A:NM_001170536:exon12:c.C1029T:p.T343T,;ANNO=splicing:ATAD3A
1	1464604	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ATAD3A:NM_018188:exon15:c.C1651T:p.R551C,ATAD3A:NM_001170535:exon15:c.C1507T:p.R503C,ATAD3A:NM_001170536:exon15:c.C1270T:p.R424C,;ANNO=splicing:ATAD3A
1	1601104	.	G	A	100	PASS	AC=25;STUDIES=5;MAC=25;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC35E2B:NM_001110781:exon7:c.C833T:p.T278M,;ANNO=splicing:SLC35E2B
1	1688096	.	C	T	100	PASS	AC=149;STUDIES=12;MAC=149;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NADK:NM_001198994:exon7:c.G780A:p.P260P,;ANNO=splicing:NADK
1	1888057	.	A	G	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA1751(NM_001080484:c.2016+2T>C)
1	1890559	.	C	T	100	PASS	AC=54;STUDIES=11;MAC=54;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KIAA1751:NM_001080484:exon16:c.G1851A:p.S617S,;ANNO=splicing:KIAA1751
1	1918377	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA1751:NM_001080484:exon5:c.A394C:p.M132L,;ANNO=splicing:KIAA1751
1	1918475	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA1751(NM_001080484:c.296-1G>C)
1	1959595	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GABRD:NM_000815:exon6:c.C555T:p.Y185Y,;ANNO=splicing:GABRD
1	1959730	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GABRD:NM_000815:exon6:c.C690T:p.S230S,;ANNO=splicing:GABRD
1	2337272	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:PEX10:NM_153818:exon6:c.C974T:p.A325V,PEX10:NM_002617:exon6:c.C914T:p.A305V,;ANNO=splicing:PEX10
1	2519989	.	G	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C1orf93:NM_001195736:exon5:c.G529T:p.A177S,C1orf93:NM_152371:exon5:c.G475T:p.A159S,C1orf93:NM_001195738:exon5:c.G475T:p.A159S,C1orf93:NM_001195737:exon5:c.G495T:p.R165S,;ANNO=splicing:C1orf93
1	2541269	.	A	G	100	PASS	AC=8494;STUDIES=20;MAC=8494;MAF=0.389;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MMEL1:NM_033467:exon5:c.T294C:p.A98A,;ANNO=splicing:MMEL1
1	2542778	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MMEL1:NM_033467:exon4:c.G234A:p.G78G,;ANNO=splicing:MMEL1
1	3327949	.	T	C	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PRDM16:NM_022114:exon9:c.T1188C:p.C396C,PRDM16:NM_199454:exon9:c.T1188C:p.C396C,;ANNO=splicing:PRDM16
1	3342788	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PRDM16:NM_022114:exon14:c.C3283T:p.R1095W,PRDM16:NM_199454:exon14:c.C3283T:p.R1095W,;ANNO=splicing:PRDM16
1	3395176	.	C	T	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:ARHGEF16:NM_014448:exon12:c.C1814T:p.A605V,;ANNO=splicing:ARHGEF16
1	3410935	.	G	A	100	PASS	AC=65;STUDIES=9;MAC=65;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MEGF6:NM_001409:exon32:c.C4129T:p.P1377S,;ANNO=splicing:MEGF6
1	3413684	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MEGF6(NM_001409:c.3481-1G>T)
1	3417742	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MEGF6:NM_001409:exon19:c.C2445T:p.D815D,;ANNO=splicing:MEGF6
1	3431235	.	A	C	100	PASS	AC=363;STUDIES=9;MAC=363;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MEGF6:NM_001409:exon7:c.T732G:p.R244R,;ANNO=splicing:MEGF6
1	3496390	.	A	G	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MEGF6:NM_001409:exon4:c.T480C:p.Y160Y,;ANNO=splicing:MEGF6
1	3553560	.	C	T	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WRAP73:NM_017818:exon5:c.G515A:p.R172Q,;ANNO=splicing:WRAP73
1	3669362	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCDC27:NM_152492:exon1:c.C317T:p.T106M,;ANNO=splicing:CCDC27
1	3753856	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CEP104:NM_014704:exon9:c.T1119C:p.N373N,;ANNO=splicing:CEP104
1	3761547	.	C	A	100	PASS	AC=72;STUDIES=7;MAC=72;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CEP104:NM_014704:exon6:c.G490T:p.A164S,;ANNO=splicing:CEP104
1	5934716	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NPHP4:NM_015102:exon22:c.G3046A:p.V1016I,;ANNO=splicing:NPHP4
1	5935159	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:NPHP4:NM_015102:exon21:c.C2819T:p.A940V,;ANNO=splicing:NPHP4
1	5935162	.	A	T	100	PASS	AC=17509;STUDIES=17;MAC=2937;MAF=0.144;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NPHP4(NM_015102:c.2817-2T>A)
1	5947525	.	T	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NPHP4:NM_015102:exon18:c.A2306T:p.H769L,;ANNO=splicing:NPHP4
1	5964678	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NPHP4:NM_015102:exon16:c.T2142A:p.A714A,;ANNO=splicing:NPHP4
1	6012895	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NPHP4:NM_015102:exon7:c.C675T:p.G225G,;ANNO=splicing:NPHP4
1	6171835	.	G	A	100	PASS	AC=20;STUDIES=10;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CHD5:NM_015557:exon36:c.C5249T:p.T1750M,;ANNO=splicing:CHD5
1	6203883	.	G	A	100	PASS	AC=12;STUDIES=7;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CHD5:NM_015557:exon13:c.C2043T:p.D681D,;ANNO=splicing:CHD5
1	6271178	.	C	T	100	PASS	AC=36;STUDIES=12;MAC=36;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RNF207:NM_207396:exon12:c.C1109T:p.T370M,;ANNO=splicing:RNF207
1	6272793	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RNF207:NM_207396:exon15:c.G1534A:p.A512T,;ANNO=splicing:RNF207
1	6522724	.	C	T	100	PASS	AC=19;STUDIES=5;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TNFRSF25:NM_148965:exon8:c.G736A:p.D246N,TNFRSF25:NM_148967:exon7:c.G574A:p.D192N,TNFRSF25:NM_003790:exon8:c.G709A:p.D237N,;ANNO=splicing:TNFRSF25(NM_148966:c.598-1G>A,NM_148970:c.160-1G>A)
1	6525619	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TNFRSF25:NM_001039664:exon2:c.C41T:p.A14V,TNFRSF25:NM_148966:exon2:c.C41T:p.A14V,TNFRSF25:NM_148965:exon2:c.C41T:p.A14V,TNFRSF25:NM_148970:exon2:c.C41T:p.A14V,TNFRSF25:NM_148967:exon2:c.C41T:p.A14V,TNFRSF25:NM_003790:exon2:c.C41T:p.A14V,;ANNO=splicing:TNFRSF25
1	6529605	.	A	G	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLEKHG5:NM_001042664:exon17:c.T1932C:p.P644P,PLEKHG5:NM_198681:exon18:c.T2163C:p.P721P,PLEKHG5:NM_001042663:exon18:c.T2100C:p.P700P,PLEKHG5:NM_001042665:exon17:c.T1932C:p.P644P,PLEKHG5:NM_020631:exon17:c.T1932C:p.P644P,;ANNO=splicing:PLEKHG5
1	6534226	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLEKHG5(NM_001042663:c.607-2A>G,NM_198681:c.670-2A>G,NM_020631:c.439-2A>G,NM_001042664:c.439-2A>G,NM_001042665:c.439-2A>G)
1	6550505	.	C	T	100	PASS	AC=291;STUDIES=2;MAC=291;MAF=0.156;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:PLEKHG5
1	7838228	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:VAMP3:NM_004781:exon4:c.C282T:p.I94I,;ANNO=splicing:VAMP3
1	7869953	.	C	G	100	PASS	AC=149;STUDIES=14;MAC=149;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PER3:NM_016831:exon11:c.C1240G:p.P414A,;ANNO=splicing:PER3
1	7998254	.	T	G	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:TNFRSF9:NM_001561:exon5:c.A345C:p.K115N,;ANNO=splicing:TNFRSF9
1	7998390	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TNFRSF9:NM_001561:exon5:c.G209A:p.G70D,;ANNO=splicing:TNFRSF9
1	8384785	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC45A1:NM_001080397:exon1:c.C396T:p.L132L,;ANNO=splicing:SLC45A1
1	8416160	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RERE:NM_012102:exon22:c.G4486A:p.G1496S,RERE:NM_001042682:exon11:c.G2824A:p.G942S,RERE:NM_001042681:exon21:c.G4486A:p.G1496S,;ANNO=splicing:RERE
1	8555123	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RERE:NM_012102:exon11:c.A1104C:p.T368T,RERE:NM_001042681:exon10:c.A1104C:p.T368T,;ANNO=splicing:RERE
1	9063578	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC2A7(NM_207420:c.1320-1G>A)
1	9070303	.	C	T	100	PASS	AC=17;STUDIES=3;MAC=17;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC2A7:NM_207420:exon9:c.G1015A:p.A339T,;ANNO=splicing:SLC2A7
1	9171336	.	G	A	100	PASS	AC=13;STUDIES=8;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPR157:NM_024980:exon2:c.C596T:p.A199V,;ANNO=splicing:GPR157
1	9640291	.	C	T	100	PASS	AC=28;STUDIES=5;MAC=28;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:SLC25A33:NM_032315:exon6:c.C762T:p.H254H,;ANNO=splicing:SLC25A33
1	9640292	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC25A33:NM_032315:exon6:c.G763A:p.E255K,;ANNO=splicing:SLC25A33
1	9782302	.	C	T	100	PASS	AC=31;STUDIES=6;MAC=31;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:PIK3CD:NM_005026:exon18:c.C2235T:p.C745C,;ANNO=splicing:PIK3CD
1	9833451	.	A	G	100	PASS	AC=22;STUDIES=5;MAC=22;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CLSTN1:NM_014944:exon2:c.T93C:p.V31V,CLSTN1:NM_001009566:exon2:c.T93C:p.V31V,;ANNO=splicing:CLSTN1
1	9833452	.	A	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CLSTN1:NM_014944:exon2:c.T92C:p.V31A,CLSTN1:NM_001009566:exon2:c.T92C:p.V31A,;ANNO=splicing:CLSTN1
1	9931246	.	C	A	100	PASS	AC=22;STUDIES=3;MAC=22;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CTNNBIP1:NM_001012329:exon4:c.G186T:p.Q62H,CTNNBIP1:NM_020248:exon5:c.G186T:p.Q62H,;ANNO=splicing:CTNNBIP1
1	9932027	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CTNNBIP1:NM_001012329:exon3:c.C96T:p.N32N,CTNNBIP1:NM_020248:exon4:c.C96T:p.N32N,;ANNO=splicing:CTNNBIP1
1	9996684	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:LZIC
1	10190773	.	G	A	100	PASS	AC=430;STUDIES=12;MAC=430;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UBE4B:NM_001105562:exon14:c.G1813A:p.V605I,UBE4B:NM_006048:exon13:c.G1426A:p.V476I,;ANNO=splicing:UBE4B
1	10459761	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PGD:NM_002631:exon2:c.G84A:p.V28V,;ANNO=splicing:PGD
1	10706383	.	G	A	100	PASS	AC=19;STUDIES=4;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CASZ1:NM_001079843:exon17:c.C3498T:p.N1166N,;ANNO=splicing:CASZ1
1	11009679	.	G	A	100	PASS	AC=1128;STUDIES=16;MAC=1128;MAF=0.059;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf127(NM_001170754:c.1290+2C>T)
1	11014199	.	G	C	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C1orf127:NM_001170754:exon10:c.C976G:p.R326G,;ANNO=splicing:C1orf127
1	11017163	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C1orf127:NM_001170754:exon8:c.T695C:p.V232A,;ANNO=splicing:C1orf127
1	11097867	.	C	T	100	PASS	AC=1483;STUDIES=21;MAC=1483;MAF=0.062;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MASP2:NM_006610:exon7:c.G891A:p.A297A,;ANNO=splicing:MASP2
1	11142745	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EXOSC10:NM_001001998:exon10:c.G1280A:p.R427H,EXOSC10:NM_002685:exon10:c.G1280A:p.R427H,;ANNO=splicing:EXOSC10
1	11590016	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PTCHD2:NM_020780:exon15:c.G3102A:p.P1034P,;ANNO=splicing:PTCHD2
1	11771907	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf187(NM_198545:c.642-1G>C)
1	11856455	.	A	C	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MTHFR:NM_005957:exon5:c.T588G:p.G196G,;ANNO=splicing:MTHFR
1	11887278	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CLCN6:NM_021737:exon10:c.G814A:p.A272T,CLCN6:NM_021735:exon10:c.G850A:p.A284T,;ANNO=splicing:CLCN6
1	11907171	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NPPA:NM_006172:exon2:c.G449A:p.R150Q,;ANNO=splicing:NPPA
1	11980389	.	C	T	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:KIAA2013:NM_138346:exon3:c.G1888A:p.E630K,;ANNO=splicing:KIAA2013
1	12010414	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLOD1:NM_000302:exon4:c.C303T:p.S101S,;ANNO=splicing:PLOD1
1	12164437	.	C	T	100	PASS	AC=5908;STUDIES=22;MAC=5908;MAF=0.244;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TNFRSF8:NM_001243:exon4:c.C270T:p.D90D,;ANNO=splicing:TNFRSF8
1	12251141	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TNFRSF1B:NM_001066:exon3:c.T306C:p.S102S,;ANNO=splicing:TNFRSF1B
1	12294420	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VPS13D:NM_018156:exon2:c.G97C:p.G33R,VPS13D:NM_015378:exon2:c.G97C:p.G33R,;ANNO=splicing:VPS13D
1	12304303	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:VPS13D:NM_018156:exon4:c.G176A:p.G59D,VPS13D:NM_015378:exon4:c.G176A:p.G59D,;ANNO=splicing:VPS13D
1	12725971	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AADACL4(NM_001013630:c.449-1G>C)
1	12815650	.	T	G	100	PASS	AC=178;STUDIES=20;MAC=178;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C1orf158:NM_152290:exon2:c.T112G:p.F38V,;ANNO=splicing:C1orf158
1	12819421	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf158(NM_152290:c.403+1G>A)
1	12837153	.	G	A	100	PASS	AC=48;STUDIES=2;MAC=48;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRAMEF12(NM_001080830:c.863-1G>A)
1	12855587	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:PRAMEF1:NM_023013:exon4:c.G867A:p.R289R,;ANNO=splicing:PRAMEF1
1	12918838	.	A	G	100	PASS	AC=23;STUDIES=2;MAC=23;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:PRAMEF2
1	14099574	.	G	A	100	PASS	AC=415;STUDIES=21;MAC=415;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PRDM2:NM_012231:exon7:c.G513A:p.G171G,PRDM2:NM_015866:exon7:c.G513A:p.G171G,;ANNO=splicing:PRDM2
1	15382587	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KAZN:NM_201628:exon5:c.G727A:p.A243T,KAZN:NM_001018001:exon5:c.G445A:p.A149T,KAZN:NM_015209:exon5:c.G727A:p.A243T,KAZN:NM_001017999:exon5:c.G445A:p.A149T,KAZN:NM_001018000:exon5:c.G709A:p.A237T,;ANNO=splicing:KAZN
1	15599025	.	G	A	100	PASS	AC=1274;STUDIES=8;MAC=1274;MAF=0.160;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:FHAD1:NM_052929:exon3:c.G300A:p.P100P,;ANNO=splicing:FHAD1
1	15639551	.	A	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FHAD1(NM_052929:c.1039-2A>G)
1	15642964	.	G	A	100	PASS	AC=17;STUDIES=3;MAC=17;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FHAD1(NM_052929:c.1260+1G>A)
1	15653555	.	C	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FHAD1:NM_052929:exon12:c.C1474G:p.L492V,;ANNO=splicing:FHAD1
1	15769069	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CTRC(NM_007272:c.356+1G>A)
1	15794032	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CELA2A:NM_033440:exon7:c.C791T:p.S264L,;ANNO=splicing:CELA2A
1	15844606	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CASP9:NM_032996:exon2:c.C168T:p.V56V,CASP9:NM_001229:exon2:c.C417T:p.V139V,;ANNO=splicing:CASP9
1	15890424	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAJC16:NM_015291:exon10:c.G1339A:p.V447M,;ANNO=splicing:DNAJC16
1	15892415	.	A	C	100	PASS	AC=6547;STUDIES=21;MAC=6547;MAF=0.290;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:DNAJC16:NM_015291:exon12:c.A1600C:p.R534R,;ANNO=splicing:DNAJC16
1	15892577	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DNAJC16:NM_015291:exon13:c.C1680T:p.S560S,;ANNO=splicing:DNAJC16
1	15892578	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DNAJC16:NM_015291:exon13:c.G1681A:p.D561N,;ANNO=splicing:DNAJC16
1	15900221	.	T	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AGMAT(NM_024758:c.985-2A>T)
1	15986365	.	T	C	100	PASS	AC=78;STUDIES=8;MAC=78;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RSC1A1:NM_006511:exon1:c.T2C:p.M1T,;ANNO=splicing:RSC1A1
1	16330879	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C1orf64:NM_178840:exon1:c.C81T:p.S27S,;ANNO=splicing:C1orf64
1	16353931	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;SNP_ON_LEFT;ANNO=splicing:CLCNKA(NM_004070:c.781+1G>C,NM_001042704:c.781+1G>C)
1	16373030	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CLCNKB:NM_000085:exon4:c.C230T:p.A77V,;ANNO=splicing:CLCNKB
1	16373031	.	G	A	100	PASS	AC=22;STUDIES=9;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:CLCNKB:NM_000085:exon4:c.G231A:p.A77A,;ANNO=splicing:CLCNKB
1	16380134	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CLCNKB:NM_001165945:exon9:c.T1116C:p.G372G,CLCNKB:NM_000085:exon16:c.T1623C:p.G541G,;ANNO=splicing:CLCNKB
1	16382916	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLCNKB(NM_000085:c.1929-1G>A,NM_001165945:c.1422-1G>A)
1	16451815	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EPHA2:NM_004431:exon17:c.C2826T:p.D942D,;ANNO=splicing:EPHA2
1	16456083	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EPHA2:NM_004431:exon16:c.G2671A:p.V891M,;ANNO=splicing:EPHA2
1	16456721	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EPHA2:NM_004431:exon15:c.G2669A:p.R890H,;ANNO=splicing:EPHA2
1	16460963	.	C	T	100	PASS	AC=14;STUDIES=6;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EPHA2:NM_004431:exon8:c.G1682A:p.R561K,;ANNO=splicing:EPHA2
1	16462264	.	C	T	100	PASS	AC=73;STUDIES=13;MAC=73;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EPHA2:NM_004431:exon6:c.G1314A:p.E438E,;ANNO=splicing:EPHA2
1	16560108	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RSG1:NM_030907:exon2:c.C264T:p.T88T,;ANNO=splicing:RSG1
1	16727387	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPATA21:NM_198546:exon11:c.C1002G:p.N334K,;ANNO=splicing:SPATA21
1	16735613	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPATA21:NM_198546:exon7:c.G673A:p.A225T,;ANNO=splicing:SPATA21
1	16736096	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPATA21:NM_198546:exon6:c.G587A:p.R196Q,;ANNO=splicing:SPATA21
1	16736097	.	G	A	100	PASS	AC=56;STUDIES=5;MAC=56;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPATA21:NM_198546:exon6:c.C586T:p.R196W,;ANNO=splicing:SPATA21
1	16736538	.	C	T	100	PASS	AC=12;STUDIES=7;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPATA21:NM_198546:exon6:c.G145A:p.E49K,;ANNO=splicing:SPATA21
1	16767269	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NECAP2:NM_018090:exon1:c.G13C:p.G5R,NECAP2:NM_001145277:exon1:c.G13C:p.G5R,NECAP2:NM_001145278:exon1:c.G13C:p.G5R,;ANNO=splicing:NECAP2
1	16890681	.	C	G	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:NBPF1:NM_017940:exon29:c.G3182C:p.G1061A,;ANNO=splicing:NBPF1
1	16914219	.	C	G	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:NBPF1(NM_017940:c.566+1G>C)
1	16916395	.	T	A	100	PASS	AC=86;STUDIES=2;MAC=86;MAF=0.049;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:NBPF1:NM_017940:exon8:c.A277T:p.R93W,;ANNO=splicing:NBPF1
1	16916495	.	C	T	100	PASS	AC=126;STUDIES=2;MAC=126;MAF=0.098;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:NBPF1:NM_017940:exon8:c.G177A:p.K59K,;ANNO=splicing:NBPF1
1	17275018	.	C	A	100	PASS	AC=574;STUDIES=16;MAC=574;MAF=0.035;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CROCC:NM_014675:exon18:c.C2707A:p.R903S,;ANNO=splicing:CROCC
1	17275019	.	G	A	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:CROCC:NM_014675:exon18:c.G2708A:p.R903H,;ANNO=splicing:CROCC
1	17297132	.	T	C	100	PASS	AC=89;STUDIES=15;MAC=89;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CROCC:NM_014675:exon35:c.T5654C:p.V1885A,;ANNO=splicing:CROCC
1	17314633	.	C	T	100	PASS	AC=22;STUDIES=8;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ATP13A2:NM_022089:exon25:c.G2859A:p.T953T,ATP13A2:NM_001141973:exon25:c.G2844A:p.T948T,ATP13A2:NM_001141974:exon24:c.G2727A:p.T909T,;ANNO=splicing:ATP13A2
1	17320122	.	A	C	100	PASS	AC=33;STUDIES=2;MAC=33;MAF=0.124;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ATP13A2(NM_022089:c.1749+2T>G,NM_001141973:c.1734+2T>G,NM_001141974:c.1734+2T>G)
1	17322750	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ATP13A2:NM_022089:exon14:c.G1352A:p.R451Q,ATP13A2:NM_001141973:exon14:c.G1337A:p.R446Q,ATP13A2:NM_001141974:exon14:c.G1337A:p.R446Q,;ANNO=splicing:ATP13A2
1	17395772	.	C	A	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PADI2:NM_007365:exon16:c.G1765T:p.V589L,;ANNO=splicing:PADI2
1	17531806	.	T	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PADI1(NM_013358:c.92+2T>G)
1	17550187	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PADI1:NM_013358:exon3:c.C345T:p.V115V,;ANNO=splicing:PADI1
1	17566200	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PADI1:NM_013358:exon14:c.G1554T:p.G518G,;ANNO=splicing:PADI1
1	17567256	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PADI1(NM_013358:c.1758+1G>T)
1	17593214	.	C	A	100	PASS	AC=27;STUDIES=4;MAC=27;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=synonymous:PADI3:NM_016233:exon5:c.C409A:p.R137R,;ANNO=nonsynonymous:PADI3:NM_016233:exon5:c.C409T:p.R137W,;ANNO=splicing:PADI3;ANNO=splicing:PADI3
1	17593215	.	G	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PADI3:NM_016233:exon5:c.G410A:p.R137Q,;ANNO=splicing:PADI3
1	17594456	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PADI3:NM_016233:exon6:c.C651T:p.C217C,;ANNO=splicing:PADI3
1	17607292	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PADI3(NM_016233:c.1761+1G>A)
1	17666309	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PADI4(NM_012387:c.652+1G>A)
1	17685905	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PADI4(NM_012387:c.1758+2T>C)
1	17698855	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PADI6:NM_207421:exon1:c.G115A:p.G39R,;ANNO=splicing:PADI6
1	17708460	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PADI6(NM_207421:c.553-2A>T)
1	17721447	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PADI6:NM_207421:exon12:c.C1339T:p.R447C,;ANNO=splicing:PADI6
1	17739674	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RCC2:NM_001136204:exon9:c.G1208T:p.G403V,RCC2:NM_018715:exon10:c.G1208T:p.G403V,;ANNO=splicing:RCC2
1	18014241	.	A	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGEF10L:NM_018125:exon27:c.A3183C:p.P1061P,ARHGEF10L:NM_001011722:exon25:c.A3066C:p.P1022P,;ANNO=splicing:ARHGEF10L
1	18618361	.	T	G	100	PASS	AC=34;STUDIES=3;MAC=34;MAF=0.050;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IGSF21:NM_032880:exon3:c.T185G:p.V62G,;ANNO=splicing:IGSF21
1	18691718	.	T	G	100	PASS	AC=115;STUDIES=4;MAC=115;MAF=0.088;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IGSF21:NM_032880:exon6:c.T542G:p.V181G,;ANNO=splicing:IGSF21
1	19203910	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ALDH4A1:NM_170726:exon10:c.C1137T:p.D379D,ALDH4A1:NM_001161504:exon10:c.C957T:p.D319D,ALDH4A1:NM_003748:exon10:c.C1137T:p.D379D,;ANNO=splicing:ALDH4A1
1	19208194	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ALDH4A1:NM_170726:exon8:c.C866T:p.P289L,ALDH4A1:NM_001161504:exon8:c.C686T:p.P229L,ALDH4A1:NM_003748:exon8:c.C866T:p.P289L,;ANNO=splicing:ALDH4A1
1	19403234	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UBR4:NM_020765:exon105:c.G15487A:p.G5163S,;ANNO=splicing:UBR4
1	19415254	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UBR4:NM_020765:exon98:c.C14429T:p.T4810M,;ANNO=splicing:UBR4
1	19415470	.	A	C	100	PASS	AC=44;STUDIES=3;MAC=44;MAF=0.069;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UBR4:NM_020765:exon98:c.T14213G:p.V4738G,;ANNO=splicing:UBR4
1	19525294	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:UBR4:NM_020765:exon4:c.C507T:p.D169D,;ANNO=splicing:UBR4
1	19536746	.	C	T	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:UBR4
1	19582545	.	G	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:MRTO4:NM_016183:exon3:c.G191A:p.R64Q,;ANNO=splicing:MRTO4
1	19584327	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:MRTO4:NM_016183:exon6:c.G342A:p.E114E,;ANNO=splicing:MRTO4
1	19609386	.	C	T	100	PASS	AC=52;STUDIES=4;MAC=52;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:AKR7A3:NM_012067:exon7:c.G835A:p.G279S,;ANNO=splicing:AKR7A3
1	19612678	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AKR7A3(NM_012067:c.402+1G>T)
1	19633496	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:AKR7A2:NM_003689:exon5:c.G788C:p.R263P,;ANNO=nonsynonymous:AKR7A2:NM_003689:exon5:c.G788A:p.R263H,;ANNO=splicing:AKR7A2;ANNO=splicing:AKR7A2
1	20072025	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMCO4:NM_181719:exon10:c.C877T:p.R293C,;ANNO=splicing:TMCO4
1	20305016	.	G	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLA2G2A:NM_001161728:exon3:c.C42T:p.G14G,PLA2G2A:NM_001161727:exon4:c.C42T:p.G14G,PLA2G2A:NM_001161729:exon3:c.C42T:p.G14G,PLA2G2A:NM_000300:exon4:c.C42T:p.G14G,;ANNO=splicing:PLA2G2A
1	20445950	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLA2G2D(NM_012400:c.40+2T>G)
1	20466711	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLA2G2F:NM_022819:exon2:c.G169A:p.V57I,;ANNO=splicing:PLA2G2F
1	20471183	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLA2G2F(NM_022819:c.424+1G>A)
1	20975724	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PINK1:NM_032409:exon7:c.G1488A:p.K496K,;ANNO=splicing:PINK1
1	20980267	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DDOST:NM_005216:exon8:c.G846A:p.R282R,;ANNO=splicing:DDOST
1	20992824	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:KIF17:NM_001122819:exon14:c.G2791A:p.E931K,KIF17:NM_020816:exon14:c.G2794A:p.E932K,;ANNO=splicing:KIF17
1	21043968	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIF17(NM_020816:c.231+1G>A,NM_001122819:c.231+1G>A)
1	21137376	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EIF4G3:NM_003760:exon31:c.C4431T:p.A1477A,EIF4G3:NM_001198801:exon34:c.C4539T:p.A1513A,EIF4G3:NM_001198802:exon34:c.C4449T:p.A1483A,;ANNO=splicing:EIF4G3
1	21562343	.	G	A	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ECE1:NM_001113348:exon13:c.C1518T:p.D506D,ECE1:NM_001113349:exon12:c.C1557T:p.D519D,ECE1:NM_001397:exon13:c.C1566T:p.D522D,ECE1:NM_001113347:exon11:c.C1530T:p.D510D,;ANNO=splicing:ECE1
1	21573855	.	G	A	100	PASS	AC=1385;STUDIES=21;MAC=1385;MAF=0.059;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ECE1:NM_001113348:exon9:c.C974T:p.T325I,ECE1:NM_001113349:exon8:c.C1013T:p.T338I,ECE1:NM_001397:exon9:c.C1022T:p.T341I,ECE1:NM_001113347:exon7:c.C986T:p.T329I,;ANNO=splicing:ECE1
1	21798276	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:NBPF3:NM_032264:exon5:c.G661C:p.E221Q,;ANNO=splicing:NBPF3
1	21801393	.	A	G	100	PASS	AC=58;STUDIES=13;MAC=58;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:NBPF3:NM_032264:exon8:c.A941G:p.E314G,;ANNO=splicing:NBPF3
1	21890709	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ALPL:NM_000478:exon6:c.C648T:p.D216D,ALPL:NM_001177520:exon4:c.C417T:p.D139D,ALPL:NM_001127501:exon5:c.C483T:p.D161D,;ANNO=splicing:ALPL
1	21976289	.	C	T	100	PASS	AC=88;STUDIES=13;MAC=88;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RAP1GAP:NM_001145658:exon2:c.G45A:p.G15G,;ANNO=splicing:RAP1GAP
1	22030884	.	T	C	100	PASS	AC=408;STUDIES=21;MAC=408;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:USP48:NM_032236:exon20:c.A2386G:p.I796V,;ANNO=splicing:USP48
1	22041883	.	A	G	100	PASS	AC=73;STUDIES=11;MAC=73;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:USP48:NM_032236:exon15:c.T1962C:p.H654H,;ANNO=splicing:USP48
1	22168033	.	G	A	100	PASS	AC=24;STUDIES=6;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HSPG2:NM_005529:exon70:c.C9327T:p.H3109H,;ANNO=splicing:HSPG2
1	22176684	.	T	A	100	PASS	AC=180;STUDIES=15;MAC=180;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HSPG2:NM_005529:exon57:c.A7296T:p.A2432A,;ANNO=splicing:HSPG2
1	22181258	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HSPG2:NM_005529:exon49:c.C6134T:p.A2045V,;ANNO=splicing:HSPG2
1	22222458	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HSPG2:NM_005529:exon3:c.C201T:p.D67D,;ANNO=splicing:HSPG2
1	22304948	.	G	A	100	PASS	AC=19;STUDIES=7;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:CELA3B(NM_007352:c.129+1G>A)
1	22310188	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:CELA3B:NM_007352:exon5:c.A364G:p.N122D,;ANNO=splicing:CELA3B
1	22310824	.	T	C	100	PASS	AC=20925;STUDIES=21;MAC=1339;MAF=0.060;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:CELA3B:NM_007352:exon6:c.T642C:p.N214N,;ANNO=splicing:CELA3B
1	22927154	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EPHA8:NM_020526:exon14:c.G2389A:p.G797S,;ANNO=splicing:EPHA8
1	23219377	.	G	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EPHB2:NM_017449:exon7:c.G1429A:p.E477K,EPHB2:NM_004442:exon7:c.G1429A:p.E477K,;ANNO=splicing:EPHB2
1	23222908	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EPHB2:NM_017449:exon9:c.C1702T:p.R568W,EPHB2:NM_004442:exon9:c.C1705T:p.R569W,;ANNO=splicing:EPHB2
1	23415545	.	T	G	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LUZP1:NM_033631:exon5:c.A3074C:p.E1025A,LUZP1:NM_001142546:exon4:c.A3074C:p.E1025A,;ANNO=splicing:LUZP1
1	23757529	.	G	A	100	PASS	AC=35;STUDIES=11;MAC=35;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:ASAP3:NM_001143778:exon23:c.C2609T:p.P870L,ASAP3:NM_017707:exon24:c.C2636T:p.P879L,;ANNO=nonsynonymous:ASAP3:NM_001143778:exon23:c.C2609A:p.P870Q,ASAP3:NM_017707:exon24:c.C2636A:p.P879Q,;ANNO=splicing:ASAP3;ANNO=splicing:ASAP3
1	23757529	.	G	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:ASAP3:NM_001143778:exon23:c.C2609T:p.P870L,ASAP3:NM_017707:exon24:c.C2636T:p.P879L,;ANNO=nonsynonymous:ASAP3:NM_001143778:exon23:c.C2609A:p.P870Q,ASAP3:NM_017707:exon24:c.C2636A:p.P879Q,;ANNO=splicing:ASAP3;ANNO=splicing:ASAP3
1	23761026	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:ASAP3:NM_001143778:exon17:c.G1808C:p.G603A,ASAP3:NM_017707:exon18:c.G1835C:p.G612A,;ANNO=splicing:ASAP3
1	23761027	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:ASAP3:NM_001143778:exon17:c.G1807A:p.G603S,ASAP3:NM_017707:exon18:c.G1834A:p.G612S,;ANNO=splicing:ASAP3
1	23765240	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ASAP3:NM_001143778:exon11:c.C1075T:p.H359Y,ASAP3:NM_017707:exon12:c.C1102T:p.H368Y,;ANNO=splicing:ASAP3
1	23779190	.	C	T	100	PASS	AC=31;STUDIES=8;MAC=31;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ASAP3:NM_001143778:exon4:c.G423A:p.Q141Q,ASAP3:NM_017707:exon4:c.G423A:p.Q141Q,;ANNO=splicing:ASAP3
1	23782519	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ASAP3:NM_001143778:exon3:c.G203A:p.G68D,ASAP3:NM_017707:exon3:c.G203A:p.G68D,;ANNO=splicing:ASAP3
1	24022915	.	A	G	100	PASS	AC=20;STUDIES=3;MAC=20;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:RPL11
1	24082334	.	T	C	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TCEB3:NM_003198:exon8:c.T1871C:p.V624A,;ANNO=splicing:TCEB3
1	24143165	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HMGCL:NM_001166059:exon4:c.G348A:p.A116A,HMGCL:NM_000191:exon4:c.G348A:p.A116A,;ANNO=splicing:HMGCL
1	24394714	.	G	A	100	PASS	AC=145;STUDIES=13;MAC=145;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYOM3:NM_152372:exon26:c.C3294T:p.D1098D,;ANNO=splicing:MYOM3
1	24434562	.	C	T	100	PASS	AC=26;STUDIES=7;MAC=26;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYOM3:NM_152372:exon3:c.G163A:p.E55K,;ANNO=splicing:MYOM3
1	24663569	.	C	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GRHL3:NM_198173:exon5:c.C614T:p.S205L,GRHL3:NM_198174:exon5:c.C614T:p.S205L,GRHL3:NM_001195010:exon5:c.C476T:p.S159L,GRHL3:NM_021180:exon5:c.C629T:p.S210L,;ANNO=splicing:GRHL3
1	24669383	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GRHL3:NM_198173:exon11:c.C1287T:p.G429G,GRHL3:NM_198174:exon11:c.C1287T:p.G429G,GRHL3:NM_001195010:exon11:c.C1149T:p.G383G,GRHL3:NM_021180:exon11:c.C1302T:p.G434G,;ANNO=splicing:GRHL3
1	24669515	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GRHL3:NM_198173:exon11:c.G1419A:p.G473G,GRHL3:NM_198174:exon11:c.G1419A:p.G473G,GRHL3:NM_001195010:exon11:c.G1281A:p.G427G,GRHL3:NM_021180:exon11:c.G1434A:p.G478G,;ANNO=splicing:GRHL3
1	24690676	.	G	A	100	PASS	AC=168;STUDIES=4;MAC=168;MAF=0.038;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GRHL3:NM_198174:exon16:c.G1696A:p.E566K,;ANNO=splicing:GRHL3
1	24706144	.	T	C	100	PASS	AC=21;STUDIES=5;MAC=21;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C1orf201:NM_001199013:exon5:c.A461G:p.N154S,C1orf201:NM_001199012:exon5:c.A461G:p.N154S,C1orf201:NM_178122:exon4:c.A320G:p.N107S,C1orf201:NM_001199014:exon6:c.A185G:p.N62S,;ANNO=splicing:C1orf201
1	24782763	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NIPAL3:NM_020448:exon8:c.C773T:p.A258V,;ANNO=splicing:NIPAL3
1	25291006	.	G	T	100	PASS	AC=162;STUDIES=18;MAC=162;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:RUNX3:NM_001031680:exon1:c.C57A:p.R19R,;ANNO=splicing:RUNX3
1	25611065	.	T	C	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:RHD:NM_001127691:exon2:c.T150C:p.V50V,RHD:NM_016124:exon2:c.T150C:p.V50V,;ANNO=splicing:RHD
1	25628176	.	A	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:RHD:NM_001127691:exon5:c.A800T:p.K267M,RHD:NM_016124:exon5:c.A800T:p.K267M,;ANNO=splicing:RHD
1	25629950	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:RHD:NM_001127691:exon6:c.G939A:p.P313P,RHD:NM_016124:exon6:c.G939A:p.P313P,;ANNO=splicing:RHD
1	25633088	.	G	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:RHD:NM_016124:exon7:c.G941T:p.G314V,;ANNO=splicing:RHD
1	25648380	.	G	C	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:RHD:NM_016124:exon9:c.G1154C:p.G385A,;ANNO=splicing:RHD
1	25712334	.	A	G	100	PASS	AC=71;STUDIES=8;MAC=71;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:RHCE:NM_138617:exon5:c.T626G:p.V209G,RHCE:NM_020485:exon7:c.T941G:p.V314G,RHCE:NM_138616:exon4:c.T488G:p.V163G,;ANNO=nonsynonymous:RHCE:NM_138617:exon5:c.T626C:p.V209A,RHCE:NM_020485:exon7:c.T941C:p.V314A,RHCE:NM_138616:exon4:c.T488C:p.V163A,;ANNO=splicing:RHCE;ANNO=splicing:RHCE
1	25717241	.	A	T	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:RHCE:NM_020485:exon5:c.T800C:p.M267T,RHCE:NM_138618:exon5:c.T800C:p.M267T,;ANNO=nonsynonymous:RHCE:NM_020485:exon5:c.T800A:p.M267K,RHCE:NM_138618:exon5:c.T800A:p.M267K,;ANNO=splicing:RHCE;ANNO=splicing:RHCE
1	25735359	.	G	A	100	PASS	AC=58;STUDIES=3;MAC=58;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=2;ANNO=synonymous:RHCE:NM_138617:exon2:c.C150T:p.V50V,RHCE:NM_020485:exon2:c.C150T:p.V50V,RHCE:NM_138618:exon2:c.C150T:p.V50V,RHCE:NM_138616:exon2:c.C150T:p.V50V,;ANNO=splicing:RHCE
1	26109077	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAN1C1:NM_020379:exon11:c.C1652G:p.A551G,;ANNO=splicing:MAN1C1
1	26299049	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;TRIALLELIC;ANNO=nonsynonymous:PAFAH2:NM_000437:exon10:c.G1084C:p.D362H,;ANNO=nonsynonymous:PAFAH2:NM_000437:exon10:c.G1084A:p.D362N,;ANNO=splicing:PAFAH2;ANNO=splicing:PAFAH2
1	26299049	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:PAFAH2:NM_000437:exon10:c.G1084C:p.D362H,;ANNO=nonsynonymous:PAFAH2:NM_000437:exon10:c.G1084A:p.D362N,;ANNO=splicing:PAFAH2;ANNO=splicing:PAFAH2
1	26299050	.	G	A	100	PASS	AC=335;STUDIES=20;MAC=335;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PAFAH2:NM_000437:exon10:c.C1083T:p.L361L,;ANNO=splicing:PAFAH2
1	26303173	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PAFAH2:NM_000437:exon8:c.G758A:p.R253Q,;ANNO=splicing:PAFAH2
1	26310438	.	T	C	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PAFAH2:NM_000437:exon6:c.A551G:p.Q184R,;ANNO=splicing:PAFAH2
1	26361497	.	T	C	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EXTL1(NM_004455:c.1848+2T>C)
1	26393826	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRIM63(NM_032588:c.159+1G>A)
1	26508893	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CNKSR1:NM_006314:exon5:c.C519T:p.I173I,;ANNO=splicing:CNKSR1
1	26510563	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CNKSR1:NM_006314:exon10:c.C857T:p.T286M,;ANNO=splicing:CNKSR1
1	26515261	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CNKSR1(NM_006314:c.1690-2A>G)
1	26515264	.	C	T	100	PASS	AC=29;STUDIES=9;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CNKSR1:NM_006314:exon20:c.C1692T:p.D564D,;ANNO=splicing:CNKSR1
1	26526375	.	G	A	100	PASS	AC=267;STUDIES=21;MAC=267;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CATSPER4:NM_198137:exon7:c.G813A:p.Q271Q,;ANNO=splicing:CATSPER4
1	26570657	.	G	T	100	PASS	AC=76;STUDIES=17;MAC=76;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CEP85:NM_022778:exon3:c.G56T:p.S19I,;ANNO=splicing:CEP85
1	26598562	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CEP85:NM_022778:exon11:c.G1794T:p.Q598H,;ANNO=splicing:CEP85
1	26612032	.	G	A	100	PASS	AC=74;STUDIES=15;MAC=74;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UBXN11:NM_001077262:exon6:c.C415T:p.R139C,UBXN11:NM_183008:exon11:c.C775T:p.R259C,UBXN11:NM_145345:exon10:c.C676T:p.R226C,;ANNO=splicing:UBXN11
1	26623485	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UBXN11:NM_183008:exon8:c.C357T:p.A119A,UBXN11:NM_145345:exon7:c.C258T:p.A86A,;ANNO=splicing:UBXN11
1	26629304	.	C	T	100	PASS	AC=63;STUDIES=15;MAC=63;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UBXN11:NM_001077262:exon2:c.G71A:p.G24E,UBXN11:NM_183008:exon3:c.G71A:p.G24E,UBXN11:NM_145345:exon3:c.G71A:p.G24E,;ANNO=splicing:UBXN11
1	26644537	.	C	A	100	PASS	AC=287;STUDIES=20;MAC=287;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CD52:NM_001803:exon1:c.C29A:p.T10N,;ANNO=splicing:UBXN11
1	26650800	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AIM1L:NM_001039775:exon18:c.G4580A:p.R1527H,;ANNO=splicing:AIM1L
1	26650801	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AIM1L:NM_001039775:exon18:c.C4579T:p.R1527C,;ANNO=splicing:AIM1L
1	26664968	.	C	T	100	PASS	AC=8103;STUDIES=19;MAC=8103;MAF=0.400;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AIM1L:NM_001039775:exon7:c.G3345A:p.L1115L,;ANNO=splicing:AIM1L
1	26688125	.	T	C	100	PASS	AC=27;STUDIES=2;MAC=27;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ZNF683
1	26689518	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZNF683:NM_001114759:exon5:c.C1142T:p.S381L,ZNF683:NM_173574:exon5:c.C1142T:p.S381L,;ANNO=splicing:ZNF683
1	26774050	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DHDDS:NM_024887:exon6:c.G441A:p.K147K,DHDDS:NM_205861:exon6:c.G441A:p.K147K,;ANNO=splicing:DHDDS
1	27098992	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ARID1A:NM_006015:exon13:c.G3408A:p.A1136A,ARID1A:NM_139135:exon13:c.G3408A:p.A1136A,;ANNO=splicing:ARID1A
1	27177723	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZDHHC18(NM_032283:c.936+1G>A)
1	27223792	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GPATCH3:NM_022078:exon2:c.G876A:p.E292E,;ANNO=splicing:GPATCH3
1	27250580	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:NUDC:NM_006600:exon2:c.C82G:p.L28V,;ANNO=splicing:NUDC
1	27428621	.	C	T	100	PASS	AC=16;STUDIES=3;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC9A1:NM_003047:exon9:c.G1821A:p.Q607Q,;ANNO=splicing:SLC9A1
1	27679979	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SYTL1:NM_032872:exon14:c.G1513A:p.G505S,SYTL1:NM_001193308:exon14:c.G1549A:p.G517S,;ANNO=splicing:SYTL1
1	27688743	.	T	C	100	PASS	AC=67;STUDIES=16;MAC=67;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MAP3K6(NM_004672:c.1255-2A>G)
1	27699626	.	C	T	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FCN3(NM_173452:c.360+1G>A,NM_003665:c.393+1G>A)
1	27699753	.	G	A	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FCN3:NM_173452:exon4:c.C234T:p.G78G,FCN3:NM_003665:exon5:c.C267T:p.G89G,;ANNO=splicing:FCN3
1	27700455	.	C	T	100	PASS	AC=34;STUDIES=12;MAC=34;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FCN3(NM_173452:c.232+1G>A,NM_003665:c.232+1G>A)
1	27949553	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:FGR:NM_001042747:exon4:c.C329T:p.T110I,FGR:NM_001042729:exon4:c.C329T:p.T110I,FGR:NM_005248:exon4:c.C329T:p.T110I,;ANNO=nonsynonymous:FGR:NM_001042747:exon4:c.C329A:p.T110N,FGR:NM_001042729:exon4:c.C329A:p.T110N,FGR:NM_005248:exon4:c.C329A:p.T110N,;ANNO=splicing:FGR;ANNO=splicing:FGR
1	28128190	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STX12:NM_177424:exon4:c.G290A:p.R97H,;ANNO=splicing:STX12
1	28261756	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SMPDL3B(NM_014474:c.61+1G>T,NM_001009568:c.61+1G>T)
1	28271744	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SMPDL3B:NM_014474:exon2:c.G63A:p.G21G,SMPDL3B:NM_001009568:exon2:c.G63A:p.G21G,;ANNO=splicing:SMPDL3B
1	28807116	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PHACTR4:NM_023923:exon8:c.G1790A:p.R597Q,PHACTR4:NM_001048183:exon9:c.G1760A:p.R587Q,;ANNO=splicing:PHACTR4
1	28861771	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RCC1:NM_001269:exon6:c.A540G:p.G180G,RCC1:NM_001048199:exon8:c.A540G:p.G180G,RCC1:NM_001048195:exon7:c.A591G:p.G197G,RCC1:NM_001048194:exon7:c.A633G:p.G211G,;ANNO=splicing:RCC1
1	29063559	.	A	C	100	PASS	AC=1999;STUDIES=3;MAC=1;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:YTHDF2
1	29527028	.	G	A	100	PASS	AC=170;STUDIES=17;MAC=170;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MECR:NM_001024732:exon7:c.C602T:p.A201V,MECR:NM_016011:exon7:c.C830T:p.A277V,;ANNO=splicing:MECR
1	29616224	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:PTPRU:NM_005704:exon15:c.C2348T:p.P783L,;ANNO=splicing:PTPRU
1	31454160	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PUM1:NM_001020658:exon8:c.C1251T:p.I417I,PUM1:NM_014676:exon8:c.C1251T:p.I417I,;ANNO=splicing:PUM1
1	31468066	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PUM1:NM_001020658:exon6:c.G722A:p.G241D,PUM1:NM_014676:exon6:c.G722A:p.G241D,;ANNO=splicing:PUM1
1	32133177	.	G	A	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL16A1:NM_001856:exon52:c.C3356T:p.P1119L,;ANNO=splicing:COL16A1
1	32148936	.	T	A	100	PASS	AC=132;STUDIES=8;MAC=132;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL16A1:NM_001856:exon35:c.A2414T:p.Q805L,;ANNO=splicing:COL16A1
1	32154650	.	C	A	100	PASS	AC=328;STUDIES=9;MAC=328;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL16A1(NM_001856:c.1656+1G>T)
1	32155452	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL16A1:NM_001856:exon23:c.G1510T:p.G504C,;ANNO=splicing:COL16A1
1	32158076	.	T	C	100	PASS	AC=161;STUDIES=18;MAC=161;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL16A1:NM_001856:exon16:c.A1193G:p.K398R,;ANNO=splicing:COL16A1
1	32164206	.	T	G	100	PASS	AC=15146;STUDIES=21;MAC=7270;MAF=0.324;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:COL16A1:NM_001856:exon5:c.A268C:p.R90R,;ANNO=splicing:COL16A1
1	32201182	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BAI2:NM_001703:exon24:c.G3352A:p.G1118R,;ANNO=splicing:BAI2
1	32204230	.	C	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BAI2:NM_001703:exon17:c.G2603C:p.G868A,;ANNO=splicing:BAI2
1	32265002	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPOCD1:NM_144569:exon7:c.G1868A:p.R623H,;ANNO=splicing:SPOCD1
1	32669645	.	C	T	100	PASS	AC=282;STUDIES=20;MAC=282;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCDC28B:NM_024296:exon3:c.C330T:p.F110F,;ANNO=splicing:CCDC28B
1	32676873	.	C	T	100	PASS	AC=27;STUDIES=6;MAC=27;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DCDC2B:NM_001099434:exon2:c.C267T:p.H89H,;ANNO=splicing:DCDC2B
1	32797183	.	A	G	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HDAC1:NM_004964:exon10:c.A1088G:p.K363R,;ANNO=splicing:HDAC1
1	33065688	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZBTB8A:NM_001040441:exon5:c.A994G:p.I332V,;ANNO=splicing:ZBTB8A
1	33234254	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA1522:NM_001198973:exon4:c.C287T:p.S96F,KIAA1522:NM_001198972:exon4:c.C287T:p.S96F,KIAA1522:NM_020888:exon4:c.C464T:p.S155F,;ANNO=splicing:KIAA1522
1	33245687	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:YARS:NM_003680:exon11:c.A1333G:p.I445V,;ANNO=splicing:YARS
1	33361344	.	G	C	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMEM54:NM_033504:exon4:c.C271G:p.R91G,;ANNO=splicing:TMEM54
1	33562469	.	G	A	100	PASS	AC=23;STUDIES=12;MAC=23;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ADC:NM_052998:exon9:c.G915A:p.E305E,;ANNO=splicing:ADC
1	33583504	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADC:NM_052998:exon11:c.A1031C:p.K344T,;ANNO=splicing:ADC
1	34033193	.	G	A	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CSMD2:NM_052896:exon54:c.C8311T:p.L2771L,;ANNO=splicing:CSMD2
1	34083216	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CSMD2:NM_052896:exon38:c.G5709A:p.T1903T,;ANNO=splicing:CSMD2
1	34158655	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CSMD2:NM_052896:exon25:c.C3807T:p.A1269A,;ANNO=splicing:CSMD2
1	34190951	.	C	G	100	PASS	AC=104;STUDIES=14;MAC=104;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CSMD2:NM_052896:exon17:c.G2574C:p.E858D,;ANNO=splicing:CSMD2
1	34192286	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CSMD2:NM_052896:exon16:c.C2249G:p.A750G,;ANNO=splicing:CSMD2
1	34401554	.	A	G	100	PASS	AC=68;STUDIES=15;MAC=68;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CSMD2:NM_052896:exon4:c.T399C:p.V133V,;ANNO=splicing:CSMD2
1	34666374	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C1orf94:NM_032884:exon3:c.A441G:p.E147E,C1orf94:NM_001134734:exon3:c.A1011G:p.E337E,;ANNO=splicing:C1orf94
1	34678007	.	G	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C1orf94:NM_032884:exon6:c.G1151T:p.G384V,C1orf94:NM_001134734:exon6:c.G1721T:p.G574V,;ANNO=splicing:C1orf94
1	35485203	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZMYM6:NM_007167:exon4:c.C179G:p.A60G,;ANNO=splicing:ZMYM6
1	35496149	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZMYM6:NM_007167:exon2:c.A92G:p.Q31R,;ANNO=splicing:ZMYM6
1	36204057	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CLSPN:NM_001190481:exon20:c.T3365C:p.M1122T,CLSPN:NM_022111:exon21:c.T3557C:p.M1186T,;ANNO=splicing:CLSPN
1	36208741	.	C	T	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLSPN(NM_022111:c.3143+1G>A,NM_001190481:c.2951+1G>A)
1	36552305	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:TEKT2:NM_014466:exon5:c.C489A:p.C163X,;ANNO=splicing:TEKT2
1	36552447	.	G	A	100	PASS	AC=155;STUDIES=8;MAC=155;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TEKT2:NM_014466:exon5:c.G631A:p.G211S,;ANNO=splicing:TEKT2
1	36552448	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:TEKT2:NM_014466:exon5:c.G632A:p.G211D,;ANNO=splicing:TEKT2
1	36553330	.	C	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TEKT2:NM_014466:exon9:c.C1001A:p.A334E,;ANNO=splicing:TEKT2
1	36819966	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:STK40:NM_032017:exon7:c.A622G:p.R208G,;ANNO=splicing:STK40
1	36921980	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MRPS15(NM_031280:c.444-1G>A)
1	36934758	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:CSF3R:NM_172313:exon12:c.G1575C:p.M525I,CSF3R:NM_156039:exon12:c.G1575C:p.M525I,CSF3R:NM_000760:exon12:c.G1575C:p.M525I,;ANNO=nonsynonymous:CSF3R:NM_172313:exon12:c.G1575A:p.M525I,CSF3R:NM_156039:exon12:c.G1575A:p.M525I,CSF3R:NM_000760:exon12:c.G1575A:p.M525I,;ANNO=splicing:CSF3R;ANNO=splicing:CSF3R
1	37285454	.	A	C	100	PASS	AC=19;STUDIES=2;MAC=19;MAF=0.035;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GRIK3:NM_000831:exon12:c.T1756G:p.F586V,;ANNO=splicing:GRIK3
1	37307336	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GRIK3(NM_000831:c.1530+1G>A)
1	37948140	.	T	C	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZC3H12A:NM_025079:exon5:c.T924C:p.Y308Y,;ANNO=splicing:ZC3H12A
1	38032607	.	C	T	100	PASS	AC=66;STUDIES=7;MAC=66;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GNL2:NM_013285:exon16:c.G2045A:p.R682Q,;ANNO=splicing:GNL2
1	38058407	.	C	T	100	PASS	AC=15;STUDIES=7;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GNL2:NM_013285:exon3:c.G150A:p.R50R,;ANNO=splicing:GNL2
1	38059364	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GNL2:NM_013285:exon2:c.A148G:p.R50G,;ANNO=splicing:GNL2
1	38079563	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RSPO1:NM_001038633:exon7:c.A438A:p.T146T,;ANNO=splicing:RSPO1
1	38148833	.	C	A	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf109(NM_017850:c.574-1G>T)
1	38172736	.	C	T	100	PASS	AC=52;STUDIES=12;MAC=52;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CDCA8:NM_018101:exon10:c.C798T:p.S266S,;ANNO=splicing:CDCA8
1	38186226	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EPHA10:NM_001099439:exon13:c.C2209T:p.R737W,;ANNO=splicing:EPHA10
1	38189044	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:EPHA10:NM_001099439:exon9:c.G1773A:p.R591R,;ANNO=splicing:EPHA10
1	38262417	.	T	G	100	PASS	AC=97;STUDIES=2;MAC=97;MAF=0.212;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:MANEAL:NM_001113482:exon3:c.T662G:p.V221G,MANEAL:NM_001031740:exon3:c.T662G:p.V221G,;ANNO=splicing:MANEAL
1	38262492	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MANEAL:NM_001113482:exon3:c.C737T:p.T246M,MANEAL:NM_001031740:exon3:c.C737T:p.T246I,;ANNO=splicing:MANEAL
1	38289383	.	T	C	100	PASS	AC=6243;STUDIES=22;MAC=6243;MAF=0.258;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MTF1:NM_005955:exon8:c.A1170G:p.T390T,;ANNO=splicing:MTF1
1	38463541	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FHL3:NM_004468:exon5:c.C503T:p.T168M,;ANNO=splicing:FHL3
1	38488372	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UTP11L:NM_016037:exon7:c.G569A:p.R190Q,;ANNO=splicing:UTP11L
1	39353636	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RHBDL2:NM_017821:exon7:c.C731T:p.P244L,;ANNO=splicing:RHBDL2
1	39384638	.	C	T	100	PASS	AC=25;STUDIES=12;MAC=25;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RHBDL2(NM_017821:c.246+1G>A)
1	39494611	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:NDUFS5:NM_004552:exon2:c.C215T:p.T72M,NDUFS5:NM_001184979:exon2:c.C215T:p.T72M,;ANNO=splicing:NDUFS5
1	39758439	.	G	T	100	PASS	AC=99;STUDIES=18;MAC=99;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MACF1:NM_012090:exon18:c.G1931T:p.G644V,;ANNO=splicing:MACF1
1	39782063	.	G	A	100	PASS	AC=43;STUDIES=12;MAC=43;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MACF1:NM_012090:exon29:c.G3465A:p.K1155K,;ANNO=splicing:MACF1
1	39784125	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MACF1:NM_012090:exon31:c.C3798T:p.R1266R,;ANNO=splicing:MACF1
1	39838268	.	G	C	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MACF1:NM_012090:exon48:c.G7027C:p.G2343R,MACF1:NM_033044:exon16:c.G8533C:p.G2845R,;ANNO=splicing:MACF1
1	39852860	.	C	T	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MACF1:NM_012090:exon54:c.C8160T:p.A2720A,MACF1:NM_033044:exon22:c.C9666T:p.A3222A,;ANNO=splicing:MACF1
1	39977575	.	C	T	100	PASS	AC=3030;STUDIES=5;MAC=704;MAF=0.189;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=3;ANNO=synonymous:BMP8A:NM_181809:exon3:c.C672T:p.D224D,;ANNO=splicing:BMP8A
1	40307584	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TRIT1:NM_017646:exon11:c.G1236A:p.A412A,;ANNO=splicing:TRIT1
1	40535362	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CAP1:NM_006367:exon9:c.C809T:p.A270V,CAP1:NM_001105530:exon9:c.C809T:p.A270V,;ANNO=splicing:CAP1
1	40535363	.	C	T	100	PASS	AC=46;STUDIES=13;MAC=46;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:CAP1:NM_006367:exon9:c.C810T:p.A270A,CAP1:NM_001105530:exon9:c.C810T:p.A270A,;ANNO=splicing:CAP1
1	40535953	.	A	T	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:CAP1:NM_006367:exon10:c.A1116T:p.V372V,CAP1:NM_001105530:exon10:c.A1116T:p.V372V,;ANNO=splicing:CAP1
1	40544330	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PPT1:NM_001142604:exon4:c.G319C:p.G107R,PPT1:NM_000310:exon7:c.G628C:p.G210R,;ANNO=splicing:PPT1
1	40557070	.	T	A	100	PASS	AC=27;STUDIES=9;MAC=27;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PPT1:NM_000310:exon4:c.A364T:p.R122W,;ANNO=splicing:PPT1
1	40557071	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PPT1:NM_000310:exon4:c.G363T:p.L121L,;ANNO=splicing:PPT1
1	40773119	.	G	T	100	PASS	AC=32;STUDIES=6;MAC=32;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:COL9A2:NM_001852:exon19:c.C1007A:p.A336E,;ANNO=splicing:COL9A2
1	40775937	.	G	A	100	PASS	AC=681;STUDIES=20;MAC=681;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL9A2:NM_001852:exon14:c.C737T:p.T246M,;ANNO=splicing:COL9A2
1	40776766	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL9A2:NM_001852:exon12:c.C629T:p.P210L,;ANNO=splicing:COL9A2
1	40778246	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:COL9A2:NM_001852:exon6:c.G339A:p.P113P,;ANNO=splicing:COL9A2
1	40874410	.	C	T	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SMAP2:NM_001198979:exon3:c.C308T:p.P103L,SMAP2:NM_001198980:exon3:c.C83T:p.P28L,SMAP2:NM_022733:exon3:c.C323T:p.P108L,SMAP2:NM_001198978:exon3:c.C233T:p.P78L,;ANNO=splicing:SMAP2
1	40874411	.	G	A	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SMAP2(NM_022733:c.323+1G>A,NM_001198978:c.233+1G>A,NM_001198979:c.308+1G>A,NM_001198980:c.83+1G>A)
1	40880944	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SMAP2:NM_001198979:exon7:c.A557G:p.D186G,SMAP2:NM_001198980:exon7:c.A332G:p.D111G,SMAP2:NM_022733:exon7:c.A572G:p.D191G,SMAP2:NM_001198978:exon7:c.A482G:p.D161G,;ANNO=splicing:SMAP2
1	40947434	.	G	T	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:ZNF642(NM_198494:c.127-1G>T)
1	40955200	.	G	C	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF642(NM_198494:c.346-1G>C)
1	41468787	.	C	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CTPS:NM_001905:exon12:c.C1191T:p.G397G,;ANNO=splicing:CTPS
1	41475832	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CTPS(NM_001905:c.1691-1G>C)
1	41541123	.	A	G	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCMH1:NM_001172218:exon10:c.T533C:p.V178A,SCMH1:NM_001172220:exon8:c.T533C:p.V178A,SCMH1:NM_012236:exon9:c.T575C:p.V192A,SCMH1:NM_001172222:exon3:c.T242C:p.V81A,SCMH1:NM_001031694:exon9:c.T716C:p.V239A,SCMH1:NM_001172219:exon9:c.T746C:p.V249A,SCMH1:NM_001172221:exon8:c.T533C:p.V178A,;ANNO=splicing:SCMH1
1	42671431	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FOXJ3(NM_001198850:c.630+2T>G,NM_001198851:c.630+2T>G,NM_014947:c.630+2T>G)
1	42875857	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:RIMKLA:NM_173642:exon4:c.C684G:p.L228L,;ANNO=synonymous:RIMKLA:NM_173642:exon4:c.C684T:p.L228L,;ANNO=splicing:RIMKLA;ANNO=splicing:RIMKLA
1	43004982	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC30(NM_001080850:c.255+1G>A)
1	43223453	.	C	A	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LEPRE1(NM_022356:c.1080+1G>T,NM_001146289:c.1080+1G>T)
1	43396718	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC2A1:NM_006516:exon3:c.C274A:p.R92R,;ANNO=splicing:SLC2A1
1	43621877	.	A	G	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM183A:NM_001101376:exon4:c.A298G:p.I100V,;ANNO=splicing:FAM183A
1	43630315	.	T	A	100	PASS	AC=162;STUDIES=19;MAC=162;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EBNA1BP2:NM_006824:exon8:c.A869T:p.N290I,EBNA1BP2:NM_001159936:exon9:c.A1034T:p.N345I,;ANNO=splicing:EBNA1BP2
1	43771013	.	C	T	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TIE1:NM_005424:exon3:c.C483T:p.N161N,;ANNO=splicing:TIE1
1	43772665	.	G	A	100	PASS	AC=68;STUDIES=6;MAC=68;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TIE1:NM_005424:exon4:c.G639A:p.R213R,;ANNO=splicing:TIE1
1	43779095	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TIE1:NM_005424:exon13:c.C2217T:p.N739N,;ANNO=splicing:TIE1
1	43803600	.	T	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MPL(NM_005373:c.79+2T>A)
1	43803903	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MPL(NM_005373:c.212+1G>A)
1	43805240	.	A	G	100	PASS	AC=883;STUDIES=22;MAC=883;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MPL:NM_005373:exon4:c.A690G:p.E230E,;ANNO=splicing:MPL
1	43817974	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MPL:NM_005373:exon11:c.G1653A:p.P551P,;ANNO=splicing:MPL
1	43831295	.	C	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ELOVL1
1	43900872	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SZT2:NM_015284:exon41:c.G5735A:p.R1912Q,;ANNO=splicing:SZT2
1	43907176	.	C	T	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SZT2:NM_015284:exon53:c.C7342T:p.R2448C,;ANNO=splicing:SZT2
1	43916009	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SZT2:NM_015284:exon71:c.C9986G:p.S3329C,;ANNO=splicing:SZT2
1	43917098	.	C	G	100	PASS	AC=277;STUDIES=9;MAC=277;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HYI:NM_001190880:exon7:c.G743C:p.C248S,;ANNO=splicing:HYI(NM_031207:c.742+1G>C)
1	43917469	.	C	A	100	PASS	AC=31;STUDIES=11;MAC=31;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HYI:NM_001190880:exon5:c.G555T:p.M185I,HYI:NM_031207:exon5:c.G555T:p.M185I,;ANNO=splicing:HYI
1	43917518	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HYI:NM_001190880:exon5:c.C506T:p.A169V,HYI:NM_031207:exon5:c.C506T:p.A169V,;ANNO=splicing:HYI
1	44075054	.	G	A	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PTPRF:NM_130440:exon21:c.G3831A:p.R1277R,PTPRF:NM_002840:exon22:c.G3858A:p.R1286R,;ANNO=splicing:PTPRF
1	44084720	.	G	C	100	PASS	AC=29;STUDIES=5;MAC=29;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PTPRF:NM_130440:exon26:c.G4466C:p.S1489T,PTPRF:NM_002840:exon27:c.G4493C:p.S1498T,;ANNO=splicing:PTPRF
1	44169691	.	G	A	100	PASS	AC=37;STUDIES=13;MAC=37;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KDM4A:NM_014663:exon21:c.G2962A:p.V988M,;ANNO=splicing:KDM4A
1	44290403	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ST3GAL3:NM_174971:exon4:c.C162T:p.L54L,ST3GAL3:NM_174963:exon5:c.C255T:p.L85L,ST3GAL3:NM_174968:exon5:c.C210T:p.L70L,;ANNO=splicing:ST3GAL3
1	44360055	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ST3GAL3:NM_174964:exon6:c.G348T:p.R116R,ST3GAL3:NM_006279:exon6:c.G303T:p.R101R,ST3GAL3:NM_174967:exon6:c.G303T:p.R101R,ST3GAL3:NM_174971:exon6:c.G417T:p.R139R,ST3GAL3:NM_174963:exon7:c.G510T:p.R170R,ST3GAL3:NM_174970:exon5:c.G255T:p.R85R,ST3GAL3:NM_174966:exon6:c.G303T:p.R101R,ST3GAL3:NM_174969:exon5:c.G255T:p.R85R,ST3GAL3:NM_174968:exon7:c.G465T:p.R155R,ST3GAL3:NM_174965:exon6:c.G348T:p.R116R,;ANNO=splicing:ST3GAL3
1	44438087	.	C	T	100	PASS	AC=23;STUDIES=3;MAC=23;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DPH2:NM_001039589:exon5:c.C662T:p.A221V,DPH2:NM_001384:exon6:c.C1346T:p.A449V,;ANNO=splicing:DPH2
1	44467986	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:SLC6A9:NM_201649:exon8:c.C1180T:p.R394W,SLC6A9:NM_001024845:exon8:c.C961T:p.R321W,SLC6A9:NM_006934:exon7:c.C1018T:p.R340W,;ANNO=splicing:SLC6A9
1	45098016	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RNF220:NM_018150:exon6:c.C908G:p.T303S,;ANNO=splicing:RNF220
1	45253226	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BEST4:NM_153274:exon1:c.G152A:p.R51Q,;ANNO=splicing:BEST4
1	45253227	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:BEST4:NM_153274:exon1:c.C151A:p.R51R,;ANNO=splicing:BEST4
1	45293075	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PTCH2:NM_001166292:exon15:c.G2370A:p.Q790Q,PTCH2:NM_003738:exon15:c.G2370A:p.Q790Q,;ANNO=splicing:PTCH2
1	45796852	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MUTYH(NM_001128425:c.1476+2C>T,NM_012222:c.1467+2C>T,NM_001048174:c.1392+2C>T,NM_001048173:c.1392+2C>T,NM_001048172:c.1395+2C>T,NM_001048171:c.1434+2C>T)
1	45797228	.	C	T	100	PASS	AC=78;STUDIES=14;MAC=78;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MUTYH:NM_001048173:exon13:c.G1103A:p.G368D,MUTYH:NM_001048172:exon13:c.G1106A:p.G369D,MUTYH:NM_001048174:exon13:c.G1103A:p.G368D,MUTYH:NM_001128425:exon13:c.G1187A:p.G396D,MUTYH:NM_012222:exon13:c.G1178A:p.G393D,MUTYH:NM_001048171:exon13:c.G1145A:p.G382D,;ANNO=splicing:MUTYH
1	45797760	.	T	C	100	PASS	AC=18;STUDIES=2;MAC=18;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MUTYH(NM_001128425:c.933-2A>G,NM_012222:c.924-2A>G,NM_001048174:c.849-2A>G,NM_001048173:c.849-2A>G,NM_001048172:c.852-2A>G,NM_001048171:c.891-2A>G)
1	45797839	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MUTYH:NM_001048173:exon10:c.G848A:p.R283K,MUTYH:NM_001048172:exon10:c.G851A:p.R284K,MUTYH:NM_001048174:exon10:c.G848A:p.R283K,MUTYH:NM_001128425:exon10:c.G932A:p.R311K,MUTYH:NM_012222:exon10:c.G923A:p.R308K,MUTYH:NM_001048171:exon10:c.G890A:p.R297K,;ANNO=splicing:MUTYH
1	46034900	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:AKR1A1:NM_006066:exon9:c.C911G:p.T304R,AKR1A1:NM_153326:exon8:c.C911G:p.T304R,AKR1A1:NM_001202414:exon10:c.C911G:p.T304R,AKR1A1:NM_001202413:exon9:c.C911G:p.T304R,;ANNO=nonsynonymous:AKR1A1:NM_006066:exon9:c.C911T:p.T304M,AKR1A1:NM_153326:exon8:c.C911T:p.T304M,AKR1A1:NM_001202414:exon10:c.C911T:p.T304M,AKR1A1:NM_001202413:exon9:c.C911T:p.T304M,;ANNO=splicing:AKR1A1;ANNO=splicing:AKR1A1
1	46495139	.	T	C	100	PASS	AC=42;STUDIES=14;MAC=42;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MAST2:NM_015112:exon19:c.T2220C:p.D740D,;ANNO=splicing:MAST2
1	46527601	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PIK3R3:NM_003629:exon6:c.G764A:p.R255Q,PIK3R3:NM_001114172:exon7:c.G764A:p.R255Q,;ANNO=splicing:PIK3R3
1	46527602	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:PIK3R3:NM_003629:exon6:c.C763T:p.R255X,PIK3R3:NM_001114172:exon7:c.C763T:p.R255X,;ANNO=splicing:PIK3R3
1	46655130	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:POMGNT1:NM_017739:exon21:c.C1895T:p.S632L,;ANNO=splicing:POMGNT1
1	46657769	.	C	T	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:POMGNT1(NM_017739:c.1539+1G>A)
1	46661684	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:POMGNT1:NM_017739:exon5:c.G420A:p.T140T,;ANNO=splicing:POMGNT1
1	46661749	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:POMGNT1:NM_017739:exon5:c.G355A:p.V119M,;ANNO=splicing:POMGNT1
1	46726931	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RAD54L(NM_001142548:c.766-2A>G,NM_003579:c.766-2A>G)
1	46726933	.	A	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RAD54L:NM_001142548:exon9:c.A767T:p.E256V,RAD54L:NM_003579:exon8:c.A767T:p.E256V,;ANNO=splicing:RAD54L
1	46739296	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RAD54L:NM_001142548:exon15:c.G1487C:p.G496A,RAD54L:NM_003579:exon14:c.G1487C:p.G496A,;ANNO=splicing:RAD54L
1	46763957	.	T	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LRRC41:NM_006369:exon2:c.A285G:p.K95K,;ANNO=splicing:LRRC41
1	46810815	.	A	G	100	PASS	AC=18;STUDIES=8;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NSUN4:NM_199044:exon2:c.A436G:p.R146G,;ANNO=splicing:NSUN4
1	46812747	.	C	T	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NSUN4:NM_199044:exon3:c.C592T:p.R198C,;ANNO=splicing:NSUN4
1	46826501	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NSUN4(NM_199044:c.878+1G>A)
1	46877284	.	T	G	100	PASS	AC=36;STUDIES=9;MAC=36;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FAAH:NM_001441:exon12:c.T1317G:p.R439R,;ANNO=splicing:FAAH
1	46976131	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DMBX1(NM_147192:c.154-2C>T)
1	47110834	.	T	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ATPAF1:NM_022745:exon7:c.A683T:p.Q228L,;ANNO=splicing:ATPAF1
1	47131036	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ATPAF1:NM_022745:exon2:c.G267A:p.R89R,ATPAF1:NM_001042546:exon2:c.G267A:p.R89R,;ANNO=splicing:ATPAF1
1	47276622	.	G	T	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CYP4B1(NM_000779:c.322+1G>T,NM_001099772:c.322+1G>T)
1	47278169	.	G	A	100	PASS	AC=22;STUDIES=4;MAC=22;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CYP4B1:NM_001099772:exon4:c.G369A:p.G123G,CYP4B1:NM_000779:exon4:c.G369A:p.G123G,;ANNO=splicing:CYP4B1
1	47283803	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CYP4B1:NM_001099772:exon11:c.G1273A:p.V425I,CYP4B1:NM_000779:exon11:c.G1270A:p.V424I,;ANNO=splicing:CYP4B1
1	47399617	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CYP4A11(NM_000778:c.1222+1G>T)
1	47399750	.	T	C	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:CYP4A11:NM_000778:exon9:c.A1090G:p.N364D,;ANNO=splicing:CYP4A11
1	47564767	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:CYP4Z1:NM_178134:exon8:c.G878A:p.S293N,;ANNO=splicing:CYP4Z1
1	47609589	.	G	T	100	PASS	AC=55;STUDIES=4;MAC=55;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:CYP4A22(NM_001010969:c.790+1G>T)
1	47610137	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CYP4A22(NM_001010969:c.897+2T>C)
1	47650768	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDZK1IP1:NM_005764:exon3:c.G178A:p.E60K,;ANNO=splicing:PDZK1IP1
1	47689770	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TAL1:NM_003189:exon3:c.C447T:p.S149S,;ANNO=splicing:TAL1
1	47735307	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:STIL:NM_001048166:exon14:c.A2615G:p.N872S,STIL:NM_003035:exon14:c.A2615G:p.N872S,;ANNO=splicing:STIL
1	47838627	.	G	A	100	PASS	AC=34;STUDIES=6;MAC=34;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CMPK1:NM_001136140:exon2:c.G172A:p.E58K,CMPK1:NM_016308:exon3:c.G319A:p.E107K,;ANNO=splicing:CMPK1
1	48694523	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC5A9:NM_001135181:exon3:c.T236C:p.I79T,SLC5A9:NM_001011547:exon3:c.T236C:p.I79T,;ANNO=splicing:SLC5A9
1	48694627	.	G	A	100	PASS	AC=16;STUDIES=3;MAC=16;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC5A9(NM_001135181:c.339+1G>A,NM_001011547:c.339+1G>A)
1	48825442	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPATA6:NM_019073:exon10:c.G910T:p.V304F,;ANNO=splicing:SPATA6
1	48861025	.	A	G	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPATA6:NM_019073:exon8:c.T782C:p.V261A,;ANNO=splicing:SPATA6
1	48865023	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPATA6:NM_019073:exon7:c.T780G:p.H260Q,;ANNO=splicing:SPATA6
1	48877259	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SPATA6:NM_019073:exon5:c.G282T:p.V94V,;ANNO=splicing:SPATA6
1	51866591	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EPS15:NM_001159969:exon7:c.C975T:p.I325I,EPS15:NM_001981:exon19:c.C1917T:p.I639I,;ANNO=splicing:EPS15
1	51913719	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EPS15:NM_001981:exon9:c.C650T:p.T217M,;ANNO=splicing:EPS15
1	52740137	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZFYVE9:NM_007324:exon7:c.C2450T:p.T817M,ZFYVE9:NM_004799:exon8:c.C2627T:p.T876M,;ANNO=splicing:ZFYVE9
1	52822056	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CC2D1B:NM_032449:exon17:c.G1955A:p.R652Q,;ANNO=splicing:CC2D1B
1	52824359	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CC2D1B:NM_032449:exon12:c.A1329G:p.P443P,;ANNO=splicing:CC2D1B
1	52826803	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CC2D1B:NM_032449:exon5:c.C320T:p.T107M,;ANNO=splicing:CC2D1B
1	52830224	.	C	T	100	PASS	AC=117;STUDIES=8;MAC=117;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CC2D1B:NM_032449:exon2:c.G69A:p.Q23Q,;ANNO=splicing:CC2D1B
1	52854114	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ORC1:NM_001190818:exon8:c.T1383C:p.S461S,ORC1:NM_004153:exon8:c.T1383C:p.S461S,;ANNO=splicing:ORC1
1	52854890	.	G	A	100	PASS	AC=44;STUDIES=8;MAC=44;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ORC1:NM_001190818:exon7:c.C1186T:p.R396W,ORC1:NM_004153:exon7:c.C1186T:p.R396W,ORC1:NM_001190819:exon7:c.C1186T:p.R396W,;ANNO=splicing:ORC1
1	52879551	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PRPF38A:NM_032864:exon6:c.T610C:p.L204L,;ANNO=splicing:PRPF38A
1	53262456	.	G	A	100	PASS	AC=465;STUDIES=13;MAC=465;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZYG11B:NM_024646:exon8:c.G1485A:p.R495R,;ANNO=splicing:ZYG11B
1	53444040	.	G	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SCP2(NM_001193599:c.753+1G>T,NM_002979:c.825+1G>T,NM_001193617:c.582+1G>T,NM_001007098:c.693+1G>T,NM_001193600:c.693+1G>T)
1	53480714	.	A	G	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCP2:NM_001193617:exon11:c.A991G:p.S331G,SCP2:NM_002979:exon12:c.A1234G:p.S412G,SCP2:NM_001193600:exon11:c.A1102G:p.S368G,SCP2:NM_001007250:exon1:c.A22G:p.S8G,SCP2:NM_001007099:exon1:c.A22G:p.S8G,SCP2:NM_001193599:exon11:c.A1162G:p.S388G,SCP2:NM_001007100:exon1:c.A22G:p.R8G,;ANNO=splicing:SCP2
1	53513608	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SCP2:NM_001193617:exon14:c.C1304T:p.S435L,SCP2:NM_002979:exon15:c.C1547T:p.S516L,SCP2:NM_001193600:exon14:c.C1415T:p.S472L,SCP2:NM_001007099:exon4:c.C335T:p.S112L,SCP2:NM_001193599:exon14:c.C1475T:p.S492L,SCP2:NM_001007100:exon4:c.C326T:p.S109L,;ANNO=splicing:SCP2
1	53712727	.	C	T	100	PASS	AC=7537;STUDIES=20;MAC=7537;MAF=0.330;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRP8:NM_033300:exon17:c.G2345A:p.R782Q,;ANNO=splicing:LRP8
1	53730068	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LRP8:NM_017522:exon9:c.A1041T:p.P347P,LRP8:NM_001018054:exon10:c.A1428T:p.P476P,LRP8:NM_004631:exon10:c.A1428T:p.P476P,LRP8:NM_033300:exon8:c.C918T:p.S306S,;ANNO=splicing:LRP8
1	54337043	.	A	G	100	PASS	AC=52;STUDIES=13;MAC=52;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:YIPF1(NM_018982:c.481+2T>C)
1	54354658	.	T	G	100	PASS	AC=1385;STUDIES=9;MAC=1385;MAF=0.180;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:YIPF1
1	54360030	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DIO1:NM_001039716:exon1:c.T147A:p.G49G,DIO1:NM_001039715:exon1:c.T147A:p.G49G,DIO1:NM_000792:exon1:c.T147A:p.G49G,;ANNO=splicing:DIO1(NM_213593:c.145+2T>A)
1	54418146	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LRRC42(NM_052940:c.473+1G>T)
1	54426146	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LRRC42:NM_052940:exon4:c.A723G:p.S241S,;ANNO=splicing:LRRC42
1	54475954	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LDLRAD1(NM_001010978:c.469+1G>A)
1	54476084	.	C	T	100	PASS	AC=31;STUDIES=4;MAC=31;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LDLRAD1(NM_001010978:c.340-1G>A)
1	54507479	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM59(NM_004872:c.543-1G>A)
1	54554268	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TCEANC2(NM_153035:c.244-2A>G)
1	54693929	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SSBP3:NM_145716:exon17:c.A1136G:p.N379S,SSBP3:NM_001009955:exon16:c.A1055G:p.N352S,SSBP3:NM_018070:exon16:c.A1076G:p.N359S,;ANNO=splicing:SSBP3
1	54707182	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SSBP3:NM_145716:exon12:c.A766C:p.I256L,SSBP3:NM_001009955:exon11:c.A685C:p.I229L,SSBP3:NM_018070:exon11:c.A706C:p.I236L,;ANNO=splicing:SSBP3
1	55064970	.	C	T	100	PASS	AC=339;STUDIES=19;MAC=339;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ACOT11:NM_147161:exon8:c.C766T:p.R256W,ACOT11:NM_015547:exon8:c.C766T:p.R256W,;ANNO=splicing:ACOT11
1	55067086	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ACOT11:NM_147161:exon9:c.C1029T:p.G343G,ACOT11:NM_015547:exon9:c.C1029T:p.G343G,;ANNO=splicing:ACOT11
1	55077278	.	C	T	100	PASS	AC=16;STUDIES=7;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM151A(NM_176782:c.940+1G>A)
1	55085537	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM151A:NM_176782:exon2:c.A262G:p.S88G,;ANNO=splicing:FAM151A
1	55139825	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HEATR8(NM_001039464:c.1936+1G>A)
1	55166995	.	C	T	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HEATR8:NM_001039464:exon19:c.C3285T:p.D1095D,;ANNO=splicing:HEATR8
1	55174748	.	T	A	100	PASS	AC=30;STUDIES=7;MAC=30;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HEATR8:NM_001039464:exon23:c.T3729A:p.A1243A,;ANNO=splicing:HEATR8
1	55451770	.	A	G	100	PASS	AC=31;STUDIES=6;MAC=31;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM61:NM_182532:exon2:c.A16G:p.M6V,;ANNO=splicing:TMEM61
1	55517952	.	C	T	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PCSK9:NM_174936:exon4:c.C525T:p.D175D,;ANNO=splicing:PCSK9
1	55518085	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PCSK9(NM_174936:c.657+1G>T)
1	55598218	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:USP24:NM_015306:exon31:c.A3537G:p.E1179E,;ANNO=splicing:USP24
1	57002627	.	C	T	100	PASS	AC=1175;STUDIES=21;MAC=1175;MAF=0.049;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PPAP2B:NM_003713:exon2:c.G297A:p.A99A,;ANNO=splicing:PPAP2B
1	57002628	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:PPAP2B:NM_003713:exon2:c.C296T:p.A99V,;ANNO=splicing:PPAP2B
1	57207896	.	T	C	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf168(NM_001004303:c.1543-2A>G)
1	57209939	.	C	T	100	PASS	AC=22;STUDIES=6;MAC=22;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C1orf168:NM_001004303:exon10:c.G1388A:p.C463Y,;ANNO=splicing:C1orf168
1	57224387	.	A	T	100	PASS	AC=24;STUDIES=7;MAC=24;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf168(NM_001004303:c.1098+2T>A)
1	57252848	.	C	G	100	PASS	AC=72;STUDIES=15;MAC=72;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C1orf168:NM_001004303:exon4:c.G953C:p.R318T,;ANNO=splicing:C1orf168
1	57320444	.	G	A	100	PASS	AC=59;STUDIES=2;MAC=59;MAF=0.042;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:C8A
1	59131171	.	G	A	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYSM1:NM_001085487:exon17:c.C2164T:p.R722C,;ANNO=splicing:MYSM1
1	59156090	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYSM1(NM_001085487:c.218-1G>A)
1	60019796	.	G	T	100	PASS	AC=31;STUDIES=11;MAC=31;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FGGY:NM_018291:exon8:c.G800T:p.G267V,FGGY:NM_001113411:exon8:c.G800T:p.G267V,;ANNO=splicing:FGGY
1	60019898	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FGGY:NM_018291:exon8:c.G902T:p.G301V,FGGY:NM_001113411:exon8:c.G902T:p.G301V,;ANNO=splicing:FGGY
1	60019899	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FGGY:NM_018291:exon8:c.G903T:p.G301G,FGGY:NM_001113411:exon8:c.G903T:p.G301G,;ANNO=splicing:FGGY
1	60104049	.	T	C	100	PASS	AC=63;STUDIES=12;MAC=63;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FGGY(NM_018291:c.1221+2T>C,NM_001113411:c.1221+2T>C)
1	60314854	.	A	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HOOK1:NM_015888:exon12:c.A1241G:p.E414G,;ANNO=splicing:HOOK1
1	60392209	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CYP2J2:NM_000775:exon1:c.G210A:p.L70L,;ANNO=splicing:CYP2J2
1	62374153	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:INADL:NM_176877:exon25:c.G3491A:p.R1164Q,;ANNO=splicing:INADL
1	62579917	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:INADL:NM_176877:exon35:c.C4654T:p.R1552X,;ANNO=splicing:INADL
1	62579918	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:INADL:NM_176877:exon35:c.G4655A:p.R1552Q,;ANNO=splicing:INADL
1	62718880	.	G	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KANK4:NM_181712:exon8:c.C2541A:p.G847G,;ANNO=splicing:KANK4
1	62737151	.	C	T	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KANK4:NM_181712:exon4:c.G2011A:p.G671R,;ANNO=splicing:KANK4
1	62953070	.	T	C	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DOCK7:NM_033407:exon42:c.A5414G:p.E1805G,;ANNO=splicing:DOCK7
1	62993823	.	G	A	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DOCK7:NM_033407:exon30:c.C3842T:p.T1281M,;ANNO=splicing:DOCK7
1	63052178	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DOCK7:NM_033407:exon15:c.G1800A:p.P600P,;ANNO=splicing:DOCK7
1	63284676	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ATG4C:NM_178221:exon5:c.C395T:p.A132V,ATG4C:NM_032852:exon5:c.C395T:p.A132V,;ANNO=splicing:ATG4C
1	63974241	.	A	G	100	PASS	AC=162;STUDIES=7;MAC=162;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ITGB3BP:NM_001206739:exon3:c.T123C:p.S41S,ITGB3BP:NM_014288:exon2:c.T6C:p.P2P,;ANNO=splicing:ITGB3BP
1	64089432	.	G	A	100	PASS	AC=73;STUDIES=8;MAC=73;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PGM1(NM_001172818:c.300+1G>A)
1	64104470	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PGM1:NM_001172818:exon7:c.C1197T:p.T399T,PGM1:NM_001172819:exon7:c.C552T:p.T184T,PGM1:NM_002633:exon7:c.C1143T:p.T381T,;ANNO=splicing:PGM1
1	65016278	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CACHD1:NM_020925:exon2:c.G47A:p.R16Q,;ANNO=splicing:CACHD1
1	65139146	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CACHD1:NM_020925:exon19:c.C2573T:p.A858V,;ANNO=splicing:CACHD1
1	65305287	.	G	A	100	PASS	AC=13;STUDIES=7;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:JAK1:NM_002227:exon20:c.C2841T:p.D947D,;ANNO=splicing:JAK1
1	66038009	.	A	G	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LEPR:NM_001003679:exon5:c.A371G:p.D124G,LEPR:NM_001003680:exon5:c.A371G:p.D124G,LEPR:NM_001198689:exon4:c.A371G:p.D124G,LEPR:NM_001198687:exon4:c.A371G:p.D124G,LEPR:NM_002303:exon5:c.A371G:p.D124G,LEPR:NM_001198688:exon4:c.A371G:p.D124G,;ANNO=splicing:LEPR
1	67133224	.	G	A	100	PASS	AC=21;STUDIES=5;MAC=21;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SGIP1:NM_032291:exon9:c.G483A:p.P161P,;ANNO=splicing:SGIP1
1	67155874	.	C	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SGIP1:NM_032291:exon17:c.C1445G:p.S482C,;ANNO=splicing:SGIP1
1	67242087	.	G	A	100	PASS	AC=2650;STUDIES=18;MAC=2650;MAF=0.126;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TCTEX1D1(NM_152665:c.336+1G>A)
1	67288045	.	C	T	100	PASS	AC=12218;STUDIES=22;MAC=12040;MAF=0.496;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDR78:NM_024763:exon16:c.G2495A:p.R832Q,;ANNO=splicing:WDR78
1	67292502	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR78(NM_024763:c.2339+1G>A)
1	67292503	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:WDR78:NM_024763:exon15:c.C2339T:p.T780I,;ANNO=splicing:WDR78
1	67293494	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR78(NM_024763:c.2112+1G>T)
1	67450334	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MIER1:NM_001146110:exon15:c.A1341G:p.T447T,MIER1:NM_020948:exon15:c.A1341G:p.T447T,MIER1:NM_001077701:exon13:c.A1290G:p.T430T,MIER1:NM_001146112:exon15:c.A1209G:p.T403T,MIER1:NM_001077700:exon14:c.A1449G:p.T483T,MIER1:NM_001146111:exon15:c.A1341G:p.T447T,;ANNO=splicing:MIER1
1	67486131	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC35D1(NM_015139:c.797-1G>A)
1	67562003	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C1orf141:NM_001013674:exon5:c.T348C:p.A116A,;ANNO=splicing:C1orf141
1	67787286	.	T	C	100	PASS	AC=812;STUDIES=14;MAC=812;MAF=0.050;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:IL12RB2:NM_001559:exon3:c.T78C:p.D26D,;ANNO=splicing:IL12RB2
1	67816772	.	G	A	100	PASS	AC=46;STUDIES=7;MAC=46;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IL12RB2:NM_001559:exon9:c.G1258A:p.G420R,;ANNO=splicing:IL12RB2
1	67838216	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IL12RB2:NM_001559:exon11:c.A1557T:p.K519N,;ANNO=splicing:IL12RB2
1	67838217	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IL12RB2:NM_001559:exon11:c.G1558T:p.A520S,;ANNO=splicing:IL12RB2
1	68613819	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:WLS:NM_001193334:exon7:c.C861T:p.A287A,WLS:NM_001002292:exon8:c.C1128T:p.A376A,WLS:NM_024911:exon8:c.C1134T:p.A378A,;ANNO=splicing:WLS
1	70820789	.	C	T	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HHLA3:NM_001036645:exon1:c.C155T:p.A52V,HHLA3:NM_001031693:exon1:c.C155T:p.A52V,HHLA3:NM_001036646:exon1:c.C155T:p.A52V,;ANNO=splicing:HHLA3
1	70820794	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HHLA3:NM_001036645:exon1:c.T160C:p.C54R,HHLA3:NM_001031693:exon1:c.T160C:p.C54R,;ANNO=splicing:HHLA3
1	70895478	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CTH:NM_153742:exon5:c.G458A:p.R153H,CTH:NM_001190463:exon5:c.G494A:p.R165H,CTH:NM_001902:exon6:c.G590A:p.R197H,;ANNO=splicing:CTH
1	71418742	.	A	G	100	PASS	AC=103;STUDIES=6;MAC=103;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PTGER3:NM_198718:exon4:c.T1105C:p.L369L,;ANNO=splicing:PTGER3
1	74649119	.	C	T	100	PASS	AC=26;STUDIES=5;MAC=26;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LRRIQ3(NM_001105659:c.249+1G>A)
1	74665516	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FPGT(NM_001199328:c.250+1G>C,NM_001199329:c.250+1G>C,NM_003838:c.250+1G>C),FPGT-TNNI3K(NM_001199327:c.250+1G>C,NM_001112808:c.250+1G>C)
1	74670891	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FPGT:NM_003838:exon4:c.G1160A:p.S387N,;ANNO=splicing:FPGT(NM_001199329:c.343-1G>A)
1	74701787	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FPGT-TNNI3K:NM_001199327:exon4:c.T345A:p.D115E,TNNI3K:NM_015978:exon2:c.T42A:p.D14E,FPGT-TNNI3K:NM_001112808:exon4:c.T345A:p.D115E,;ANNO=splicing:FPGT-TNNI3K,TNNI3K
1	74836076	.	G	C	100	PASS	AC=25;STUDIES=8;MAC=25;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FPGT-TNNI3K:NM_001199327:exon19:c.G2075C:p.S692T,TNNI3K:NM_015978:exon17:c.G1772C:p.S591T,FPGT-TNNI3K:NM_001112808:exon19:c.G2075C:p.S692T,;ANNO=splicing:FPGT-TNNI3K,TNNI3K
1	74957950	.	G	A	100	PASS	AC=17;STUDIES=7;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TNNI3K:NM_015978:exon23:c.G2351A:p.S784N,FPGT-TNNI3K:NM_001112808:exon25:c.G2654A:p.S885N,;ANNO=splicing:FPGT-TNNI3K,TNNI3K
1	75036783	.	T	C	100	PASS	AC=7619;STUDIES=9;MAC=67;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:C1orf173
1	75055313	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf173(NM_001002912:c.2176+2T>C)
1	75065377	.	G	A	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf173(NM_001002912:c.1726+2C>T)
1	75107016	.	A	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C1orf173:NM_001002912:exon5:c.T443A:p.L148Q,;ANNO=splicing:C1orf173
1	75108781	.	C	T	100	PASS	AC=51;STUDIES=7;MAC=51;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C1orf173:NM_001002912:exon4:c.G245A:p.R82H,;ANNO=splicing:C1orf173
1	75172786	.	C	T	100	PASS	AC=25;STUDIES=4;MAC=25;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CRYZ(NM_001130042:c.732+1G>A,NM_001134759:c.321+1G>A,NM_001889:c.732+1G>A)
1	75185057	.	C	T	100	PASS	AC=19;STUDIES=9;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CRYZ(NM_001130042:c.264-1G>A,NM_001130043:c.264-1G>A,NM_001889:c.264-1G>A)
1	75685576	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC44A5:NM_152697:exon15:c.G1087A:p.A363T,SLC44A5:NM_001130058:exon15:c.G1087A:p.A363T,;ANNO=splicing:SLC44A5
1	76272666	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MSH4:NM_002440:exon3:c.C428T:p.A143V,;ANNO=splicing:MSH4
1	76313960	.	C	T	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MSH4:NM_002440:exon8:c.C1229T:p.T410M,;ANNO=splicing:MSH4
1	77093243	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ST6GALNAC3:NM_152996:exon4:c.A730C:p.K244Q,;ANNO=splicing:ST6GALNAC3
1	77629532	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PIGK:NM_005482:exon6:c.C583T:p.R195C,;ANNO=splicing:PIGK
1	78184325	.	A	G	100	PASS	AC=6340;STUDIES=21;MAC=6340;MAF=0.282;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:USP33:NM_015017:exon17:c.T1786C:p.L596L,USP33:NM_201624:exon16:c.T1693C:p.L565L,USP33:NM_201626:exon17:c.T1762C:p.L588L,;ANNO=splicing:USP33
1	79094079	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:IFI44L(NM_006820:c.478+1G>T)
1	79106805	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IFI44L:NM_006820:exon7:c.G1148A:p.R383Q,;ANNO=splicing:IFI44L
1	79121048	.	A	G	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IFI44:NM_006417:exon5:c.A692G:p.Y231C,;ANNO=splicing:IFI44
1	82435071	.	G	A	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LPHN2:NM_012302:exon13:c.G2682A:p.A894A,;ANNO=splicing:LPHN2
1	82437536	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LPHN2:NM_012302:exon15:c.T2904C:p.A968A,;ANNO=splicing:LPHN2
1	84376849	.	G	A	100	PASS	AC=42;STUDIES=6;MAC=42;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TTLL7:NM_024686:exon15:c.C1785T:p.P595P,;ANNO=splicing:TTLL7
1	84764249	.	A	G	100	PASS	AC=185;STUDIES=7;MAC=185;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SAMD13:NM_001010971:exon1:c.A9G:p.G3G,;ANNO=splicing:SAMD13
1	84878228	.	C	T	100	PASS	AC=3722;STUDIES=21;MAC=3722;MAF=0.166;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:DNASE2B:NM_058248:exon3:c.C120T:p.D40D,DNASE2B:NM_021233:exon5:c.C744T:p.D248D,;ANNO=splicing:DNASE2B
1	84961140	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RPF1(NM_025065:c.699+2T>C)
1	85029100	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CTBS:NM_004388:exon6:c.A797G:p.D266G,;ANNO=splicing:CTBS
1	85412716	.	T	A	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MCOLN2:NM_153259:exon7:c.A847T:p.T283S,;ANNO=splicing:MCOLN2
1	85417927	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MCOLN2:NM_153259:exon6:c.C746T:p.T249M,;ANNO=splicing:MCOLN2
1	85487982	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MCOLN3:NM_018298:exon10:c.C1197T:p.N399N,;ANNO=splicing:MCOLN3
1	85498555	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MCOLN3:NM_018298:exon5:c.G635A:p.R212K,;ANNO=splicing:MCOLN3
1	85594392	.	T	C	100	PASS	AC=1534;STUDIES=22;MAC=1534;MAF=0.063;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:WDR63:NM_145172:exon21:c.T2319C:p.S773S,;ANNO=splicing:WDR63
1	85643954	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYDE2:NM_032184:exon4:c.T2546C:p.V849A,;ANNO=splicing:SYDE2
1	86355295	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL24A1:NM_152890:exon32:c.G2924A:p.G975D,;ANNO=splicing:COL24A1
1	86488559	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL24A1:NM_152890:exon16:c.G2105T:p.G702V,;ANNO=splicing:COL24A1
1	86488689	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL24A1:NM_152890:exon15:c.G2051A:p.G684D,;ANNO=splicing:COL24A1
1	86515808	.	C	T	100	PASS	AC=78;STUDIES=7;MAC=78;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL24A1:NM_152890:exon11:c.G1904A:p.R635Q,;ANNO=splicing:COL24A1
1	86622024	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL24A1:NM_152890:exon1:c.C56T:p.T19M,;ANNO=splicing:COL24A1
1	86822287	.	T	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ODF2L(NM_020729:c.1272-2A>C,NM_001007022:c.1359-2A>C)
1	86889769	.	T	G	100	PASS	AC=37;STUDIES=2;MAC=37;MAF=0.083;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:CLCA2
1	86906009	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLCA2(NM_006536:c.1381+1G>A)
1	86907225	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CLCA2:NM_006536:exon9:c.A1487G:p.Q496R,;ANNO=splicing:CLCA2
1	86916415	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CLCA2:NM_006536:exon12:c.C2154T:p.N718N,;ANNO=splicing:CLCA2
1	87025754	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CLCA4:NM_012128:exon2:c.A299G:p.H100R,;ANNO=splicing:CLCA4
1	87038403	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CLCA4:NM_012128:exon9:c.G1467A:p.Q489Q,;ANNO=splicing:CLCA4
1	87185190	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SH3GLB1:NM_016009:exon3:c.A215G:p.N72S,SH3GLB1:NM_001206652:exon3:c.A215G:p.N72S,SH3GLB1:NM_001206651:exon3:c.A215G:p.N72S,;ANNO=splicing:SH3GLB1
1	87369131	.	C	A	100	PASS	AC=264;STUDIES=16;MAC=264;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SEP15:NM_004261:exon2:c.G85T:p.V29L,SEP15:NM_203341:exon2:c.G85T:p.V29L,;ANNO=splicing:SEP15
1	87379712	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SEP15:NM_004261:exon1:c.C83T:p.A28V,SEP15:NM_203341:exon1:c.C83T:p.A28V,;ANNO=splicing:SEP15
1	87797933	.	A	C	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LMO4:NM_006769:exon2:c.A235C:p.R79R,;ANNO=splicing:LMO4
1	89271181	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PKN2:NM_006256:exon11:c.C1503T:p.G501G,;ANNO=splicing:PKN2
1	89271574	.	T	C	100	PASS	AC=9704;STUDIES=19;MAC=7872;MAF=0.448;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=3;ANNO=synonymous:PKN2:NM_006256:exon12:c.T1677C:p.S559S,;ANNO=splicing:PKN2
1	89273287	.	G	A	100	PASS	AC=950;STUDIES=21;MAC=950;MAF=0.041;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PKN2:NM_006256:exon14:c.G2010A:p.K670K,;ANNO=splicing:PKN2
1	89409105	.	A	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCBL2:NM_001008662:exon11:c.T1041C:p.D347D,CCBL2:NM_001008661:exon12:c.T1143C:p.D381D,;ANNO=splicing:CCBL2
1	89418744	.	A	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCBL2(NM_001008662:c.852+2T>G,NM_001008661:c.954+2T>G)
1	89420907	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCBL2:NM_001008662:exon8:c.T687C:p.A229A,CCBL2:NM_001008661:exon9:c.T789C:p.A263A,;ANNO=splicing:CCBL2
1	89475178	.	C	G	100	PASS	AC=33;STUDIES=5;MAC=33;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:GBP3(NM_018284:c.1362-1G>C)
1	89477431	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GBP3:NM_018284:exon7:c.C1148G:p.A383G,;ANNO=splicing:GBP3
1	89478867	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;SNP_ON_RIGHT;ANNO=splicing:GBP3(NM_018284:c.868+1G>A)
1	89478868	.	G	A	100	PASS	AC=4123;STUDIES=22;MAC=4123;MAF=0.170;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:GBP3:NM_018284:exon6:c.C868T:p.R290C,;ANNO=splicing:GBP3
1	89522536	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GBP1(NM_002053:c.1155+1G>C)
1	89522537	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:GBP1:NM_002053:exon7:c.G1155A:p.A385A,;ANNO=splicing:GBP1
1	89523674	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:GBP1(NM_002053:c.874+1G>A)
1	89524999	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GBP1(NM_002053:c.428+1G>A)
1	89582675	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GBP2:NM_004120:exon6:c.C868T:p.R290C,;ANNO=splicing:GBP2
1	89616013	.	G	A	100	PASS	AC=48;STUDIES=9;MAC=48;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GBP7:NM_207398:exon6:c.C871T:p.R291W,;ANNO=splicing:GBP7
1	89630543	.	T	C	100	PASS	AC=64;STUDIES=5;MAC=64;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GBP7(NM_207398:c.190-2A>G)
1	89655720	.	C	T	100	PASS	AC=76;STUDIES=15;MAC=76;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GBP4(NM_052941:c.1197+1G>A)
1	89662987	.	C	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GBP4:NM_052941:exon2:c.G41T:p.G14V,;ANNO=splicing:GBP4
1	89734412	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GBP5:NM_001134486:exon3:c.G318A:p.K106K,GBP5:NM_052942:exon4:c.G318A:p.K106K,;ANNO=splicing:GBP5
1	89734539	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GBP5:NM_001134486:exon3:c.G191T:p.G64V,GBP5:NM_052942:exon4:c.G191T:p.G64V,;ANNO=splicing:GBP5
1	89843663	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GBP6:NM_198460:exon4:c.G320T:p.G107V,;ANNO=splicing:GBP6
1	89848434	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GBP6:NM_198460:exon8:c.A1364G:p.K455R,;ANNO=splicing:GBP6
1	91739270	.	T	C	100	PASS	AC=40;STUDIES=5;MAC=40;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HFM1:NM_001017975:exon34:c.A3771G:p.K1257K,;ANNO=splicing:HFM1
1	91850744	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HFM1:NM_001017975:exon6:c.C802T:p.P268S,;ANNO=splicing:HFM1
1	92163646	.	G	A	100	PASS	AC=201;STUDIES=18;MAC=201;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TGFBR3:NM_001195683:exon15:c.C2326T:p.P776S,TGFBR3:NM_003243:exon15:c.C2329T:p.P777S,TGFBR3:NM_001195684:exon16:c.C2326T:p.P776S,;ANNO=splicing:TGFBR3
1	92184869	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TGFBR3:NM_001195683:exon10:c.C1563T:p.S521S,TGFBR3:NM_003243:exon10:c.C1566T:p.S522S,TGFBR3:NM_001195684:exon11:c.C1563T:p.S521S,;ANNO=splicing:TGFBR3
1	92187701	.	C	A	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TGFBR3:NM_001195683:exon8:c.G886T:p.A296S,TGFBR3:NM_003243:exon8:c.G886T:p.A296S,TGFBR3:NM_001195684:exon9:c.G886T:p.A296S,;ANNO=splicing:TGFBR3
1	92441995	.	A	G	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BRDT:NM_207189:exon5:c.A618G:p.Q206Q,BRDT:NM_001726:exon5:c.A618G:p.Q206Q,;ANNO=splicing:BRDT
1	92733663	.	A	G	100	PASS	AC=171;STUDIES=8;MAC=171;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GLMN:NM_053274:exon10:c.T1007C:p.L336S,;ANNO=splicing:GLMN
1	92763086	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GLMN:NM_053274:exon3:c.C40G:p.Q14E,;ANNO=splicing:GLMN
1	93089891	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EVI5:NM_005665:exon14:c.C1621T:p.R541C,;ANNO=splicing:EVI5
1	93682193	.	A	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC18:NM_206886:exon13:c.A1720T:p.M574L,;ANNO=splicing:CCDC18
1	94037397	.	G	A	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BCAR3:NM_003567:exon9:c.C1804T:p.H602Y,;ANNO=splicing:BCAR3
1	94049576	.	A	G	100	PASS	AC=105;STUDIES=6;MAC=105;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BCAR3:NM_003567:exon6:c.T1032C:p.I344I,;ANNO=splicing:BCAR3
1	94341825	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DNTTIP2:NM_014597:exon2:c.C1666T:p.L556F,;ANNO=splicing:DNTTIP2
1	94467548	.	C	G	100	PASS	AC=87;STUDIES=17;MAC=87;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCA4:NM_000350:exon45:c.G6148C:p.V2050L,;ANNO=splicing:ABCA4
1	94476484	.	A	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABCA4:NM_000350:exon40:c.T5586A:p.G1862G,;ANNO=splicing:ABCA4
1	94502906	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCA4:NM_000350:exon25:c.G3608A:p.G1203E,;ANNO=splicing:ABCA4
1	94514424	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ABCA4:NM_000350:exon18:c.G2743A:p.D915N,;ANNO=splicing:ABCA4
1	94517190	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ABCA4:NM_000350:exon17:c.A2652G:p.E884E,;ANNO=splicing:ABCA4
1	94517254	.	C	G	100	PASS	AC=113;STUDIES=18;MAC=113;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCA4:NM_000350:exon17:c.G2588C:p.G863A,;ANNO=splicing:ABCA4
1	94577135	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCA4:NM_000350:exon3:c.G161A:p.C54Y,;ANNO=splicing:ABCA4
1	94955371	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=synonymous:ABCD3:NM_002858:exon14:c.G1248A:p.K416K,;ANNO=nonsynonymous:ABCD3:NM_002858:exon14:c.G1248T:p.K416N,;ANNO=splicing:ABCD3;ANNO=splicing:ABCD3
1	94965051	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:ABCD3:NM_002858:exon20:c.G1621C:p.V541L,;ANNO=nonsynonymous:ABCD3:NM_002858:exon20:c.G1621T:p.V541L,;ANNO=splicing:ABCD3;ANNO=splicing:ABCD3
1	95007094	.	T	C	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:F3:NM_001993:exon1:c.A99G:p.S33S,F3:NM_001178096:exon1:c.A99G:p.S33S,;ANNO=splicing:F3
1	95294047	.	A	C	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC44A3(NM_001114106:c.415-2A>C,NM_152369:c.271-2A>C)
1	95305504	.	C	A	100	PASS	AC=36;STUDIES=4;MAC=36;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC44A3:NM_001114106:exon7:c.C671A:p.A224D,SLC44A3:NM_152369:exon6:c.C527A:p.A176D,;ANNO=splicing:SLC44A3
1	95330297	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC44A3(NM_001114106:c.1238-2A>G,NM_152369:c.1094-2A>G)
1	97217055	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PTBP2:NM_021190:exon3:c.A114G:p.T38T,;ANNO=splicing:PTBP2
1	97848017	.	T	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DPYD:NM_000110:exon15:c.A1906C:p.I636L,;ANNO=splicing:DPYD
1	97915614	.	C	T	100	PASS	AC=102;STUDIES=13;MAC=102;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DPYD(NM_000110:c.1905+1G>A)
1	97915615	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;TRIALLELIC;ANNO=synonymous:DPYD:NM_000110:exon14:c.C1905T:p.N635N,;ANNO=nonsynonymous:DPYD:NM_000110:exon14:c.C1905G:p.N635K,;ANNO=splicing:DPYD;ANNO=splicing:DPYD
1	98039526	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DPYD:NM_000110:exon11:c.A1129G:p.M377V,;ANNO=splicing:DPYD
1	100152345	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PALMD:NM_017734:exon4:c.G365C:p.R122T,;ANNO=splicing:PALMD
1	100195206	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FRRS1:NM_001013660:exon8:c.G858A:p.R286R,;ANNO=splicing:FRRS1
1	100316589	.	A	G	100	PASS	AC=9224;STUDIES=18;MAC=9224;MAF=0.444;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:AGL
1	100329942	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AGL:NM_000645:exon3:c.G410A:p.G137D,AGL:NM_000028:exon5:c.G461A:p.G154D,AGL:NM_000642:exon5:c.G461A:p.G154D,AGL:NM_000643:exon5:c.G461A:p.G154D,AGL:NM_000644:exon5:c.G461A:p.G154D,AGL:NM_000646:exon5:c.G413A:p.G138D,;ANNO=splicing:AGL
1	100342152	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AGL:NM_000645:exon9:c.G1371A:p.P457P,AGL:NM_000028:exon11:c.G1422A:p.P474P,AGL:NM_000642:exon11:c.G1422A:p.P474P,AGL:NM_000643:exon11:c.G1422A:p.P474P,AGL:NM_000644:exon11:c.G1422A:p.P474P,AGL:NM_000646:exon11:c.G1374A:p.P458P,;ANNO=splicing:AGL
1	100346633	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AGL:NM_000645:exon13:c.A1850T:p.H617L,AGL:NM_000028:exon15:c.A1901T:p.H634L,AGL:NM_000642:exon15:c.A1901T:p.H634L,AGL:NM_000643:exon15:c.A1901T:p.H634L,AGL:NM_000644:exon15:c.A1901T:p.H634L,AGL:NM_000646:exon15:c.A1853T:p.H618L,;ANNO=splicing:AGL
1	100347247	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AGL:NM_000645:exon15:c.G2257C:p.G753R,AGL:NM_000028:exon17:c.G2308C:p.G770R,AGL:NM_000642:exon17:c.G2308C:p.G770R,AGL:NM_000643:exon17:c.G2308C:p.G770R,AGL:NM_000644:exon17:c.G2308C:p.G770R,AGL:NM_000646:exon17:c.G2260C:p.G754R,;ANNO=splicing:AGL
1	100356777	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AGL:NM_000645:exon20:c.T2763G:p.G921G,AGL:NM_000028:exon22:c.T2814G:p.G938G,AGL:NM_000642:exon22:c.T2814G:p.G938G,AGL:NM_000643:exon22:c.T2814G:p.G938G,AGL:NM_000644:exon22:c.T2814G:p.G938G,AGL:NM_000646:exon22:c.T2766G:p.G922G,;ANNO=splicing:AGL
1	100587105	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SASS6:NM_194292:exon5:c.G312C:p.R104S,;ANNO=splicing:SASS6
1	100602575	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CCDC76:NM_019083:exon3:c.C195T:p.H65H,;ANNO=splicing:CCDC76
1	100617941	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:LRRC39:NM_144620:exon9:c.G952A:p.D318N,;ANNO=splicing:LRRC39
1	100623922	.	T	C	100	PASS	AC=968;STUDIES=22;MAC=968;MAF=0.041;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LRRC39:NM_144620:exon6:c.A378G:p.G126G,;ANNO=splicing:LRRC39
1	100696470	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DBT:NM_001918:exon4:c.G252T:p.W84C,;ANNO=splicing:DBT
1	100856380	.	A	C	100	PASS	AC=960;STUDIES=13;MAC=960;MAF=0.063;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=synonymous:CDC14A:NM_033312:exon4:c.A309C:p.A103A,CDC14A:NM_033313:exon4:c.A309C:p.A103A,CDC14A:NM_003672:exon4:c.A309C:p.A103A,;ANNO=splicing:CDC14A
1	103379193	.	C	T	100	PASS	AC=23;STUDIES=13;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL11A1:NM_001854:exon53:c.G4032A:p.P1344P,COL11A1:NM_080630:exon51:c.G3684A:p.P1228P,COL11A1:NM_080629:exon53:c.G4068A:p.P1356P,COL11A1:NM_001190709:exon52:c.G3915A:p.P1305P,;ANNO=splicing:COL11A1
1	103491354	.	A	G	100	PASS	AC=19;STUDIES=5;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL11A1(NM_080629:c.933+2T>C)
1	104118163	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;TRIALLELIC;ANNO=splicing:AMY2B(NM_020978:c.1101+1G>A);ANNO=splicing:AMY2B(NM_020978:c.1101+1G>T)
1	108138962	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:VAV3:NM_006113:exon25:c.A2222G:p.E741G,VAV3:NM_001079874:exon8:c.A542G:p.E181G,;ANNO=splicing:VAV3
1	108313258	.	C	T	100	PASS	AC=10202;STUDIES=11;MAC=3642;MAF=0.263;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:VAV3:NM_006113:exon6:c.G648A:p.K216K,;ANNO=splicing:VAV3
1	108315357	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VAV3:NM_006113:exon5:c.C555T:p.P185P,;ANNO=splicing:VAV3
1	109365991	.	C	T	100	PASS	AC=137;STUDIES=10;MAC=137;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AKNAD1(NM_152763:c.2167+1G>A)
1	109377070	.	C	A	100	PASS	AC=2912;STUDIES=22;MAC=2912;MAF=0.120;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AKNAD1:NM_152763:exon9:c.G1745T:p.G582V,;ANNO=splicing:AKNAD1
1	109553539	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:WDR47:NM_014969:exon5:c.C1129T:p.R377X,WDR47:NM_001142550:exon5:c.C1150T:p.R384X,;ANNO=splicing:WDR47
1	109707121	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1324:NM_020775:exon3:c.C275G:p.S92C,;ANNO=splicing:KIAA1324
1	109707313	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1324:NM_020775:exon3:c.C467T:p.S156L,;ANNO=splicing:KIAA1324
1	109714635	.	C	T	100	PASS	AC=279;STUDIES=11;MAC=279;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIAA1324:NM_020775:exon4:c.C615T:p.F205F,;ANNO=splicing:KIAA1324
1	109734349	.	G	A	100	PASS	AC=33;STUDIES=8;MAC=33;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1324:NM_020775:exon13:c.G1547A:p.G516D,;ANNO=splicing:KIAA1324
1	109772194	.	G	A	100	PASS	AC=154;STUDIES=9;MAC=154;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SARS:NM_006513:exon4:c.G447A:p.E149E,;ANNO=splicing:SARS
1	109823537	.	G	A	100	PASS	AC=228;STUDIES=19;MAC=228;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PSRC1:NM_032636:exon6:c.C766T:p.P256S,PSRC1:NM_001005290:exon6:c.C665T:p.A222V,PSRC1:NM_001032291:exon6:c.C766T:p.P256S,;ANNO=splicing:PSRC1
1	109825198	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PSRC1(NM_032636:c.19-1G>C,NM_001032291:c.19-1G>C,NM_001005290:c.19-1G>C)
1	109825360	.	C	T	100	PASS	AC=4485;STUDIES=5;MAC=43;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PSRC1
1	109838857	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYBPHL:NM_001010985:exon6:c.G866A:p.R289Q,;ANNO=splicing:MYBPHL
1	109840043	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYBPHL(NM_001010985:c.430+1G>A)
1	109859580	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SORT1:NM_001205228:exon17:c.G1731A:p.G577G,SORT1:NM_002959:exon17:c.G2142A:p.G714G,;ANNO=splicing:SORT1
1	110029129	.	C	T	100	PASS	AC=15;STUDIES=4;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ATXN7L2:NM_153340:exon3:c.C195T:p.D65D,;ANNO=splicing:ATXN7L2
1	110200294	.	G	A	100	PASS	AC=45;STUDIES=11;MAC=45;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:GSTM4(NM_000850:c.259+1G>A,NM_147148:c.259+1G>A)
1	110200392	.	A	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:GSTM4(NM_000850:c.259-2A>T,NM_147148:c.259-2A>T)
1	110734834	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC6A17:NM_001010898:exon7:c.G1105A:p.E369K,;ANNO=splicing:SLC6A17
1	110996584	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PROK1:NM_032414:exon2:c.C74A:p.A25D,;ANNO=splicing:PROK1
1	110998854	.	G	A	100	PASS	AC=10211;STUDIES=22;MAC=10211;MAF=0.421;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PROK1:NM_032414:exon3:c.G199A:p.V67I,;ANNO=splicing:PROK1
1	111777529	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CHI3L2:NM_001025199:exon4:c.G93A:p.G31G,CHI3L2:NM_004000:exon5:c.G330A:p.G110G,CHI3L2:NM_001025197:exon4:c.G300A:p.G100G,;ANNO=splicing:CHI3L2
1	111781555	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CHI3L2(NM_001025197:c.888+1G>C,NM_004000:c.918+1G>C,NM_001025199:c.681+1G>C)
1	111783947	.	A	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:CHI3L2(NM_001025197:c.888-2A>C,NM_004000:c.918-2A>C,NM_001025199:c.681-2A>C)
1	111857219	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:CHIA(NM_201653:c.314+1G>A);ANNO=splicing:CHIA(NM_201653:c.314+1G>T)
1	111861114	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CHIA(NM_021797:c.405-1G>A,NM_201653:c.729-1G>A)
1	111861741	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CHIA(NM_021797:c.591-1G>C,NM_201653:c.915-1G>C)
1	111889294	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf88(NM_181643:c.19+1G>A)
1	113140594	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ST7L:NM_138728:exon5:c.A621G:p.T207T,ST7L:NM_138727:exon5:c.A570G:p.T190T,ST7L:NM_017744:exon5:c.A621G:p.T207T,ST7L:NM_138729:exon5:c.A621G:p.T207T,;ANNO=splicing:ST7L
1	113192091	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CAPZA1:NM_006135:exon3:c.A155G:p.H52R,;ANNO=splicing:CAPZA1
1	113237371	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MOV10:NM_020963:exon10:c.G1473A:p.K491K,MOV10:NM_001130079:exon10:c.G1473A:p.K491K,;ANNO=splicing:MOV10
1	113264856	.	A	G	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM19A3:NM_182759:exon2:c.A1G:p.M1V,FAM19A3:NM_001004440:exon2:c.A1G:p.M1V,;ANNO=splicing:FAM19A3
1	114246790	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PHTF1(NM_006608:c.1803-1G>A)
1	114362278	.	T	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PTPN22(NM_001193431:c.2197-2A>C,NM_015967:c.2281-2A>C,NM_012411:c.2116-2A>C)
1	114367763	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PTPN22(NM_001193431:c.2197+1G>A,NM_015967:c.2281+1G>A,NM_012411:c.2116+1G>A)
1	114367793	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTPN22:NM_012411:exon17:c.G2087A:p.S696N,PTPN22:NM_015967:exon19:c.G2252A:p.S751N,PTPN22:NM_001193431:exon19:c.G2168A:p.S723N,;ANNO=splicing:PTPN22
1	114372214	.	C	G	100	PASS	AC=152;STUDIES=17;MAC=152;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PTPN22:NM_012411:exon16:c.G2085C:p.K695N,PTPN22:NM_015967:exon18:c.G2250C:p.K750N,PTPN22:NM_001193431:exon18:c.G2166C:p.K722N,;ANNO=splicing:PTPN22
1	114447565	.	G	A	100	PASS	AC=407;STUDIES=3;MAC=407;MAF=0.199;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:AP4B1
1	114970516	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRIM33:NM_015906:exon7:c.A1156C:p.N386H,TRIM33:NM_033020:exon7:c.A1156C:p.N386H,;ANNO=splicing:TRIM33
1	115142823	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DENND2C(NM_198459:c.1934+2T>C)
1	115166128	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DENND2C:NM_198459:exon3:c.T943C:p.Y315H,;ANNO=splicing:DENND2C
1	115216529	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AMPD1(NM_001172626:c.2061+1G>A,NM_000036:c.2073+1G>A)
1	115229365	.	C	G	100	PASS	AC=15;STUDIES=3;MAC=15;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AMPD1(NM_001172626:c.468+1G>C,NM_000036:c.480+1G>C)
1	115236056	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:AMPD1(NM_000036:c.133+1G>A)
1	115236057	.	G	A	100	PASS	AC=2193;STUDIES=19;MAC=2193;MAF=0.103;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:AMPD1:NM_000036:exon2:c.C133T:p.Q45X,;ANNO=splicing:AMPD1
1	115489865	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SYCP1(NM_003176:c.2247-2A>G)
1	115537503	.	G	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SYCP1:NM_003176:exon32:c.G2794T:p.A932S,;ANNO=splicing:SYCP1
1	115601504	.	T	C	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TSPAN2:NM_005725:exon5:c.A444G:p.T148T,;ANNO=splicing:TSPAN2
1	116202263	.	G	A	100	PASS	AC=18;STUDIES=6;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VANGL1:NM_001172411:exon3:c.G73A:p.E25K,VANGL1:NM_138959:exon3:c.G73A:p.E25K,VANGL1:NM_001172412:exon3:c.G73A:p.E25K,;ANNO=splicing:VANGL1
1	116383333	.	C	A	100	PASS	AC=326;STUDIES=2;MAC=326;MAF=0.232;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:NHLH2
1	116670087	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAB21L3:NM_152367:exon5:c.G482A:p.G161D,;ANNO=splicing:MAB21L3
1	117509534	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PTGFRN:NM_020440:exon6:c.T1641C:p.D547D,;ANNO=splicing:PTGFRN
1	117560779	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CD101:NM_004258:exon6:c.G1614A:p.E538E,;ANNO=splicing:CD101
1	117637990	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTF2(NM_003594:c.3035+1G>A)
1	118441837	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GDAP2:NM_017686:exon7:c.G638A:p.G213D,GDAP2:NM_001135589:exon7:c.G638A:p.G213D,;ANNO=splicing:GDAP2
1	118449203	.	G	C	100	PASS	AC=312;STUDIES=12;MAC=312;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GDAP2:NM_017686:exon6:c.C561G:p.R187R,GDAP2:NM_001135589:exon6:c.C561G:p.R187R,;ANNO=splicing:GDAP2
1	118483748	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:WDR3:NM_006784:exon8:c.G791A:p.R264Q,;ANNO=splicing:WDR3
1	118492375	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:WDR3:NM_006784:exon14:c.G1526A:p.R509H,;ANNO=splicing:WDR3
1	118499820	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR3(NM_006784:c.2582+1G>A)
1	118530457	.	C	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:SPAG17:NM_206996:exon40:c.G5669C:p.R1890T,;ANNO=nonsynonymous:SPAG17:NM_206996:exon40:c.G5669A:p.R1890K,;ANNO=splicing:SPAG17;ANNO=splicing:SPAG17
1	118550820	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SPAG17:NM_206996:exon31:c.C4434T:p.T1478T,;ANNO=splicing:SPAG17
1	118581916	.	C	T	100	PASS	AC=22;STUDIES=10;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SPAG17:NM_206996:exon23:c.G3318A:p.T1106T,;ANNO=splicing:SPAG17
1	119467440	.	T	C	100	PASS	AC=91;STUDIES=16;MAC=91;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TBX15:NM_152380:exon4:c.A204G:p.R68R,;ANNO=splicing:TBX15
1	120284519	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PHGDH:NM_006623:exon10:c.A1208G:p.N403S,;ANNO=splicing:PHGDH
1	120295173	.	C	T	100	PASS	AC=48;STUDIES=13;MAC=48;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HMGCS2:NM_001166107:exon7:c.G1293A:p.K431K,HMGCS2:NM_005518:exon8:c.G1419A:p.K473K,;ANNO=splicing:HMGCS2
1	120386922	.	A	T	100	PASS	AC=384;STUDIES=9;MAC=384;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:NBPF7(NM_001047980:c.235+2T>A)
1	120930039	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:FCGR1B:NM_001004340:exon2:c.G286T:p.G96C,FCGR1B:NM_001017986:exon4:c.G562T:p.G188C,;ANNO=splicing:FCGR1B
1	144617251	.	A	G	100	PASS	AC=919;STUDIES=4;MAC=919;MAF=0.298;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:NBPF9:NM_001037675:exon3:c.A275G:p.Q92R,;ANNO=splicing:NBPF9
1	144619346	.	G	A	100	PASS	AC=558;STUDIES=2;MAC=196;MAF=0.260;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:NBPF9(NM_001037675:c.491-1G>A)
1	144856817	.	T	C	100	PASS	AC=124;STUDIES=2;MAC=124;MAF=0.075;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:PDE4DIP:NM_001198832:exon42:c.A6350G:p.E2117G,PDE4DIP:NM_014644:exon40:c.A6668G:p.E2223G,PDE4DIP:NM_001198834:exon40:c.A6668G:p.E2223G,;ANNO=splicing:PDE4DIP
1	144917636	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PDE4DIP:NM_001198832:exon15:c.C1666T:p.R556W,PDE4DIP:NM_014644:exon12:c.C1468T:p.R490W,PDE4DIP:NM_001002812:exon12:c.C1468T:p.R490W,PDE4DIP:NM_001198834:exon12:c.C1468T:p.R490W,PDE4DIP:NM_001002811:exon8:c.C1957T:p.R653W,;ANNO=splicing:PDE4DIP
1	144922638	.	T	A	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PDE4DIP:NM_001198832:exon10:c.A967T:p.I323F,PDE4DIP:NM_014644:exon7:c.A769T:p.I257F,PDE4DIP:NM_001002812:exon7:c.A769T:p.I257F,PDE4DIP:NM_001198834:exon7:c.A769T:p.I257F,PDE4DIP:NM_001002811:exon3:c.A1258T:p.I420F,;ANNO=splicing:PDE4DIP
1	145538980	.	G	A	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITGA10:NM_003637:exon25:c.G2920A:p.V974I,;ANNO=splicing:ITGA10
1	145555823	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANKRD35(NM_144698:c.170+1G>A)
1	145556691	.	T	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANKRD35(NM_144698:c.259+2T>A)
1	145558265	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ANKRD35:NM_144698:exon5:c.G382T:p.A128S,;ANNO=splicing:ANKRD35
1	145558835	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ANKRD35:NM_144698:exon7:c.G454A:p.D152N,;ANNO=splicing:ANKRD35
1	145579331	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PIAS3:NM_006099:exon5:c.C668T:p.P223L,;ANNO=splicing:PIAS3
1	145588378	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NUDT17:NM_001012758:exon4:c.G495A:p.E165E,;ANNO=splicing:NUDT17
1	145596903	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:POLR3C(NM_006468:c.1221+1G>T)
1	146680614	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FMO5(NM_001144829:c.630-1G>T,NM_001461:c.630-1G>T,NM_001144830:c.630-1G>T)
1	146740442	.	T	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CHD1L:NM_004284:exon10:c.T990A:p.G330G,;ANNO=splicing:CHD1L
1	146747766	.	A	G	100	PASS	AC=23;STUDIES=7;MAC=23;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CHD1L(NM_004284:c.1385-2A>G)
1	146759412	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CHD1L:NM_004284:exon19:c.G2320A:p.D774N,;ANNO=splicing:CHD1L
1	147084683	.	A	G	100	PASS	AC=20;STUDIES=10;MAC=20;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BCL9:NM_004326:exon5:c.A55G:p.S19G,;ANNO=splicing:BCL9
1	148009517	.	C	A	100	PASS	AC=296;STUDIES=12;MAC=296;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:NBPF14(NM_015383:c.1790-1G>T)
1	149878407	.	G	A	100	PASS	AC=398;STUDIES=19;MAC=398;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SV2A:NM_014849:exon11:c.C1680T:p.D560D,;ANNO=splicing:SV2A
1	149901209	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MTMR11:NM_181873:exon16:c.A1726G:p.M576V,MTMR11:NM_001145862:exon17:c.A1942G:p.M648V,;ANNO=splicing:MTMR11
1	149901809	.	C	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MTMR11(NM_181873:c.1431-1G>T,NM_001145862:c.1647-1G>T)
1	150201406	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ANP32E:NM_030920:exon4:c.G492A:p.E164E,ANP32E:NM_001136479:exon4:c.G348A:p.E116E,ANP32E:NM_001136478:exon3:c.G369A:p.E123E,;ANNO=splicing:ANP32E
1	150230578	.	G	T	100	PASS	AC=16;STUDIES=8;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CA14:NM_012113:exon1:c.G55T:p.G19C,;ANNO=splicing:CA14
1	150238593	.	G	C	100	PASS	AC=55;STUDIES=9;MAC=55;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:APH1A:NM_001077628:exon7:c.C735G:p.C245W,;ANNO=splicing:APH1A
1	150246573	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C1orf54:NM_024579:exon2:c.G130A:p.D44N,;ANNO=splicing:C1orf54
1	150312875	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:PRPF3:NM_004698:exon9:c.A1204G:p.T402A,;ANNO=splicing:PRPF3
1	150459992	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TARS2:NM_025150:exon1:c.G66A:p.T22T,;ANNO=splicing:TARS2
1	150464964	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TARS2:NM_025150:exon7:c.C773T:p.S258L,;ANNO=splicing:TARS2
1	150679030	.	C	T	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:HORMAD1:NM_001199829:exon9:c.G782A:p.S261N,HORMAD1:NM_032132:exon10:c.G803A:p.S268N,;ANNO=splicing:HORMAD1
1	150684047	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HORMAD1:NM_001199829:exon6:c.G280A:p.V94I,HORMAD1:NM_032132:exon7:c.G301A:p.V101I,;ANNO=splicing:HORMAD1
1	150916469	.	C	T	100	PASS	AC=26;STUDIES=6;MAC=26;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SETDB1:NM_001145415:exon8:c.C949T:p.L317L,SETDB1:NM_012432:exon8:c.C949T:p.L317L,;ANNO=splicing:SETDB1
1	150935614	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SETDB1:NM_001145415:exon19:c.T3456C:p.T1152T,SETDB1:NM_012432:exon19:c.T3456C:p.T1152T,;ANNO=splicing:SETDB1
1	150936217	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SETDB1:NM_001145415:exon20:c.C3669T:p.N1223N,SETDB1:NM_012432:exon20:c.C3669T:p.N1223N,;ANNO=splicing:SETDB1
1	150940296	.	A	G	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CERS2:NM_181746:exon5:c.A468C:p.G156G,CERS2:NM_022075:exon5:c.A468C:p.G156G,;ANNO=splicing:CERS2
1	150957061	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANXA9(NM_003568:c.381-1G>A)
1	150959078	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ANXA9:NM_003568:exon9:c.G553C:p.G185R,;ANNO=splicing:ANXA9
1	150960817	.	G	C	100	PASS	AC=18;STUDIES=4;MAC=18;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ANXA9:NM_003568:exon12:c.G852C:p.Q284H,;ANNO=splicing:ANXA9
1	150974202	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FAM63A:NM_018379:exon4:c.T510C:p.L170L,FAM63A:NM_001040217:exon3:c.T84C:p.L28L,FAM63A:NM_001163259:exon3:c.T225C:p.L75L,FAM63A:NM_001163260:exon3:c.T84C:p.L28L,FAM63A:NM_001163258:exon4:c.T654C:p.L218L,;ANNO=splicing:FAM63A
1	151001419	.	C	T	100	PASS	AC=9;STUDIES=8;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PRUNE:NM_021222:exon7:c.C932T:p.T311M,;ANNO=splicing:PRUNE
1	151019128	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BNIPL:NM_001159642:exon10:c.C793T:p.L265L,BNIPL:NM_138278:exon10:c.C1039T:p.L347L,;ANNO=splicing:BNIPL
1	151028154	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CDC42SE1:NM_001038707:exon3:c.C53T:p.P18L,CDC42SE1:NM_020239:exon2:c.C53T:p.P18L,;ANNO=splicing:CDC42SE1
1	151111901	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SEMA6C:NM_001178061:exon6:c.G354A:p.T118T,SEMA6C:NM_030913:exon6:c.G354A:p.T118T,SEMA6C:NM_001178062:exon6:c.G354A:p.T118T,;ANNO=splicing:SEMA6C
1	151139597	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SCNM1:NM_024041:exon4:c.G212C:p.S71T,TNFAIP8L2-SCNM1:NM_001204848:exon4:c.G107C:p.S36T,SCNM1:NM_001204856:exon4:c.G107C:p.S36T,;ANNO=splicing:SCNM1,TNFAIP8L2-SCNM1
1	151142995	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMOD4:NM_013353:exon9:c.C1015T:p.R339C,;ANNO=splicing:TMOD4
1	151143138	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TMOD4:NM_013353:exon9:c.G872A:p.R291H,;ANNO=splicing:TMOD4
1	151144240	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMOD4(NM_013353:c.487-1G>C)
1	151493071	.	G	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:CGN(NM_020770:c.1044-1G>C);ANNO=splicing:CGN(NM_020770:c.1044-1G>T)
1	151499584	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CGN(NM_020770:c.1896+1G>T)
1	151502966	.	C	G	100	PASS	AC=323;STUDIES=19;MAC=323;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CGN:NM_020770:exon13:c.C2315G:p.A772G,;ANNO=splicing:CGN
1	151509682	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CGN:NM_020770:exon21:c.C3472T:p.R1158C,;ANNO=splicing:CGN
1	151535062	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TUFT1:NM_020127:exon3:c.C137T:p.A46V,TUFT1:NM_001126337:exon2:c.C62T:p.A21V,;ANNO=splicing:TUFT1
1	151546873	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:TUFT1:NM_020127:exon8:c.C722A:p.T241K,TUFT1:NM_001126337:exon7:c.C647A:p.T216K,;ANNO=nonsynonymous:TUFT1:NM_020127:exon8:c.C722T:p.T241M,TUFT1:NM_001126337:exon7:c.C647T:p.T216M,;ANNO=splicing:TUFT1;ANNO=splicing:TUFT1
1	151638486	.	T	C	100	PASS	AC=63;STUDIES=7;MAC=63;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SNX27:NM_030918:exon6:c.T984C:p.F328F,;ANNO=splicing:SNX27
1	151681552	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CELF3:NM_007185:exon5:c.C408T:p.G136G,CELF3:NM_001172648:exon5:c.C267T:p.G89G,CELF3:NM_001172649:exon5:c.C408T:p.G136G,;ANNO=splicing:CELF3
1	151732657	.	C	G	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MRPL9:NM_031420:exon7:c.G673C:p.V225L,;ANNO=splicing:MRPL9
1	151733293	.	G	A	100	PASS	AC=17;STUDIES=10;MAC=17;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MRPL9:NM_031420:exon6:c.C671T:p.T224M,;ANNO=splicing:MRPL9
1	151748021	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TDRKH(NM_006862:c.1282-2A>T,NM_001083965:c.1282-2A>T,NM_001083964:c.1147-2A>T,NM_001083963:c.1282-2A>T)
1	151785424	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RORC:NM_001001523:exon8:c.C1221A:p.A407A,RORC:NM_005060:exon9:c.C1284A:p.A428A,;ANNO=splicing:RORC
1	151825920	.	A	G	100	PASS	AC=193;STUDIES=8;MAC=193;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:THEM5:NM_182578:exon1:c.T122C:p.M41T,;ANNO=splicing:THEM5
1	152009387	.	A	G	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:S100A11(NM_005620:c.3+2T>C)
1	152086420	.	C	T	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TCHH:NM_007113:exon1:c.G137A:p.R46Q,;ANNO=splicing:TCHH
1	153276333	.	C	G	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PGLYRP3:NM_052891:exon4:c.G529C:p.V177L,;ANNO=splicing:PGLYRP3
1	153277423	.	C	T	100	PASS	AC=9325;STUDIES=21;MAC=9325;MAF=0.394;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:PGLYRP3:NM_052891:exon3:c.G376A:p.G126S,;ANNO=splicing:PGLYRP3
1	153390542	.	G	C	100	PASS	AC=517;STUDIES=7;MAC=517;MAF=0.087;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=splicing:S100A7A
1	153410822	.	C	A	100	PASS	AC=9136;STUDIES=14;MAC=3758;MAF=0.291;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:S100A7L2:NM_001045479:exon2:c.G17T:p.G6V,;ANNO=splicing:S100A7L2
1	153431505	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:S100A7
1	153507679	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:S100A6:NM_014624:exon2:c.C137T:p.S46L,;ANNO=splicing:S100A6
1	153514241	.	A	C	100	PASS	AC=107;STUDIES=2;MAC=107;MAF=0.055;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:S100A5
1	153517129	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:S100A4(NM_019554:c.141+1G>A,NM_002961:c.141+1G>A)
1	153580653	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:S100A16
1	153587711	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:S100A14:NM_020672:exon3:c.G177A:p.P59P,;ANNO=splicing:S100A14
1	153656216	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NPR1:NM_000906:exon7:c.A1400G:p.D467G,;ANNO=splicing:NPR1
1	153749538	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC27A3:NM_024330:exon3:c.G1019T:p.G340V,;ANNO=splicing:SLC27A3
1	153750360	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC27A3:NM_024330:exon4:c.C1301T:p.P434L,;ANNO=splicing:SLC27A3
1	153750361	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC27A3:NM_024330:exon4:c.G1302A:p.P434P,;ANNO=splicing:SLC27A3
1	153915605	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DENND4B:NM_014856:exon3:c.G319A:p.V107M,;ANNO=splicing:DENND4B
1	153940996	.	A	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CREB3L4
1	153945312	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CREB3L4:NM_130898:exon5:c.G636C:p.K212N,;ANNO=splicing:CREB3L4
1	153963239	.	C	T	100	PASS	AC=82;STUDIES=9;MAC=82;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:RPS27
1	153964542	.	A	T	100	PASS	AC=91;STUDIES=14;MAC=91;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:RPS27:NM_001030:exon4:c.A228T:p.G76G,;ANNO=splicing:RPS27
1	154144579	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TPM3:NM_153649:exon5:c.C457T:p.R153C,TPM3:NM_001043352:exon5:c.C457T:p.R153C,;ANNO=splicing:TPM3
1	154178115	.	C	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf189(NM_001010979:c.33-1G>C)
1	154209611	.	G	A	100	PASS	AC=16;STUDIES=3;MAC=16;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UBAP2L:NM_014847:exon8:c.G702A:p.T234T,UBAP2L:NM_001127320:exon8:c.G702A:p.T234T,;ANNO=splicing:UBAP2L
1	154295594	.	T	C	100	PASS	AC=282;STUDIES=7;MAC=282;MAF=0.036;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:AQP10:NM_080429:exon3:c.T369C:p.H123H,;ANNO=splicing:AQP10
1	154302929	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATP8B2:NM_001005855:exon3:c.C89T:p.A30V,ATP8B2:NM_020452:exon3:c.C188T:p.A63V,;ANNO=splicing:ATP8B2
1	154473913	.	G	A	100	PASS	AC=18;STUDIES=9;MAC=18;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SHE:NM_001010846:exon1:c.C590T:p.T197M,;ANNO=splicing:SHE
1	154514541	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TDRD10:NM_182499:exon7:c.C411T:p.A137A,TDRD10:NM_001098475:exon7:c.C411T:p.A137A,;ANNO=splicing:TDRD10
1	154560602	.	G	A	100	PASS	AC=16;STUDIES=8;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ADAR:NM_015841:exon11:c.C2883T:p.N961N,ADAR:NM_015840:exon11:c.C2940T:p.N980N,ADAR:NM_001193495:exon11:c.C2133T:p.N711N,ADAR:NM_001025107:exon11:c.C2133T:p.N711N,ADAR:NM_001111:exon11:c.C3018T:p.N1006N,;ANNO=splicing:ADAR
1	154705480	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KCNN3:NM_170782:exon4:c.T674C:p.M225T,KCNN3:NM_002249:exon4:c.T1589C:p.M530T,KCNN3:NM_001204087:exon5:c.T1634C:p.M545T,;ANNO=splicing:KCNN3
1	154962037	.	G	A	100	PASS	AC=18;STUDIES=7;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FLAD1:NM_025207:exon3:c.G1119A:p.G373G,FLAD1:NM_001184891:exon4:c.G828A:p.G276G,FLAD1:NM_201398:exon4:c.G828A:p.G276G,;ANNO=splicing:FLAD1
1	155004049	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DCST2(NM_144622:c.739+1G>A)
1	155015333	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DCST1(NM_152494:c.1014+1G>A,NM_001143687:c.939+1G>A)
1	155015986	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DCST1(NM_152494:c.1172+1G>A,NM_001143687:c.1097+1G>A)
1	155018836	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DCST1:NM_001143687:exon12:c.G1294A:p.V432M,DCST1:NM_152494:exon13:c.G1369A:p.V457M,;ANNO=splicing:DCST1
1	155020645	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DCST1:NM_001143687:exon15:c.C1793T:p.P598L,DCST1:NM_152494:exon16:c.C1868T:p.P623L,;ANNO=splicing:DCST1
1	155025894	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADAM15:NM_207195:exon3:c.C188G:p.T63S,ADAM15:NM_207197:exon3:c.C188G:p.T63S,ADAM15:NM_003815:exon3:c.C188G:p.T63S,ADAM15:NM_207194:exon3:c.C188G:p.T63S,ADAM15:NM_207196:exon3:c.C188G:p.T63S,ADAM15:NM_207191:exon3:c.C188G:p.T63S,;ANNO=splicing:ADAM15
1	155032818	.	A	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADAM15:NM_207191:exon18:c.A2206C:p.S736R,;ANNO=splicing:ADAM15
1	155033308	.	G	A	100	PASS	AC=3178;STUDIES=22;MAC=3178;MAF=0.133;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ADAM15:NM_207195:exon19:c.G2277A:p.K759K,ADAM15:NM_207197:exon19:c.G2277A:p.K759K,ADAM15:NM_003815:exon19:c.G2277A:p.K759K,ADAM15:NM_207194:exon19:c.G2277A:p.K759K,ADAM15:NM_207196:exon19:c.G2277A:p.K759K,;ANNO=splicing:ADAM15
1	155039849	.	G	A	100	PASS	AC=24;STUDIES=11;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EFNA4:NM_182690:exon3:c.G402A:p.S134S,EFNA4:NM_182689:exon3:c.G402A:p.S134S,EFNA4:NM_005227:exon3:c.G402A:p.S134S,;ANNO=splicing:EFNA4
1	155041330	.	G	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EFNA4:NM_005227:exon4:c.G471T:p.K157N,;ANNO=splicing:EFNA4
1	155058887	.	A	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EFNA3(NM_004952:c.586-2A>C)
1	155162102	.	C	T	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MUC1(NM_001204292:c.58-1G>A,NM_001204291:c.58-1G>A,NM_001204289:c.58-1G>A,NM_001204288:c.58-1G>A,NM_001204287:c.58-1G>A,NM_001204286:c.58-1G>A,NM_001204297:c.58-1G>A,NM_001204296:c.58-1G>A,NM_001204295:c.58-1G>A,NM_001044392:c.58-1G>A,NM_001018016:c.58-1G>A)
1	155167834	.	T	G	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:THBS3:NM_007112:exon18:c.A2252C:p.Q751P,;ANNO=splicing:THBS3
1	155204987	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:GBA:NM_000157:exon10:c.C1504T:p.R502C,GBA:NM_001171812:exon9:c.C1357T:p.R453C,GBA:NM_001005741:exon11:c.C1504T:p.R502C,GBA:NM_001171811:exon9:c.C1243T:p.R415C,GBA:NM_001005742:exon11:c.C1504T:p.R502C,;ANNO=splicing:GBA
1	155205634	.	T	C	100	PASS	AC=46;STUDIES=14;MAC=46;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:GBA:NM_000157:exon9:c.A1226G:p.N409S,GBA:NM_001171812:exon8:c.A1079G:p.N360S,GBA:NM_001005741:exon10:c.A1226G:p.N409S,GBA:NM_001171811:exon8:c.A965G:p.N322S,GBA:NM_001005742:exon10:c.A1226G:p.N409S,;ANNO=splicing:GBA
1	155206036	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:GBA:NM_000157:exon8:c.G1224A:p.T408T,GBA:NM_001171812:exon7:c.G1077A:p.T359T,GBA:NM_001005741:exon9:c.G1224A:p.T408T,GBA:NM_001171811:exon7:c.G963A:p.T321T,GBA:NM_001005742:exon9:c.G1224A:p.T408T,;ANNO=splicing:GBA
1	155206037	.	G	A	100	PASS	AC=133;STUDIES=18;MAC=133;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:GBA:NM_000157:exon8:c.C1223T:p.T408M,GBA:NM_001171812:exon7:c.C1076T:p.T359M,GBA:NM_001005741:exon9:c.C1223T:p.T408M,GBA:NM_001171811:exon7:c.C962T:p.T321M,GBA:NM_001005742:exon9:c.C1223T:p.T408M,;ANNO=splicing:GBA
1	155218094	.	C	A	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM189B:NM_198264:exon8:c.G1292T:p.G431V,FAM189B:NM_006589:exon11:c.G1580T:p.G527V,;ANNO=splicing:FAM189B
1	155220614	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM189B(NM_198264:c.676-2A>G,NM_006589:c.964-2A>G)
1	155262969	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PKLR:NM_000298:exon9:c.C1435T:p.R479C,PKLR:NM_181871:exon9:c.C1342T:p.R448C,;ANNO=splicing:PKLR
1	155265228	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PKLR:NM_000298:exon4:c.G507A:p.G169G,PKLR:NM_181871:exon4:c.G414A:p.G138G,;ANNO=splicing:PKLR
1	155650207	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:YY1AP1:NM_001198906:exon3:c.T219G:p.T73T,YY1AP1:NM_001198901:exon2:c.T21G:p.T7T,YY1AP1:NM_139118:exon3:c.T219G:p.T73T,YY1AP1:NM_001198905:exon3:c.T21G:p.T7T,YY1AP1:NM_139119:exon3:c.T21G:p.T7T,YY1AP1:NM_001198904:exon2:c.T435G:p.T145T,YY1AP1:NM_001198903:exon2:c.T435G:p.T145T,YY1AP1:NM_001198902:exon2:c.T21G:p.T7T,;ANNO=splicing:YY1AP1
1	155699158	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DAP3(NM_001199849:c.843+1G>A,NM_001199850:c.741+1G>A,NM_001199851:c.720+1G>A,NM_004632:c.843+1G>A,NM_033657:c.843+1G>A)
1	155899631	.	G	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA0907:NM_014949:exon3:c.C256G:p.L86V,;ANNO=splicing:KIAA0907
1	155927672	.	T	C	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.069;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ARHGEF2:NM_001162383:exon13:c.A1547G:p.D516G,ARHGEF2:NM_004723:exon13:c.A1463G:p.D488G,ARHGEF2:NM_001162384:exon13:c.A1544G:p.D515G,;ANNO=splicing:ARHGEF2
1	156100408	.	C	T	100	PASS	AC=82;STUDIES=16;MAC=82;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LMNA:NM_170708:exon2:c.C357T:p.R119R,LMNA:NM_005572:exon2:c.C357T:p.R119R,LMNA:NM_170707:exon2:c.C357T:p.R119R,;ANNO=splicing:LMNA
1	156106818	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LMNA:NM_170708:exon8:c.C1487T:p.T496M,LMNA:NM_005572:exon8:c.C1487T:p.T496M,LMNA:NM_170707:exon8:c.C1487T:p.T496M,;ANNO=splicing:LMNA
1	156107534	.	C	T	100	PASS	AC=3415;STUDIES=17;MAC=3415;MAF=0.212;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=4;ANNO=synonymous:LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,;ANNO=splicing:LMNA
1	156127862	.	T	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SEMA4A:NM_022367:exon4:c.T302C:p.I101T,SEMA4A:NM_001193300:exon4:c.T302C:p.I101T,SEMA4A:NM_001193302:exon3:c.T5C:p.I2T,SEMA4A:NM_001193301:exon4:c.T302C:p.I101T,;ANNO=splicing:SEMA4A
1	156214553	.	G	A	100	PASS	AC=197;STUDIES=8;MAC=197;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PAQR6:NM_024897:exon6:c.C441T:p.I147I,PAQR6:NM_198406:exon7:c.C759T:p.I253I,;ANNO=splicing:PAQR6
1	156252399	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SMG5:NM_015327:exon1:c.C73T:p.R25W,;ANNO=splicing:SMG5
1	156351733	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RHBG:NM_020407:exon6:c.C977T:p.T326M,;ANNO=splicing:RHBG
1	156506972	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IQGAP3(NM_178229:c.3422+1G>A)
1	156513841	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IQGAP3:NM_178229:exon22:c.T2462G:p.V821G,;ANNO=splicing:IQGAP3
1	156521765	.	C	T	100	PASS	AC=28;STUDIES=11;MAC=28;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IQGAP3(NM_178229:c.1570+1G>A)
1	156524028	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IQGAP3:NM_178229:exon13:c.C1447T:p.R483C,;ANNO=splicing:IQGAP3
1	156532380	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IQGAP3:NM_178229:exon9:c.C876T:p.N292N,;ANNO=splicing:IQGAP3
1	156535820	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IQGAP3:NM_178229:exon4:c.C359T:p.S120L,;ANNO=splicing:IQGAP3
1	156552226	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TTC24:NM_001105669:exon3:c.G910A:p.G304S,;ANNO=splicing:TTC24
1	156571202	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GPATCH4:NM_015590:exon1:c.C30T:p.D10D,;ANNO=splicing:GPATCH4
1	156594258	.	G	A	100	PASS	AC=20;STUDIES=5;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HAPLN2:NM_021817:exon5:c.G555A:p.Q185Q,;ANNO=splicing:HAPLN2
1	156670334	.	C	G	100	PASS	AC=11;STUDIES=8;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CRABP2:NM_001199723:exon4:c.G366C:p.L122L,CRABP2:NM_001878:exon3:c.G366C:p.L122L,;ANNO=splicing:CRABP2
1	156708315	.	G	A	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MRPL24:NM_145729:exon2:c.C182T:p.T61M,MRPL24:NM_024540:exon2:c.C182T:p.T61M,;ANNO=splicing:MRPL24
1	156752120	.	A	C	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PRCC:NM_005973:exon2:c.A515C:p.Q172P,;ANNO=splicing:PRCC
1	156776968	.	G	A	100	PASS	AC=34;STUDIES=3;MAC=34;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:SH2D2A
1	156814868	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:INSRR:NM_014215:exon12:c.A2437C:p.R813R,;ANNO=splicing:INSRR
1	156815411	.	A	G	100	PASS	AC=12;STUDIES=9;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:INSRR:NM_014215:exon10:c.T2174C:p.I725T,;ANNO=splicing:INSRR
1	156838297	.	G	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NTRK1:NM_001012331:exon6:c.G575C:p.G192A,NTRK1:NM_002529:exon6:c.G575C:p.G192A,NTRK1:NM_001007792:exon7:c.G485C:p.G162A,;ANNO=splicing:NTRK1
1	156844800	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NTRK1:NM_001012331:exon10:c.C1336T:p.R446C,NTRK1:NM_002529:exon11:c.C1354T:p.R452C,NTRK1:NM_001007792:exon11:c.C1246T:p.R416C,;ANNO=splicing:NTRK1
1	156849792	.	T	G	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:NTRK1:NM_001012331:exon15:c.T2030G:p.V677G,NTRK1:NM_002529:exon16:c.T2048G:p.V683G,NTRK1:NM_001007792:exon16:c.T1940G:p.V647G,;ANNO=splicing:NTRK1
1	156875216	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PEAR1:NM_001080471:exon4:c.C307T:p.P103S,;ANNO=splicing:PEAR1
1	156875217	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PEAR1(NM_001080471:c.307+1G>A)
1	156883891	.	T	C	100	PASS	AC=102;STUDIES=6;MAC=102;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PEAR1:NM_001080471:exon22:c.T2961C:p.H987H,;ANNO=splicing:PEAR1
1	156900320	.	G	C	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LRRC71(NM_144702:c.1240-1G>C)
1	156916729	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ARHGEF11:NM_198236:exon27:c.G2567A:p.R856Q,ARHGEF11:NM_014784:exon26:c.G2447A:p.R816Q,;ANNO=splicing:ARHGEF11
1	156926356	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ARHGEF11:NM_198236:exon19:c.C1527T:p.S509S,ARHGEF11:NM_014784:exon18:c.C1407T:p.S469S,;ANNO=splicing:ARHGEF11
1	156927607	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGEF11:NM_198236:exon18:c.G1503A:p.L501L,ARHGEF11:NM_014784:exon17:c.G1383A:p.L461L,;ANNO=splicing:ARHGEF11
1	156937916	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARHGEF11:NM_198236:exon11:c.T826A:p.S276T,ARHGEF11:NM_014784:exon10:c.T706A:p.S236T,;ANNO=splicing:ARHGEF11
1	156954132	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ARHGEF11:NM_198236:exon3:c.T222C:p.P74P,ARHGEF11:NM_014784:exon3:c.T222C:p.P74P,;ANNO=splicing:ARHGEF11
1	157067659	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ETV3L(NM_001004341:c.607+1G>A)
1	157067660	.	G	A	100	PASS	AC=15;STUDIES=3;MAC=15;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:ETV3L:NM_001004341:exon4:c.C607T:p.R203X,;ANNO=splicing:ETV3L
1	157489532	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:FCRL5(NM_001195388:c.2660+1G>A,NM_031281:c.2660+1G>A)
1	157504404	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:FCRL5:NM_031281:exon8:c.G1681A:p.V561I,FCRL5:NM_001195388:exon8:c.G1681A:p.V561I,;ANNO=splicing:FCRL5
1	157551321	.	C	G	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FCRL4:NM_031282:exon7:c.G1249C:p.G417R,;ANNO=splicing:FCRL4
1	157559247	.	T	C	100	PASS	AC=71;STUDIES=8;MAC=71;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FCRL4:NM_031282:exon3:c.A54G:p.A18A,;ANNO=splicing:FCRL4
1	157653034	.	C	T	100	PASS	AC=19;STUDIES=9;MAC=19;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FCRL3:NM_052939:exon11:c.G1811A:p.G604E,;ANNO=splicing:FCRL3
1	157653036	.	T	C	100	PASS	AC=21;STUDIES=3;MAC=21;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FCRL3(NM_052939:c.1810-2A>G)
1	157665830	.	T	C	100	PASS	AC=161;STUDIES=17;MAC=161;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FCRL3:NM_052939:exon7:c.A1132G:p.I378V,;ANNO=splicing:FCRL3
1	157667213	.	C	T	100	PASS	AC=29;STUDIES=8;MAC=29;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FCRL3:NM_052939:exon6:c.G561A:p.E187E,;ANNO=splicing:FCRL3
1	157668419	.	C	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FCRL3:NM_052939:exon4:c.G53T:p.G18V,;ANNO=splicing:FCRL3
1	157670250	.	C	G	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FCRL3:NM_052939:exon2:c.G30C:p.L10L,;ANNO=splicing:FCRL3
1	157736760	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FCRL2:NM_030764:exon7:c.A1164T:p.G388G,;ANNO=splicing:FCRL2
1	157745566	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FCRL2:NM_030764:exon2:c.A51G:p.A17A,;ANNO=splicing:FCRL2
1	157769874	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FCRL1:NM_001159398:exon7:c.A1005C:p.G335G,FCRL1:NM_001159397:exon6:c.A888C:p.G296G,FCRL1:NM_052938:exon7:c.A1005C:p.G335G,;ANNO=splicing:FCRL1
1	158059417	.	C	T	100	PASS	AC=206;STUDIES=15;MAC=206;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIRREL:NM_018240:exon9:c.C1170T:p.N390N,;ANNO=splicing:KIRREL
1	158063551	.	C	T	100	PASS	AC=36;STUDIES=13;MAC=36;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIRREL:NM_018240:exon13:c.C1718T:p.S573L,;ANNO=splicing:KIRREL
1	158151246	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CD1D:NM_001766:exon3:c.C63G:p.V21V,;ANNO=splicing:CD1D
1	158224516	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CD1A:NM_001763:exon1:c.C57T:p.D19D,;ANNO=splicing:CD1A
1	158298712	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CD1B:NM_001764:exon5:c.C979T:p.R327W,;ANNO=splicing:CD1B
1	158326553	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CD1E:NM_001185107:exon5:c.G764A:p.S255N,CD1E:NM_030893:exon6:c.G1034A:p.S345N,CD1E:NM_001185112:exon4:c.G467A:p.S156N,CD1E:NM_001185114:exon5:c.G737A:p.S246N,CD1E:NM_001185113:exon4:c.G302A:p.S101N,;ANNO=splicing:CD1E(NM_001185110:c.266-1G>A,NM_001185108:c.563-1G>A,NM_001185115:c.728-1G>A,NM_001042586:c.431-1G>A,NM_001042585:c.833-1G>A,NM_001042583:c.998-1G>A)
1	158592982	.	C	T	100	PASS	AC=31;STUDIES=7;MAC=31;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPTA1:NM_003126:exon43:c.G5911A:p.D1971N,;ANNO=splicing:SPTA1
1	158641134	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPTA1:NM_003126:exon12:c.T1598C:p.I533T,;ANNO=splicing:SPTA1
1	158641242	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPTA1:NM_003126:exon12:c.C1490A:p.A497D,;ANNO=splicing:SPTA1
1	158641243	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPTA1:NM_003126:exon12:c.G1489T:p.A497S,;ANNO=splicing:SPTA1
1	158648324	.	C	T	100	PASS	AC=35;STUDIES=7;MAC=35;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPTA1:NM_003126:exon6:c.G679A:p.E227K,;ANNO=splicing:SPTA1
1	158651457	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPTA1:NM_003126:exon4:c.G391A:p.A131T,;ANNO=splicing:SPTA1
1	158655137	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPTA1:NM_003126:exon2:c.G25T:p.V9F,;ANNO=splicing:SPTA1
1	158813911	.	C	T	100	PASS	AC=16;STUDIES=7;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MNDA:NM_002432:exon4:c.C569T:p.P190L,;ANNO=splicing:MNDA
1	158813912	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MNDA:NM_002432:exon4:c.G570A:p.P190P,;ANNO=splicing:MNDA
1	158908213	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PYHIN1:NM_152501:exon3:c.G292A:p.V98I,PYHIN1:NM_198929:exon3:c.G292A:p.V98I,;ANNO=splicing:PYHIN1(NM_198930:c.265-1G>A,NM_198928:c.265-1G>A)
1	158979950	.	A	G	100	PASS	AC=411;STUDIES=2;MAC=411;MAF=0.208;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:IFI16
1	159163349	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CADM3:NM_021189:exon5:c.C621T:p.H207H,CADM3:NM_001127173:exon4:c.C519T:p.H173H,;ANNO=splicing:CADM3
1	159166681	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=synonymous:CADM3:NM_021189:exon8:c.C885A:p.V295V,CADM3:NM_001127173:exon7:c.C783A:p.V261V,;ANNO=synonymous:CADM3:NM_021189:exon8:c.C885T:p.V295V,CADM3:NM_001127173:exon7:c.C783T:p.V261V,;ANNO=splicing:CADM3;ANNO=splicing:CADM3
1	159272209	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FCER1A:NM_002001:exon2:c.G55A:p.A19T,;ANNO=splicing:FCER1A
1	159783343	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FCRL6:NM_001004310:exon7:c.C1074T:p.N358N,;ANNO=splicing:FCRL6
1	159783344	.	G	A	100	PASS	AC=78;STUDIES=10;MAC=78;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FCRL6:NM_001004310:exon7:c.G1075A:p.V359M,;ANNO=splicing:FCRL6
1	159799981	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLAMF8:NM_020125:exon2:c.C366T:p.Y122Y,;ANNO=splicing:SLAMF8
1	159799982	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLAMF8:NM_020125:exon2:c.G367A:p.D123N,;ANNO=splicing:SLAMF8
1	159824964	.	A	G	100	PASS	AC=32;STUDIES=2;MAC=32;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:C1orf204(NM_001134233:c.62+2T>C)
1	159824967	.	G	C	100	PASS	AC=7104;STUDIES=9;MAC=906;MAF=0.113;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C1orf204:NM_001134233:exon1:c.C61G:p.Q21E,;ANNO=splicing:C1orf204
1	159890121	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TAGLN2:NM_003564:exon2:c.C179T:p.T60M,;ANNO=splicing:TAGLN2
1	159899764	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IGSF9:NM_001135050:exon16:c.A2066T:p.D689V,IGSF9:NM_020789:exon16:c.A2018T:p.D673V,;ANNO=splicing:IGSF9
1	159923234	.	C	T	100	PASS	AC=287;STUDIES=11;MAC=287;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLAMF9:NM_001146172:exon2:c.G256A:p.V86M,SLAMF9:NM_033438:exon2:c.G256A:p.V86M,;ANNO=splicing:SLAMF9(NM_001146173:c.255+1G>A)
1	160093206	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ATP1A2:NM_000702:exon4:c.T381C:p.N127N,;ANNO=splicing:ATP1A2
1	160144538	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:ATP1A4(NM_144699:c.2311+1G>T)
1	160162591	.	G	C	100	PASS	AC=33;STUDIES=9;MAC=33;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CASQ1(NM_001231:c.279-1G>C)
1	160171036	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CASQ1:NM_001231:exon11:c.C1061T:p.A354V,;ANNO=splicing:CASQ1
1	160252291	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PEX19:NM_002857:exon4:c.C348T:p.G116G,PEX19:NM_001193644:exon4:c.C348T:p.G116G,;ANNO=splicing:PEX19
1	160323908	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:NCSTN:NM_015331:exon11:c.G1180C:p.V394L,;ANNO=splicing:NCSTN
1	160459989	.	G	A	100	PASS	AC=71;STUDIES=15;MAC=71;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLAMF6:NM_001184714:exon5:c.C795T:p.P265P,SLAMF6:NM_052931:exon5:c.C795T:p.P265P,SLAMF6:NM_001184715:exon5:c.C648T:p.P216P,SLAMF6:NM_001184716:exon4:c.C462T:p.P154P,;ANNO=splicing:SLAMF6
1	160607318	.	A	G	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLAMF1:NM_003037:exon2:c.T78C:p.G26G,;ANNO=splicing:SLAMF1
1	160717985	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLAMF7:NM_021181:exon2:c.G57T:p.G19G,;ANNO=splicing:SLAMF7
1	160784551	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LY9:NM_002348:exon4:c.C1072T:p.R358C,;ANNO=splicing:LY9
1	160786385	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LY9:NM_002348:exon5:c.C1074T:p.R358R,;ANNO=splicing:LY9
1	160811001	.	C	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CD244:NM_001166663:exon3:c.G669T:p.Q223H,CD244:NM_016382:exon3:c.G654T:p.Q218H,;ANNO=splicing:CD244
1	160811374	.	C	G	100	PASS	AC=88;STUDIES=15;MAC=88;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CD244:NM_001166663:exon2:c.G379C:p.E127Q,CD244:NM_016382:exon2:c.G379C:p.D127H,CD244:NM_001166664:exon2:c.G379C:p.E127Q,;ANNO=splicing:CD244
1	160849101	.	G	A	100	PASS	AC=92;STUDIES=8;MAC=92;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ITLN1:NM_017625:exon7:c.C789T:p.H263H,;ANNO=splicing:ITLN1
1	160850377	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITLN1(NM_017625:c.685+1G>A)
1	160850944	.	C	A	100	PASS	AC=12;STUDIES=9;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ITLN1:NM_017625:exon5:c.G564T:p.Q188H,;ANNO=splicing:ITLN1
1	160924178	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ITLN2:NM_080878:exon2:c.A78G:p.A26A,;ANNO=splicing:ITLN2
1	161044163	.	T	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PVRL4:NM_030916:exon6:c.A1001T:p.D334V,;ANNO=splicing:PVRL4
1	161044549	.	C	A	100	PASS	AC=57;STUDIES=13;MAC=57;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PVRL4:NM_030916:exon5:c.G852T:p.R284R,;ANNO=splicing:PVRL4
1	161069587	.	G	C	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KLHDC9(NM_152366:c.886+1G>C,NM_001007255:c.905+1G>C)
1	161126806	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UFC1:NM_016406:exon2:c.C190T:p.R64W,;ANNO=splicing:UFC1
1	161127107	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UFC1:NM_016406:exon3:c.C255T:p.D85D,;ANNO=splicing:UFC1
1	161163004	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADAMTS4:NM_005099:exon7:c.G1910A:p.R637Q,;ANNO=splicing:ADAMTS4
1	161165424	.	A	G	100	PASS	AC=203;STUDIES=10;MAC=203;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ADAMTS4:NM_005099:exon4:c.T1092C:p.G364G,;ANNO=splicing:ADAMTS4
1	161183265	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NDUFS2:NM_004550:exon12:c.G1212A:p.K404K,NDUFS2:NM_001166159:exon11:c.G1212A:p.K404K,;ANNO=splicing:NDUFS2
1	161198097	.	G	C	100	PASS	AC=26;STUDIES=4;MAC=26;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TOMM40L:NM_032174:exon7:c.G606C:p.S202S,;ANNO=splicing:TOMM40L
1	161200604	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NR1I3:NM_001077482:exon8:c.C943T:p.R315W,NR1I3:NM_001077475:exon6:c.C712T:p.R238C,NR1I3:NM_001077476:exon7:c.C844T:p.R282C,NR1I3:NM_001077471:exon7:c.C799T:p.R267W,NR1I3:NM_001077472:exon7:c.C844T:p.R282W,NR1I3:NM_001077474:exon7:c.C799T:p.R267C,NR1I3:NM_005122:exon8:c.C916T:p.R306W,NR1I3:NM_001077470:exon6:c.C712T:p.R238W,NR1I3:NM_001077469:exon8:c.C931T:p.R311C,NR1I3:NM_001077479:exon7:c.C829T:p.R277W,NR1I3:NM_001077478:exon8:c.C928T:p.R310C,NR1I3:NM_001077480:exon8:c.C928T:p.R310W,NR1I3:NM_001077477:exon7:c.C829T:p.R277C,NR1I3:NM_001077481:exon7:c.C814T:p.R272W,NR1I3:NM_001077473:exon7:c.C856T:p.R286C,;ANNO=splicing:NR1I3
1	161200707	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NR1I3:NM_001077482:exon8:c.C840T:p.D280D,NR1I3:NM_001077475:exon6:c.C609T:p.D203D,NR1I3:NM_001077476:exon7:c.C741T:p.D247D,NR1I3:NM_001077471:exon7:c.C696T:p.D232D,NR1I3:NM_001077472:exon7:c.C741T:p.D247D,NR1I3:NM_001077474:exon7:c.C696T:p.D232D,NR1I3:NM_005122:exon8:c.C813T:p.D271D,NR1I3:NM_001077470:exon6:c.C609T:p.D203D,NR1I3:NM_001077469:exon8:c.C828T:p.D276D,NR1I3:NM_001077479:exon7:c.C726T:p.D242D,NR1I3:NM_001077478:exon8:c.C825T:p.D275D,NR1I3:NM_001077480:exon8:c.C825T:p.D275D,NR1I3:NM_001077477:exon7:c.C726T:p.D242D,NR1I3:NM_001077481:exon7:c.C711T:p.D237D,NR1I3:NM_001077473:exon7:c.C753T:p.D251D,;ANNO=splicing:NR1I3
1	161337631	.	C	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf192(NM_001013625:c.27+1G>T)
1	161476380	.	C	T	100	PASS	AC=15;STUDIES=8;MAC=15;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:FCGR2A:NM_001136219:exon3:c.C363T:p.S121S,FCGR2A:NM_021642:exon3:c.C360T:p.S120S,;ANNO=splicing:FCGR2A
1	161483723	.	G	A	100	PASS	AC=54;STUDIES=6;MAC=54;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:FCGR2A(NM_021642:c.777+1G>A,NM_001136219:c.780+1G>A)
1	161565381	.	A	G	100	PASS	AC=1012;STUDIES=10;MAC=1012;MAF=0.097;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;HWE_FAILURES=2;ANNO=splicing:FCGR2C(NM_201563:c.798+1A>G)
1	161569419	.	C	G	100	PASS	AC=1428;STUDIES=3;MAC=558;MAF=0.281;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;HWE_FAILURES=5;ANNO=splicing:FCGR2C(NM_201563:c.798-1C>G)
1	161696782	.	G	C	100	PASS	AC=8340;STUDIES=19;MAC=8340;MAF=0.420;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:FCRLB:NM_001002901:exon5:c.G864C:p.P288P,;ANNO=splicing:FCRLB
1	161726951	.	G	C	100	PASS	AC=51;STUDIES=2;MAC=51;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:DUSP12
1	161987190	.	C	G	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OLFML2B:NM_015441:exon3:c.G546C:p.E182D,;ANNO=splicing:OLFML2B
1	162372530	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SH2D1B:NM_053282:exon2:c.A197G:p.Q66R,;ANNO=splicing:SH2D1B
1	162381672	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SH2D1B(NM_053282:c.134+1G>A)
1	162482366	.	G	C	100	PASS	AC=44;STUDIES=14;MAC=44;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UHMK1:NM_175866:exon5:c.G925C:p.A309P,UHMK1:NM_144624:exon5:c.G925C:p.A309P,UHMK1:NM_001184763:exon5:c.G703C:p.A235P,;ANNO=splicing:UHMK1
1	162557457	.	A	G	100	PASS	AC=31;STUDIES=9;MAC=31;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:UAP1:NM_003115:exon6:c.A1027G:p.N343D,;ANNO=splicing:UAP1
1	162560114	.	A	C	100	PASS	AC=169;STUDIES=10;MAC=169;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UAP1:NM_003115:exon8:c.A1171C:p.K391Q,;ANNO=splicing:UAP1
1	162724415	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DDR2:NM_001014796:exon6:c.C187G:p.L63V,DDR2:NM_006182:exon5:c.C187G:p.L63V,;ANNO=splicing:DDR2
1	162829449	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf110
1	163306638	.	T	C	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NUF2:NM_031423:exon6:c.T435C:p.Y145Y,NUF2:NM_145697:exon6:c.T435C:p.Y145Y,;ANNO=splicing:NUF2
1	163309266	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NUF2:NM_031423:exon8:c.C605T:p.T202M,NUF2:NM_145697:exon8:c.C605T:p.T202M,;ANNO=splicing:NUF2
1	164532475	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PBX1:NM_001204961:exon2:c.A192G:p.R64R,PBX1:NM_001204963:exon2:c.A192G:p.R64R,PBX1:NM_002585:exon2:c.A192G:p.R64R,;ANNO=splicing:PBX1
1	165619079	.	C	T	100	PASS	AC=373;STUDIES=12;MAC=373;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:MGST3
1	165667614	.	C	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ALDH9A1(NM_000696:c.181+1G>C)
1	165859599	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:UCK2:NM_012474:exon2:c.G258A:p.P86P,;ANNO=splicing:UCK2
1	166890616	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ILDR2:NM_199351:exon9:c.C1212G:p.S404R,;ANNO=splicing:ILDR2
1	167024212	.	C	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GPA33(NM_005814:c.827+1G>T)
1	167042622	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GPA33:NM_005814:exon2:c.G198A:p.T66T,;ANNO=splicing:GPA33
1	167358825	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:POU2F1:NM_002697:exon9:c.C814G:p.P272A,POU2F1:NM_001198786:exon8:c.C625G:p.P209A,POU2F1:NM_001198783:exon9:c.C781G:p.P261A,;ANNO=splicing:POU2F1
1	167402295	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CD247:NM_198053:exon7:c.G395A:p.R132H,CD247:NM_000734:exon7:c.G392A:p.R131H,;ANNO=splicing:CD247
1	167404671	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:CD247:NM_198053:exon5:c.C301T:p.Q101X,;ANNO=splicing:CD247
1	167802226	.	C	T	100	PASS	AC=21;STUDIES=10;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADCY10:NM_001167749:exon22:c.G3133A:p.G1045R,ADCY10:NM_018417:exon25:c.G3592A:p.G1198R,;ANNO=splicing:ADCY10
1	167805777	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADCY10:NM_001167749:exon20:c.C2620T:p.P874S,ADCY10:NM_018417:exon23:c.C3079T:p.P1027S,;ANNO=splicing:ADCY10
1	168014138	.	C	T	100	PASS	AC=264;STUDIES=10;MAC=264;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DCAF6:NM_001198957:exon15:c.C1838T:p.T613I,DCAF6:NM_001198956:exon16:c.C1931T:p.T644I,DCAF6:NM_001017977:exon14:c.C1700T:p.T567I,DCAF6:NM_018442:exon15:c.C1760T:p.T587I,;ANNO=splicing:DCAF6
1	168511346	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;SNP_ON_RIGHT;ANNO=splicing:XCL2(NM_003175:c.61-1G>A)
1	168549415	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:XCL1:NM_002995:exon2:c.T176C:p.I59T,;ANNO=splicing:XCL1
1	169094276	.	C	T	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ATP1B1:NM_001677:exon3:c.C381T:p.G127G,;ANNO=splicing:ATP1B1
1	169292355	.	T	A	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NME7:NM_197972:exon3:c.A170T:p.K57I,NME7:NM_013330:exon3:c.A278T:p.K93I,;ANNO=splicing:NME7
1	169435214	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC19A2:NM_006996:exon6:c.T1367A:p.F456Y,;ANNO=splicing:SLC19A2
1	169565372	.	C	A	100	PASS	AC=28;STUDIES=6;MAC=28;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SELP:NM_003005:exon12:c.G1892T:p.G631V,;ANNO=splicing:SELP
1	169576372	.	G	C	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SELP:NM_003005:exon9:c.C1334G:p.A445G,;ANNO=splicing:SELP
1	169582825	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SELP:NM_003005:exon4:c.C588T:p.Y196Y,;ANNO=splicing:SELP
1	169670700	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SELL(NM_000655:c.1120+1G>A)
1	169816943	.	A	G	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C1orf112:NM_018186:exon20:c.A2057G:p.Q686R,;ANNO=splicing:C1orf112
1	169824104	.	G	A	100	PASS	AC=1801;STUDIES=22;MAC=1801;MAF=0.075;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SCYL3:NM_181093:exon13:c.C1476T:p.G492G,SCYL3:NM_020423:exon12:c.C1314T:p.G438G,;ANNO=splicing:SCYL3
1	170705189	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:PRRX1:NM_022716:exon4:c.C600A:p.S200R,;ANNO=synonymous:PRRX1:NM_022716:exon4:c.C600T:p.S200S,;ANNO=splicing:PRRX1;ANNO=splicing:PRRX1
1	170934292	.	G	A	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C1orf129:NM_025063:exon7:c.G376A:p.E126K,C1orf129:NM_001163629:exon7:c.G376A:p.E126K,;ANNO=splicing:C1orf129
1	170941023	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C1orf129:NM_025063:exon8:c.C615T:p.N205N,C1orf129:NM_001163629:exon8:c.C615T:p.N205N,;ANNO=splicing:C1orf129
1	171179939	.	G	T	100	PASS	AC=649;STUDIES=2;MAC=649;MAF=0.339;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:FMO2
1	171496928	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRRC2C(NM_015172:c.1194-2A>G)
1	171537387	.	A	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRRC2C:NM_015172:exon23:c.A6554T:p.E2185V,;ANNO=splicing:PRRC2C
1	171707490	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:VAMP4:NM_001185127:exon2:c.G65C:p.R22T,VAMP4:NM_003762:exon2:c.G65C:p.R22T,;ANNO=nonsynonymous:VAMP4:NM_001185127:exon2:c.G65A:p.R22K,VAMP4:NM_003762:exon2:c.G65A:p.R22K,;ANNO=splicing:VAMP4;ANNO=splicing:VAMP4
1	171761155	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:METTL13(NM_014955:c.1216-2A>G,NM_015935:c.1474-2A>G,NM_001007239:c.1006-2A>G)
1	171956944	.	C	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DNM3:NM_015569:exon3:c.C384T:p.H128H,DNM3:NM_001136127:exon3:c.C384T:p.H128H,;ANNO=splicing:DNM3
1	172348322	.	C	T	100	PASS	AC=84;STUDIES=9;MAC=84;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DNM3:NM_015569:exon18:c.C2058T:p.N686N,DNM3:NM_001136127:exon17:c.C2046T:p.N682N,;ANNO=splicing:DNM3
1	172431386	.	G	A	100	PASS	AC=1218;STUDIES=17;MAC=1218;MAF=0.060;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf105(NM_139240:c.341+1G>A)
1	172548342	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C1orf9:NM_014283:exon15:c.A1433G:p.D478G,C1orf9:NM_016227:exon13:c.A1301G:p.D434G,;ANNO=splicing:C1orf9
1	173472465	.	G	A	100	PASS	AC=871;STUDIES=21;MAC=871;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC9A11:NM_178527:exon27:c.C3311T:p.A1104V,;ANNO=splicing:SLC9A11
1	173495803	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC9A11:NM_178527:exon19:c.A2364T:p.L788F,;ANNO=splicing:SLC9A11
1	173800770	.	T	C	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DARS2(NM_018122:c.492+2T>C)
1	174926686	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RABGAP1L:NM_014857:exon20:c.G2433A:p.K811K,RABGAP1L:NM_001035230:exon3:c.G204A:p.K68K,;ANNO=splicing:RABGAP1L
1	175063127	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TNN:NM_022093:exon7:c.A1326C:p.E442D,;ANNO=splicing:TNN
1	175066551	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TNN(NM_022093:c.1588-2A>T)
1	175097299	.	A	G	100	PASS	AC=66;STUDIES=15;MAC=66;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TNN:NM_022093:exon14:c.A3177G:p.T1059T,;ANNO=splicing:TNN
1	175097731	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TNN:NM_022093:exon15:c.T3179A:p.V1060D,;ANNO=splicing:TNN
1	176132950	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RFWD2(NM_022457:c.642+1G>A)
1	176640107	.	G	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PAPPA2:NM_020318:exon4:c.G1993T:p.A665S,PAPPA2:NM_021936:exon4:c.G1993T:p.A665S,;ANNO=splicing:PAPPA2
1	176679311	.	T	C	100	PASS	AC=56;STUDIES=15;MAC=56;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PAPPA2:NM_020318:exon11:c.T3650C:p.L1217P,;ANNO=splicing:PAPPA2
1	176681116	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PAPPA2:NM_020318:exon12:c.A3797G:p.K1266R,;ANNO=splicing:PAPPA2
1	176760483	.	C	T	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PAPPA2:NM_020318:exon19:c.C4885T:p.L1629F,;ANNO=splicing:PAPPA2
1	177225056	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM5B:NM_021165:exon3:c.G271C:p.E91Q,;ANNO=splicing:FAM5B
1	178490010	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf49(NM_001170723:c.543+1G>A,NM_001170722:c.567+1G>A,NM_001170724:c.543+1G>A,NM_032126:c.543+1G>A)
1	178753657	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RALGPS2:NM_152663:exon3:c.G162A:p.A54A,;ANNO=splicing:RALGPS2
1	179055029	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TOR3A(NM_022371:c.639+1G>A)
1	179078344	.	C	A	100	PASS	AC=29;STUDIES=5;MAC=29;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ABL2:NM_001168239:exon11:c.G1950T:p.T650T,ABL2:NM_001168236:exon11:c.G1995T:p.T665T,ABL2:NM_005158:exon12:c.G2013T:p.T671T,ABL2:NM_001168238:exon11:c.G1995T:p.T665T,ABL2:NM_007314:exon12:c.G2058T:p.T686T,ABL2:NM_001136000:exon12:c.G2013T:p.T671T,ABL2:NM_001168237:exon12:c.G2058T:p.T686T,;ANNO=splicing:ABL2
1	179079416	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABL2(NM_007314:c.1825+1G>A,NM_005158:c.1780+1G>A,NM_001168239:c.1717+1G>A,NM_001168238:c.1762+1G>A,NM_001168237:c.1825+1G>A,NM_001136000:c.1780+1G>A,NM_001168236:c.1762+1G>A)
1	179354495	.	G	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AXDND1(NM_144696:c.863+1G>T)
1	179414105	.	A	C	100	PASS	AC=6964;STUDIES=22;MAC=6964;MAF=0.288;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:AXDND1:NM_144696:exon16:c.A1564C:p.I522L,;ANNO=splicing:AXDND1
1	179437777	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AXDND1(NM_144696:c.1997+1G>A)
1	179876957	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TOR1AIP1(NM_015602:c.796-1G>T)
1	179883134	.	T	C	100	PASS	AC=112;STUDIES=6;MAC=112;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TOR1AIP1:NM_015602:exon9:c.T909C:p.N303N,;ANNO=splicing:TOR1AIP1
1	179883190	.	G	A	100	PASS	AC=82;STUDIES=5;MAC=82;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TOR1AIP1(NM_015602:c.964+1G>A)
1	180013308	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CEP350:NM_014810:exon21:c.G4622A:p.R1541K,;ANNO=splicing:CEP350
1	180235728	.	C	T	100	PASS	AC=626;STUDIES=22;MAC=626;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LHX4:NM_033343:exon3:c.C450T:p.N150N,;ANNO=splicing:LHX4
1	180240971	.	T	G	100	PASS	AC=21;STUDIES=2;MAC=21;MAF=0.038;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LHX4:NM_033343:exon5:c.T608G:p.V203G,;ANNO=splicing:LHX4
1	180885290	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KIAA1614:NM_020950:exon2:c.A51G:p.Q17Q,;ANNO=splicing:KIAA1614
1	180897709	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1614:NM_020950:exon4:c.G1205A:p.R402Q,;ANNO=splicing:KIAA1614
1	180910180	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA1614(NM_020950:c.2918-1G>C)
1	180910421	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KIAA1614:NM_020950:exon7:c.G3159A:p.P1053P,;ANNO=splicing:KIAA1614
1	180962499	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:STX6:NM_005819:exon4:c.G363A:p.Q121Q,;ANNO=splicing:STX6
1	182423094	.	G	T	100	PASS	AC=30;STUDIES=4;MAC=30;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RGSL1:NM_001137669:exon2:c.G15T:p.E5D,;ANNO=splicing:RGSL1
1	182550360	.	C	T	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RNASEL:NM_021133:exon5:c.G1905A:p.K635K,;ANNO=splicing:RNASEL
1	182571619	.	A	C	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RGS16:NM_002928:exon3:c.T156G:p.N52K,;ANNO=splicing:RGS16
1	182640864	.	T	C	100	PASS	AC=2390;STUDIES=21;MAC=2390;MAF=0.104;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:RGS8:NM_033345:exon2:c.A8G:p.N3S,;ANNO=splicing:RGS8
1	182850399	.	C	T	100	PASS	AC=205;STUDIES=19;MAC=205;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:DHX9:NM_001357:exon23:c.C2625T:p.Y875Y,;ANNO=splicing:DHX9
1	183100512	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LAMC1:NM_002293:exon20:c.C3565T:p.R1189C,;ANNO=splicing:LAMC1
1	183194744	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LAMC2:NM_018891:exon8:c.T955C:p.L319L,LAMC2:NM_005562:exon8:c.T955C:p.L319L,;ANNO=splicing:LAMC2
1	183196831	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LAMC2:NM_018891:exon10:c.C1467T:p.T489T,LAMC2:NM_005562:exon10:c.C1467T:p.T489T,;ANNO=splicing:LAMC2
1	183221878	.	C	T	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NMNAT2:NM_015039:exon11:c.G822A:p.R274R,NMNAT2:NM_170706:exon11:c.G807A:p.R269R,;ANNO=splicing:NMNAT2
1	183253173	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NMNAT2:NM_015039:exon7:c.T531C:p.D177D,NMNAT2:NM_170706:exon7:c.T516C:p.D172D,;ANNO=splicing:NMNAT2
1	183485010	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SMG7:NM_201569:exon3:c.T63C:p.D21D,SMG7:NM_173156:exon3:c.T63C:p.D21D,SMG7:NM_201568:exon3:c.T63C:p.D21D,;ANNO=splicing:SMG7
1	183835130	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RGL1:NM_015149:exon5:c.G453A:p.R151R,;ANNO=splicing:RGL1
1	183923972	.	A	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GLT25D2:NM_015101:exon7:c.T953C:p.I318T,;ANNO=splicing:GLT25D2
1	184567536	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C1orf21:NM_030806:exon5:c.A268G:p.M90V,;ANNO=splicing:C1orf21
1	184690424	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EDEM3:NM_025191:exon9:c.C950T:p.T317I,;ANNO=splicing:EDEM3
1	184787958	.	C	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FAM129A:NM_052966:exon9:c.G987A:p.A329A,;ANNO=splicing:FAM129A
1	184853765	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM129A(NM_052966:c.601+2T>C)
1	186026366	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HMCN1:NM_031935:exon46:c.C7145T:p.A2382V,;ANNO=splicing:HMCN1
1	186034371	.	G	T	100	PASS	AC=73;STUDIES=19;MAC=73;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HMCN1:NM_031935:exon49:c.G7515T:p.G2505G,;ANNO=splicing:HMCN1
1	186043873	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:HMCN1:NM_031935:exon53:c.C8140A:p.P2714T,;ANNO=nonsynonymous:HMCN1:NM_031935:exon53:c.C8140G:p.P2714A,;ANNO=splicing:HMCN1;ANNO=splicing:HMCN1
1	186051998	.	T	C	100	PASS	AC=58;STUDIES=5;MAC=58;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HMCN1:NM_031935:exon57:c.T8789C:p.I2930T,;ANNO=splicing:HMCN1
1	186099099	.	C	T	100	PASS	AC=33;STUDIES=10;MAC=33;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HMCN1:NM_031935:exon84:c.C12906T:p.A4302A,;ANNO=splicing:HMCN1
1	186105800	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:HMCN1:NM_031935:exon87:c.G13313A:p.S4438N,;ANNO=splicing:HMCN1
1	186113475	.	A	G	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HMCN1:NM_031935:exon90:c.A14095G:p.I4699V,;ANNO=splicing:HMCN1
1	186269344	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PRG4:NM_001127709:exon3:c.G198A:p.A66A,PRG4:NM_005807:exon3:c.G198A:p.A66A,;ANNO=splicing:PRG4
1	186273389	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PRG4:NM_005807:exon5:c.G469A:p.E157K,PRG4:NM_001127708:exon4:c.G346A:p.E116K,;ANNO=splicing:PRG4
1	186320462	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TPR:NM_003292:exon20:c.T2610C:p.D870D,;ANNO=splicing:TPR
1	186321242	.	C	T	100	PASS	AC=3406;STUDIES=22;MAC=3406;MAF=0.141;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TPR:NM_003292:exon19:c.G2335A:p.V779I,;ANNO=splicing:TPR
1	186948448	.	T	G	100	PASS	AC=23;STUDIES=5;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLA2G4A:NM_024420:exon17:c.T1962G:p.G654G,;ANNO=splicing:PLA2G4A
1	193181196	.	T	G	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CDC73:NM_024529:exon12:c.T1032G:p.V344V,;ANNO=splicing:CDC73
1	196309700	.	C	T	100	PASS	AC=37;STUDIES=6;MAC=37;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KCNT2:NM_198503:exon16:c.G1554A:p.K518K,;ANNO=splicing:KCNT2
1	196694427	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:CFH:NM_000186:exon12:c.G1873T:p.E625X,;ANNO=splicing:CFH
1	196757530	.	T	C	100	PASS	AC=53;STUDIES=10;MAC=53;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:CFHR3(NM_021023:c.613+2T>C)
1	196799813	.	G	A	100	PASS	AC=21;STUDIES=3;MAC=21;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;HWE_FAILURES=2;ANNO=splicing:CFHR1(NM_002113:c.790+1G>A)
1	196871551	.	T	C	100	PASS	AC=83;STUDIES=7;MAC=83;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CFHR4:NM_001201551:exon2:c.T59C:p.V20A,CFHR4:NM_001201550:exon2:c.T62C:p.V21A,CFHR4:NM_006684:exon2:c.T62C:p.V21A,;ANNO=splicing:CFHR4
1	196883626	.	A	G	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:CFHR4:NM_001201551:exon8:c.A1179G:p.K393K,CFHR4:NM_001201550:exon8:c.A1182G:p.K394K,CFHR4:NM_006684:exon4:c.A441G:p.K147K,;ANNO=splicing:CFHR4
1	196919982	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CFHR2:NM_005666:exon3:c.G254T:p.R85I,;ANNO=splicing:CFHR2
1	196953266	.	T	C	100	PASS	AC=89;STUDIES=6;MAC=89;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CFHR5:NM_030787:exon3:c.T429C:p.T143T,;ANNO=splicing:CFHR5
1	196963210	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:CFHR5:NM_030787:exon4:c.A431G:p.K144R,;ANNO=splicing:CFHR5
1	196963211	.	A	T	100	PASS	AC=14;STUDIES=8;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:CFHR5:NM_030787:exon4:c.A432T:p.K144N,;ANNO=splicing:CFHR5
1	196973789	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CFHR5(NM_030787:c.1330-2A>G)
1	197062180	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ASPM(NM_018136:c.9294+2T>C,NM_001206846:c.4539+2T>C)
1	197396584	.	A	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CRB1:NM_201253:exon7:c.A2129T:p.E710V,CRB1:NM_001193640:exon5:c.A1793T:p.E598V,;ANNO=splicing:CRB1
1	197403836	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CRB1:NM_201253:exon9:c.G2843A:p.C948Y,CRB1:NM_001193640:exon7:c.G2507A:p.C836Y,;ANNO=splicing:CRB1
1	197621365	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DENND1B:NM_001195215:exon7:c.G447A:p.V149V,DENND1B:NM_144977:exon7:c.G447A:p.V149V,;ANNO=splicing:DENND1B
1	197684161	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DENND1B:NM_001195215:exon3:c.G126A:p.Q42Q,DENND1B:NM_144977:exon3:c.G126A:p.Q42Q,;ANNO=splicing:DENND1B
1	197881691	.	T	G	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LHX9(NM_001014434:c.28+2T>G)
1	200539038	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIF14(NM_014875:c.3661+1G>T)
1	200539040	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KIF14:NM_014875:exon23:c.A3660G:p.S1220S,;ANNO=splicing:KIF14
1	200959266	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KIF21B:NM_017596:exon20:c.G3030A:p.K1010K,;ANNO=splicing:KIF21B
1	201010719	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CACNA1S(NM_000069:c.5048-2A>G)
1	201022587	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CACNA1S:NM_000069:exon30:c.G3795T:p.Q1265H,;ANNO=splicing:CACNA1S
1	201035444	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CACNA1S:NM_000069:exon21:c.G2658A:p.E886E,;ANNO=splicing:CACNA1S
1	201047231	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CACNA1S:NM_000069:exon11:c.C1395T:p.D465D,;ANNO=splicing:CACNA1S
1	201054159	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CACNA1S:NM_000069:exon9:c.G1151A:p.G384E,;ANNO=splicing:CACNA1S
1	201058386	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:CACNA1S:NM_000069:exon6:c.G900A:p.W300X,;ANNO=splicing:CACNA1S
1	201061101	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CACNA1S:NM_000069:exon4:c.T540C:p.P180P,;ANNO=splicing:CACNA1S
1	201185881	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IGFN1:NM_001164586:exon16:c.G9595A:p.A3199T,;ANNO=splicing:IGFN1
1	201263173	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PKP1:NM_000299:exon2:c.G306A:p.P102P,PKP1:NM_001005337:exon2:c.G306A:p.P102P,;ANNO=splicing:PKP1
1	201354830	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LAD1:NM_005558:exon4:c.G1130A:p.R377Q,;ANNO=splicing:LAD1
1	201786413	.	G	C	100	PASS	AC=164;STUDIES=8;MAC=164;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NAV1:NM_001167738:exon26:c.G4356C:p.L1452L,NAV1:NM_020443:exon29:c.G5538C:p.L1846L,;ANNO=splicing:NAV1
1	201843378	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IPO9:NM_018085:exon21:c.A2711G:p.N904S,;ANNO=splicing:IPO9
1	201952241	.	G	C	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=synonymous:RNPEP:NM_020216:exon1:c.G447C:p.G149G,;ANNO=splicing:RNPEP
1	201958031	.	G	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RNPEP(NM_020216:c.447-1G>C)
1	201970505	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RNPEP:NM_020216:exon7:c.C1206T:p.G402G,;ANNO=splicing:RNPEP
1	201970787	.	G	C	100	PASS	AC=20;STUDIES=9;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RNPEP:NM_020216:exon8:c.G1318C:p.A440P,;ANNO=splicing:RNPEP
1	201981472	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ELF3:NM_001114309:exon4:c.C386T:p.T129I,ELF3:NM_004433:exon4:c.C386T:p.T129I,;ANNO=splicing:ELF3
1	201982163	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ELF3:NM_001114309:exon6:c.C687T:p.S229S,ELF3:NM_004433:exon6:c.C687T:p.S229S,;ANNO=splicing:ELF3
1	201982958	.	G	A	100	PASS	AC=47;STUDIES=14;MAC=47;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ELF3:NM_001114309:exon8:c.G807A:p.A269A,ELF3:NM_004433:exon8:c.G807A:p.A269A,;ANNO=splicing:ELF3
1	202279484	.	C	T	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LGR6:NM_021636:exon16:c.C1410T:p.H470H,LGR6:NM_001017403:exon16:c.C1566T:p.H522H,LGR6:NM_001017404:exon14:c.C1149T:p.H383H,;ANNO=splicing:LGR6
1	202715270	.	C	T	100	PASS	AC=41;STUDIES=14;MAC=41;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KDM5B:NM_006618:exon15:c.G2198A:p.R733Q,;ANNO=splicing:KDM5B
1	202715271	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KDM5B:NM_006618:exon15:c.C2197T:p.R733W,;ANNO=splicing:KDM5B
1	202733178	.	A	G	100	PASS	AC=608;STUDIES=21;MAC=608;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KDM5B:NM_006618:exon6:c.T807C:p.N269N,;ANNO=splicing:KDM5B
1	202933738	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CYB5R1(NM_016243:c.559+2T>A)
1	202935878	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CYB5R1:NM_016243:exon2:c.C164T:p.T55M,;ANNO=splicing:CYB5R1
1	203025635	.	A	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PPFIA4:NM_015053:exon5:c.A721G:p.S241G,;ANNO=splicing:PPFIA4
1	203033131	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PPFIA4:NM_015053:exon12:c.G1532A:p.R511Q,;ANNO=splicing:PPFIA4
1	203143725	.	G	C	100	PASS	AC=4593;STUDIES=22;MAC=4593;MAF=0.190;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYBPH:NM_004997:exon3:c.C341G:p.A114G,;ANNO=splicing:MYBPH
1	203154512	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CHI3L1:NM_001276:exon3:c.C57T:p.C19C,;ANNO=splicing:CHI3L1
1	203188792	.	T	C	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CHIT1:NM_003465:exon8:c.A915G:p.E305E,;ANNO=splicing:CHIT1
1	203194175	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CHIT1(NM_003465:c.314+1G>T)
1	203309752	.	T	C	100	PASS	AC=503;STUDIES=2;MAC=503;MAF=0.258;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:FMOD
1	203690537	.	G	A	100	PASS	AC=282;STUDIES=20;MAC=282;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ATP2B4:NM_001001396:exon17:c.G2811A:p.A937A,ATP2B4:NM_001684:exon17:c.G2811A:p.A937A,;ANNO=splicing:ATP2B4
1	203743003	.	C	A	100	PASS	AC=106;STUDIES=8;MAC=106;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LAX1:NM_017773:exon5:c.C391A:p.P131T,LAX1:NM_001136190:exon5:c.C343A:p.P115T,;ANNO=splicing:LAX1
1	203823256	.	A	G	100	PASS	AC=283;STUDIES=2;MAC=283;MAF=0.143;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:ZC3H11A
1	204094987	.	C	T	100	PASS	AC=266;STUDIES=17;MAC=266;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SOX13:NM_005686:exon14:c.C1594T:p.P532S,;ANNO=splicing:SOX13
1	204135325	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:REN:NM_000537:exon1:c.C97T:p.R33W,;ANNO=splicing:REN
1	204197356	.	A	G	100	PASS	AC=24;STUDIES=4;MAC=24;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLEKHA6:NM_014935:exon21:c.T2886C:p.S962S,;ANNO=splicing:PLEKHA6
1	204217950	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLEKHA6:NM_014935:exon12:c.C1823T:p.T608M,;ANNO=splicing:PLEKHA6
1	204230576	.	C	T	100	PASS	AC=82;STUDIES=14;MAC=82;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:PLEKHA6:NM_014935:exon7:c.G382A:p.A128T,;ANNO=splicing:PLEKHA6
1	204429679	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PIK3C2B:NM_002646:exon7:c.C1421T:p.T474M,;ANNO=splicing:PIK3C2B
1	204515925	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MDM4:NM_002393:exon10:c.G823T:p.V275L,MDM4:NM_001204171:exon9:c.G673T:p.V225L,;ANNO=splicing:MDM4
1	205027192	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CNTN2:NM_005076:exon3:c.C214T:p.R72W,;ANNO=splicing:CNTN2
1	205027193	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CNTN2:NM_005076:exon3:c.G215A:p.R72Q,;ANNO=splicing:CNTN2
1	205027790	.	A	C	100	PASS	AC=940;STUDIES=22;MAC=940;MAF=0.039;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CNTN2:NM_005076:exon5:c.A486C:p.P162P,;ANNO=splicing:CNTN2
1	205034390	.	G	A	100	PASS	AC=16;STUDIES=10;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CNTN2:NM_005076:exon13:c.G1695A:p.V565V,;ANNO=splicing:CNTN2
1	205035727	.	A	G	100	PASS	AC=203;STUDIES=18;MAC=203;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CNTN2:NM_005076:exon15:c.A1975G:p.N659D,;ANNO=splicing:CNTN2
1	205156545	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DSTYK(NM_015375:c.654+1G>A,NM_199462:c.654+1G>A)
1	205353492	.	A	C	100	PASS	AC=290;STUDIES=5;MAC=290;MAF=0.066;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LEMD1:NM_001199051:exon4:c.T148G:p.W50G,LEMD1:NM_001199050:exon5:c.T271G:p.W91G,;ANNO=splicing:LEMD1
1	205498647	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDK18(NM_212502:c.1178-2A>G,NM_212503:c.1268-2A>G,NM_002596:c.1178-2A>G)
1	205499478	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDK18(NM_212502:c.1312+1G>A,NM_212503:c.1402+1G>A,NM_002596:c.1312+1G>A)
1	205812795	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PM20D1:NM_152491:exon6:c.G827A:p.R276Q,;ANNO=splicing:PM20D1
1	205889305	.	A	G	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC26A9:NM_134325:exon18:c.T2109C:p.H703H,SLC26A9:NM_052934:exon18:c.T2109C:p.H703H,;ANNO=splicing:SLC26A9
1	205893512	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC26A9:NM_134325:exon13:c.T1495C:p.F499L,SLC26A9:NM_052934:exon13:c.T1495C:p.F499L,;ANNO=splicing:SLC26A9
1	206317643	.	A	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CTSE:NM_001910:exon1:c.A67T:p.R23W,CTSE:NM_148964:exon1:c.A67T:p.R23W,;ANNO=splicing:CTSE
1	206327598	.	T	C	100	PASS	AC=25;STUDIES=6;MAC=25;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CTSE(NM_148964:c.785+2T>C,NM_001910:c.785+2T>C)
1	206623809	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:SRGAP2:NM_001170637:exon16:c.C1915T:p.R639X,SRGAP2:NM_001042758:exon16:c.C1918T:p.R640X,SRGAP2:NM_015326:exon16:c.C1918T:p.R640X,;ANNO=splicing:SRGAP2
1	206626547	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SRGAP2:NM_001170637:exon17:c.A1918G:p.M640V,SRGAP2:NM_001042758:exon17:c.A1921G:p.M641V,SRGAP2:NM_015326:exon17:c.A1921G:p.M641V,;ANNO=splicing:SRGAP2
1	206652475	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IKBKE:NM_001193322:exon10:c.C1182T:p.D394D,IKBKE:NM_001193321:exon9:c.C927T:p.D309D,IKBKE:NM_014002:exon10:c.C1182T:p.D394D,;ANNO=splicing:IKBKE
1	206653876	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IKBKE:NM_001193322:exon13:c.G1427A:p.R476K,IKBKE:NM_001193321:exon12:c.G1172A:p.R391K,IKBKE:NM_014002:exon13:c.G1427A:p.R476K,;ANNO=splicing:IKBKE
1	206770544	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EIF2D:NM_006893:exon12:c.C1294G:p.L432V,EIF2D:NM_001201478:exon10:c.C922G:p.L308V,;ANNO=splicing:EIF2D
1	206905263	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MAPKAPK2:NM_032960:exon9:c.A1058G:p.K353R,MAPKAPK2:NM_004759:exon9:c.A1058G:p.K353R,;ANNO=splicing:MAPKAPK2
1	207014348	.	G	A	100	PASS	AC=32;STUDIES=6;MAC=32;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IL19(NM_153758:c.477-1G>A,NM_013371:c.363-1G>A)
1	207039710	.	G	T	100	PASS	AC=14;STUDIES=9;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IL20(NM_018724:c.225+1G>T)
1	207040730	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IL20:NM_018724:exon4:c.A380G:p.H127R,;ANNO=splicing:IL20
1	207041833	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IL20:NM_018724:exon5:c.T455C:p.L152P,;ANNO=splicing:IL20
1	207073701	.	C	T	100	PASS	AC=40;STUDIES=15;MAC=40;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IL24:NM_001185156:exon4:c.C305T:p.S102L,IL24:NM_001185157:exon4:c.C305T:p.S102L,IL24:NM_006850:exon4:c.C302T:p.S101L,IL24:NM_001185158:exon3:c.C106T:p.R36C,;ANNO=splicing:IL24
1	207076321	.	T	G	100	PASS	AC=43;STUDIES=12;MAC=43;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IL24:NM_001185156:exon7:c.T541G:p.L181V,IL24:NM_001185157:exon6:c.T382G:p.L128V,IL24:NM_006850:exon7:c.T538G:p.L180V,IL24:NM_001185158:exon5:c.T183G:p.S61R,;ANNO=splicing:IL24
1	207107766	.	C	T	100	PASS	AC=20;STUDIES=5;MAC=20;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PIGR:NM_002644:exon6:c.G1704A:p.A568A,;ANNO=splicing:PIGR
1	207241655	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PFKFB2(NM_006212:c.987+1G>A,NM_001018053:c.987+1G>A)
1	207512742	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CD55:NM_000574:exon9:c.G1061C:p.G354A,CD55:NM_001114752:exon9:c.G1061C:p.G354A,;ANNO=splicing:CD55
1	207651416	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CR2(NM_001877:c.2911+1G>A,NM_001006658:c.3088+1G>A)
1	207653397	.	C	T	100	PASS	AC=15;STUDIES=4;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:CR2:NM_001006658:exon18:c.C3187T:p.R1063C,CR2:NM_001877:exon17:c.C3010T:p.R1004C,;ANNO=splicing:CR2
1	207679429	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CR1(NM_000573:c.301+1G>A,NM_000651:c.301+1G>A)
1	207755348	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CR1:NM_000651:exon32:c.C5302T:p.H1768Y,CR1:NM_000573:exon24:c.C3952T:p.H1318Y,;ANNO=splicing:CR1
1	207780596	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CR1:NM_000651:exon36:c.G5811T:p.G1937G,CR1:NM_000573:exon28:c.G4461T:p.G1487G,;ANNO=splicing:CR1
1	207793411	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CR1(NM_000573:c.5902+1G>A,NM_000651:c.7252+1G>A)
1	207930546	.	T	C	100	PASS	AC=33;STUDIES=13;MAC=33;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:CD46:NM_153826:exon2:c.T285C:p.Y95Y,CD46:NM_172351:exon2:c.T285C:p.Y95Y,CD46:NM_172353:exon2:c.T285C:p.Y95Y,CD46:NM_002389:exon2:c.T285C:p.Y95Y,CD46:NM_172350:exon2:c.T285C:p.Y95Y,CD46:NM_172359:exon2:c.T285C:p.Y95Y,CD46:NM_172352:exon2:c.T285C:p.Y95Y,CD46:NM_172361:exon2:c.T285C:p.Y95Y,;ANNO=splicing:CD46
1	207956636	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD46(NM_172351:c.943-1G>C,NM_153826:c.943-1G>C,NM_002389:c.988-1G>C,NM_172352:c.898-1G>C,NM_172350:c.898-1G>C,NM_172353:c.898-1G>C,NM_172361:c.856-1G>C,NM_172359:c.988-1G>C)
1	208061267	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CD34:NM_001025109:exon8:c.G974A:p.G325D,;ANNO=splicing:CD34
1	208062965	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CD34:NM_001773:exon5:c.C599T:p.A200V,CD34:NM_001025109:exon5:c.C599T:p.A200V,;ANNO=splicing:CD34
1	208207839	.	G	A	100	PASS	AC=13586;STUDIES=22;MAC=10652;MAF=0.439;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLXNA2:NM_025179:exon27:c.C4863T:p.Y1621Y,;ANNO=splicing:PLXNA2
1	208272313	.	A	C	100	PASS	AC=67;STUDIES=2;MAC=67;MAF=0.103;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=3;ANNO=nonsynonymous:PLXNA2:NM_025179:exon6:c.T1609G:p.C537G,;ANNO=splicing:PLXNA2
1	208315674	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLXNA2:NM_025179:exon4:c.G1506A:p.Q502Q,;ANNO=splicing:PLXNA2
1	209797344	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:LAMB3:NM_001017402:exon14:c.C1978T:p.R660X,LAMB3:NM_001127641:exon15:c.C1978T:p.R660X,LAMB3:NM_000228:exon15:c.C1978T:p.R660X,;ANNO=splicing:LAMB3
1	209823462	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LAMB3:NM_001017402:exon2:c.C30T:p.A10A,LAMB3:NM_001127641:exon3:c.C30T:p.A10A,LAMB3:NM_000228:exon3:c.C30T:p.A10A,;ANNO=splicing:LAMB3
1	209963840	.	C	T	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IRF6:NM_001206696:exon5:c.G775A:p.D259N,IRF6:NM_006147:exon7:c.G1060A:p.D354N,;ANNO=splicing:IRF6
1	209963841	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:IRF6:NM_001206696:exon5:c.C774T:p.S258S,IRF6:NM_006147:exon7:c.C1059T:p.S353S,;ANNO=splicing:IRF6
1	210273357	.	G	A	100	PASS	AC=42;STUDIES=6;MAC=42;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SYT14:NM_153262:exon6:c.G715A:p.D239N,SYT14:NM_001146262:exon6:c.G715A:p.D239N,SYT14:NM_001146261:exon7:c.G850A:p.D284N,SYT14:NM_001146264:exon7:c.G850A:p.D284N,;ANNO=splicing:SYT14
1	210414904	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SERTAD4:NM_019605:exon4:c.C293T:p.T98I,;ANNO=splicing:SERTAD4
1	210536197	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HHAT:NM_018194:exon3:c.A93C:p.E31D,HHAT:NM_001170580:exon3:c.A93C:p.E31D,HHAT:NM_001170564:exon3:c.A93C:p.E31D,HHAT:NM_001170588:exon3:c.A93C:p.E31D,HHAT:NM_001122834:exon3:c.A93C:p.E31D,HHAT:NM_001170587:exon2:c.A96C:p.E32D,;ANNO=splicing:HHAT
1	211542933	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRAF5:NM_004619:exon9:c.A929G:p.Q310R,TRAF5:NM_145759:exon9:c.A929G:p.Q310R,TRAF5:NM_001033910:exon9:c.A929G:p.Q310R,;ANNO=splicing:TRAF5
1	211842455	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=stopgain:NEK2:NM_002497:exon6:c.C985T:p.Q329X,NEK2:NM_001204182:exon6:c.C985T:p.Q329X,NEK2:NM_001204183:exon6:c.C985T:p.Q329X,;ANNO=splicing:NEK2
1	211847857	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:NEK2(NM_001204182:c.96-2A>G,NM_002497:c.96-2A>G,NM_001204183:c.96-2A>G)
1	212161344	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:INTS7:NM_001199809:exon7:c.C734T:p.A245V,INTS7:NM_001199812:exon8:c.C881T:p.A294V,INTS7:NM_001199811:exon8:c.C881T:p.A294V,INTS7:NM_015434:exon8:c.C881T:p.A294V,;ANNO=splicing:INTS7
1	212273593	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DTL(NM_016448:c.1261-1G>A)
1	212502477	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PPP2R5A:NM_001199756:exon2:c.A11G:p.N4S,PPP2R5A:NM_006243:exon2:c.A182G:p.D61G,;ANNO=splicing:PPP2R5A
1	212619173	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NENF:NM_013349:exon4:c.C344T:p.T115M,;ANNO=splicing:NENF
1	212985592	.	G	A	100	PASS	AC=640;STUDIES=22;MAC=640;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TATDN3:NM_001146171:exon9:c.G624A:p.K208K,TATDN3:NM_001042552:exon9:c.G603A:p.K201K,TATDN3:NM_001146170:exon8:c.G540A:p.K180K,TATDN3:NM_001146169:exon9:c.G624A:p.K208K,;ANNO=splicing:TATDN3(NM_001042553:c.600-1G>A)
1	214568242	.	C	T	100	PASS	AC=61;STUDIES=7;MAC=61;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PTPN14:NM_005401:exon9:c.G846A:p.T282T,;ANNO=splicing:PTPN14
1	214625316	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTPN14:NM_005401:exon3:c.C176T:p.T59M,;ANNO=splicing:PTPN14
1	214802390	.	A	G	100	PASS	AC=17;STUDIES=8;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CENPF:NM_016343:exon8:c.A1070G:p.Y357C,;ANNO=splicing:CENPF
1	215933187	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:USH2A(NM_206933:c.11047-2A>G)
1	216062396	.	T	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:USH2A:NM_206933:exon41:c.A7595C:p.K2532T,;ANNO=splicing:USH2A
1	216243634	.	G	C	100	PASS	AC=14;STUDIES=10;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:USH2A:NM_206933:exon30:c.C5858G:p.A1953G,;ANNO=splicing:USH2A
1	216741330	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ESRRG:NM_206595:exon5:c.T631A:p.Y211N,ESRRG:NM_206594:exon6:c.T631A:p.Y211N,ESRRG:NM_001134285:exon6:c.T631A:p.Y211N,ESRRG:NM_001438:exon4:c.T700A:p.Y234N,;ANNO=splicing:ESRRG
1	216824430	.	G	A	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ESRRG:NM_206595:exon4:c.C405T:p.G135G,ESRRG:NM_206594:exon5:c.C405T:p.G135G,ESRRG:NM_001134285:exon5:c.C405T:p.G135G,ESRRG:NM_001438:exon3:c.C474T:p.G158G,;ANNO=splicing:ESRRG
1	217804258	.	C	G	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPATCH2:NM_018040:exon1:c.G56C:p.W19S,;ANNO=splicing:GPATCH2
1	218478370	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RRP15:NM_016052:exon3:c.C406T:p.R136C,;ANNO=splicing:RRP15
1	218480973	.	A	G	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RRP15:NM_016052:exon4:c.A704G:p.Q235R,;ANNO=splicing:RRP15
1	220157548	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EPRS:NM_004446:exon21:c.G3090A:p.Q1030Q,;ANNO=splicing:EPRS
1	220275754	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IARS2:NM_018060:exon5:c.G749C:p.R250T,;ANNO=splicing:IARS2
1	220276789	.	G	A	100	PASS	AC=16;STUDIES=8;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:IARS2:NM_018060:exon8:c.G951A:p.K317K,;ANNO=splicing:IARS2
1	220379347	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RAB3GAP2:NM_012414:exon8:c.A614G:p.N205S,;ANNO=splicing:RAB3GAP2
1	220406141	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RAB3GAP2:NM_012414:exon2:c.T180A:p.P60P,;ANNO=splicing:RAB3GAP2
1	220978456	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MOSC1(NM_022746:c.815+1G>A)
1	222742851	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TAF1A(NM_001201536:c.894+1G>A,NM_139352:c.552+1G>A,NM_005681:c.894+1G>A)
1	223905532	.	G	A	100	PASS	AC=17339;STUDIES=22;MAC=6927;MAF=0.285;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CAPN2:NM_001748:exon2:c.G306A:p.L102L,CAPN2:NM_001146068:exon2:c.G72A:p.L24L,;ANNO=splicing:CAPN2
1	223940657	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CAPN2:NM_001748:exon9:c.G1134A:p.P378P,CAPN2:NM_001146068:exon9:c.G900A:p.P300P,;ANNO=splicing:CAPN2
1	224553693	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CNIH4:NM_014184:exon3:c.G251A:p.R84Q,;ANNO=splicing:CNIH4
1	224563498	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CNIH4:NM_014184:exon5:c.A394G:p.M132V,;ANNO=splicing:CNIH4
1	225155286	.	G	A	100	PASS	AC=34;STUDIES=8;MAC=34;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNAH14(NM_001145154:c.651+1G>A,NM_001373:c.651+1G>A,NM_144989:c.651+1G>A)
1	225155380	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNAH14(NM_144989:c.651-2A>G)
1	225328432	.	G	T	100	PASS	AC=88;STUDIES=3;MAC=88;MAF=0.039;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNAH14(NM_001373:c.4166-1G>T)
1	225380398	.	A	G	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAH14:NM_001373:exon37:c.A5605G:p.I1869V,;ANNO=splicing:DNAH14
1	226034913	.	G	A	100	PASS	AC=459;STUDIES=8;MAC=459;MAF=0.052;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:TMEM63A:NM_014698:exon24:c.C2252T:p.P751L,;ANNO=splicing:TMEM63A
1	226037614	.	C	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TMEM63A:NM_014698:exon21:c.G2070C:p.L690L,;ANNO=splicing:TMEM63A
1	226054381	.	T	G	100	PASS	AC=135;STUDIES=8;MAC=135;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMEM63A:NM_014698:exon9:c.A568C:p.N190H,;ANNO=splicing:TMEM63A
1	226180592	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C1orf55:NM_152608:exon3:c.C350T:p.A117V,;ANNO=splicing:C1orf55
1	226573206	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PARP1:NM_001618:exon7:c.A1010G:p.K337R,;ANNO=splicing:PARP1
1	226574028	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PARP1:NM_001618:exon6:c.C833T:p.A278V,;ANNO=splicing:PARP1
1	226785102	.	A	G	100	PASS	AC=107;STUDIES=2;MAC=107;MAF=0.047;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf95(NM_001003665:c.382-2A>G)
1	226827258	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ITPKB:NM_002221:exon6:c.G2553C:p.L851L,;ANNO=splicing:ITPKB
1	227165224	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADCK3:NM_020247:exon5:c.G730C:p.G244R,;ANNO=splicing:ADCK3
1	227171796	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADCK3:NM_020247:exon11:c.G1258A:p.D420N,;ANNO=splicing:ADCK3
1	227348245	.	G	A	100	PASS	AC=68;STUDIES=8;MAC=68;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CDC42BPA:NM_014826:exon6:c.C692T:p.T231M,CDC42BPA:NM_003607:exon6:c.C692T:p.T231M,;ANNO=splicing:CDC42BPA
1	228004911	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRSS38:NM_183062:exon3:c.G313A:p.D105N,;ANNO=splicing:PRSS38
1	228295369	.	C	T	100	PASS	AC=136;STUDIES=6;MAC=136;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MRPL55:NM_181441:exon3:c.G228A:p.A76A,MRPL55:NM_181456:exon4:c.G228A:p.A76A,MRPL55:NM_181462:exon5:c.G336A:p.A112A,MRPL55:NM_181464:exon4:c.G228A:p.A76A,MRPL55:NM_181463:exon4:c.G228A:p.A76A,MRPL55:NM_181454:exon5:c.G228A:p.A76A,MRPL55:NM_181465:exon3:c.G228A:p.A76A,MRPL55:NM_181455:exon5:c.G228A:p.A76A,;ANNO=splicing:MRPL55
1	228437667	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:OBSCN:NM_052843:exon14:c.G4035C:p.E1345D,OBSCN:NM_001098623:exon14:c.G4035C:p.E1345D,;ANNO=splicing:OBSCN
1	228462543	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:OBSCN(NM_052843:c.5953+1G>T,NM_001098623:c.5953+1G>T)
1	228467881	.	G	A	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:OBSCN:NM_052843:exon29:c.G7665A:p.A2555A,OBSCN:NM_001098623:exon29:c.G7665A:p.A2555A,;ANNO=splicing:OBSCN
1	228468496	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:OBSCN:NM_052843:exon30:c.C8196T:p.H2732H,OBSCN:NM_001098623:exon30:c.C8196T:p.H2732H,;ANNO=splicing:OBSCN
1	228476025	.	C	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OBSCN:NM_052843:exon37:c.C10075A:p.P3359T,OBSCN:NM_001098623:exon37:c.C10075A:p.P3359T,;ANNO=splicing:OBSCN
1	228481854	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:OBSCN:NM_052843:exon42:c.C11133T:p.A3711A,OBSCN:NM_001098623:exon42:c.C11133T:p.A3711A,;ANNO=splicing:OBSCN
1	228558725	.	G	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OBSCN:NM_001098623:exon94:c.G20246A:p.R6749H,;ANNO=splicing:OBSCN
1	228560783	.	G	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:OBSCN(NM_001098623:c.22303+1G>A)
1	228602816	.	T	C	100	PASS	AC=132;STUDIES=6;MAC=132;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRIM17
1	228613025	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HIST3H3:NM_003493:exon1:c.T2C:p.M1T,;ANNO=splicing:HIST3H3
1	228613026	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HIST3H3:NM_003493:exon1:c.A1G:p.M1V,;ANNO=splicing:HIST3H3
1	229462753	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C1orf96:NM_145257:exon3:c.C368T:p.A123V,;ANNO=splicing:C1orf96
1	229568304	.	G	T	100	PASS	AC=137;STUDIES=4;MAC=137;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ACTA1:NM_001100:exon3:c.C453A:p.T151T,;ANNO=splicing:ACTA1
1	229586352	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NUP133:NM_018230:exon23:c.C3100T:p.L1034L,;ANNO=splicing:NUP133
1	229588273	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NUP133:NM_018230:exon22:c.G3098A:p.G1033D,;ANNO=splicing:NUP133
1	229623359	.	G	A	100	PASS	AC=72;STUDIES=15;MAC=72;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NUP133:NM_018230:exon10:c.C1196T:p.S399F,;ANNO=splicing:NUP133
1	229643815	.	C	T	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NUP133:NM_018230:exon1:c.G182A:p.R61Q,;ANNO=splicing:NUP133
1	229667384	.	G	T	100	PASS	AC=54;STUDIES=7;MAC=54;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ABCB10:NM_012089:exon7:c.C1434A:p.N478K,;ANNO=splicing:ABCB10
1	229750089	.	T	C	100	PASS	AC=43;STUDIES=6;MAC=43;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TAF5L:NM_001025247:exon2:c.A141G:p.T47T,TAF5L:NM_014409:exon2:c.A141G:p.T47T,;ANNO=splicing:TAF5L
1	230381895	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GALNT2:NM_004481:exon8:c.C816T:p.G272G,;ANNO=splicing:GALNT2
1	230800231	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COG2:NM_007357:exon5:c.T383C:p.M128T,COG2:NM_001145036:exon5:c.T383C:p.M128T,;ANNO=splicing:COG2
1	230841680	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AGT:NM_000029:exon3:c.C1123T:p.R375W,;ANNO=splicing:AGT
1	230891082	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CAPN9(NM_006615:c.213-1G>A,NM_016452:c.213-1G>A)
1	230895257	.	G	C	100	PASS	AC=19;STUDIES=10;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CAPN9(NM_006615:c.283-1G>C,NM_016452:c.283-1G>C)
1	230898397	.	A	G	100	PASS	AC=148;STUDIES=10;MAC=148;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CAPN9(NM_006615:c.402-2A>G,NM_016452:c.402-2A>G)
1	230925937	.	T	G	100	PASS	AC=31;STUDIES=10;MAC=31;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CAPN9(NM_006615:c.1657+2T>G,NM_016452:c.1579+2T>G)
1	230927675	.	G	A	100	PASS	AC=20;STUDIES=4;MAC=20;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CAPN9(NM_006615:c.1722+1G>A,NM_016452:c.1644+1G>A)
1	230928594	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CAPN9(NM_006615:c.1791-2A>G,NM_016452:c.1713-2A>G)
1	230931025	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CAPN9:NM_016452:exon17:c.C1909T:p.R637W,CAPN9:NM_006615:exon18:c.C1987T:p.R663W,;ANNO=splicing:CAPN9
1	230931026	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CAPN9(NM_006615:c.1987+1G>A,NM_016452:c.1909+1G>A)
1	230979100	.	C	T	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C1orf198:NM_001136494:exon5:c.G813A:p.Q271Q,C1orf198:NM_001136495:exon3:c.G537A:p.Q179Q,C1orf198:NM_032800:exon3:c.G927A:p.Q309Q,;ANNO=splicing:C1orf198
1	231133014	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ARV1(NM_022786:c.820+1G>A)
1	231410968	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GNPAT:NM_014236:exon13:c.T1745A:p.I582K,;ANNO=splicing:GNPAT
1	231483670	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C1orf124:NM_001010984:exon3:c.C449T:p.T150M,C1orf124:NM_032018:exon3:c.C449T:p.T150M,;ANNO=splicing:C1orf124
1	233091465	.	G	A	100	PASS	AC=40;STUDIES=5;MAC=40;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:NTPCR:NM_032324:exon2:c.G197A:p.G66E,;ANNO=splicing:NTPCR
1	233297017	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PCNXL2:NM_014801:exon18:c.A3366C:p.R1122R,;ANNO=splicing:PCNXL2
1	233297018	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PCNXL2:NM_014801:exon18:c.G3365A:p.R1122Q,;ANNO=splicing:PCNXL2
1	233362973	.	G	T	100	PASS	AC=89;STUDIES=6;MAC=89;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PCNXL2:NM_014801:exon10:c.C2503A:p.R835R,;ANNO=splicing:PCNXL2
1	233363116	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PCNXL2:NM_014801:exon10:c.A2360G:p.H787R,;ANNO=splicing:PCNXL2
1	233372726	.	T	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PCNXL2:NM_014801:exon9:c.A2223T:p.R741R,;ANNO=splicing:PCNXL2
1	233397912	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:PCNXL2(NM_014801:c.359-1G>A)
1	233512273	.	G	A	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1804:NM_032435:exon8:c.G1924A:p.G642R,;ANNO=splicing:KIAA1804
1	234509586	.	G	A	100	PASS	AC=69;STUDIES=6;MAC=69;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C1orf31:NM_001012985:exon1:c.G122A:p.S41N,;ANNO=splicing:C1orf31
1	234582720	.	C	T	100	PASS	AC=605;STUDIES=21;MAC=605;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TARBP1:NM_005646:exon12:c.G1963A:p.G655R,;ANNO=splicing:TARBP1
1	234586175	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TARBP1:NM_005646:exon10:c.A1860G:p.E620E,;ANNO=splicing:TARBP1
1	234613920	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TARBP1:NM_005646:exon1:c.C930A:p.N310K,;ANNO=splicing:TARBP1
1	234744239	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IRF2BP2:NM_182972:exon1:c.C1002T:p.G334G,;ANNO=splicing:IRF2BP2(NM_001077397:c.1000+2C>T)
1	235392546	.	T	C	100	PASS	AC=10935;STUDIES=22;MAC=10935;MAF=0.451;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ARID4B:NM_001206794:exon11:c.A897G:p.E299E,ARID4B:NM_031371:exon11:c.A897G:p.E299E,ARID4B:NM_016374:exon11:c.A897G:p.E299E,;ANNO=splicing:ARID4B
1	235543465	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:TBCE(NM_001079515:c.100+1G>A,NM_003193:c.100+1G>A)
1	235564903	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TBCE(NM_001079515:c.185+1G>A,NM_003193:c.185+1G>A)
1	235599702	.	T	C	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TBCE:NM_001079515:exon10:c.T835C:p.L279L,TBCE:NM_003193:exon10:c.T835C:p.L279L,;ANNO=splicing:TBCE
1	235652575	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:B3GALNT2(NM_152490:c.260-2A>G)
1	235907279	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:LYST:NM_000081:exon30:c.T8151C:p.I2717I,;ANNO=splicing:LYST
1	235937290	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LYST:NM_000081:exon19:c.C5636A:p.T1879N,;ANNO=splicing:LYST
1	236142406	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:NID1:NM_002508:exon19:c.A3511G:p.N1171D,;ANNO=splicing:NID1
1	236154186	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NID1:NM_002508:exon14:c.G2928A:p.P976P,;ANNO=splicing:NID1
1	236195702	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NID1:NM_002508:exon6:c.C1536T:p.T512T,;ANNO=splicing:NID1
1	236557804	.	G	A	100	PASS	AC=608;STUDIES=22;MAC=608;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EDARADD:NM_145861:exon1:c.G60A:p.E20E,;ANNO=splicing:EDARADD
1	236706086	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LGALS8:NM_201544:exon7:c.T548C:p.L183P,LGALS8:NM_201543:exon8:c.T548C:p.L183P,LGALS8:NM_201545:exon8:c.T548C:p.L183P,LGALS8:NM_006499:exon8:c.T548C:p.L183P,;ANNO=splicing:LGALS8
1	236718052	.	T	A	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HEATR1:NM_018072:exon42:c.A5924T:p.D1975V,;ANNO=splicing:HEATR1
1	237620034	.	G	A	100	PASS	AC=468;STUDIES=11;MAC=468;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RYR2:NM_001035:exon16:c.G1611A:p.L537L,;ANNO=splicing:RYR2
1	238048069	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:ZP4:NM_021186:exon10:c.C1390T:p.R464X,;ANNO=splicing:ZP4
1	238048466	.	G	A	100	PASS	AC=109;STUDIES=10;MAC=109;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZP4:NM_021186:exon9:c.C1310T:p.P437L,;ANNO=splicing:ZP4
1	241886740	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR64(NM_144625:c.1164+2T>A)
1	241907817	.	T	C	100	PASS	AC=10996;STUDIES=19;MAC=9236;MAF=0.457;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:WDR64:NM_144625:exon12:c.T1563C:p.N521N,;ANNO=splicing:WDR64
1	241920761	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:WDR64:NM_144625:exon14:c.T1917C:p.D639D,;ANNO=splicing:WDR64
1	242012033	.	G	A	100	PASS	AC=1232;STUDIES=2;MAC=742;MAF=0.376;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:EXO1
1	242035334	.	C	A	100	PASS	AC=30;STUDIES=4;MAC=30;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EXO1:NM_130398:exon12:c.C1268A:p.A423E,EXO1:NM_003686:exon10:c.C1268A:p.A423E,EXO1:NM_006027:exon10:c.C1268A:p.A423E,;ANNO=splicing:EXO1
1	242048615	.	G	C	100	PASS	AC=41;STUDIES=11;MAC=41;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EXO1(NM_130398:c.2211-1G>C,NM_006027:c.2211-1G>C,NM_003686:c.2211-1G>C)
1	242162132	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MAP1LC3C:NM_001004343:exon2:c.A60C:p.A20A,;ANNO=splicing:MAP1LC3C
1	242383291	.	T	C	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLD5:NM_001195811:exon5:c.A548G:p.Q183R,PLD5:NM_001195812:exon4:c.A110G:p.Q37R,PLD5:NM_152666:exon6:c.A734G:p.Q245R,;ANNO=splicing:PLD5
1	242428640	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PLD5:NM_001195811:exon4:c.G420A:p.K140K,PLD5:NM_152666:exon5:c.G606A:p.K202K,;ANNO=splicing:PLD5
1	242687390	.	G	A	100	PASS	AC=1165;STUDIES=5;MAC=1165;MAF=0.352;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLD5:NM_152666:exon2:c.C189T:p.H63H,;ANNO=splicing:PLD5
1	244653748	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf101(NM_001130957:c.326-1G>C,NM_173807:c.326-1G>C)
1	245018909	.	G	A	100	PASS	AC=181;STUDIES=19;MAC=181;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:HNRNPU:NM_004501:exon12:c.C2112T:p.A704A,HNRNPU:NM_031844:exon12:c.C2169T:p.A723A,;ANNO=splicing:HNRNPU
1	245019207	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HNRNPU:NM_004501:exon11:c.A2109C:p.G703G,HNRNPU:NM_031844:exon11:c.A2166C:p.G722G,;ANNO=splicing:HNRNPU
1	245133746	.	G	A	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EFCAB2(NM_032328:c.25+1G>A,NM_001143943:c.25+1G>A)
1	245250548	.	T	C	100	PASS	AC=19;STUDIES=9;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EFCAB2:NM_032328:exon8:c.T375C:p.G125G,;ANNO=splicing:EFCAB2
1	246707823	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TFB2M:NM_022366:exon7:c.G1019A:p.R340H,;ANNO=splicing:TFB2M
1	246730090	.	G	C	100	PASS	AC=1915;STUDIES=3;MAC=53;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:CNST
1	246907377	.	G	C	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SCCPDH(NM_016002:c.514-1G>C)
1	247007232	.	T	A	100	PASS	AC=48;STUDIES=4;MAC=48;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:AHCTF1(NM_015446:c.6418-2A>T)
1	247014744	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AHCTF1:NM_015446:exon33:c.G4591A:p.V1531M,;ANNO=splicing:AHCTF1
1	247030545	.	C	A	100	PASS	AC=15;STUDIES=9;MAC=15;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:AHCTF1(NM_015446:c.3374+1G>T)
1	247151557	.	A	G	100	PASS	AC=11050;STUDIES=19;MAC=6064;MAF=0.354;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:ZNF695:NM_020394:exon4:c.T260C:p.V87A,ZNF695:NM_001204221:exon4:c.T260C:p.V87A,;ANNO=splicing:ZNF695
1	247201727	.	C	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF670:NM_033213:exon4:c.G194C:p.S65T,;ANNO=splicing:ZNF670(NM_001204220:c.191-1G>C)
1	247719769	.	G	A	100	PASS	AC=1225;STUDIES=18;MAC=1225;MAF=0.058;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1orf150(NM_145278:c.89+1G>A)
1	248084321	.	T	C	100	PASS	AC=42;STUDIES=6;MAC=42;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OR2T8:NM_001005522:exon1:c.T2C:p.M1T,;ANNO=splicing:OR2T8
1	248366370	.	A	G	100	PASS	AC=133;STUDIES=17;MAC=133;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OR2M3:NM_001004689:exon1:c.A1G:p.M1V,;ANNO=splicing:OR2M3
1	248458880	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:OR2T12:NM_001004692:exon1:c.A1G:p.M1V,;ANNO=splicing:OR2T12
1	249111082	.	T	C	100	PASS	AC=38;STUDIES=3;MAC=38;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:SH3BP5L:NM_030645:exon3:c.A185G:p.E62G,;ANNO=splicing:SH3BP5L
1	249150486	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF692(NM_001136036:c.674+1G>A,NM_017865:c.659+1G>A)
2	224919	.	A	G	100	PASS	AC=6528;STUDIES=20;MAC=6528;MAF=0.297;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SH3YL1:NM_015677:exon9:c.T783C:p.S261S,;ANNO=splicing:SH3YL1
2	230045	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SH3YL1(NM_001159597:c.702-1G>A,NM_015677:c.702-1G>A)
2	672863	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM18(NM_152834:c.178-1G>A)
2	1093883	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:SNTG2:NM_018968:exon3:c.G212A:p.R71H,;ANNO=nonsynonymous:SNTG2:NM_018968:exon3:c.G212T:p.R71L,;ANNO=splicing:SNTG2;ANNO=splicing:SNTG2
2	1093883	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:SNTG2:NM_018968:exon3:c.G212A:p.R71H,;ANNO=nonsynonymous:SNTG2:NM_018968:exon3:c.G212T:p.R71L,;ANNO=splicing:SNTG2;ANNO=splicing:SNTG2
2	1094096	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SNTG2:NM_018968:exon4:c.G325A:p.A109T,;ANNO=splicing:SNTG2
2	1204916	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SNTG2:NM_018968:exon9:c.G719T:p.R240M,;ANNO=splicing:SNTG2
2	1457595	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TPO:NM_001206744:exon6:c.G612A:p.P204P,TPO:NM_175721:exon5:c.G612A:p.P204P,TPO:NM_175719:exon6:c.G612A:p.P204P,TPO:NM_175722:exon5:c.G612A:p.P204P,TPO:NM_000547:exon6:c.G612A:p.P204P,TPO:NM_001206745:exon6:c.G612A:p.P204P,;ANNO=splicing:TPO
2	1488369	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TPO:NM_001206744:exon9:c.T1340C:p.I447T,TPO:NM_175721:exon8:c.T1340C:p.I447T,TPO:NM_175719:exon9:c.T1340C:p.I447T,TPO:NM_175722:exon7:c.T821C:p.I274T,TPO:NM_000547:exon9:c.T1340C:p.I447T,TPO:NM_001206745:exon9:c.T1340C:p.I447T,;ANNO=splicing:TPO
2	1544366	.	G	T	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TPO:NM_001206744:exon16:c.G2619T:p.W873C,TPO:NM_175721:exon14:c.G2487T:p.W829C,TPO:NM_175719:exon15:c.G2448T:p.W816C,TPO:NM_175722:exon14:c.G2100T:p.W700C,TPO:NM_000547:exon16:c.G2619T:p.W873C,TPO:NM_001206745:exon15:c.G2448T:p.W816C,;ANNO=splicing:TPO
2	1664654	.	A	G	100	PASS	AC=15327;STUDIES=19;MAC=5313;MAF=0.257;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:PXDN:NM_012293:exon14:c.T1836C:p.N612N,;ANNO=splicing:PXDN
2	1695771	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PXDN:NM_012293:exon3:c.G273A:p.L91L,;ANNO=splicing:PXDN
2	1893013	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYT1L:NM_015025:exon16:c.T2514C:p.T838T,;ANNO=splicing:MYT1L
2	3598061	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:RNASEH1:NM_002936:exon4:c.A411G:p.G137G,;ANNO=splicing:RNASEH1
2	7023664	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RSAD2(NM_080657:c.508+1G>T)
2	8931353	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KIDINS220:NM_020738:exon13:c.A1278G:p.R426R,;ANNO=splicing:KIDINS220
2	9002851	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MBOAT2:NM_138799:exon11:c.G1054C:p.V352L,;ANNO=splicing:MBOAT2
2	9621416	.	T	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IAH1:NM_001039613:exon4:c.T285A:p.D95E,;ANNO=splicing:IAH1
2	9676956	.	G	C	100	PASS	AC=45;STUDIES=8;MAC=45;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADAM17:NM_003183:exon3:c.C232G:p.H78D,;ANNO=splicing:ADAM17
2	10015994	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TAF1B:NM_005680:exon7:c.A554G:p.E185G,;ANNO=splicing:TAF1B
2	10132274	.	T	C	100	PASS	AC=31;STUDIES=7;MAC=31;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GRHL1:NM_198182:exon11:c.T1461C:p.H487H,;ANNO=splicing:GRHL1
2	10282081	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C2orf48:NM_182626:exon1:c.T72A:p.S24S,;ANNO=splicing:C2orf48
2	11312170	.	A	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PQLC3:NM_152391:exon5:c.A474C:p.A158A,;ANNO=splicing:PQLC3
2	11315092	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PQLC3(NM_152391:c.475-2A>G)
2	11716477	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GREB1(NM_014668:c.454-2A>C,NM_148903:c.454-2A>C,NM_033090:c.454-2A>C)
2	11727507	.	G	A	100	PASS	AC=11420;STUDIES=17;MAC=8962;MAF=0.440;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GREB1(NM_148903:c.1159-1G>A)
2	11756845	.	C	T	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GREB1:NM_014668:exon21:c.C3411T:p.S1137S,;ANNO=splicing:GREB1
2	11767089	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GREB1:NM_014668:exon25:c.C4308G:p.D1436E,;ANNO=splicing:GREB1
2	15607786	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NBAS(NM_015909:c.2018+2T>C)
2	15769725	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DDX1(NM_004939:c.1875-1G>A)
2	16740728	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FAM49A:NM_030797:exon10:c.T837C:p.D279D,;ANNO=splicing:FAM49A
2	17876420	.	T	G	100	PASS	AC=39;STUDIES=13;MAC=39;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SMC6:NM_001142286:exon23:c.A2677C:p.R893R,SMC6:NM_024624:exon22:c.A2677C:p.R893R,;ANNO=splicing:SMC6
2	18764135	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NT5C1B:NM_033253:exon6:c.C1020T:p.Y340Y,NT5C1B-RDH14:NM_001199104:exon7:c.C1200T:p.Y400Y,NT5C1B:NM_001199088:exon7:c.C1206T:p.Y402Y,NT5C1B:NM_001199086:exon7:c.C1149T:p.Y383Y,NT5C1B:NM_001002006:exon7:c.C1200T:p.Y400Y,NT5C1B-RDH14:NM_001199103:exon6:c.C1026T:p.Y342Y,NT5C1B:NM_001199087:exon7:c.C1251T:p.Y417Y,;ANNO=splicing:NT5C1B,NT5C1B-RDH14
2	20097629	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTC32(NM_001008237:c.316+1G>T)
2	20135366	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR35(NM_020779:c.2414-2A>G,NM_001006657:c.2447-2A>G)
2	20137706	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WDR35:NM_001006657:exon20:c.C2098T:p.R700C,WDR35:NM_020779:exon19:c.C2065T:p.R689C,;ANNO=splicing:WDR35
2	20162057	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDR35:NM_001006657:exon11:c.C1226T:p.T409M,;ANNO=splicing:WDR35
2	20178641	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR35(NM_020779:c.307-1G>A,NM_001006657:c.307-1G>A)
2	20203046	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MATN3:NM_002381:exon3:c.G792A:p.A264A,;ANNO=splicing:MATN3
2	20974570	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C2orf43:NM_021925:exon4:c.G468A:p.P156P,;ANNO=splicing:C2orf43
2	20974571	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C2orf43:NM_021925:exon4:c.C467T:p.P156L,;ANNO=splicing:C2orf43
2	21236405	.	G	A	100	PASS	AC=27;STUDIES=6;MAC=27;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:APOB:NM_000384:exon25:c.C3843T:p.S1281S,;ANNO=splicing:APOB
2	21238243	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:APOB:NM_000384:exon22:c.T3507C:p.Y1169Y,;ANNO=splicing:APOB
2	21251199	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:APOB:NM_000384:exon13:c.A1829G:p.D610G,;ANNO=splicing:APOB
2	21260127	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:APOB:NM_000384:exon6:c.G538T:p.D180Y,;ANNO=splicing:APOB
2	23914544	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KLHL29:NM_052920:exon7:c.G1080A:p.R360R,;ANNO=splicing:KLHL29
2	24194283	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UBXN2A:NM_181713:exon3:c.A179G:p.Q60R,;ANNO=splicing:UBXN2A
2	24344170	.	C	A	100	PASS	AC=39;STUDIES=7;MAC=39;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PFN4:NM_199346:exon3:c.G118T:p.V40L,;ANNO=splicing:PFN4
2	24400738	.	A	G	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C2orf84:NM_001040710:exon3:c.A161G:p.K54R,;ANNO=splicing:C2orf84
2	24427113	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITSN2(NM_019595:c.4855+1G>A,NM_006277:c.4936+1G>A)
2	24432688	.	G	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITSN2:NM_019595:exon34:c.C4391T:p.T1464M,ITSN2:NM_006277:exon35:c.C4472T:p.T1491M,;ANNO=splicing:ITSN2
2	24435520	.	C	G	100	PASS	AC=25;STUDIES=4;MAC=25;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITSN2:NM_019595:exon32:c.G4007C:p.S1336T,ITSN2:NM_006277:exon33:c.G4088C:p.S1363T,;ANNO=splicing:ITSN2
2	24494634	.	C	T	100	PASS	AC=50;STUDIES=10;MAC=50;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITSN2(NM_019595:c.2176+1G>A,NM_006277:c.2257+1G>A,NM_147152:c.2257+1G>A)
2	24962301	.	T	C	100	PASS	AC=74;STUDIES=8;MAC=74;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NCOA1:NM_003743:exon16:c.T3202C:p.L1068L,NCOA1:NM_147233:exon16:c.T3202C:p.L1068L,NCOA1:NM_147223:exon16:c.T3202C:p.L1068L,;ANNO=splicing:NCOA1
2	24985556	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NCOA1:NM_003743:exon20:c.A4066C:p.I1356L,NCOA1:NM_147233:exon20:c.A4066C:p.I1356L,NCOA1:NM_147223:exon20:c.A4066C:p.I1356L,;ANNO=splicing:NCOA1
2	25022713	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CENPO:NM_001199803:exon2:c.C198T:p.S66S,CENPO:NM_024322:exon3:c.C216T:p.S72S,;ANNO=splicing:CENPO
2	25039516	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CENPO:NM_001199803:exon5:c.G578A:p.S193N,CENPO:NM_024322:exon6:c.G596A:p.S199N,;ANNO=splicing:CENPO
2	25054532	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADCY3:NM_004036:exon11:c.G2054A:p.R685Q,;ANNO=splicing:ADCY3
2	25061315	.	G	A	100	PASS	AC=16;STUDIES=9;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADCY3:NM_004036:exon7:c.C1532T:p.S511L,;ANNO=splicing:ADCY3
2	25179912	.	C	T	100	PASS	AC=14;STUDIES=8;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DNAJC27:NM_001198559:exon5:c.G528A:p.Q176Q,DNAJC27:NM_016544:exon5:c.G528A:p.Q176Q,;ANNO=splicing:DNAJC27
2	25472526	.	C	T	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DNMT3A:NM_153759:exon2:c.G72A:p.T24T,;ANNO=splicing:DNMT3A
2	25678274	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DTNB:NM_183360:exon11:c.G1169A:p.R390H,DTNB:NM_021907:exon11:c.G1169A:p.R390H,DTNB:NM_033147:exon11:c.G1169A:p.R390H,;ANNO=splicing:DTNB
2	25678275	.	G	A	100	PASS	AC=18;STUDIES=9;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DTNB:NM_183360:exon11:c.C1168T:p.R390C,DTNB:NM_021907:exon11:c.C1168T:p.R390C,DTNB:NM_033147:exon11:c.C1168T:p.R390C,;ANNO=splicing:DTNB
2	25754343	.	C	T	100	PASS	AC=35;STUDIES=13;MAC=35;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DTNB:NM_183360:exon9:c.G1000A:p.V334I,DTNB:NM_021907:exon9:c.G1000A:p.V334I,DTNB:NM_033147:exon9:c.G1000A:p.V334I,DTNB:NM_183361:exon9:c.G1000A:p.V334I,DTNB:NM_033148:exon9:c.G1000A:p.V334I,;ANNO=splicing:DTNB
2	25819108	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DTNB:NM_183360:exon6:c.T450C:p.Y150Y,DTNB:NM_021907:exon6:c.T450C:p.Y150Y,DTNB:NM_033147:exon6:c.T450C:p.Y150Y,DTNB:NM_183361:exon6:c.T450C:p.Y150Y,DTNB:NM_033148:exon6:c.T450C:p.Y150Y,;ANNO=splicing:DTNB
2	26174659	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIF3C:NM_002254:exon5:c.G2005A:p.V669I,;ANNO=splicing:KIF3C
2	26399214	.	G	A	100	PASS	AC=5605;STUDIES=9;MAC=2189;MAF=0.281;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FAM59B:NM_001168241:exon2:c.G114A:p.G38G,;ANNO=splicing:FAM59B
2	26424019	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HADHA:NM_000182:exon13:c.C1391T:p.A464V,;ANNO=splicing:HADHA
2	26435497	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HADHA(NM_000182:c.918-2A>G)
2	26457222	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:HADHA:NM_000182:exon5:c.A316G:p.M106V,;ANNO=splicing:HADHA
2	26507071	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:HADHB:NM_000183:exon13:c.C1148T:p.S383L,;ANNO=splicing:HADHB
2	26532973	.	T	C	100	PASS	AC=257;STUDIES=10;MAC=257;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPR113:NM_001145169:exon12:c.A2872G:p.I958V,GPR113:NM_001145168:exon13:c.A3079G:p.I1027V,GPR113:NM_153835:exon10:c.A2482G:p.I828V,;ANNO=splicing:GPR113
2	26534941	.	T	C	100	PASS	AC=56;STUDIES=3;MAC=56;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPR113:NM_001145169:exon10:c.A1448G:p.N483S,GPR113:NM_001145168:exon11:c.A1655G:p.N552S,GPR113:NM_153835:exon8:c.A1058G:p.N353S,;ANNO=splicing:GPR113
2	26536629	.	C	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPR113:NM_001145169:exon7:c.G1068C:p.Q356H,GPR113:NM_001145168:exon8:c.G1275C:p.Q425H,GPR113:NM_153835:exon5:c.G678C:p.Q226H,;ANNO=splicing:GPR113
2	26587700	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EPT1:NM_033505:exon3:c.G127A:p.V43I,;ANNO=splicing:EPT1
2	26671671	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CCDC164:NM_145038:exon11:c.G1509A:p.S503S,;ANNO=splicing:CCDC164
2	26687738	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:OTOF:NM_194323:exon22:c.C2658T:p.N886N,OTOF:NM_194248:exon39:c.C4959T:p.N1653N,OTOF:NM_004802:exon22:c.C2658T:p.N886N,OTOF:NM_194322:exon21:c.C2889T:p.N963N,;ANNO=splicing:OTOF
2	26690369	.	C	A	100	PASS	AC=21;STUDIES=5;MAC=21;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OTOF:NM_194323:exon17:c.G1790T:p.G597V,OTOF:NM_194248:exon34:c.G4091T:p.G1364V,OTOF:NM_004802:exon17:c.G1790T:p.G597V,OTOF:NM_194322:exon16:c.G2021T:p.G674V,;ANNO=splicing:OTOF
2	26693460	.	C	T	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:OTOF(NM_004802:c.1722+1G>A,NM_194248:c.4023+1G>A,NM_194323:c.1722+1G>A,NM_194322:c.1953+1G>A)
2	26700373	.	G	A	100	PASS	AC=290;STUDIES=18;MAC=290;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OTOF:NM_194323:exon3:c.C76T:p.R26C,OTOF:NM_194248:exon20:c.C2317T:p.R773C,OTOF:NM_004802:exon3:c.C76T:p.R26C,OTOF:NM_194322:exon2:c.C247T:p.R83C,;ANNO=splicing:OTOF
2	26712546	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:OTOF:NM_194248:exon10:c.G960A:p.S320S,;ANNO=splicing:OTOF
2	26726714	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:OTOF(NM_194248:c.509-1G>A)
2	26798771	.	T	G	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.033;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C2orf70:NM_001105519:exon2:c.T76G:p.Y26D,;ANNO=splicing:C2orf70
2	26818042	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CIB4(NM_001029881:c.328+2T>C)
2	27277499	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AGBL5:NM_001035507:exon5:c.C553T:p.P185S,AGBL5:NM_021831:exon5:c.C553T:p.P185S,;ANNO=splicing:AGBL5
2	27282058	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AGBL5:NM_001035507:exon11:c.T1875C:p.N625N,AGBL5:NM_021831:exon11:c.T1875C:p.N625N,;ANNO=splicing:AGBL5
2	27324965	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:CGREF1:NM_001166241:exon4:c.G54C:p.P18P,CGREF1:NM_001166239:exon5:c.G342C:p.P114P,CGREF1:NM_006569:exon5:c.G342C:p.P114P,CGREF1:NM_001166240:exon5:c.G342C:p.P114P,;ANNO=synonymous:CGREF1:NM_001166241:exon4:c.G54A:p.P18P,CGREF1:NM_001166239:exon5:c.G342A:p.P114P,CGREF1:NM_006569:exon5:c.G342A:p.P114P,CGREF1:NM_001166240:exon5:c.G342A:p.P114P,;ANNO=splicing:CGREF1;ANNO=splicing:CGREF1
2	27325227	.	C	G	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CGREF1(NM_001166240:c.217+1G>C,NM_001166239:c.217+1G>C,NM_006569:c.217+1G>C)
2	27352230	.	G	C	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABHD1(NM_032604:c.504+1G>C)
2	27352794	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:ABHD1:NM_032604:exon6:c.C790T:p.R264X,;ANNO=splicing:ABHD1
2	27352795	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:ABHD1:NM_032604:exon6:c.G791A:p.R264Q,;ANNO=nonsynonymous:ABHD1:NM_032604:exon6:c.G791T:p.R264L,;ANNO=splicing:ABHD1;ANNO=splicing:ABHD1
2	27353120	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABHD1:NM_032604:exon8:c.C842T:p.A281V,;ANNO=splicing:ABHD1
2	27354540	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PREB:NM_013388:exon8:c.C1159T:p.R387W,;ANNO=splicing:PREB
2	27355472	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PREB:NM_013388:exon5:c.A751C:p.R251R,;ANNO=splicing:PREB
2	27465294	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CAD:NM_004341:exon40:c.C6221T:p.T2074M,;ANNO=splicing:CAD
2	27466285	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CAD:NM_004341:exon44:c.G6577A:p.V2193M,;ANNO=splicing:CAD
2	27479255	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:SLC30A3:NM_003459:exon7:c.C1017T:p.I339I,;ANNO=synonymous:SLC30A3:NM_003459:exon7:c.C1017A:p.I339I,;ANNO=splicing:SLC30A3;ANNO=splicing:SLC30A3
2	27481622	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC30A3:NM_003459:exon2:c.C276T:p.V92V,;ANNO=splicing:SLC30A3
2	27534765	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MPV17(NM_002437:c.461+2T>C)
2	27535859	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MPV17(NM_002437:c.186+2T>C)
2	27592744	.	C	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EIF2B4:NM_015636:exon2:c.G74T:p.G25V,EIF2B4:NM_001034116:exon2:c.G74T:p.G25V,EIF2B4:NM_172195:exon1:c.G137T:p.G46V,;ANNO=splicing:EIF2B4
2	27662764	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NRBP1:NM_013392:exon11:c.A1035G:p.Q345Q,;ANNO=splicing:NRBP1
2	27664047	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NRBP1:NM_013392:exon15:c.C1383T:p.H461H,;ANNO=splicing:NRBP1
2	27668163	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IFT172:NM_015662:exon46:c.G5068C:p.G1690R,;ANNO=splicing:IFT172
2	27693796	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IFT172:NM_015662:exon16:c.G1691A:p.R564K,;ANNO=splicing:IFT172
2	27695118	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IFT172:NM_015662:exon15:c.G1523A:p.R508H,;ANNO=splicing:IFT172
2	27721190	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=synonymous:GCKR:NM_001486:exon4:c.G354A:p.S118S,;ANNO=synonymous:GCKR:NM_001486:exon4:c.G354T:p.S118S,;ANNO=splicing:GCKR;ANNO=splicing:GCKR
2	27722316	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GCKR:NM_001486:exon7:c.C548T:p.S183F,;ANNO=splicing:GCKR
2	27730940	.	T	C	100	PASS	AC=14829;STUDIES=21;MAC=8745;MAF=0.371;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:GCKR:NM_001486:exon15:c.T1337C:p.L446P,;ANNO=splicing:GCKR
2	27745327	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GCKR:NM_001486:exon18:c.C1573T:p.R525W,;ANNO=splicing:GCKR
2	27883851	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SUPT7L:NM_014860:exon3:c.G419A:p.R140H,;ANNO=splicing:SUPT7L
2	28081439	.	C	G	100	PASS	AC=146;STUDIES=16;MAC=146;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RBKS(NM_022128:c.89-1G>C)
2	28532947	.	A	C	100	PASS	AC=61;STUDIES=14;MAC=61;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BRE(NM_199193:c.1088-2A>C,NM_199192:c.1088-2A>C)
2	28752593	.	A	G	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLB1(NM_153021:c.416-2A>G,NM_001170585:c.416-2A>G)
2	28764572	.	A	C	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLB1(NM_153021:c.774-2A>C,NM_001170585:c.807-2A>C)
2	28764678	.	G	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLB1:NM_001170585:exon13:c.G912A:p.S304S,PLB1:NM_153021:exon13:c.G879A:p.S293S,;ANNO=splicing:PLB1
2	28766134	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLB1:NM_001170585:exon14:c.T968C:p.M323T,PLB1:NM_153021:exon14:c.T935C:p.M312T,;ANNO=splicing:PLB1
2	28785966	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PLB1:NM_001170585:exon18:c.G1239A:p.T413T,PLB1:NM_153021:exon18:c.G1206A:p.T402T,;ANNO=splicing:PLB1
2	28796065	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PLB1:NM_001170585:exon21:c.C1359T:p.N453N,PLB1:NM_153021:exon21:c.C1326T:p.N442N,;ANNO=splicing:PLB1
2	28808628	.	G	A	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLB1:NM_001170585:exon25:c.G1701A:p.R567R,PLB1:NM_153021:exon26:c.G1734A:p.R578R,;ANNO=splicing:PLB1
2	28815586	.	C	T	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLB1:NM_001170585:exon31:c.C2214T:p.T738T,PLB1:NM_153021:exon32:c.C2247T:p.T749T,;ANNO=splicing:PLB1
2	28815588	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLB1(NM_153021:c.2247+2T>G,NM_001170585:c.2214+2T>G)
2	28824199	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLB1:NM_001170585:exon36:c.G2574A:p.S858S,PLB1:NM_153021:exon37:c.G2607A:p.S869S,;ANNO=splicing:PLB1
2	28826915	.	G	A	100	PASS	AC=20;STUDIES=10;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLB1(NM_153021:c.2856+1G>A,NM_001170585:c.2823+1G>A)
2	28827625	.	C	T	100	PASS	AC=2022;STUDIES=21;MAC=2022;MAF=0.086;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLB1:NM_001170585:exon40:c.C2927T:p.A976V,PLB1:NM_153021:exon41:c.C2960T:p.A987V,;ANNO=splicing:PLB1
2	28847976	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLB1(NM_153021:c.3579+1G>A,NM_001170585:c.3546+1G>A)
2	28849375	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PLB1:NM_001170585:exon50:c.G3627A:p.P1209P,PLB1:NM_153021:exon51:c.G3660A:p.P1220P,;ANNO=splicing:PLB1
2	29450537	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ALK:NM_004304:exon17:c.C2817T:p.G939G,;ANNO=splicing:ALK
2	30998797	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CAPN13:NM_144575:exon4:c.G386A:p.R129Q,;ANNO=splicing:CAPN13
2	31411184	.	C	A	100	PASS	AC=1719;STUDIES=8;MAC=1719;MAF=0.215;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CAPN14:NM_001145122:exon14:c.G1530T:p.K510N,;ANNO=splicing:CAPN14
2	31472237	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EHD3:NM_014600:exon3:c.G405A:p.R135R,;ANNO=splicing:EHD3
2	31483377	.	G	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EHD3:NM_014600:exon4:c.G504T:p.G168G,;ANNO=splicing:EHD3
2	31596738	.	C	G	100	PASS	AC=16;STUDIES=7;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:XDH(NM_000379:c.1686+1G>C)
2	31598246	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:XDH:NM_000379:exon15:c.C1602T:p.D534D,;ANNO=splicing:XDH
2	31602841	.	G	A	100	PASS	AC=241;STUDIES=10;MAC=241;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:XDH:NM_000379:exon13:c.C1134T:p.G378G,;ANNO=splicing:XDH
2	31605868	.	G	A	100	PASS	AC=41;STUDIES=8;MAC=41;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:XDH:NM_000379:exon11:c.C1037T:p.A346V,;ANNO=splicing:XDH
2	32474677	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NLRC4:NM_021209:exon4:c.G2256A:p.P752P,NLRC4:NM_001199138:exon4:c.G2256A:p.P752P,NLRC4:NM_001199139:exon4:c.G2256A:p.P752P,;ANNO=splicing:NLRC4
2	32667393	.	T	C	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BIRC6:NM_016252:exon19:c.T4108C:p.S1370P,;ANNO=splicing:BIRC6
2	32707650	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BIRC6:NM_016252:exon39:c.G7696A:p.A2566T,;ANNO=splicing:BIRC6
2	32961762	.	G	A	100	PASS	AC=10;STUDIES=8;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TTC27:NM_001193509:exon12:c.G1181A:p.R394H,TTC27:NM_017735:exon12:c.G1331A:p.R444H,;ANNO=splicing:TTC27
2	33012052	.	G	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TTC27:NM_001193509:exon16:c.G1684A:p.V562I,TTC27:NM_017735:exon16:c.G1834A:p.V612I,;ANNO=splicing:TTC27
2	33335818	.	C	T	100	PASS	AC=844;STUDIES=19;MAC=844;MAF=0.039;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LTBP1:NM_206943:exon4:c.C1033T:p.L345L,;ANNO=splicing:LTBP1
2	33484655	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LTBP1:NM_000627:exon9:c.T1418G:p.V473G,LTBP1:NM_001166266:exon9:c.T1259G:p.V420G,LTBP1:NM_001166264:exon9:c.T1418G:p.V473G,LTBP1:NM_001166265:exon9:c.T1259G:p.V420G,LTBP1:NM_206943:exon13:c.T2396G:p.V799G,;ANNO=splicing:LTBP1
2	33741609	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RASGRP3:NM_170672:exon5:c.A71G:p.D24G,RASGRP3:NM_001139488:exon4:c.A71G:p.D24G,RASGRP3:NM_015376:exon3:c.A71G:p.D24G,;ANNO=splicing:RASGRP3
2	37002210	.	G	C	100	PASS	AC=19;STUDIES=9;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VIT:NM_001177969:exon9:c.G802C:p.G268R,VIT:NM_053276:exon9:c.G802C:p.G268R,VIT:NM_001177970:exon9:c.G802C:p.D268H,;ANNO=splicing:VIT
2	37256063	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HEATR5B:NM_019024:exon23:c.A3362G:p.N1121S,;ANNO=splicing:HEATR5B
2	37284622	.	T	A	100	PASS	AC=19;STUDIES=9;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HEATR5B:NM_019024:exon15:c.A2061T:p.G687G,;ANNO=splicing:HEATR5B
2	37295825	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HEATR5B:NM_019024:exon8:c.A1176G:p.V392V,;ANNO=splicing:HEATR5B
2	37315583	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCDC75:NM_174931:exon2:c.A47G:p.Q16R,;ANNO=splicing:CCDC75
2	38179345	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM82A1(NM_144713:c.986+1G>A)
2	38201357	.	G	A	100	PASS	AC=54;STUDIES=3;MAC=54;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FAM82A1:NM_001170793:exon2:c.G192A:p.K64K,FAM82A1:NM_001170792:exon3:c.G627A:p.K209K,FAM82A1:NM_001170791:exon3:c.G627A:p.K209K,FAM82A1:NM_144713:exon3:c.G1161A:p.K387K,;ANNO=splicing:FAM82A1
2	38795342	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HNRPLL:NM_138394:exon12:c.G1572A:p.P524P,HNRPLL:NM_001142650:exon13:c.G1557A:p.P519P,;ANNO=splicing:HNRPLL
2	38809311	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HNRPLL(NM_138394:c.632-1T>G,NM_001142650:c.617-1T>G)
2	38830000	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HNRPLL:NM_001142650:exon1:c.C10T:p.R4W,;ANNO=splicing:HNRPLL
2	38917036	.	G	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:GALM:NM_138801:exon4:c.G634T:p.G212X,;ANNO=splicing:GALM
2	38972328	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SRSF7:NM_001031684:exon8:c.C664T:p.R222C,SRSF7:NM_001195446:exon7:c.C628T:p.R210C,;ANNO=splicing:SRSF7
2	39050135	.	A	T	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DHX57:NM_198963:exon17:c.T3291A:p.F1097L,;ANNO=splicing:DHX57
2	39164699	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGEF33:NM_001145451:exon7:c.T789C:p.A263A,;ANNO=splicing:ARHGEF33
2	39216456	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SOS1(NM_005633:c.3346-1G>A)
2	39224178	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SOS1:NM_005633:exon19:c.G2966A:p.R989K,;ANNO=splicing:SOS1
2	39406462	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CDKL4:NM_001009565:exon8:c.G793C:p.G265R,;ANNO=splicing:CDKL4
2	39481660	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MAP4K3:NM_003618:exon32:c.G2472A:p.V824V,;ANNO=splicing:MAP4K3
2	39492446	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MAP4K3:NM_003618:exon28:c.A2034C:p.V678V,;ANNO=splicing:MAP4K3
2	39499683	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MAP4K3:NM_003618:exon25:c.C1795T:p.L599L,;ANNO=splicing:MAP4K3
2	39517475	.	G	C	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MAP4K3:NM_003618:exon19:c.C1272G:p.H424Q,;ANNO=splicing:MAP4K3
2	39988471	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:THUMPD2:NM_025264:exon6:c.G891C:p.K297N,;ANNO=splicing:THUMPD2
2	39993198	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:THUMPD2:NM_025264:exon5:c.A802G:p.R268G,;ANNO=splicing:THUMPD2
2	39995563	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:THUMPD2(NM_025264:c.750+1G>T)
2	40392123	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=synonymous:SLC8A1:NM_001112800:exon6:c.C2025T:p.D675D,SLC8A1:NM_001112801:exon5:c.C2001T:p.D667D,SLC8A1:NM_021097:exon7:c.C2040T:p.D680D,SLC8A1:NM_001112802:exon5:c.C1932T:p.D644D,;ANNO=nonsynonymous:SLC8A1:NM_001112800:exon6:c.C2025A:p.D675E,SLC8A1:NM_001112801:exon5:c.C2001A:p.D667E,SLC8A1:NM_021097:exon7:c.C2040A:p.D680E,SLC8A1:NM_001112802:exon5:c.C1932A:p.D644E,;ANNO=splicing:SLC8A1;ANNO=splicing:SLC8A1
2	43625278	.	C	A	100	PASS	AC=106;STUDIES=18;MAC=106;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:THADA:NM_001083953:exon29:c.G4059T:p.R1353S,THADA:NM_022065:exon29:c.G4059T:p.R1353S,;ANNO=splicing:THADA
2	44023025	.	G	A	100	PASS	AC=28;STUDIES=9;MAC=28;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DYNC2LI1(NM_001193464:c.507-1G>A)
2	44066254	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCG8:NM_022437:exon1:c.C62T:p.S21L,;ANNO=splicing:ABCG8
2	44132918	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRPPRC:NM_133259:exon31:c.G3277A:p.A1093T,;ANNO=splicing:LRPPRC
2	44176742	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LRPPRC:NM_133259:exon16:c.G1734A:p.T578T,;ANNO=splicing:LRPPRC
2	44176798	.	T	A	100	PASS	AC=19;STUDIES=8;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRPPRC:NM_133259:exon16:c.A1678T:p.I560L,;ANNO=splicing:LRPPRC
2	44209572	.	C	G	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRPPRC:NM_133259:exon2:c.G151C:p.G51R,;ANNO=splicing:LRPPRC
2	44539891	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC3A1:NM_000341:exon8:c.T1499C:p.I500T,;ANNO=splicing:SLC3A1
2	44549869	.	C	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PREPL(NM_001042386:c.1822+1G>T,NM_006036:c.2020+1G>T,NM_001171606:c.2020+1G>T,NM_001171603:c.2020+1G>T,NM_001042385:c.1834+1G>T,NM_001171613:c.1753+1G>T,NM_001171617:c.1753+1G>T)
2	44586636	.	C	A	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PREPL:NM_001042385:exon1:c.G219T:p.K73N,PREPL:NM_001171606:exon2:c.G219T:p.K73N,PREPL:NM_001171603:exon2:c.G219T:p.K73N,PREPL:NM_001042386:exon1:c.G219T:p.K73N,PREPL:NM_006036:exon1:c.G219T:p.K73N,;ANNO=splicing:PREPL
2	44934538	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CAMKMT:NM_024766:exon6:c.G493T:p.V165F,;ANNO=splicing:CAMKMT
2	46608860	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EPAS1:NM_001430:exon13:c.G2171A:p.G724E,;ANNO=splicing:EPAS1
2	47177664	.	C	T	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TTC7A:NM_020458:exon2:c.C347T:p.S116L,;ANNO=splicing:TTC7A
2	47251427	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TTC7A:NM_020458:exon14:c.G1570T:p.A524S,;ANNO=splicing:TTC7A
2	47604154	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EPCAM:NM_002354:exon5:c.G493A:p.A165T,;ANNO=splicing:EPCAM
2	47607108	.	G	A	100	PASS	AC=33;STUDIES=3;MAC=33;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:EPCAM:NM_002354:exon7:c.G858A:p.L286L,;ANNO=splicing:EPCAM
2	47657079	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MSH2:NM_000251:exon7:c.A1275G:p.E425E,;ANNO=splicing:MSH2
2	48033496	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MSH6:NM_000179:exon8:c.T3800C:p.M1267T,;ANNO=splicing:MSH6
2	48718158	.	T	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KLRAQ1:NM_001135629:exon15:c.T1448G:p.I483S,KLRAQ1:NM_001193475:exon15:c.T1448G:p.I483S,KLRAQ1:NM_152994:exon15:c.T1448G:p.I483S,;ANNO=splicing:KLRAQ1
2	49195836	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FSHR(NM_181446:c.776+1G>A,NM_000145:c.854+1G>A)
2	50318462	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NRXN1:NM_138735:exon3:c.A612T:p.A204A,NRXN1:NM_001135659:exon20:c.A3837T:p.A1279A,NRXN1:NM_004801:exon19:c.A3717T:p.A1239A,;ANNO=splicing:NRXN1
2	53943880	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ASB3:NM_001201965:exon5:c.G386A:p.G129D,ASB3:NM_016115:exon6:c.G605A:p.G202D,GPR75-ASB3:NM_001164165:exon6:c.G719A:p.G240D,ASB3:NM_145863:exon5:c.G386A:p.G129D,;ANNO=splicing:ASB3,GPR75-ASB3
2	53955850	.	C	T	100	PASS	AC=4068;STUDIES=21;MAC=4068;MAF=0.173;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ASB3:NM_001201965:exon4:c.G384A:p.S128S,ASB3:NM_016115:exon5:c.G603A:p.S201S,GPR75-ASB3:NM_001164165:exon5:c.G717A:p.S239S,ASB3:NM_145863:exon4:c.G384A:p.S128S,;ANNO=splicing:ASB3,GPR75-ASB3
2	53994929	.	G	A	100	PASS	AC=198;STUDIES=3;MAC=198;MAF=0.097;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:CHAC2
2	54135702	.	T	C	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PSME4:NM_014614:exon23:c.A2630G:p.N877S,;ANNO=splicing:PSME4
2	54164528	.	T	C	100	PASS	AC=31;STUDIES=5;MAC=31;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PSME4:NM_014614:exon5:c.A695G:p.K232R,;ANNO=splicing:PSME4
2	54362591	.	T	A	100	PASS	AC=219;STUDIES=9;MAC=219;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ACYP2:NM_138448:exon2:c.T60A:p.G20G,;ANNO=splicing:ACYP2
2	54894741	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SPTBN1:NM_003128:exon35:c.A6834G:p.R2278R,;ANNO=splicing:SPTBN1
2	55255355	.	A	G	100	PASS	AC=33;STUDIES=8;MAC=33;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RTN4:NM_020532:exon2:c.T558C:p.D186D,RTN4:NM_207520:exon2:c.T558C:p.D186D,;ANNO=splicing:RTN4
2	55407644	.	A	T	100	PASS	AC=200;STUDIES=15;MAC=200;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C2orf63(NM_152385:c.1384+2T>A,NM_001135598:c.1018+2T>A)
2	55479788	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:MTIF2:NM_001005369:exon9:c.C666T:p.V222V,MTIF2:NM_002453:exon8:c.C666T:p.V222V,;ANNO=splicing:MTIF2
2	55544485	.	A	C	100	PASS	AC=18;STUDIES=3;MAC=18;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCDC88A:NM_001135597:exon21:c.T3600G:p.R1200R,CCDC88A:NM_018084:exon21:c.T3603G:p.R1201R,;ANNO=splicing:CCDC88A
2	55804451	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SMEK2:NM_001122964:exon11:c.G1606A:p.D536N,SMEK2:NM_020463:exon10:c.G1510A:p.G504S,;ANNO=splicing:SMEK2
2	55870454	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:PNPT1:NM_033109:exon24:c.T2013C:p.D671D,;ANNO=splicing:PNPT1
2	55870560	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:PNPT1:NM_033109:exon24:c.G1907A:p.G636D,;ANNO=splicing:PNPT1
2	55910969	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PNPT1:NM_033109:exon5:c.A404T:p.D135V,;ANNO=splicing:PNPT1
2	61147243	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:REL:NM_002908:exon8:c.C921T:p.H307H,;ANNO=splicing:REL
2	61239042	.	T	C	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PUS10
2	61344675	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA1841:NM_032506:exon19:c.G1939A:p.D647N,KIAA1841:NM_001129993:exon19:c.G1939A:p.D647N,;ANNO=splicing:KIAA1841
2	61455856	.	T	A	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:USP34(NM_014709:c.7368-2A>T)
2	61463044	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:USP34:NM_014709:exon57:c.C6968G:p.P2323R,;ANNO=splicing:USP34
2	61472345	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:USP34:NM_014709:exon51:c.G6627A:p.T2209T,;ANNO=splicing:USP34
2	63667005	.	G	C	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WDPCP:NM_015910:exon7:c.C385G:p.L129V,;ANNO=splicing:WDPCP
2	63714580	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDPCP(NM_015910:c.208+1G>A)
2	63719990	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDPCP:NM_015910:exon2:c.G160A:p.D54N,;ANNO=splicing:WDPCP
2	63719991	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:WDPCP:NM_015910:exon2:c.G159A:p.A53A,;ANNO=splicing:WDPCP
2	64085070	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UGP2:NM_001001521:exon3:c.G222A:p.S74S,UGP2:NM_006759:exon3:c.G255A:p.S85S,;ANNO=splicing:UGP2
2	64117216	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UGP2:NM_001001521:exon9:c.T1283C:p.V428A,UGP2:NM_006759:exon9:c.T1316C:p.V439A,;ANNO=splicing:UGP2
2	65559121	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SPRED2:NM_181784:exon4:c.A438G:p.T146T,SPRED2:NM_001128210:exon4:c.A429G:p.T143T,;ANNO=splicing:SPRED2
2	68384656	.	T	A	100	PASS	AC=31;STUDIES=2;MAC=31;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:WDR92
2	68521158	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CNRIP1:NM_015463:exon3:c.T331C:p.F111L,;ANNO=splicing:CNRIP1
2	68717322	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:APLF:NM_173545:exon2:c.A97G:p.I33V,;ANNO=splicing:APLF
2	68717393	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:APLF:NM_173545:exon2:c.G168A:p.P56P,;ANNO=splicing:APLF
2	68794471	.	A	G	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:APLF(NM_173545:c.1286-2A>G)
2	70015272	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ANXA4:NM_001153:exon3:c.C96T:p.L32L,;ANNO=splicing:ANXA4
2	70529056	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:FAM136A(NM_032822:c.87+1G>A)
2	71190441	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ATP6V1B1:NM_001692:exon10:c.C1059T:p.D353D,;ANNO=splicing:ATP6V1B1
2	71209229	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ANKRD53:NM_001115116:exon4:c.C781T:p.R261W,ANKRD53:NM_024933:exon4:c.C781T:p.R261W,;ANNO=splicing:ANKRD53
2	71357309	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MCEE(NM_032601:c.40+1G>T)
2	71357884	.	C	A	100	PASS	AC=37;STUDIES=4;MAC=37;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MPHOSPH10:NM_005791:exon1:c.C89A:p.T30K,;ANNO=splicing:MPHOSPH10
2	71361235	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MPHOSPH10:NM_005791:exon3:c.C926T:p.T309M,;ANNO=splicing:MPHOSPH10
2	71371668	.	G	A	100	PASS	AC=20;STUDIES=11;MAC=20;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MPHOSPH10:NM_005791:exon8:c.G1557A:p.P519P,;ANNO=splicing:MPHOSPH10
2	71748034	.	T	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DYSF:NM_001130982:exon12:c.T1149G:p.P383P,DYSF:NM_001130978:exon11:c.T1053G:p.P351P,DYSF:NM_001130987:exon12:c.T1149G:p.P383P,DYSF:NM_001130981:exon12:c.T1146G:p.P382P,DYSF:NM_001130455:exon11:c.T1056G:p.P352P,DYSF:NM_001130985:exon12:c.T1149G:p.P383P,DYSF:NM_001130979:exon12:c.T1146G:p.P382P,DYSF:NM_001130984:exon11:c.T1056G:p.P352P,DYSF:NM_001130976:exon11:c.T1053G:p.P351P,DYSF:NM_001130980:exon12:c.T1146G:p.P382P,DYSF:NM_001130983:exon11:c.T1056G:p.P352P,DYSF:NM_001130986:exon11:c.T1056G:p.P352P,DYSF:NM_001130977:exon11:c.T1053G:p.P351P,DYSF:NM_003494:exon11:c.T1053G:p.P351P,;ANNO=splicing:DYSF
2	71762219	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DYSF:NM_001130982:exon15:c.G1449A:p.M483I,DYSF:NM_001130978:exon14:c.G1353A:p.M451I,DYSF:NM_001130987:exon15:c.G1449A:p.M483I,DYSF:NM_001130981:exon15:c.G1446A:p.M482I,DYSF:NM_001130455:exon14:c.G1356A:p.M452I,DYSF:NM_001130985:exon15:c.G1449A:p.M483I,DYSF:NM_001130979:exon15:c.G1446A:p.M482I,DYSF:NM_001130984:exon14:c.G1356A:p.M452I,DYSF:NM_001130976:exon14:c.G1353A:p.M451I,DYSF:NM_001130980:exon15:c.G1446A:p.M482I,DYSF:NM_001130983:exon14:c.G1356A:p.M452I,DYSF:NM_001130986:exon14:c.G1356A:p.M452I,DYSF:NM_001130977:exon14:c.G1353A:p.M451I,DYSF:NM_003494:exon14:c.G1353A:p.M451I,;ANNO=splicing:DYSF
2	71795213	.	G	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DYSF(NM_001130978:c.2643+1G>A,NM_001130980:c.2694+1G>A,NM_003494:c.2643+1G>A,NM_001130979:c.2736+1G>A,NM_001130977:c.2601+1G>A,NM_001130976:c.2601+1G>A,NM_001130981:c.2694+1G>A,NM_001130983:c.2646+1G>A,NM_001130455:c.2646+1G>A,NM_001130984:c.2604+1G>A,NM_001130985:c.2697+1G>A,NM_001130982:c.2739+1G>A,NM_001130987:c.2697+1G>A,NM_001130986:c.2604+1G>A)
2	71795468	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DYSF:NM_001130982:exon27:c.C2906T:p.T969I,DYSF:NM_001130978:exon26:c.C2810T:p.T937I,DYSF:NM_001130987:exon26:c.C2864T:p.T955I,DYSF:NM_001130981:exon26:c.C2861T:p.T954I,DYSF:NM_001130455:exon26:c.C2813T:p.T938I,DYSF:NM_001130985:exon26:c.C2864T:p.T955I,DYSF:NM_001130979:exon27:c.C2903T:p.T968I,DYSF:NM_001130984:exon25:c.C2771T:p.T924I,DYSF:NM_001130976:exon25:c.C2768T:p.T923I,DYSF:NM_001130980:exon26:c.C2861T:p.T954I,DYSF:NM_001130983:exon26:c.C2813T:p.T938I,DYSF:NM_001130986:exon25:c.C2771T:p.T924I,DYSF:NM_001130977:exon25:c.C2768T:p.T923I,DYSF:NM_003494:exon26:c.C2810T:p.T937I,;ANNO=splicing:DYSF
2	71825875	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DYSF:NM_001130982:exon34:c.T3798C:p.Y1266Y,DYSF:NM_001130978:exon33:c.T3702C:p.Y1234Y,DYSF:NM_001130987:exon33:c.T3756C:p.Y1252Y,DYSF:NM_001130981:exon33:c.T3753C:p.Y1251Y,DYSF:NM_001130455:exon33:c.T3705C:p.Y1235Y,DYSF:NM_001130985:exon33:c.T3756C:p.Y1252Y,DYSF:NM_001130979:exon34:c.T3795C:p.Y1265Y,DYSF:NM_001130984:exon32:c.T3663C:p.Y1221Y,DYSF:NM_001130976:exon32:c.T3660C:p.Y1220Y,DYSF:NM_001130980:exon33:c.T3753C:p.Y1251Y,DYSF:NM_001130983:exon33:c.T3705C:p.Y1235Y,DYSF:NM_001130986:exon32:c.T3663C:p.Y1221Y,DYSF:NM_001130977:exon32:c.T3660C:p.Y1220Y,DYSF:NM_003494:exon33:c.T3702C:p.Y1234Y,;ANNO=splicing:DYSF
2	71840465	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DYSF:NM_001130982:exon41:c.C4431T:p.D1477D,DYSF:NM_001130978:exon40:c.C4335T:p.D1445D,DYSF:NM_001130987:exon40:c.C4389T:p.D1463D,DYSF:NM_001130981:exon40:c.C4386T:p.D1462D,DYSF:NM_001130455:exon40:c.C4338T:p.D1446D,DYSF:NM_001130985:exon40:c.C4389T:p.D1463D,DYSF:NM_001130979:exon41:c.C4428T:p.D1476D,DYSF:NM_001130984:exon39:c.C4296T:p.D1432D,DYSF:NM_001130976:exon39:c.C4293T:p.D1431D,DYSF:NM_001130980:exon40:c.C4386T:p.D1462D,DYSF:NM_001130983:exon40:c.C4338T:p.D1446D,DYSF:NM_001130986:exon39:c.C4296T:p.D1432D,DYSF:NM_001130977:exon39:c.C4293T:p.D1431D,DYSF:NM_003494:exon40:c.C4335T:p.D1445D,;ANNO=splicing:DYSF
2	71883292	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DYSF:NM_001130982:exon43:c.G4606A:p.V1536I,DYSF:NM_001130978:exon43:c.G4573A:p.V1525I,DYSF:NM_001130987:exon43:c.G4627A:p.V1543I,DYSF:NM_001130981:exon43:c.G4624A:p.V1542I,DYSF:NM_001130455:exon42:c.G4513A:p.V1505I,DYSF:NM_001130985:exon42:c.G4564A:p.V1522I,DYSF:NM_001130979:exon43:c.G4603A:p.V1535I,DYSF:NM_001130984:exon42:c.G4534A:p.V1512I,DYSF:NM_001130976:exon41:c.G4468A:p.V1490I,DYSF:NM_001130980:exon42:c.G4561A:p.V1521I,DYSF:NM_001130983:exon43:c.G4576A:p.V1526I,DYSF:NM_001130986:exon41:c.G4471A:p.V1491I,DYSF:NM_001130977:exon42:c.G4531A:p.V1511I,DYSF:NM_003494:exon42:c.G4510A:p.V1504I,;ANNO=splicing:DYSF
2	71906365	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DYSF:NM_001130982:exon53:c.G6042A:p.A2014A,DYSF:NM_001130978:exon53:c.G6009A:p.A2003A,DYSF:NM_001130987:exon53:c.G6063A:p.A2021A,DYSF:NM_001130981:exon53:c.G6060A:p.A2020A,DYSF:NM_001130455:exon52:c.G5949A:p.A1983A,DYSF:NM_001130985:exon52:c.G6000A:p.A2000A,DYSF:NM_001130979:exon53:c.G6039A:p.A2013A,DYSF:NM_001130984:exon52:c.G5970A:p.A1990A,DYSF:NM_001130976:exon51:c.G5904A:p.A1968A,DYSF:NM_001130980:exon52:c.G5997A:p.A1999A,DYSF:NM_001130983:exon53:c.G6012A:p.A2004A,DYSF:NM_001130986:exon51:c.G5907A:p.A1969A,DYSF:NM_001130977:exon52:c.G5967A:p.A1989A,DYSF:NM_003494:exon52:c.G5946A:p.A1982A,;ANNO=splicing:DYSF
2	71909660	.	G	A	100	PASS	AC=12;STUDIES=8;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DYSF:NM_001130982:exon55:c.G6153A:p.R2051R,DYSF:NM_001130978:exon55:c.G6120A:p.R2040R,DYSF:NM_001130987:exon55:c.G6174A:p.R2058R,DYSF:NM_001130981:exon55:c.G6171A:p.R2057R,DYSF:NM_001130455:exon54:c.G6060A:p.R2020R,DYSF:NM_001130985:exon54:c.G6111A:p.R2037R,DYSF:NM_001130979:exon55:c.G6150A:p.R2050R,DYSF:NM_001130984:exon54:c.G6081A:p.R2027R,DYSF:NM_001130976:exon53:c.G6015A:p.R2005R,DYSF:NM_001130980:exon54:c.G6108A:p.R2036R,DYSF:NM_001130983:exon55:c.G6123A:p.R2041R,DYSF:NM_001130986:exon53:c.G6018A:p.R2006R,DYSF:NM_001130977:exon54:c.G6078A:p.R2026R,DYSF:NM_003494:exon54:c.G6057A:p.R2019R,;ANNO=splicing:DYSF
2	71909806	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DYSF:NM_001130982:exon55:c.C6299T:p.P2100L,DYSF:NM_001130978:exon55:c.C6266T:p.P2089L,DYSF:NM_001130987:exon55:c.C6320T:p.P2107L,DYSF:NM_001130981:exon55:c.C6317T:p.P2106L,DYSF:NM_001130455:exon54:c.C6206T:p.P2069L,DYSF:NM_001130985:exon54:c.C6257T:p.P2086L,DYSF:NM_001130979:exon55:c.C6296T:p.P2099L,DYSF:NM_001130984:exon54:c.C6227T:p.P2076L,DYSF:NM_001130976:exon53:c.C6161T:p.P2054L,DYSF:NM_001130980:exon54:c.C6254T:p.P2085L,DYSF:NM_001130983:exon55:c.C6269T:p.P2090L,DYSF:NM_001130986:exon53:c.C6164T:p.P2055L,DYSF:NM_001130977:exon54:c.C6224T:p.P2075L,DYSF:NM_003494:exon54:c.C6203T:p.P2068L,;ANNO=splicing:DYSF
2	73457240	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:PRADC1(NM_032319:c.168+1G>A)
2	74077640	.	T	C	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:STAMBP:NM_006463:exon8:c.C1005C:p.H335H,STAMBP:NM_213622:exon7:c.T1005C:p.R335R,STAMBP:NM_201647:exon7:c.C1005C:p.Y335Y,;ANNO=splicing:STAMBP
2	74605371	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DCTN1:NM_004082:exon2:c.C35T:p.T12M,DCTN1:NM_001190837:exon2:c.C35T:p.T12M,DCTN1:NM_001135040:exon2:c.C35T:p.T12M,;ANNO=splicing:DCTN1
2	74686873	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WBP1(NM_012477:c.172+1G>C)
2	74687349	.	C	T	100	PASS	AC=47;STUDIES=8;MAC=47;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:WBP1:NM_012477:exon4:c.C351T:p.R117R,;ANNO=splicing:WBP1
2	74702529	.	T	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC142:NM_032779:exon7:c.A1598T:p.E533V,;ANNO=splicing:CCDC142
2	74732316	.	G	A	100	PASS	AC=103;STUDIES=3;MAC=103;MAF=0.033;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:PCGF1:NM_032673:exon9:c.C734T:p.P245L,;ANNO=splicing:PCGF1
2	74746166	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DQX1(NM_133637:c.1997+1G>A)
2	74763418	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LOXL3:NM_032603:exon6:c.G1093C:p.G365R,;ANNO=splicing:LOXL3
2	74803744	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C2orf65:NM_138804:exon6:c.G771A:p.M257I,;ANNO=splicing:C2orf65
2	75921366	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C2orf3(NM_001201334:c.513+1G>A,NM_003203:c.1020+1G>A)
2	75933779	.	T	C	100	PASS	AC=17;STUDIES=7;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:C2orf3(NM_003203:c.265-2A>G,NM_001201335:c.265-2A>G)
2	79253210	.	C	T	100	PASS	AC=46;STUDIES=5;MAC=46;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:REG3G
2	79385777	.	A	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:REG3A:NM_002580:exon3:c.T195A:p.D65E,REG3A:NM_138937:exon3:c.T195A:p.D65E,REG3A:NM_138938:exon2:c.T195A:p.D65E,;ANNO=splicing:REG3A
2	85039465	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DNAH6:NM_001370:exon73:c.A11740G:p.T3914A,;ANNO=splicing:DNAH6
2	85532525	.	G	A	100	PASS	AC=19;STUDIES=2;MAC=19;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TCF7L1:NM_031283:exon8:c.G988A:p.V330M,;ANNO=splicing:TCF7L1
2	85578987	.	T	C	100	PASS	AC=18;STUDIES=9;MAC=18;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RETSAT(NM_017750:c.172-2A>G)
2	85820069	.	A	G	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VAMP5(NM_006634:c.141-2A>G)
2	85820070	.	G	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VAMP5(NM_006634:c.141-1G>T)
2	85893741	.	G	A	100	PASS	AC=12009;STUDIES=20;MAC=9999;MAF=0.454;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SFTPB:NM_198843:exon5:c.C428T:p.T143I,SFTPB:NM_000542:exon5:c.C428T:p.T143I,;ANNO=splicing:SFTPB
2	85923181	.	T	C	100	PASS	AC=32;STUDIES=13;MAC=32;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GNLY(NM_012483:c.210+2T>C,NM_006433:c.255+2T>C)
2	86260785	.	C	T	100	PASS	AC=315;STUDIES=19;MAC=315;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:POLR1A:NM_015425:exon28:c.G4160A:p.R1387Q,;ANNO=splicing:POLR1A
2	86344179	.	G	A	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:PTCD3:NM_017952:exon6:c.G311A:p.R104H,;ANNO=splicing:PTCD3
2	86344281	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTCD3:NM_017952:exon6:c.C413T:p.P138L,;ANNO=splicing:PTCD3
2	86380697	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IMMT:NM_001100169:exon11:c.G1160A:p.S387N,IMMT:NM_006839:exon11:c.G1163A:p.S388N,IMMT:NM_001100170:exon11:c.G1130A:p.S377N,;ANNO=splicing:IMMT
2	86389099	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IMMT:NM_001100169:exon8:c.A893G:p.K298R,IMMT:NM_006839:exon8:c.A896G:p.K299R,IMMT:NM_001100170:exon8:c.A863G:p.K288R,;ANNO=splicing:IMMT
2	86406556	.	C	T	100	PASS	AC=1256;STUDIES=21;MAC=1256;MAF=0.055;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:IMMT:NM_001100169:exon3:c.G309A:p.S103S,IMMT:NM_006839:exon3:c.G309A:p.S103S,IMMT:NM_001100170:exon3:c.G309A:p.S103S,;ANNO=splicing:IMMT
2	86439550	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MRPL35
2	86459749	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:REEP1:NM_001164732:exon4:c.A359G:p.Q120R,;ANNO=splicing:REEP1
2	86683566	.	T	G	100	PASS	AC=31;STUDIES=2;MAC=31;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KDM3A:NM_001146688:exon6:c.T558G:p.G186G,KDM3A:NM_018433:exon6:c.T558G:p.G186G,;ANNO=splicing:KDM3A
2	86756342	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VPS24:NM_016079:exon3:c.C285T:p.L95L,RNF103-VPS24:NM_001198954:exon5:c.C372T:p.L124L,VPS24:NM_001005753:exon2:c.C87T:p.L29L,;ANNO=splicing:RNF103-VPS24,VPS24
2	87015653	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CD8A:NM_171827:exon4:c.G545T:p.R182L,CD8A:NM_001768:exon5:c.G656T:p.R219L,CD8A:NM_001145873:exon8:c.G656T:p.R219L,;ANNO=splicing:CD8A
2	87016872	.	C	T	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CD8A:NM_171827:exon3:c.G405A:p.A135A,CD8A:NM_001768:exon3:c.G405A:p.A135A,CD8A:NM_001145873:exon6:c.G405A:p.A135A,;ANNO=splicing:CD8A
2	87049443	.	C	T	100	PASS	AC=16;STUDIES=2;MAC=16;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD8B(NM_172101:c.674+1G>A)
2	88427471	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FABP1:NM_001443:exon1:c.C66T:p.I22I,;ANNO=splicing:FABP1
2	88478534	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:THNSL2(NM_018271:c.802+2T>C)
2	95540522	.	G	A	100	PASS	AC=32;STUDIES=8;MAC=32;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TEKT4:NM_144705:exon4:c.G715A:p.A239T,;ANNO=splicing:TEKT4
2	95719126	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MAL:NM_002371:exon4:c.G388A:p.V130M,MAL:NM_022438:exon3:c.G262A:p.V88M,MAL:NM_022440:exon2:c.G94A:p.V32M,MAL:NM_022439:exon3:c.G220A:p.V74M,;ANNO=splicing:MAL
2	95780948	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MRPS5:NM_031902:exon3:c.G140A:p.G47D,;ANNO=splicing:MRPS5
2	95845905	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF2:NM_001017396:exon3:c.C36A:p.G12G,ZNF2:NM_021088:exon4:c.C162A:p.G54G,;ANNO=splicing:ZNF2
2	95941676	.	A	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PROM2(NM_001165977:c.294-2A>T,NM_144707:c.294-2A>T,NM_001165978:c.294-2A>T)
2	95945594	.	T	G	100	PASS	AC=23;STUDIES=2;MAC=23;MAF=0.052;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PROM2:NM_144707:exon11:c.T1276G:p.W426G,PROM2:NM_001165978:exon11:c.T1276G:p.W426G,PROM2:NM_001165977:exon11:c.T1276G:p.W426G,;ANNO=splicing:PROM2
2	95952226	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PROM2(NM_001165977:c.1947-1G>A,NM_144707:c.1947-1G>A,NM_001165978:c.1947-1G>A)
2	96688471	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GPAT2:NM_207328:exon21:c.A2216C:p.E739A,;ANNO=splicing:GPAT2
2	96801150	.	C	A	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ASTL:NM_001002036:exon3:c.G183T:p.G61G,;ANNO=splicing:ASTL
2	96935007	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CIAO1:NM_004804:exon6:c.G693A:p.G231G,;ANNO=splicing:CIAO1
2	96942978	.	C	G	100	PASS	AC=180;STUDIES=17;MAC=180;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:SNRNP200:NM_014014:exon42:c.G5933C:p.G1978A,;ANNO=splicing:SNRNP200
2	96950323	.	C	T	100	PASS	AC=123;STUDIES=17;MAC=123;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SNRNP200:NM_014014:exon31:c.G4165A:p.V1389I,;ANNO=splicing:SNRNP200
2	96954854	.	T	C	100	PASS	AC=55;STUDIES=3;MAC=55;MAF=0.065;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SNRNP200:NM_014014:exon23:c.A3095G:p.E1032G,;ANNO=splicing:SNRNP200
2	97279225	.	T	C	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KIAA1310:NM_001115016:exon6:c.A795G:p.P265P,KIAA1310:NM_017991:exon6:c.A534G:p.P178P,;ANNO=splicing:KIAA1310
2	97354949	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FER1L5(NM_001113382:c.2346-1G>A)
2	97377761	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LMAN2L:NM_001142292:exon6:c.G542A:p.R181Q,LMAN2L:NM_030805:exon5:c.G509A:p.R170Q,;ANNO=splicing:LMAN2L
2	97399339	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LMAN2L(NM_001142292:c.424-1G>C,NM_030805:c.424-1G>C)
2	97465384	.	C	T	100	PASS	AC=285;STUDIES=15;MAC=285;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CNNM4:NM_020184:exon5:c.C1947T:p.S649S,;ANNO=splicing:CNNM4
2	97817617	.	T	C	100	PASS	AC=463;STUDIES=2;MAC=463;MAF=0.373;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:ANKRD36:NM_001164315:exon13:c.T1103C:p.I368T,;ANNO=splicing:ANKRD36
2	97820478	.	G	A	100	PASS	AC=483;STUDIES=2;MAC=483;MAF=0.345;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=5;ANNO=synonymous:ANKRD36:NM_001164315:exon15:c.G1260A:p.E420E,;ANNO=splicing:ANKRD36
2	97823903	.	T	G	100	PASS	AC=150;STUDIES=2;MAC=150;MAF=0.131;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:ANKRD36:NM_001164315:exon16:c.T1320G:p.N440K,;ANNO=splicing:ANKRD36
2	97858622	.	C	A	100	PASS	AC=58;STUDIES=2;MAC=58;MAF=0.043;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:ANKRD36:NM_001164315:exon37:c.C2375A:p.T792K,;ANNO=splicing:ANKRD36
2	97860581	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:ANKRD36(NM_001164315:c.2478-1G>A)
2	98273912	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACTR1B:NM_005735:exon9:c.A986G:p.K329R,;ANNO=splicing:ACTR1B
2	98275343	.	G	A	100	PASS	AC=54;STUDIES=7;MAC=54;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ACTR1B:NM_005735:exon5:c.C439T:p.L147L,;ANNO=splicing:ACTR1B
2	98736225	.	C	T	100	PASS	AC=2006;STUDIES=22;MAC=2006;MAF=0.083;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VWA3B:NM_144992:exon4:c.C541T:p.R181W,;ANNO=splicing:VWA3B
2	98779439	.	G	T	100	PASS	AC=766;STUDIES=22;MAC=766;MAF=0.032;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:VWA3B:NM_144992:exon8:c.G1114T:p.E372X,;ANNO=splicing:VWA3B
2	98928494	.	G	A	100	PASS	AC=22980;STUDIES=22;MAC=766;MAF=0.032;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VWA3B:NM_144992:exon27:c.G3734A:p.R1245K,;ANNO=splicing:VWA3B
2	98986540	.	G	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CNGA3(NM_001079878:c.101+1G>A,NM_001298:c.101+1G>A)
2	99858946	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LYG2(NM_175735:c.520-1G>A)
2	99863144	.	G	A	100	PASS	AC=18;STUDIES=6;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LYG2:NM_175735:exon3:c.C183T:p.C61C,;ANNO=splicing:LYG2
2	99901150	.	C	T	100	PASS	AC=20;STUDIES=7;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LYG1(NM_174898:c.466+1G>A)
2	99938672	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TXNDC9:NM_005783:exon4:c.G309T:p.R103S,;ANNO=splicing:TXNDC9
2	99985946	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EIF5B(NM_015904:c.1477+2C>T)
2	99992808	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EIF5B(NM_015904:c.1552-2A>G)
2	100453940	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AFF3:NM_001025108:exon7:c.G995A:p.R332Q,AFF3:NM_002285:exon7:c.G920A:p.R307Q,;ANNO=splicing:AFF3
2	101011971	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CHST10:NM_004854:exon6:c.G533A:p.R178Q,;ANNO=splicing:CHST10
2	101019117	.	A	G	100	PASS	AC=61;STUDIES=6;MAC=61;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CHST10:NM_004854:exon4:c.T101C:p.V34A,;ANNO=splicing:CHST10
2	101093729	.	G	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NMS:NM_001011717:exon4:c.G207T:p.R69S,;ANNO=splicing:NMS
2	101096958	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:NMS:NM_001011717:exon7:c.G337A:p.G113S,;ANNO=splicing:NMS
2	101186041	.	C	T	100	PASS	AC=17;STUDIES=10;MAC=17;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PDCL3:NM_024065:exon4:c.C226T:p.R76W,;ANNO=splicing:PDCL3
2	101638744	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TBC1D8:NM_001102426:exon16:c.C2715T:p.L905L,;ANNO=splicing:TBC1D8
2	101654169	.	G	C	100	PASS	AC=108;STUDIES=7;MAC=108;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TBC1D8:NM_001102426:exon8:c.C1232G:p.A411G,;ANNO=splicing:TBC1D8
2	101910476	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RNF149:NM_173647:exon3:c.G780A:p.K260K,;ANNO=splicing:RNF149
2	101999995	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CREG2:NM_153836:exon2:c.G611C:p.R204T,;ANNO=splicing:CREG2
2	102038824	.	C	T	100	PASS	AC=37;STUDIES=4;MAC=37;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RFX8:NM_001145664:exon3:c.G183A:p.M61I,;ANNO=splicing:RFX8
2	102038936	.	T	G	100	PASS	AC=231;STUDIES=5;MAC=231;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RFX8(NM_001145664:c.72-2A>C)
2	102505259	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MAP4K4:NM_145687:exon30:c.A3417G:p.G1139G,MAP4K4:NM_004834:exon29:c.A3276G:p.Q1092Q,MAP4K4:NM_145686:exon30:c.A3600G:p.L1200L,;ANNO=splicing:MAP4K4
2	103125391	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC9A4:NM_001011552:exon6:c.G1487A:p.R496H,;ANNO=splicing:SLC9A4
2	103141484	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC9A4:NM_001011552:exon10:c.C1820A:p.T607N,;ANNO=splicing:SLC9A4
2	103379144	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TMEM182:NM_144632:exon2:c.C231T:p.Y77Y,;ANNO=splicing:TMEM182
2	105665808	.	C	T	100	PASS	AC=5238;STUDIES=22;MAC=5238;MAF=0.217;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MRPS9:NM_182640:exon2:c.C315T:p.D105D,;ANNO=splicing:MRPS9
2	106690498	.	C	T	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:C2orf40:NM_032411:exon3:c.C284T:p.A95V,;ANNO=splicing:C2orf40
2	106729102	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:UXS1:NM_025076:exon10:c.G864A:p.T288T,;ANNO=splicing:UXS1
2	108479487	.	A	T	100	PASS	AC=180;STUDIES=2;MAC=180;MAF=0.268;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=4;ANNO=nonsynonymous:RGPD4:NM_182588:exon17:c.A2468T:p.K823M,;ANNO=splicing:RGPD4
2	108863652	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:SULT1C3:NM_001008743:exon1:c.T2C:p.M1T,;ANNO=splicing:SULT1C3
2	109276221	.	G	T	100	PASS	AC=217;STUDIES=6;MAC=217;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:LIMS1(NM_001193483:c.192+1G>T,NM_004987:c.156+1G>T,NM_001193488:c.156+1G>T,NM_001193482:c.168+1G>T,NM_001193484:c.267+1G>T,NM_001193485:c.342+1G>T)
2	109405421	.	T	C	100	PASS	AC=188;STUDIES=8;MAC=188;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC138:NM_144978:exon3:c.T265C:p.C89R,;ANNO=splicing:CCDC138
2	109429277	.	G	C	100	PASS	AC=73;STUDIES=7;MAC=73;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC138:NM_144978:exon9:c.G935C:p.R312T,;ANNO=splicing:CCDC138
2	110919181	.	G	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NPHP1:NM_001128178:exon10:c.C953T:p.T318I,NPHP1:NM_000272:exon10:c.C1121T:p.T374I,NPHP1:NM_207181:exon10:c.C1118T:p.T373I,NPHP1:NM_001128179:exon8:c.C764T:p.T255I,;ANNO=splicing:NPHP1
2	110920625	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NPHP1:NM_001128178:exon9:c.G859A:p.G287R,NPHP1:NM_000272:exon9:c.G1027A:p.G343R,NPHP1:NM_207181:exon9:c.G1024A:p.G342R,NPHP1:NM_001128179:exon7:c.G670A:p.G224R,;ANNO=splicing:NPHP1
2	110922096	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NPHP1(NM_207181:c.939+1G>T,NM_000272:c.939+1G>T)
2	111395736	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BUB1:NM_004336:exon25:c.G3063C:p.R1021S,;ANNO=splicing:BUB1
2	111416192	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BUB1:NM_004336:exon12:c.A1404C:p.L468F,;ANNO=splicing:BUB1
2	111417615	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BUB1(NM_004336:c.1217-2A>G)
2	111559229	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:ACOXL:NM_001142807:exon8:c.G548A:p.G183D,;ANNO=splicing:ACOXL
2	111598983	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACOXL(NM_001142807:c.788+1G>A)
2	111666367	.	C	T	100	PASS	AC=209;STUDIES=9;MAC=209;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ACOXL:NM_001142807:exon11:c.C790T:p.R264W,;ANNO=splicing:ACOXL
2	111806794	.	G	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACOXL(NM_001142807:c.1369-1G>T)
2	112582744	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ANAPC1:NM_022662:exon23:c.C2705T:p.A902V,;ANNO=splicing:ANAPC1
2	112605302	.	C	T	100	PASS	AC=2795;STUDIES=7;MAC=2677;MAF=0.489;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=4;ANNO=synonymous:ANAPC1:NM_022662:exon15:c.G1791A:p.L597L,;ANNO=splicing:ANAPC1
2	112656372	.	A	T	100	PASS	AC=605;STUDIES=16;MAC=605;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MERTK:NM_006343:exon1:c.A60T:p.R20S,;ANNO=splicing:MERTK
2	112705143	.	A	G	100	PASS	AC=252;STUDIES=17;MAC=252;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MERTK:NM_006343:exon4:c.A756G:p.P252P,;ANNO=splicing:MERTK
2	112722854	.	G	A	100	PASS	AC=559;STUDIES=14;MAC=559;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MERTK:NM_006343:exon5:c.G844A:p.A282T,;ANNO=splicing:MERTK
2	112940369	.	C	T	100	PASS	AC=37;STUDIES=9;MAC=37;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:FBLN7:NM_153214:exon6:c.C672T:p.D224D,FBLN7:NM_001128165:exon5:c.C534T:p.D178D,;ANNO=splicing:FBLN7
2	112991812	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZC3H8:NM_032494:exon5:c.A506G:p.D169G,;ANNO=splicing:ZC3H8
2	112995893	.	C	T	100	PASS	AC=182;STUDIES=18;MAC=182;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZC3H8:NM_032494:exon3:c.G369A:p.Q123Q,;ANNO=splicing:ZC3H8
2	113321944	.	G	C	100	PASS	AC=415;STUDIES=10;MAC=415;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:POLR1B:NM_001137604:exon9:c.G1446C:p.G482G,POLR1B:NM_019014:exon10:c.G1614C:p.G538G,;ANNO=splicing:POLR1B
2	113410374	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC20A1:NM_005415:exon5:c.G657A:p.P219P,;ANNO=splicing:SLC20A1
2	113541301	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IL1A:NM_000575:exon2:c.G47A:p.S16N,;ANNO=splicing:IL1A
2	113675354	.	G	A	100	PASS	AC=28;STUDIES=6;MAC=28;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IL37:NM_173205:exon3:c.G330A:p.K110K,IL37:NM_173202:exon3:c.G345A:p.K115K,IL37:NM_173204:exon3:c.G288A:p.K96K,IL37:NM_173203:exon2:c.G225A:p.K75K,IL37:NM_014439:exon4:c.G408A:p.K136K,;ANNO=splicing:IL37
2	113783678	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IL36B(NM_014438:c.391+2T>C)
2	113820031	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IL36RN:NM_012275:exon5:c.C245T:p.P82L,IL36RN:NM_173170:exon5:c.C245T:p.P82L,;ANNO=splicing:IL36RN
2	113830347	.	T	G	100	PASS	AC=19;STUDIES=4;MAC=19;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IL1F10:NM_032556:exon1:c.T32G:p.I11R,IL1F10:NM_173161:exon2:c.T32G:p.I11R,;ANNO=splicing:IL1F10
2	113942941	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PSD4(NM_012455:c.1173-1G>A)
2	113999303	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PAX8:NM_013953:exon7:c.G602A:p.S201N,PAX8:NM_013952:exon7:c.G602A:p.S201N,PAX8:NM_013992:exon7:c.G602A:p.S201N,PAX8:NM_003466:exon7:c.G602A:p.S201N,;ANNO=splicing:PAX8
2	114202631	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:CBWD2:NM_172003:exon4:c.A429G:p.P143P,;ANNO=splicing:CBWD2
2	114493355	.	G	A	100	PASS	AC=17;STUDIES=9;MAC=17;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC35F5:NM_025181:exon8:c.C831T:p.S277S,;ANNO=splicing:SLC35F5
2	116485392	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DPP10:NM_001178036:exon9:c.A427G:p.I143V,DPP10:NM_001004360:exon8:c.A556G:p.I186V,DPP10:NM_020868:exon8:c.A577G:p.I193V,DPP10:NM_001178034:exon8:c.A589G:p.I197V,DPP10:NM_001178037:exon8:c.A565G:p.I189V,;ANNO=splicing:DPP10
2	116593831	.	T	C	100	PASS	AC=36;STUDIES=6;MAC=36;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DPP10:NM_001178036:exon23:c.T1899C:p.Y633Y,DPP10:NM_001004360:exon22:c.T2028C:p.Y676Y,DPP10:NM_020868:exon22:c.T2049C:p.Y683Y,DPP10:NM_001178034:exon22:c.T2061C:p.Y687Y,DPP10:NM_001178037:exon22:c.T2037C:p.Y679Y,;ANNO=splicing:DPP10
2	116594083	.	C	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DPP10:NM_001178036:exon24:c.C1901A:p.A634D,DPP10:NM_001004360:exon23:c.C2030A:p.A677D,DPP10:NM_020868:exon23:c.C2051A:p.A684D,DPP10:NM_001178034:exon23:c.C2063A:p.A688D,DPP10:NM_001178037:exon23:c.C2039A:p.A680D,;ANNO=splicing:DPP10
2	118575304	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DDX18:NM_006773:exon2:c.G370A:p.D124N,;ANNO=splicing:DDX18
2	120020634	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:STEAP3:NM_182915:exon6:c.C1217T:p.S406F,STEAP3:NM_001008410:exon5:c.C1187T:p.S396F,STEAP3:NM_018234:exon6:c.C1187T:p.S396F,;ANNO=splicing:STEAP3
2	120069198	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C2orf76:NM_001017927:exon6:c.G304T:p.A102S,;ANNO=splicing:C2orf76
2	120069199	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C2orf76:NM_001017927:exon6:c.C303T:p.I101I,;ANNO=splicing:C2orf76
2	120078731	.	A	G	100	PASS	AC=366;STUDIES=11;MAC=366;MAF=0.033;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=3;ANNO=synonymous:C2orf76:NM_001017927:exon4:c.T183C:p.Y61Y,;ANNO=splicing:C2orf76
2	120204460	.	G	A	100	PASS	AC=20;STUDIES=11;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCTR:NM_002980:exon11:c.C1015T:p.R339C,;ANNO=splicing:SCTR
2	120210923	.	C	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCTR:NM_002980:exon8:c.G791T:p.G264V,;ANNO=splicing:SCTR
2	120369318	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PCDP1:NM_001029996:exon14:c.G453A:p.E151E,;ANNO=splicing:PCDP1
2	120692535	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PTPN4(NM_002830:c.1355+1G>A)
2	120922485	.	A	T	100	PASS	AC=114;STUDIES=18;MAC=114;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EPB41L5:NM_001184937:exon22:c.A1961T:p.Q654L,EPB41L5:NM_020909:exon22:c.A1961T:p.Q654L,;ANNO=splicing:EPB41L5
2	120925083	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EPB41L5:NM_001184937:exon23:c.G2004A:p.P668P,EPB41L5:NM_020909:exon23:c.G2004A:p.P668P,;ANNO=splicing:EPB41L5
2	121685041	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GLI2:NM_005270:exon2:c.G253A:p.G85R,;ANNO=splicing:GLI2
2	121729515	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GLI2(NM_005270:c.1059-2A>C)
2	121992886	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TFCP2L1:NM_014553:exon11:c.T1005G:p.G335G,;ANNO=splicing:TFCP2L1
2	125504806	.	A	G	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CNTNAP5:NM_130773:exon14:c.A2075G:p.D692G,;ANNO=splicing:CNTNAP5
2	127956952	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CYP27C1:NM_001001665:exon4:c.G552A:p.T184T,;ANNO=splicing:CYP27C1
2	128100702	.	C	T	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MAP3K2:NM_006609:exon1:c.T4A:p.F2I,;ANNO=splicing:MAP3K2
2	128180746	.	C	T	100	PASS	AC=34;STUDIES=4;MAC=34;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PROC:NM_000312:exon5:c.C399T:p.R133R,;ANNO=splicing:PROC
2	128246810	.	T	C	100	PASS	AC=93;STUDIES=6;MAC=93;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IWS1:NM_017969:exon12:c.A2161G:p.T721A,;ANNO=splicing:IWS1
2	128385948	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:MYO7B:NM_001080527:exon33:c.G4384T:p.E1462X,;ANNO=splicing:MYO7B
2	128389175	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO7B:NM_001080527:exon37:c.C5018A:p.A1673D,;ANNO=splicing:MYO7B
2	128398472	.	T	C	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LIMS2:NM_001136037:exon8:c.A818G:p.Q273R,LIMS2:NM_017980:exon7:c.A824G:p.Q275R,LIMS2:NM_001161403:exon7:c.A752G:p.Q251R,LIMS2:NM_001161404:exon7:c.A737G:p.Q246R,;ANNO=splicing:LIMS2
2	128861587	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:UGGT1:NM_020120:exon3:c.C276T:p.D92D,;ANNO=splicing:UGGT1
2	130737235	.	G	C	100	PASS	AC=218;STUDIES=2;MAC=148;MAF=0.404;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=splicing:RAB6C
2	130952038	.	G	A	100	PASS	AC=1245;STUDIES=8;MAC=1245;MAF=0.232;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:TUBA3E:NM_207312:exon4:c.C377T:p.A126V,;ANNO=splicing:TUBA3E
2	130952799	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:TUBA3E:NM_207312:exon3:c.T228A:p.D76E,;ANNO=splicing:TUBA3E
2	131117218	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTPN18:NM_014369:exon5:c.G413A:p.R138Q,;ANNO=splicing:PTPN18
2	131704208	.	G	A	100	PASS	AC=10;STUDIES=8;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ARHGEF4:NM_015320:exon4:c.G427A:p.A143T,ARHGEF4:NM_032995:exon4:c.G427A:p.A143T,;ANNO=splicing:ARHGEF4
2	132237643	.	C	T	100	PASS	AC=491;STUDIES=5;MAC=491;MAF=0.114;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=8;ANNO=nonsynonymous:TUBA3D:NM_080386:exon4:c.C377T:p.A126V,;ANNO=splicing:TUBA3D
2	135095831	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MGAT5:NM_002410:exon6:c.C647T:p.A216V,;ANNO=splicing:MGAT5
2	135602847	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACMSD:NM_138326:exon2:c.G102T:p.K34N,;ANNO=splicing:ACMSD
2	135621200	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACMSD:NM_138326:exon5:c.C485T:p.A162V,;ANNO=splicing:ACMSD
2	135757586	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:YSK4(NM_001018046:c.235-1G>A,NM_025052:c.235-1G>A)
2	135890553	.	A	G	100	PASS	AC=129;STUDIES=8;MAC=129;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RAB3GAP1:NM_012233:exon14:c.A1325G:p.Y442C,RAB3GAP1:NM_001172435:exon14:c.A1325G:p.Y442C,;ANNO=splicing:RAB3GAP1
2	135965002	.	A	G	100	PASS	AC=263;STUDIES=9;MAC=263;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZRANB3(NM_032143:c.3009+2T>C)
2	136023103	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZRANB3(NM_032143:c.1539+1G>A)
2	136029457	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZRANB3:NM_032143:exon10:c.A1087G:p.T363A,;ANNO=splicing:ZRANB3
2	136111018	.	A	C	100	PASS	AC=19;STUDIES=5;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZRANB3(NM_032143:c.359+2T>G)
2	136393658	.	A	G	100	PASS	AC=5277;STUDIES=22;MAC=5277;MAF=0.218;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:R3HDM1:NM_015361:exon11:c.A808G:p.M270V,;ANNO=splicing:R3HDM1
2	136575630	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LCT:NM_002299:exon6:c.A988G:p.M330V,;ANNO=splicing:LCT
2	138030234	.	C	T	100	PASS	AC=286;STUDIES=13;MAC=286;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:THSD7B(NM_001080427:c.2303+2C>T)
2	138758595	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HNMT:NM_006895:exon3:c.G298A:p.E100K,;ANNO=splicing:HNMT
2	139308625	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPOPL(NM_001001664:c.352+1G>A)
2	139326506	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPOPL:NM_001001664:exon11:c.C1035A:p.N345K,;ANNO=splicing:SPOPL
2	141032166	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LRP1B:NM_018557:exon85:c.C12969T:p.Y4323Y,;ANNO=splicing:LRP1B
2	141143578	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRP1B:NM_018557:exon67:c.A10415G:p.D3472G,;ANNO=splicing:LRP1B
2	141200073	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LRP1B:NM_018557:exon66:c.G10414A:p.D3472N,;ANNO=splicing:LRP1B
2	141250262	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRP1B:NM_018557:exon57:c.A9035G:p.D3012G,;ANNO=splicing:LRP1B
2	141299349	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LRP1B:NM_018557:exon44:c.C7386T:p.S2462S,;ANNO=splicing:LRP1B
2	141597653	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRP1B:NM_018557:exon31:c.A5116G:p.K1706E,;ANNO=splicing:LRP1B
2	141680716	.	T	C	100	PASS	AC=22;STUDIES=4;MAC=22;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRP1B:NM_018557:exon21:c.A3137G:p.E1046G,;ANNO=splicing:LRP1B
2	141739845	.	G	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRP1B:NM_018557:exon18:c.C2771G:p.A924G,;ANNO=splicing:LRP1B
2	144714905	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GTDC1:NM_001164629:exon9:c.T987C:p.D329D,GTDC1:NM_001006636:exon9:c.T987C:p.D329D,;ANNO=splicing:GTDC1
2	148695867	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ORC4:NM_181742:exon12:c.G1054A:p.E352K,ORC4:NM_002552:exon12:c.G1054A:p.E352K,ORC4:NM_001190879:exon13:c.G1054A:p.E352K,ORC4:NM_001190881:exon9:c.G802A:p.E268K,ORC4:NM_181741:exon12:c.G1054A:p.E352K,ORC4:NM_001190882:exon11:c.G832A:p.E278K,;ANNO=splicing:ORC4
2	149447942	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EPC2:NM_015630:exon2:c.C313T:p.P105S,;ANNO=splicing:EPC2
2	149866864	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIF5C:NM_004522:exon24:c.C2766T:p.I922I,;ANNO=splicing:KIF5C
2	150061918	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LYPD6B:NM_177964:exon4:c.C229T:p.P77S,;ANNO=splicing:LYPD6B
2	152222730	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TNFAIP6:NM_007115:exon3:c.C393T:p.H131H,;ANNO=splicing:TNFAIP6
2	152222731	.	G	A	100	PASS	AC=93;STUDIES=16;MAC=93;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TNFAIP6:NM_007115:exon3:c.G394A:p.A132T,;ANNO=splicing:TNFAIP6
2	152296641	.	G	T	100	PASS	AC=70;STUDIES=12;MAC=70;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RIF1:NM_001177664:exon15:c.G1647T:p.L549L,RIF1:NM_001177663:exon15:c.G1647T:p.L549L,RIF1:NM_001177665:exon14:c.G1647T:p.L549L,RIF1:NM_018151:exon15:c.G1647T:p.L549L,;ANNO=splicing:RIF1
2	152316514	.	A	G	100	PASS	AC=86;STUDIES=15;MAC=86;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RIF1:NM_001177664:exon26:c.A2956G:p.T986A,RIF1:NM_001177663:exon26:c.A2956G:p.T986A,RIF1:NM_001177665:exon25:c.A2956G:p.T986A,RIF1:NM_018151:exon26:c.A2956G:p.T986A,;ANNO=splicing:RIF1
2	152350675	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NEB:NM_001164507:exon174:c.G24579A:p.S8193S,NEB:NM_004543:exon141:c.G18975A:p.S6325S,NEB:NM_001164508:exon174:c.G24579A:p.S8193S,;ANNO=splicing:NEB
2	152363424	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NEB:NM_001164507:exon163:c.C23555T:p.S7852L,NEB:NM_004543:exon135:c.C18416T:p.S6139L,NEB:NM_001164508:exon163:c.C23555T:p.S7852L,;ANNO=splicing:NEB
2	152372974	.	C	T	100	PASS	AC=60;STUDIES=9;MAC=60;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NEB:NM_001164507:exon157:c.G22904A:p.G7635E,NEB:NM_004543:exon129:c.G17765A:p.G5922E,NEB:NM_001164508:exon157:c.G22904A:p.G7635E,;ANNO=splicing:NEB
2	152376170	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NEB(NM_004543:c.17451+2T>C,NM_001164508:c.22590+2T>C,NM_001164507:c.22590+2T>C)
2	152388306	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NEB:NM_001164507:exon144:c.T21522C:p.D7174D,NEB:NM_004543:exon116:c.T16383C:p.D5461D,NEB:NM_001164508:exon144:c.T21522C:p.D7174D,;ANNO=splicing:NEB
2	152388409	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NEB:NM_001164507:exon144:c.T21419C:p.I7140T,NEB:NM_004543:exon116:c.T16280C:p.I5427T,NEB:NM_001164508:exon144:c.T21419C:p.I7140T,;ANNO=splicing:NEB
2	152408252	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NEB:NM_001164507:exon129:c.G19944A:p.S6648S,NEB:NM_004543:exon101:c.G14805A:p.S4935S,NEB:NM_001164508:exon129:c.G19944A:p.S6648S,;ANNO=splicing:NEB
2	152410342	.	A	G	100	PASS	AC=28;STUDIES=11;MAC=28;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NEB:NM_001164507:exon126:c.T19626C:p.D6542D,NEB:NM_004543:exon98:c.T14487C:p.D4829D,NEB:NM_001164508:exon126:c.T19626C:p.D6542D,;ANNO=splicing:NEB
2	152420120	.	C	G	100	PASS	AC=81;STUDIES=9;MAC=81;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NEB:NM_001164507:exon119:c.G18693C:p.A6231A,NEB:NM_004543:exon91:c.G13554C:p.A4518A,NEB:NM_001164508:exon119:c.G18693C:p.A6231A,;ANNO=splicing:NEB
2	152482152	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NEB:NM_001164507:exon71:c.C10348T:p.R3450C,NEB:NM_004543:exon67:c.C9583T:p.R3195C,NEB:NM_001164508:exon71:c.C10348T:p.R3450C,;ANNO=splicing:NEB
2	152487332	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:NEB:NM_001164507:exon67:c.G9620A:p.R3207H,NEB:NM_004543:exon63:c.G8855A:p.R2952H,NEB:NM_001164508:exon67:c.G9620A:p.R3207H,;ANNO=splicing:NEB
2	152515683	.	G	A	100	PASS	AC=1242;STUDIES=21;MAC=1242;MAF=0.054;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NEB:NM_001164507:exon47:c.C5971T:p.H1991Y,NEB:NM_004543:exon47:c.C5971T:p.H1991Y,NEB:NM_001164508:exon47:c.C5971T:p.H1991Y,;ANNO=splicing:NEB
2	152522605	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NEB:NM_001164507:exon41:c.A5030G:p.D1677G,NEB:NM_004543:exon41:c.A5030G:p.D1677G,NEB:NM_001164508:exon41:c.A5030G:p.D1677G,;ANNO=splicing:NEB
2	152529193	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NEB:NM_001164507:exon37:c.A3989G:p.Y1330C,NEB:NM_004543:exon37:c.A3989G:p.Y1330C,NEB:NM_001164508:exon37:c.A3989G:p.Y1330C,;ANNO=splicing:NEB
2	152530992	.	T	G	100	PASS	AC=15;STUDIES=8;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NEB:NM_001164507:exon36:c.A3986C:p.D1329A,NEB:NM_004543:exon36:c.A3986C:p.D1329A,NEB:NM_001164508:exon36:c.A3986C:p.D1329A,;ANNO=splicing:NEB
2	152541488	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NEB:NM_001164507:exon28:c.G2639A:p.R880H,NEB:NM_004543:exon28:c.G2639A:p.R880H,NEB:NM_001164508:exon28:c.G2639A:p.R880H,;ANNO=splicing:NEB
2	152553151	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NEB:NM_001164507:exon17:c.C1569T:p.D523D,NEB:NM_004543:exon17:c.C1569T:p.D523D,NEB:NM_001164508:exon17:c.C1569T:p.D523D,;ANNO=splicing:NEB
2	152553971	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NEB:NM_001164507:exon15:c.A1258G:p.K420E,NEB:NM_004543:exon15:c.A1258G:p.K420E,NEB:NM_001164508:exon15:c.A1258G:p.K420E,;ANNO=splicing:NEB
2	152989998	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STAM2:NM_005843:exon9:c.C800T:p.A267V,;ANNO=splicing:STAM2
2	155099418	.	G	A	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GALNT13:NM_052917:exon6:c.G686A:p.R229K,;ANNO=splicing:GALNT13
2	158162341	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GALNT5:NM_014568:exon8:c.G2520A:p.E840E,;ANNO=splicing:GALNT5
2	158165079	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GALNT5:NM_014568:exon9:c.C2521T:p.L841F,;ANNO=splicing:GALNT5
2	158971771	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:UPP2:NM_001135098:exon5:c.T510C:p.S170S,UPP2:NM_173355:exon3:c.T339C:p.S113S,;ANNO=splicing:UPP2
2	159477634	.	G	T	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PKP4(NM_003628:c.412+1G>T,NM_001005476:c.412+1G>T)
2	159490803	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PKP4(NM_003628:c.1562+2C>T,NM_001005476:c.1562+2C>T)
2	159533252	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PKP4:NM_003628:exon20:c.C3129T:p.V1043V,;ANNO=splicing:PKP4
2	160128306	.	C	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WDSUB1:NM_152528:exon5:c.G677T:p.G226V,WDSUB1:NM_001128212:exon5:c.G677T:p.G226V,WDSUB1:NM_001128213:exon5:c.G677T:p.G226V,;ANNO=splicing:WDSUB1
2	160136458	.	T	C	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDSUB1(NM_001128213:c.398-2A>G,NM_152528:c.398-2A>G,NM_001128212:c.398-2A>G)
2	160676431	.	T	C	100	PASS	AC=40;STUDIES=6;MAC=40;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:LY75-CD302:NM_001198760:exon29:c.A3959G:p.N1320S,LY75-CD302:NM_001198759:exon29:c.A3959G:p.N1320S,LY75:NM_002349:exon29:c.A3959G:p.N1320S,;ANNO=splicing:LY75,LY75-CD302
2	160709785	.	G	A	100	PASS	AC=347;STUDIES=20;MAC=347;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LY75-CD302:NM_001198760:exon20:c.C2742T:p.I914I,LY75-CD302:NM_001198759:exon20:c.C2742T:p.I914I,LY75:NM_002349:exon20:c.C2742T:p.I914I,;ANNO=splicing:LY75,LY75-CD302
2	160711045	.	G	C	100	PASS	AC=10694;STUDIES=22;MAC=10694;MAF=0.443;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LY75-CD302:NM_001198760:exon18:c.C2421G:p.D807E,LY75-CD302:NM_001198759:exon18:c.C2421G:p.D807E,LY75:NM_002349:exon18:c.C2421G:p.D807E,;ANNO=splicing:LY75,LY75-CD302
2	160743040	.	T	A	100	PASS	AC=4773;STUDIES=21;MAC=4773;MAF=0.212;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:LY75-CD302:NM_001198760:exon5:c.A804T:p.E268D,LY75-CD302:NM_001198759:exon5:c.A804T:p.E268D,LY75:NM_002349:exon5:c.A804T:p.E268D,;ANNO=splicing:LY75,LY75-CD302
2	160803929	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLA2R1(NM_001195641:c.3850+1G>A,NM_007366:c.3850+1G>A,NM_001007267:c.3850+1G>A)
2	160811709	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLA2R1(NM_001195641:c.3301+1G>A,NM_007366:c.3301+1G>A,NM_001007267:c.3301+1G>A)
2	160812208	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLA2R1(NM_001195641:c.3153+1G>A,NM_007366:c.3153+1G>A,NM_001007267:c.3153+1G>A)
2	160826660	.	G	A	100	PASS	AC=15;STUDIES=11;MAC=15;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLA2R1:NM_007366:exon18:c.C2659T:p.R887C,PLA2R1:NM_001007267:exon18:c.C2659T:p.R887C,PLA2R1:NM_001195641:exon18:c.C2659T:p.R887C,;ANNO=splicing:PLA2R1
2	160832736	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLA2R1:NM_007366:exon17:c.A2438G:p.D813G,PLA2R1:NM_001007267:exon17:c.A2438G:p.D813G,PLA2R1:NM_001195641:exon17:c.A2438G:p.D813G,;ANNO=splicing:PLA2R1
2	160832738	.	T	C	100	PASS	AC=59;STUDIES=5;MAC=59;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLA2R1(NM_001195641:c.2437-2A>G,NM_007366:c.2437-2A>G,NM_001007267:c.2437-2A>G)
2	160840584	.	C	A	100	PASS	AC=52;STUDIES=11;MAC=52;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLA2R1:NM_007366:exon13:c.G2038T:p.V680L,PLA2R1:NM_001007267:exon13:c.G2038T:p.V680L,PLA2R1:NM_001195641:exon13:c.G2038T:p.V680L,;ANNO=splicing:PLA2R1
2	160862163	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLA2R1:NM_007366:exon11:c.C1834T:p.R612C,PLA2R1:NM_001007267:exon11:c.C1834T:p.R612C,PLA2R1:NM_001195641:exon11:c.C1834T:p.R612C,;ANNO=splicing:PLA2R1
2	160958347	.	T	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITGB6(NM_000888:c.2268-2A>C)
2	160964191	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITGB6:NM_000888:exon14:c.C2267T:p.T756M,;ANNO=splicing:ITGB6
2	160982891	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ITGB6:NM_000888:exon11:c.C1882T:p.R628W,;ANNO=splicing:ITGB6
2	160998581	.	T	G	100	PASS	AC=39;STUDIES=5;MAC=39;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITGB6:NM_000888:exon8:c.A1019C:p.N340T,;ANNO=splicing:ITGB6
2	162903426	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DPP4:NM_001935:exon4:c.T284C:p.F95S,;ANNO=splicing:DPP4
2	162904013	.	T	C	100	PASS	AC=633;STUDIES=17;MAC=633;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DPP4(NM_001935:c.94-2A>G)
2	163030296	.	C	T	100	PASS	AC=40;STUDIES=10;MAC=40;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FAP:NM_004460:exon23:c.G1971A:p.A657A,;ANNO=splicing:FAP
2	163031377	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAP:NM_004460:exon22:c.G1969A:p.A657T,;ANNO=splicing:FAP
2	163031378	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FAP:NM_004460:exon22:c.C1968T:p.Y656Y,;ANNO=splicing:FAP
2	163057129	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FAP:NM_004460:exon15:c.G1224A:p.L408L,;ANNO=splicing:FAP
2	163124596	.	C	T	100	PASS	AC=98;STUDIES=15;MAC=98;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IFIH1(NM_022168:c.2807+1G>A)
2	163128896	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IFIH1:NM_022168:exon13:c.C2456A:p.A819D,;ANNO=splicing:IFIH1
2	163133926	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IFIH1:NM_022168:exon10:c.T2043C:p.F681F,;ANNO=splicing:IFIH1
2	163134203	.	G	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IFIH1:NM_022168:exon10:c.C1766A:p.A589D,;ANNO=splicing:IFIH1
2	163136505	.	C	G	100	PASS	AC=166;STUDIES=15;MAC=166;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IFIH1(NM_022168:c.1641+1G>C)
2	163139085	.	A	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IFIH1:NM_022168:exon6:c.T1097A:p.V366E,;ANNO=splicing:IFIH1
2	163167444	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IFIH1(NM_022168:c.453-1G>T)
2	163236530	.	A	G	100	PASS	AC=46;STUDIES=5;MAC=46;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KCNH7:NM_033272:exon14:c.T2964C:p.D988D,;ANNO=splicing:KCNH7
2	163302953	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KCNH7:NM_173162:exon6:c.G1108T:p.V370F,KCNH7:NM_033272:exon7:c.G1129T:p.V377F,;ANNO=splicing:KCNH7
2	165350941	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GRB14:NM_004490:exon13:c.A1476G:p.P492P,;ANNO=splicing:GRB14
2	165353792	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GRB14:NM_004490:exon11:c.A1223G:p.K408R,;ANNO=splicing:GRB14
2	166611442	.	G	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GALNT3:NM_004482:exon8:c.C1524T:p.Y508Y,;ANNO=splicing:GALNT3
2	166758420	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TTC21B:NM_024753:exon20:c.G2569A:p.A857T,;ANNO=splicing:TTC21B
2	166773990	.	A	C	100	PASS	AC=24;STUDIES=5;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TTC21B:NM_024753:exon14:c.T1676G:p.V559G,;ANNO=splicing:TTC21B
2	166781188	.	G	A	100	PASS	AC=162;STUDIES=6;MAC=162;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TTC21B:NM_024753:exon12:c.C1387T:p.P463S,;ANNO=splicing:TTC21B
2	167094604	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:SCN9A:NM_002977:exon20:c.T3768C:p.D1256D,;ANNO=splicing:SCN9A
2	167145152	.	G	A	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCN9A:NM_002977:exon10:c.C1109T:p.T370M,;ANNO=splicing:SCN9A
2	167163583	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SCN9A:NM_002977:exon3:c.C260A:p.T87N,;ANNO=splicing:SCN9A
2	167263155	.	T	A	100	PASS	AC=333;STUDIES=9;MAC=333;MAF=0.038;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SCN7A:NM_002976:exon25:c.A3984T:p.G1328G,;ANNO=splicing:SCN7A
2	167266447	.	T	C	100	PASS	AC=190;STUDIES=12;MAC=190;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SCN7A(NM_002976:c.3711-2A>G)
2	167304217	.	G	T	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCN7A:NM_002976:exon11:c.C1292A:p.A431D,;ANNO=splicing:SCN7A
2	168041152	.	T	C	100	PASS	AC=213;STUDIES=2;MAC=213;MAF=0.081;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:XIRP2(NM_001199143:c.661+2T>C)
2	168931619	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:STK39:NM_013233:exon11:c.G1212A:p.K404K,;ANNO=splicing:STK39
2	169659107	.	C	T	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:NOSTRIN
2	169801116	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCB11:NM_003742:exon21:c.G2609T:p.G870V,;ANNO=splicing:ABCB11
2	169853145	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ABCB11:NM_003742:exon6:c.A477G:p.Q159Q,;ANNO=splicing:ABCB11
2	169952053	.	G	C	100	PASS	AC=17;STUDIES=9;MAC=17;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DHRS9(NM_005771:c.736-1G>C,NM_199204:c.736-1G>C,NM_001142270:c.736-1G>C,NM_001142271:c.736-1G>C)
2	170088351	.	G	A	100	PASS	AC=3491;STUDIES=22;MAC=3491;MAF=0.145;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LRP2:NM_004525:exon31:c.C5100T:p.S1700S,;ANNO=splicing:LRP2
2	170175394	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRP2:NM_004525:exon3:c.C188T:p.A63V,;ANNO=splicing:LRP2
2	170354138	.	G	A	100	PASS	AC=155;STUDIES=17;MAC=155;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BBS5:NM_152384:exon8:c.G620A:p.R207H,;ANNO=splicing:BBS5
2	170387098	.	T	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FASTKD1:NM_024622:exon14:c.A2441G:p.Q814R,;ANNO=splicing:FASTKD1
2	170393737	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FASTKD1:NM_024622:exon12:c.G2188A:p.D730N,;ANNO=splicing:FASTKD1
2	170441001	.	G	A	100	PASS	AC=470;STUDIES=3;MAC=470;MAF=0.143;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PPIG
2	170460536	.	A	C	100	PASS	AC=152;STUDIES=4;MAC=152;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:PPIG
2	170463657	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PPIG:NM_004792:exon6:c.A288G:p.E96E,;ANNO=splicing:PPIG
2	170465182	.	C	T	100	PASS	AC=35;STUDIES=3;MAC=35;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PPIG:NM_004792:exon7:c.C291T:p.D97D,;ANNO=splicing:PPIG
2	170789517	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UBR3:NM_172070:exon19:c.T2662C:p.F888L,;ANNO=splicing:UBR3
2	170857923	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UBR3:NM_172070:exon27:c.G4028A:p.R1343Q,;ANNO=splicing:UBR3
2	170917590	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UBR3:NM_172070:exon34:c.G4787A:p.S1596N,;ANNO=splicing:UBR3
2	171257991	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO3B:NM_001171642:exon18:c.C1919T:p.A640V,MYO3B:NM_001083615:exon18:c.C1919T:p.A640V,MYO3B:NM_138995:exon18:c.C1919T:p.A640V,;ANNO=splicing:MYO3B
2	171260910	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO3B:NM_001171642:exon20:c.G2431T:p.D811Y,MYO3B:NM_001083615:exon20:c.G2431T:p.D811Y,MYO3B:NM_138995:exon20:c.G2431T:p.D811Y,;ANNO=splicing:MYO3B
2	171508618	.	G	A	100	PASS	AC=24;STUDIES=5;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYO3B:NM_001083615:exon33:c.G3760A:p.G1254R,MYO3B:NM_138995:exon34:c.G3841A:p.G1281R,;ANNO=splicing:MYO3B
2	172926226	.	G	T	100	PASS	AC=642;STUDIES=19;MAC=642;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:METAP1D:NM_199227:exon2:c.G41T:p.G14V,;ANNO=splicing:METAP1D
2	173429231	.	C	A	100	PASS	AC=21;STUDIES=4;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PDK1:NM_002610:exon4:c.C411A:p.D137E,;ANNO=splicing:PDK1
2	173679008	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RAPGEF4:NM_007023:exon4:c.A299G:p.D100G,;ANNO=splicing:RAPGEF4
2	173787027	.	A	C	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RAPGEF4:NM_007023:exon6:c.A536C:p.N179T,RAPGEF4:NM_001100397:exon3:c.A104C:p.N35T,;ANNO=splicing:RAPGEF4
2	173913329	.	G	A	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RAPGEF4:NM_007023:exon30:c.G2855A:p.R952H,RAPGEF4:NM_001100397:exon27:c.G2423A:p.R808H,;ANNO=splicing:RAPGEF4
2	174052350	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZAK:NM_016653:exon5:c.C414T:p.N138N,ZAK:NM_133646:exon5:c.C414T:p.N138N,;ANNO=splicing:ZAK
2	174783513	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SP3:NM_001172712:exon5:c.A1631G:p.D544G,SP3:NM_001017371:exon3:c.A1436G:p.D479G,SP3:NM_003111:exon5:c.A1640G:p.D547G,;ANNO=splicing:SP3
2	175263171	.	G	T	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SCRN3(NM_024583:c.159+1G>T,NM_001193528:c.138+1G>T)
2	175264651	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SCRN3:NM_024583:exon3:c.G161A:p.C54Y,SCRN3:NM_001193528:exon3:c.G140A:p.C47Y,;ANNO=splicing:SCRN3
2	175311474	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GPR155:NM_001033045:exon13:c.C1878A:p.N626K,GPR155:NM_152529:exon12:c.C1878A:p.N626K,;ANNO=splicing:GPR155
2	175614896	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CHRNA1:NM_000079:exon7:c.G780A:p.G260G,CHRNA1:NM_001039523:exon8:c.G855A:p.G285G,;ANNO=splicing:CHRNA1
2	175962173	.	G	A	100	PASS	AC=22;STUDIES=11;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ATF2:NM_001880:exon11:c.C977T:p.P326L,;ANNO=splicing:ATF2
2	176965102	.	C	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HOXD12:NM_021193:exon1:c.C573A:p.D191E,;ANNO=splicing:HOXD12
2	178528676	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDE11A:NM_001077196:exon16:c.C1232A:p.A411E,PDE11A:NM_001077197:exon20:c.C1814A:p.A605E,PDE11A:NM_016953:exon19:c.C2564A:p.A855E,PDE11A:NM_001077358:exon18:c.C1490A:p.A497E,;ANNO=splicing:PDE11A
2	178634101	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:PDE11A:NM_001077196:exon7:c.G406T:p.V136L,PDE11A:NM_001077197:exon11:c.G988T:p.V330L,PDE11A:NM_016953:exon10:c.G1738T:p.V580L,PDE11A:NM_001077358:exon9:c.G664T:p.V222L,;ANNO=nonsynonymous:PDE11A:NM_001077196:exon7:c.G406A:p.V136M,PDE11A:NM_001077197:exon11:c.G988A:p.V330M,PDE11A:NM_016953:exon10:c.G1738A:p.V580M,PDE11A:NM_001077358:exon9:c.G664A:p.V222M,;ANNO=splicing:PDE11A;ANNO=splicing:PDE11A
2	179300871	.	C	T	100	PASS	AC=120;STUDIES=2;MAC=120;MAF=0.053;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRKRA(NM_001139518:c.709+1G>A,NM_001139517:c.751+1G>A,NM_003690:c.784+1G>A)
2	179307992	.	A	T	100	PASS	AC=147;STUDIES=2;MAC=147;MAF=0.075;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=1;ANNO=splicing:PRKRA(NM_001139518:c.439+2T>A,NM_001139517:c.481+2T>A,NM_003690:c.514+2T>A)
2	179309147	.	A	T	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRKRA(NM_001139518:c.321+2T>A,NM_001139517:c.363+2T>A,NM_003690:c.396+2T>A)
2	179315692	.	C	A	100	PASS	AC=177;STUDIES=2;MAC=177;MAF=0.264;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;HWE_FAILURES=1;ANNO=splicing:PRKRA(NM_003690:c.65+1G>T)
2	179341790	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FKBP7:NM_181342:exon2:c.T372C:p.Y124Y,FKBP7:NM_001135212:exon2:c.T372C:p.Y124Y,;ANNO=splicing:FKBP7
2	179407675	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TTN:NM_003319:exon176:c.G69711A:p.V23237V,TTN:NM_133432:exon177:c.G70086A:p.V23362V,TTN:NM_133437:exon177:c.G70287A:p.V23429V,TTN:NM_133378:exon297:c.G89202A:p.V29734V,;ANNO=splicing:TTN
2	179410115	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TTN:NM_003319:exon172:c.T68527C:p.Y22843H,TTN:NM_133432:exon173:c.T68902C:p.Y22968H,TTN:NM_133437:exon173:c.T69103C:p.Y23035H,TTN:NM_133378:exon293:c.T88018C:p.Y29340H,;ANNO=splicing:TTN
2	179414298	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TTN:NM_003319:exon166:c.T64956C:p.Y21652Y,TTN:NM_133432:exon167:c.T65331C:p.Y21777Y,TTN:NM_133437:exon167:c.T65532C:p.Y21844Y,TTN:NM_133378:exon287:c.T84447C:p.Y28149Y,;ANNO=splicing:TTN
2	179442329	.	C	T	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TTN:NM_003319:exon151:c.G41629A:p.E13877K,TTN:NM_133432:exon152:c.G42004A:p.E14002K,TTN:NM_133437:exon152:c.G42205A:p.E14069K,TTN:NM_133378:exon272:c.G61120A:p.E20374K,;ANNO=splicing:TTN
2	179442330	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TTN:NM_003319:exon151:c.C41628T:p.Y13876Y,TTN:NM_133432:exon152:c.C42003T:p.Y14001Y,TTN:NM_133437:exon152:c.C42204T:p.Y14068Y,TTN:NM_133378:exon272:c.C61119T:p.Y20373Y,;ANNO=splicing:TTN
2	179444289	.	A	G	100	PASS	AC=550;STUDIES=19;MAC=550;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TTN:NM_003319:exon147:c.T40440C:p.V13480V,TTN:NM_133432:exon148:c.T40815C:p.V13605V,TTN:NM_133437:exon148:c.T41016C:p.V13672V,TTN:NM_133378:exon268:c.T59931C:p.V19977V,;ANNO=splicing:TTN
2	179469715	.	A	G	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TTN:NM_003319:exon108:c.T26994C:p.Y8998Y,TTN:NM_133432:exon109:c.T27369C:p.Y9123Y,TTN:NM_133437:exon109:c.T27570C:p.Y9190Y,TTN:NM_133378:exon229:c.T46485C:p.Y15495Y,;ANNO=splicing:TTN
2	179480210	.	C	T	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TTN:NM_003319:exon87:c.G21267A:p.T7089T,TTN:NM_133432:exon88:c.G21642A:p.T7214T,TTN:NM_133437:exon88:c.G21843A:p.T7281T,TTN:NM_133378:exon208:c.G40758A:p.T13586T,;ANNO=splicing:TTN
2	179482807	.	A	G	100	PASS	AC=41;STUDIES=4;MAC=41;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TTN:NM_003319:exon81:c.T20076C:p.D6692D,TTN:NM_133432:exon82:c.T20451C:p.D6817D,TTN:NM_133437:exon82:c.T20652C:p.D6884D,TTN:NM_133378:exon202:c.T39567C:p.D13189D,;ANNO=splicing:TTN
2	179494968	.	G	A	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TTN:NM_003319:exon67:c.C17086T:p.P5696S,TTN:NM_133432:exon68:c.C17461T:p.P5821S,TTN:NM_133437:exon68:c.C17662T:p.P5888S,TTN:NM_133378:exon188:c.C36577T:p.P12193S,;ANNO=splicing:TTN
2	179554624	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTN(NM_133378:c.28030-1G>A)
2	179572540	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TTN:NM_133378:exon97:c.A25022G:p.E8341G,;ANNO=splicing:TTN
2	179582537	.	G	T	100	PASS	AC=4167;STUDIES=18;MAC=4167;MAF=0.238;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:TTN:NM_133378:exon84:c.C21332A:p.A7111E,;ANNO=splicing:TTN
2	179620947	.	A	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:TTN(NM_133437:c.10741+2T>C)
2	179647533	.	C	T	100	PASS	AC=30;STUDIES=7;MAC=30;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TTN:NM_133379:exon18:c.G3100A:p.V1034M,TTN:NM_003319:exon17:c.G2962A:p.V988M,TTN:NM_133432:exon17:c.G2962A:p.V988M,TTN:NM_133437:exon17:c.G2962A:p.V988M,TTN:NM_133378:exon18:c.G3100A:p.V1034M,;ANNO=splicing:TTN
2	179659127	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TTN:NM_133379:exon8:c.A1397G:p.Q466R,TTN:NM_003319:exon8:c.A1397G:p.Q466R,TTN:NM_133432:exon8:c.A1397G:p.Q466R,TTN:NM_133437:exon8:c.A1397G:p.Q466R,TTN:NM_133378:exon8:c.A1397G:p.Q466R,;ANNO=splicing:TTN
2	182347378	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ITGA4:NM_000885:exon9:c.G1041A:p.S347S,;ANNO=splicing:ITGA4
2	182374534	.	A	G	100	PASS	AC=9513;STUDIES=18;MAC=7295;MAF=0.434;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=4;ANNO=synonymous:ITGA4:NM_000885:exon16:c.A1845G:p.T615T,;ANNO=splicing:ITGA4
2	182399097	.	T	C	100	PASS	AC=9959;STUDIES=19;MAC=7461;MAF=0.428;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=3;ANNO=synonymous:ITGA4:NM_000885:exon26:c.T2883C:p.H961H,;ANNO=splicing:ITGA4
2	182438610	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CERKL:NM_201548:exon3:c.C483G:p.G161G,CERKL:NM_001030313:exon3:c.C483G:p.G161G,CERKL:NM_001030311:exon3:c.C483G:p.G161G,;ANNO=splicing:CERKL
2	182760757	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SSFA2:NM_006751:exon3:c.T258C:p.R86R,SSFA2:NM_001130445:exon3:c.T258C:p.R86R,;ANNO=splicing:SSFA2
2	182928520	.	T	C	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PPP1R1C(NM_001080545:c.241+2T>C)
2	187466749	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITGAV:NM_001144999:exon2:c.C49T:p.R17W,ITGAV:NM_002210:exon2:c.C187T:p.R63W,ITGAV:NM_001145000:exon2:c.C187T:p.R63W,;ANNO=splicing:ITGAV
2	187540444	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ITGAV:NM_001144999:exon27:c.T2682A:p.N894K,ITGAV:NM_002210:exon27:c.T2820A:p.N940K,ITGAV:NM_001145000:exon25:c.T2712A:p.N904K,;ANNO=splicing:ITGAV
2	187709483	.	C	T	100	PASS	AC=55;STUDIES=7;MAC=55;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZSWIM2:NM_182521:exon3:c.G244A:p.V82I,;ANNO=splicing:ZSWIM2
2	188348943	.	G	A	100	PASS	AC=41;STUDIES=16;MAC=41;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TFPI:NM_006287:exon6:c.C536T:p.P179L,TFPI:NM_001032281:exon6:c.C536T:p.P179L,;ANNO=splicing:TFPI
2	188368497	.	T	A	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:TFPI
2	189448992	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GULP1:NM_016315:exon10:c.G610A:p.A204T,;ANNO=splicing:GULP1
2	189910527	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL5A2:NM_000393:exon46:c.C3308T:p.P1103L,;ANNO=splicing:COL5A2
2	189918622	.	G	A	100	PASS	AC=466;STUDIES=21;MAC=466;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL5A2:NM_000393:exon37:c.C2498T:p.P833L,;ANNO=splicing:COL5A2
2	189927592	.	G	A	100	PASS	AC=16;STUDIES=9;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL5A2:NM_000393:exon29:c.C1976T:p.P659L,;ANNO=splicing:COL5A2
2	189931456	.	G	T	100	PASS	AC=21;STUDIES=3;MAC=21;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL5A2:NM_000393:exon22:c.C1454A:p.P485Q,;ANNO=splicing:COL5A2
2	189932742	.	G	A	100	PASS	AC=141;STUDIES=8;MAC=141;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL5A2:NM_000393:exon21:c.C1400T:p.P467L,;ANNO=splicing:COL5A2
2	189932953	.	G	A	100	PASS	AC=37;STUDIES=11;MAC=37;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL5A2:NM_000393:exon20:c.C1301T:p.T434M,;ANNO=splicing:COL5A2
2	190320047	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:WDR75:NM_032168:exon5:c.T375A:p.D125E,;ANNO=splicing:WDR75
2	190320169	.	A	T	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WDR75:NM_032168:exon5:c.A497T:p.E166V,;ANNO=splicing:WDR75
2	190331307	.	C	T	100	PASS	AC=211;STUDIES=8;MAC=211;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:WDR75:NM_032168:exon13:c.C1446T:p.Y482Y,;ANNO=splicing:WDR75
2	190437572	.	G	A	100	PASS	AC=440;STUDIES=10;MAC=440;MAF=0.035;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC40A1:NM_014585:exon4:c.C387T:p.L129L,;ANNO=splicing:SLC40A1
2	190575775	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ANKAR:NM_144708:exon10:c.A2120C:p.E707A,;ANNO=splicing:ANKAR
2	190728953	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PMS1:NM_000534:exon10:c.A2341G:p.S781G,PMS1:NM_001128143:exon9:c.A2224G:p.S742G,;ANNO=splicing:PMS1
2	190925160	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MSTN:NM_005259:exon2:c.T375A:p.S125S,;ANNO=splicing:MSTN
2	191110879	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HIBCH(NM_198047:c.809+1G>A,NM_014362:c.809+1G>A)
2	191550364	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NAB1:NM_005966:exon8:c.G1258A:p.G420R,;ANNO=splicing:NAB1
2	191839658	.	A	C	100	PASS	AC=56;STUDIES=5;MAC=56;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:STAT1:NM_007315:exon24:c.T2136G:p.V712V,;ANNO=splicing:STAT1
2	191843583	.	G	A	100	PASS	AC=22;STUDIES=11;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:STAT1:NM_007315:exon21:c.C1872T:p.G624G,STAT1:NM_139266:exon21:c.C1872T:p.G624G,;ANNO=splicing:STAT1
2	191904022	.	G	A	100	PASS	AC=14;STUDIES=8;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STAT4:NM_003151:exon16:c.C1337T:p.T446I,;ANNO=splicing:STAT4
2	192255018	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MYO1B:NM_012223:exon18:c.G1782A:p.R594R,MYO1B:NM_001130158:exon18:c.G1782A:p.R594R,MYO1B:NM_001161819:exon18:c.G1782A:p.R594R,;ANNO=splicing:MYO1B
2	196571341	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC39A10:NM_001127257:exon4:c.C1218T:p.A406A,SLC39A10:NM_020342:exon4:c.C1218T:p.A406A,;ANNO=splicing:SLC39A10
2	196746520	.	G	A	100	PASS	AC=12;STUDIES=7;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAH7:NM_018897:exon36:c.C5960T:p.T1987M,;ANNO=splicing:DNAH7
2	197194373	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HECW2:NM_020760:exon5:c.T497C:p.M166T,;ANNO=splicing:HECW2
2	197208381	.	G	A	100	PASS	AC=68;STUDIES=8;MAC=68;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HECW2:NM_020760:exon3:c.C400T:p.P134S,;ANNO=splicing:HECW2
2	197523583	.	A	C	100	PASS	AC=19;STUDIES=5;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC150:NM_001080539:exon5:c.A644C:p.E215A,;ANNO=splicing:CCDC150
2	197585299	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CCDC150:NM_001080539:exon20:c.G2166A:p.R722R,;ANNO=splicing:CCDC150
2	197709298	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PGAP1:NM_024989:exon24:c.G2287A:p.V763I,;ANNO=splicing:PGAP1
2	197711924	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PGAP1:NM_024989:exon22:c.G1953A:p.G651G,;ANNO=splicing:PGAP1
2	198355019	.	G	C	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:HSPD1:NM_002156:exon8:c.C871G:p.L291V,HSPD1:NM_199440:exon8:c.C871G:p.L291V,;ANNO=splicing:HSPD1
2	201457927	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AOX1(NM_001159:c.103+1G>A)
2	201478527	.	G	A	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AOX1:NM_001159:exon15:c.G1449A:p.R483R,;ANNO=splicing:AOX1
2	201505907	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AOX1:NM_001159:exon24:c.C2655T:p.F885F,;ANNO=splicing:AOX1
2	202006096	.	G	A	100	PASS	AC=2062;STUDIES=10;MAC=2062;MAF=0.209;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CFLAR(NM_001127184:c.606-1G>A)
2	202010101	.	C	A	100	PASS	AC=268;STUDIES=13;MAC=268;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CFLAR:NM_001202517:exon5:c.C319A:p.L107I,CFLAR:NM_001127183:exon6:c.C607A:p.L203I,CFLAR:NM_001202518:exon4:c.C319A:p.L107I,CFLAR:NM_003879:exon6:c.C607A:p.L203I,CFLAR:NM_001202519:exon5:c.C319A:p.L107I,;ANNO=splicing:CFLAR
2	202060670	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CASP10:NM_001206524:exon5:c.C683T:p.P228L,CASP10:NM_032974:exon5:c.C683T:p.P228L,CASP10:NM_001206542:exon5:c.C683T:p.P228L,CASP10:NM_032976:exon5:c.C683T:p.P228L,CASP10:NM_032977:exon5:c.C683T:p.P228L,CASP10:NM_001230:exon5:c.C683T:p.P228L,;ANNO=splicing:CASP10
2	202343324	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:STRADB:NM_001206864:exon10:c.G1070C:p.R357T,STRADB:NM_018571:exon10:c.G1070C:p.R357T,;ANNO=splicing:STRADB
2	202410344	.	C	T	100	PASS	AC=28;STUDIES=3;MAC=28;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALS2CR11:NM_152525:exon11:c.G1084A:p.E362K,ALS2CR11:NM_001168216:exon11:c.G1084A:p.E362K,ALS2CR11:NM_001168217:exon11:c.G1084A:p.E362K,ALS2CR11:NM_001168221:exon11:c.G1084A:p.E362K,;ANNO=splicing:ALS2CR11
2	202469419	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ALS2CR11:NM_152525:exon2:c.T233A:p.M78K,ALS2CR11:NM_001168216:exon2:c.T233A:p.M78K,ALS2CR11:NM_001168217:exon2:c.T233A:p.M78K,ALS2CR11:NM_001168221:exon2:c.T233A:p.M78K,;ANNO=splicing:ALS2CR11
2	202483624	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ALS2CR11:NM_152525:exon1:c.A230G:p.N77S,ALS2CR11:NM_001168216:exon1:c.A230G:p.N77S,ALS2CR11:NM_001168217:exon1:c.A230G:p.N77S,ALS2CR11:NM_001168221:exon1:c.A230G:p.N77S,;ANNO=splicing:ALS2CR11
2	202492871	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TMEM237:NM_001044385:exon9:c.A871G:p.I291V,TMEM237:NM_152388:exon9:c.A847G:p.I283V,;ANNO=splicing:TMEM237
2	202590176	.	A	C	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALS2:NM_020919:exon20:c.T3250G:p.Y1084D,;ANNO=splicing:ALS2
2	202591936	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ALS2:NM_020919:exon17:c.A2978C:p.K993T,;ANNO=splicing:ALS2
2	202593775	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ALS2:NM_020919:exon14:c.G2712A:p.T904T,;ANNO=splicing:ALS2
2	202606398	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ALS2:NM_020919:exon11:c.G2350A:p.E784K,;ANNO=splicing:ALS2
2	202617965	.	C	T	100	PASS	AC=14;STUDIES=10;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ALS2:NM_020919:exon7:c.G1641A:p.R547R,;ANNO=splicing:ALS2
2	202622481	.	G	C	100	PASS	AC=32;STUDIES=10;MAC=32;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALS2:NM_020919:exon5:c.C1115G:p.P372R,;ANNO=splicing:ALS2
2	202700365	.	G	A	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDK15(NM_139158:c.577-1G>A)
2	202719597	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CDK15:NM_139158:exon10:c.G793A:p.V265M,;ANNO=splicing:CDK15
2	202744892	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDK15(NM_139158:c.1045+2T>C)
2	203139911	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NOP58:NM_015934:exon2:c.A121G:p.I41V,;ANNO=splicing:NOP58
2	203417610	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BMPR2:NM_001204:exon11:c.C1585T:p.R529C,;ANNO=splicing:BMPR2
2	203620403	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM117B:NM_173511:exon5:c.T1103C:p.I368T,;ANNO=splicing:FAM117B
2	203621937	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM117B:NM_173511:exon6:c.C1106T:p.P369L,;ANNO=splicing:FAM117B
2	203622162	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM117B(NM_173511:c.1330+1G>A)
2	203676470	.	T	G	100	PASS	AC=57;STUDIES=6;MAC=57;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ICA1L:NM_138468:exon10:c.A909C:p.Q303H,;ANNO=splicing:ICA1L
2	203680632	.	A	G	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ICA1L(NM_138468:c.783+2T>C)
2	203818856	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALS2CR8:NM_001104586:exon6:c.G556A:p.G186R,ALS2CR8:NM_024744:exon7:c.G556A:p.G186R,;ANNO=splicing:ALS2CR8
2	203831821	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ALS2CR8:NM_001104586:exon9:c.G953A:p.R318Q,ALS2CR8:NM_024744:exon10:c.G953A:p.R318Q,;ANNO=splicing:ALS2CR8
2	203839218	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALS2CR8:NM_001104586:exon12:c.C1493T:p.T498M,ALS2CR8:NM_024744:exon13:c.C1493T:p.T498M,;ANNO=splicing:ALS2CR8
2	204062116	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NBEAL1(NM_001114132:c.7041+2T>C)
2	204064061	.	A	G	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NBEAL1:NM_001114132:exon48:c.A7042G:p.I2348V,;ANNO=splicing:NBEAL1
2	204066437	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NBEAL1:NM_001114132:exon49:c.G7323A:p.M2441I,;ANNO=splicing:NBEAL1
2	204067408	.	A	G	100	PASS	AC=17;STUDIES=7;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NBEAL1(NM_001114132:c.7324-2A>G)
2	204116690	.	C	T	100	PASS	AC=22380;STUDIES=22;MAC=1842;MAF=0.076;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CYP20A1:NM_177538:exon4:c.C290T:p.S97L,;ANNO=splicing:CYP20A1
2	204267456	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABI2:NM_005759:exon7:c.A990G:p.P330P,;ANNO=splicing:ABI2
2	204359957	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RAPH1:NM_203365:exon2:c.G120A:p.Q40Q,RAPH1:NM_213589:exon2:c.G120A:p.Q40Q,;ANNO=splicing:RAPH1
2	206050488	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PARD3B:NM_057177:exon14:c.G1925A:p.G642D,PARD3B:NM_152526:exon13:c.G1739A:p.G580D,PARD3B:NM_205863:exon14:c.G1925A:p.G642D,;ANNO=splicing:PARD3B
2	206911228	.	G	A	100	PASS	AC=6873;STUDIES=20;MAC=6873;MAF=0.323;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:INO80D:NM_017759:exon5:c.C1073T:p.A358V,;ANNO=splicing:INO80D
2	207345957	.	C	G	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAM23:NM_003812:exon3:c.C434G:p.A145G,;ANNO=splicing:ADAM23
2	207459461	.	T	C	100	PASS	AC=43;STUDIES=5;MAC=43;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ADAM23:NM_003812:exon23:c.T2079C:p.S693S,;ANNO=splicing:ADAM23
2	207603234	.	T	G	100	PASS	AC=5033;STUDIES=20;MAC=5033;MAF=0.226;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:MDH1B:NM_001039845:exon12:c.A1530C:p.E510D,;ANNO=splicing:MDH1B
2	209010499	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CRYGB:NM_005210:exon2:c.C251T:p.P84L,;ANNO=splicing:CRYGB
2	209036712	.	T	C	100	PASS	AC=21926;STUDIES=22;MAC=2322;MAF=0.096;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C2orf80:NM_001099334:exon7:c.A454G:p.S152G,;ANNO=splicing:C2orf80
2	209051669	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C2orf80(NM_001099334:c.41+1G>A)
2	209212748	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PIKFYVE(NM_015040:c.5374+1G>T)
2	209271844	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PTH2R(NM_005048:c.75+1G>A)
2	209308074	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:PTH2R:NM_005048:exon6:c.C511T:p.R171X,;ANNO=splicing:PTH2R
2	209315474	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PTH2R:NM_005048:exon8:c.G854T:p.G285V,;ANNO=splicing:PTH2R
2	210637818	.	T	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UNC80:NM_182587:exon2:c.T93G:p.S31R,UNC80:NM_032504:exon2:c.T93G:p.S31R,;ANNO=splicing:UNC80
2	210640771	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UNC80(NM_182587:c.298+2T>C,NM_032504:c.298+2T>C)
2	210840844	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:UNC80:NM_182587:exon56:c.G8376A:p.A2792A,UNC80:NM_032504:exon56:c.G8391A:p.A2797A,;ANNO=splicing:UNC80
2	211168267	.	A	G	100	PASS	AC=28;STUDIES=4;MAC=28;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYL1:NM_079422:exon1:c.T2C:p.M1T,;ANNO=splicing:MYL1
2	211320037	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LANCL1:NM_001136574:exon4:c.T201G:p.G67G,LANCL1:NM_006055:exon4:c.T201G:p.G67G,LANCL1:NM_001136575:exon4:c.T201G:p.G67G,;ANNO=splicing:LANCL1
2	211454831	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CPS1:NM_001875:exon8:c.G713A:p.R238Q,CPS1:NM_001122633:exon9:c.G731A:p.R244Q,;ANNO=splicing:CPS1
2	211539685	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CPS1:NM_001122634:exon25:c.G2808A:p.K936K,CPS1:NM_001875:exon35:c.G4161A:p.K1387K,CPS1:NM_001122633:exon36:c.G4179A:p.K1393K,;ANNO=splicing:CPS1
2	212488647	.	T	C	100	PASS	AC=50;STUDIES=7;MAC=50;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ERBB4:NM_005235:exon18:c.A2202G:p.K734K,ERBB4:NM_001042599:exon18:c.A2202G:p.K734K,;ANNO=splicing:ERBB4
2	212587118	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ERBB4:NM_005235:exon7:c.C883T:p.H295Y,ERBB4:NM_001042599:exon7:c.C883T:p.H295Y,;ANNO=splicing:ERBB4
2	212587119	.	T	C	100	PASS	AC=89;STUDIES=17;MAC=89;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ERBB4:NM_005235:exon7:c.A882G:p.P294P,ERBB4:NM_001042599:exon7:c.A882G:p.P294P,;ANNO=splicing:ERBB4
2	213872807	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IKZF2:NM_016260:exon8:c.G858A:p.G286G,IKZF2:NM_001079526:exon9:c.G780A:p.G260G,;ANNO=splicing:IKZF2
2	214013321	.	C	T	100	PASS	AC=20;STUDIES=7;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:IKZF2:NM_016260:exon2:c.G33A:p.T11T,IKZF2:NM_001079526:exon3:c.G33A:p.T11T,;ANNO=splicing:IKZF2
2	214354685	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPAG16(NM_024532:c.942-2A>G)
2	215661841	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:BARD1:NM_000465:exon2:c.T159C:p.C53C,;ANNO=splicing:BARD1
2	215815807	.	C	A	100	PASS	AC=80;STUDIES=13;MAC=80;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCA12:NM_173076:exon45:c.G6648T:p.R2216S,ABCA12:NM_015657:exon37:c.G5694T:p.R1898S,;ANNO=splicing:ABCA12
2	215840509	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCA12:NM_173076:exon34:c.C5381T:p.A1794V,ABCA12:NM_015657:exon26:c.C4427T:p.A1476V,;ANNO=splicing:ABCA12
2	215843041	.	A	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ABCA12:NM_173076:exon33:c.T5127C:p.D1709D,ABCA12:NM_015657:exon25:c.T4173C:p.D1391D,;ANNO=splicing:ABCA12
2	216190053	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ATIC(NM_004044:c.379+1G>A)
2	216198181	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ATIC(NM_004044:c.922+1G>T)
2	216229602	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FN1:NM_212476:exon42:c.G6708A:p.R2236R,FN1:NM_212478:exon44:c.G6810A:p.R2270R,FN1:NM_002026:exon44:c.G6885A:p.R2295R,FN1:NM_212474:exon42:c.G6348A:p.R2116R,FN1:NM_212482:exon44:c.G7251A:p.R2417R,;ANNO=splicing:FN1
2	216243854	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FN1:NM_212476:exon32:c.T5078C:p.M1693T,FN1:NM_212478:exon33:c.T5348C:p.M1783T,FN1:NM_002026:exon33:c.T5348C:p.M1783T,FN1:NM_212474:exon32:c.T5078C:p.M1693T,FN1:NM_212482:exon34:c.T5621C:p.M1874T,;ANNO=splicing:FN1
2	216914095	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PECR:NM_018441:exon6:c.G605A:p.G202E,;ANNO=splicing:PECR
2	216923619	.	C	G	100	PASS	AC=68;STUDIES=8;MAC=68;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:PECR:NM_018441:exon4:c.G505C:p.V169L,;ANNO=nonsynonymous:PECR:NM_018441:exon4:c.G505A:p.V169M,;ANNO=splicing:PECR;ANNO=splicing:PECR
2	216995599	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:XRCC5:NM_021141:exon9:c.G939T:p.G313G,;ANNO=splicing:XRCC5
2	217311880	.	G	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SMARCAL1:NM_014140:exon11:c.G1850T:p.R617L,SMARCAL1:NM_001127207:exon11:c.G1850T:p.R617L,;ANNO=splicing:SMARCAL1
2	217315787	.	T	C	100	PASS	AC=2376;STUDIES=22;MAC=2376;MAF=0.100;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SMARCAL1:NM_014140:exon12:c.T2070C:p.T690T,SMARCAL1:NM_001127207:exon12:c.T2070C:p.T690T,;ANNO=splicing:SMARCAL1
2	218669326	.	C	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:TNS1:NM_022648:exon33:c.G5064T:p.K1688N,;ANNO=synonymous:TNS1:NM_022648:exon33:c.G5064A:p.K1688K,;ANNO=splicing:TNS1;ANNO=splicing:TNS1
2	218669326	.	C	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:TNS1:NM_022648:exon33:c.G5064T:p.K1688N,;ANNO=synonymous:TNS1:NM_022648:exon33:c.G5064A:p.K1688K,;ANNO=splicing:TNS1;ANNO=splicing:TNS1
2	218686660	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TNS1:NM_022648:exon23:c.G3063A:p.E1021E,;ANNO=splicing:TNS1
2	218762522	.	A	C	100	PASS	AC=52;STUDIES=6;MAC=52;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TNS1:NM_022648:exon6:c.T167G:p.L56R,;ANNO=splicing:TNS1
2	219129896	.	G	A	100	PASS	AC=27;STUDIES=7;MAC=27;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AAMP:NM_001087:exon10:c.C1076T:p.S359L,;ANNO=splicing:AAMP
2	219134690	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AAMP:NM_001087:exon1:c.A120G:p.P40P,;ANNO=splicing:AAMP
2	219142658	.	A	G	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TMBIM1:NM_022152:exon7:c.T513C:p.F171F,;ANNO=splicing:TMBIM1
2	219146663	.	C	T	100	PASS	AC=75;STUDIES=18;MAC=75;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMBIM1:NM_022152:exon2:c.G202A:p.G68S,;ANNO=splicing:TMBIM1
2	219227624	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C2orf62:NM_198559:exon6:c.A629G:p.Y210C,;ANNO=splicing:C2orf62
2	219247825	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC11A1:NM_000578:exon2:c.G150A:p.P50P,;ANNO=splicing:SLC11A1
2	219252677	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC11A1:NM_000578:exon8:c.A794G:p.K265R,;ANNO=splicing:SLC11A1
2	219254750	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC11A1:NM_000578:exon9:c.C953T:p.A318V,;ANNO=splicing:SLC11A1
2	219294321	.	G	C	100	PASS	AC=168;STUDIES=10;MAC=168;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VIL1:NM_007127:exon8:c.G772C:p.V258L,;ANNO=splicing:VIL1
2	219303450	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VIL1(NM_007127:c.2229+1G>A)
2	219492952	.	C	T	100	PASS	AC=135;STUDIES=19;MAC=135;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLCD4:NM_032726:exon7:c.C973T:p.R325W,;ANNO=splicing:PLCD4
2	219492953	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:PLCD4:NM_032726:exon7:c.G974A:p.R325Q,;ANNO=splicing:PLCD4
2	219498943	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLCD4:NM_032726:exon12:c.G1722A:p.M574I,;ANNO=splicing:PLCD4
2	219513359	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=synonymous:ZNF142:NM_001105537:exon6:c.G1272T:p.T424T,;ANNO=synonymous:ZNF142:NM_001105537:exon6:c.G1272A:p.T424T,;ANNO=splicing:ZNF142;ANNO=splicing:ZNF142
2	219544451	.	A	G	100	PASS	AC=18;STUDIES=8;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STK36:NM_015690:exon8:c.A947G:p.K316R,;ANNO=splicing:STK36
2	219555173	.	C	G	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STK36:NM_015690:exon14:c.C1659G:p.S553R,;ANNO=splicing:STK36
2	219613658	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTLL4(NM_014640:c.2600+1G>C)
2	219617907	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TTLL4:NM_014640:exon18:c.T3257G:p.V1086G,;ANNO=splicing:TTLL4
2	219618855	.	A	G	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTLL4(NM_014640:c.3344-2A>G)
2	219678909	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CYP27A1:NM_000784:exon6:c.C1183T:p.R395C,;ANNO=splicing:CYP27A1
2	219692354	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRKAG3(NM_017431:c.820-2A>G)
2	219693243	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PRKAG3:NM_017431:exon5:c.G714T:p.V238V,;ANNO=splicing:PRKAG3
2	219855573	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CRYBA2(NM_057094:c.446+1G>A,NM_057093:c.446+1G>A,NM_005209:c.446+1G>A)
2	219870744	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC108:NM_194302:exon31:c.C4921T:p.R1641W,;ANNO=splicing:CCDC108
2	219873876	.	G	A	100	PASS	AC=45;STUDIES=8;MAC=45;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCDC108:NM_194302:exon29:c.C4567T:p.L1523L,;ANNO=splicing:CCDC108
2	219875718	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCDC108:NM_194302:exon25:c.A3958T:p.I1320F,;ANNO=splicing:CCDC108
2	219887050	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC108:NM_194302:exon17:c.C2822T:p.T941M,;ANNO=splicing:CCDC108
2	219892924	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCDC108:NM_194302:exon12:c.A1850G:p.Q617R,;ANNO=splicing:CCDC108
2	219897193	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC108:NM_194302:exon6:c.C644T:p.A215V,;ANNO=splicing:CCDC108
2	219903618	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CCDC108:NM_194302:exon3:c.G153A:p.K51K,;ANNO=splicing:CCDC108
2	220040314	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CNPPD1:NM_015680:exon3:c.C259T:p.R87W,;ANNO=splicing:CNPPD1
2	220074953	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:ABCB6:NM_005689:exon18:c.C2419T:p.R807X,;ANNO=splicing:ABCB6
2	220079112	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCB6:NM_005689:exon7:c.C1385T:p.T462M,;ANNO=splicing:ABCB6
2	220101045	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ANKZF1:NM_001042410:exon14:c.C2059T:p.R687C,ANKZF1:NM_018089:exon14:c.C2059T:p.R687C,;ANNO=splicing:ANKZF1
2	220103305	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GLB1L:NM_024506:exon13:c.T1139C:p.V380A,;ANNO=splicing:GLB1L
2	220104643	.	T	G	100	PASS	AC=16;STUDIES=9;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GLB1L:NM_024506:exon7:c.A720C:p.P240P,;ANNO=splicing:GLB1L
2	220147650	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DNAJB2:NM_001039550:exon6:c.C444T:p.S148S,DNAJB2:NM_006736:exon6:c.C444T:p.S148S,;ANNO=splicing:DNAJB2
2	220194358	.	C	A	100	PASS	AC=55;STUDIES=2;MAC=55;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RESP18(NM_001007089:c.465+1G>T)
2	220250147	.	A	G	100	PASS	AC=24131;STUDIES=22;MAC=79;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNPEP:NM_012100:exon8:c.T773C:p.V258A,;ANNO=splicing:DNPEP
2	220284876	.	C	T	100	PASS	AC=281;STUDIES=19;MAC=281;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DES:NM_001927:exon2:c.C638T:p.A213V,;ANNO=splicing:DES
2	220342509	.	T	G	100	PASS	AC=47;STUDIES=3;MAC=47;MAF=0.074;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPEG(NM_005876:c.4826+2T>G)
2	220347820	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPEG:NM_005876:exon30:c.C5635T:p.R1879C,;ANNO=splicing:SPEG
2	220401788	.	G	A	100	PASS	AC=15;STUDIES=10;MAC=15;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ACCN4:NM_018674:exon7:c.G1611A:p.R537R,ACCN4:NM_182847:exon6:c.G1554A:p.R518R,;ANNO=splicing:ACCN4
2	220409614	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TMEM198:NM_001005209:exon2:c.C165T:p.F55F,;ANNO=splicing:TMEM198
2	220427395	.	G	A	100	PASS	AC=2994;STUDIES=16;MAC=2994;MAF=0.188;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=4;ANNO=synonymous:OBSL1:NM_001173431:exon8:c.C2682T:p.D894D,OBSL1:NM_015311:exon8:c.C2682T:p.D894D,OBSL1:NM_001173408:exon8:c.C2682T:p.D894D,;ANNO=splicing:OBSL1
2	220476556	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:STK11IP:NM_052902:exon18:c.C2368T:p.P790S,;ANNO=splicing:STK11IP
2	220477946	.	C	T	100	PASS	AC=132;STUDIES=8;MAC=132;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STK11IP:NM_052902:exon20:c.C2569T:p.R857C,;ANNO=splicing:STK11IP
2	223423066	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SGPP2:NM_152386:exon5:c.G649A:p.D217N,;ANNO=splicing:SGPP2
2	223559079	.	A	G	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MOGAT1(NM_058165:c.478-2A>G)
2	223559809	.	G	A	100	PASS	AC=7;STUDIES=7;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MOGAT1:NM_058165:exon5:c.G655A:p.A219T,;ANNO=splicing:MOGAT1
2	224746659	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDFY1:NM_020830:exon10:c.A1064G:p.D355G,;ANNO=splicing:WDFY1
2	224765900	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:WDFY1:NM_020830:exon5:c.A485G:p.Q162R,;ANNO=splicing:WDFY1
2	224866639	.	C	T	100	PASS	AC=61;STUDIES=8;MAC=61;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SERPINE2:NM_001136530:exon2:c.G15A:p.R5R,;ANNO=splicing:SERPINE2
2	225669924	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:DOCK10:NM_014689:exon36:c.C4050T:p.Y1350Y,;ANNO=splicing:DOCK10
2	225698868	.	T	A	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DOCK10:NM_014689:exon26:c.A2963T:p.K988M,;ANNO=splicing:DOCK10
2	225706613	.	C	T	100	PASS	AC=93;STUDIES=9;MAC=93;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DOCK10:NM_014689:exon23:c.G2569A:p.D857N,;ANNO=splicing:DOCK10
2	225710359	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DOCK10:NM_014689:exon20:c.G2236A:p.V746M,;ANNO=splicing:DOCK10
2	227771509	.	G	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RHBDD1:NM_001167608:exon6:c.G567T:p.G189G,RHBDD1:NM_032276:exon4:c.G567T:p.G189G,;ANNO=splicing:RHBDD1
2	227773539	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RHBDD1:NM_001167608:exon7:c.C657T:p.G219G,RHBDD1:NM_032276:exon5:c.C657T:p.G219G,;ANNO=splicing:RHBDD1
2	227779066	.	A	G	100	PASS	AC=36;STUDIES=5;MAC=36;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RHBDD1:NM_001167608:exon8:c.A855G:p.R285R,RHBDD1:NM_032276:exon6:c.A855G:p.R285R,;ANNO=splicing:RHBDD1
2	227959005	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL4A4:NM_000092:exon20:c.G1205A:p.G402D,;ANNO=splicing:COL4A4
2	228109081	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL4A3(NM_000091:c.279+1G>A)
2	228118052	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL4A3:NM_000091:exon12:c.G686A:p.R229Q,;ANNO=splicing:COL4A3
2	228195564	.	T	A	100	PASS	AC=33;STUDIES=3;MAC=33;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MFF(NM_020194:c.259+2T>A)
2	228205007	.	G	A	100	PASS	AC=26;STUDIES=2;MAC=26;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MFF(NM_020194:c.429-1G>A)
2	228552881	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC19A3(NM_025243:c.1314+1G>A)
2	228758512	.	T	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDR69:NM_178821:exon5:c.T319G:p.F107V,;ANNO=splicing:WDR69
2	228786115	.	A	T	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDR69:NM_178821:exon12:c.A1051T:p.I351F,;ANNO=splicing:WDR69
2	228884872	.	T	C	100	PASS	AC=12;STUDIES=7;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPHKAP:NM_001142644:exon7:c.A698G:p.D233G,SPHKAP:NM_030623:exon7:c.A698G:p.D233G,;ANNO=splicing:SPHKAP
2	230341855	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNER(NM_139072:c.1261+1G>A)
2	230655841	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TRIP12:NM_004238:exon29:c.C4317T:p.H1439H,;ANNO=splicing:TRIP12
2	230678950	.	G	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRIP12:NM_004238:exon11:c.C1679T:p.A560V,;ANNO=splicing:TRIP12
2	230693910	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TRIP12:NM_004238:exon7:c.T1305G:p.A435A,;ANNO=splicing:TRIP12
2	231037675	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SP110:NM_080424:exon15:c.C1591T:p.R531W,SP110:NM_004509:exon15:c.C1591T:p.R531W,;ANNO=splicing:SP110
2	231042873	.	C	T	100	PASS	AC=225;STUDIES=18;MAC=225;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SP110:NM_004510:exon13:c.G1447A:p.G483R,SP110:NM_001185015:exon14:c.G1465A:p.G489R,SP110:NM_080424:exon13:c.G1447A:p.G483R,SP110:NM_004509:exon13:c.G1447A:p.G483R,;ANNO=splicing:SP110
2	231108447	.	G	C	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SP140:NM_007237:exon5:c.G492C:p.E164D,;ANNO=splicing:SP140
2	231112782	.	T	C	100	PASS	AC=28;STUDIES=3;MAC=28;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SP140(NM_007237:c.892+2T>C)
2	231118131	.	A	G	100	PASS	AC=47;STUDIES=7;MAC=47;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:SP140:NM_007237:exon11:c.A1158G:p.E386E,;ANNO=splicing:SP140
2	231193547	.	G	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SP140L(NM_138402:c.107+1G>A)
2	231261473	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:SP140L:NM_138402:exon14:c.G1157A:p.R386K,;ANNO=splicing:SP140L
2	231261513	.	T	C	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:SP140L:NM_138402:exon14:c.T1197C:p.C399C,;ANNO=splicing:SP140L
2	231328781	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SP100(NM_003113:c.1057-1G>A,NM_001080391:c.1057-1G>A,NM_001206702:c.1057-1G>A,NM_001206703:c.982-1G>A,NM_001206701:c.1057-1G>A,NM_001206704:c.952-1G>A)
2	231331923	.	T	A	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SP100:NM_001206702:exon13:c.T1284A:p.G428G,SP100:NM_001206701:exon13:c.T1284A:p.G428G,SP100:NM_001206704:exon14:c.T1179A:p.G393G,SP100:NM_001080391:exon13:c.T1284A:p.G428G,SP100:NM_003113:exon13:c.T1284A:p.G428G,;ANNO=splicing:SP100(NM_001206703:c.1207+2T>A)
2	231333811	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SP100:NM_001206702:exon14:c.C1345T:p.R449C,SP100:NM_001206701:exon14:c.C1345T:p.R449C,SP100:NM_001206704:exon15:c.C1240T:p.R414C,SP100:NM_001080391:exon14:c.C1345T:p.R449C,SP100:NM_003113:exon14:c.C1345T:p.R449C,SP100:NM_001206703:exon13:c.C1261T:p.R421C,;ANNO=splicing:SP100
2	231338156	.	G	A	100	PASS	AC=44;STUDIES=13;MAC=44;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SP100(NM_003113:c.1546+1G>A,NM_001080391:c.1546+1G>A,NM_001206701:c.1546+1G>A)
2	231379811	.	A	G	100	PASS	AC=268;STUDIES=10;MAC=268;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:SP100:NM_003113:exon25:c.A2096G:p.E699G,;ANNO=splicing:SP100
2	231740522	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITM2C:NM_001012514:exon2:c.G308A:p.R103Q,ITM2C:NM_030926:exon3:c.G449A:p.R150Q,ITM2C:NM_001012516:exon3:c.G449A:p.R150Q,;ANNO=splicing:ITM2C
2	231978443	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HTR2B:NM_000867:exon3:c.G553T:p.G185C,;ANNO=splicing:HTR2B
2	232156156	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ARMC9:NM_025139:exon18:c.G1717A:p.E573K,;ANNO=splicing:ARMC9
2	232889039	.	C	T	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DIS3L2:NM_152383:exon4:c.C263T:p.P88L,;ANNO=splicing:DIS3L2
2	233243796	.	T	C	100	PASS	AC=83;STUDIES=6;MAC=83;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:ALPP:NM_001632:exon2:c.T192C:p.D64D,;ANNO=splicing:ALPP
2	233244223	.	A	C	100	PASS	AC=17;STUDIES=6;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ALPP:NM_001632:exon4:c.A310C:p.T104P,;ANNO=splicing:ALPP
2	233244646	.	C	T	100	PASS	AC=118;STUDIES=5;MAC=118;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:ALPP:NM_001632:exon5:c.C657T:p.D219D,;ANNO=splicing:ALPP
2	233272305	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ALPPL2:NM_031313:exon4:c.C302T:p.T101I,;ANNO=splicing:ALPPL2
2	233272727	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:ALPPL2:NM_031313:exon5:c.T648C:p.D216D,;ANNO=splicing:ALPPL2
2	233322928	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ALPI:NM_001631:exon9:c.C993T:p.G331G,;ANNO=splicing:ALPI
2	233323342	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ALPI:NM_001631:exon10:c.G1184A:p.G395E,;ANNO=splicing:ALPI
2	233323343	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ALPI:NM_001631:exon10:c.G1185A:p.G395G,;ANNO=splicing:ALPI
2	233345801	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=synonymous:ECEL1:NM_004826:exon15:c.C2055T:p.H685H,;ANNO=nonsynonymous:ECEL1:NM_004826:exon15:c.C2055A:p.H685Q,;ANNO=splicing:ECEL1;ANNO=splicing:ECEL1
2	233392155	.	C	T	100	PASS	AC=120;STUDIES=7;MAC=120;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CHRND:NM_000751:exon3:c.C243T:p.H81H,;ANNO=splicing:CHRND
2	233398845	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CHRND:NM_000751:exon10:c.C1252T:p.R418C,;ANNO=splicing:CHRND
2	233410253	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CHRNG:NM_005199:exon12:c.G1381A:p.G461R,;ANNO=splicing:CHRNG
2	233422728	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:EIF4E2:NM_004846:exon3:c.T270A:p.S90S,;ANNO=splicing:EIF4E2
2	233745857	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NGEF:NM_001114090:exon12:c.C1665T:p.D555D,NGEF:NM_019850:exon14:c.C1941T:p.D647D,;ANNO=splicing:NGEF
2	233986969	.	T	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:INPP5D(NM_005541:c.349+2T>G,NM_001017915:c.349+2T>G)
2	234085991	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:INPP5D:NM_005541:exon17:c.T1982C:p.M661T,INPP5D:NM_001017915:exon17:c.T1985C:p.M662T,;ANNO=splicing:INPP5D
2	234102459	.	C	T	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:INPP5D:NM_005541:exon22:c.C2360T:p.A787V,INPP5D:NM_001017915:exon22:c.C2363T:p.A788V,;ANNO=splicing:INPP5D
2	234229274	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SAG(NM_000541:c.181-2A>G)
2	234229468	.	C	T	100	PASS	AC=45;STUDIES=14;MAC=45;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SAG:NM_000541:exon5:c.C374T:p.T125M,;ANNO=splicing:SAG
2	234243745	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SAG:NM_000541:exon11:c.T944C:p.I315T,;ANNO=splicing:SAG
2	234394623	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:USP40:NM_018218:exon28:c.C3231T:p.G1077G,;ANNO=splicing:USP40
2	234752851	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HJURP:NM_018410:exon7:c.G574A:p.G192R,;ANNO=splicing:HJURP
2	234835179	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRPM8
2	234839386	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRPM8:NM_024080:exon3:c.C191T:p.T64M,;ANNO=splicing:TRPM8
2	236708166	.	C	T	100	PASS	AC=6459;STUDIES=22;MAC=6459;MAF=0.266;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AGAP1:NM_001037131:exon8:c.C957T:p.T319T,AGAP1:NM_014914:exon8:c.C957T:p.T319T,;ANNO=splicing:AGAP1
2	236715883	.	T	C	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AGAP1:NM_001037131:exon9:c.T958C:p.S320P,AGAP1:NM_014914:exon9:c.T958C:p.S320P,;ANNO=splicing:AGAP1
2	237149922	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ASB18(NM_212556:c.328+1G>A)
2	238250803	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL6A3:NM_057166:exon34:c.T5849A:p.I1950N,COL6A3:NM_057167:exon36:c.T7052A:p.I2351N,COL6A3:NM_004369:exon37:c.T7670A:p.I2557N,;ANNO=splicing:COL6A3
2	238253585	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL6A3:NM_057166:exon32:c.C5352T:p.Y1784Y,COL6A3:NM_057167:exon34:c.C6555T:p.Y2185Y,COL6A3:NM_004369:exon35:c.C7173T:p.Y2391Y,;ANNO=splicing:COL6A3
2	238443207	.	A	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MLPH:NM_024101:exon9:c.A1021T:p.I341F,;ANNO=splicing:MLPH
2	238628209	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRRFIP1:NM_001137552:exon3:c.C197T:p.S66L,LRRFIP1:NM_004735:exon3:c.C197T:p.S66L,LRRFIP1:NM_001137550:exon5:c.C293T:p.S98L,;ANNO=splicing:LRRFIP1
2	238642460	.	G	T	100	PASS	AC=105;STUDIES=12;MAC=105;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRRFIP1:NM_001137550:exon9:c.G488T:p.R163L,;ANNO=splicing:LRRFIP1
2	238667372	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LRRFIP1:NM_001137550:exon18:c.G1225T:p.A409S,;ANNO=splicing:LRRFIP1
2	238736077	.	C	A	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RBM44:NM_001080504:exon12:c.C2534A:p.A845D,;ANNO=splicing:RBM44
2	238990350	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SCLY:NM_016510:exon5:c.C509T:p.A170V,;ANNO=splicing:SCLY
2	240056224	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HDAC4:NM_006037:exon10:c.C1094T:p.A365V,;ANNO=splicing:HDAC4
2	240954276	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NDUFA10:NM_004544:exon5:c.T549C:p.C183C,;ANNO=splicing:NDUFA10
2	241073351	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MYEOV2:NM_138336:exon2:c.C228T:p.N76N,MYEOV2:NM_001163424:exon2:c.C135T:p.N45N,;ANNO=splicing:MYEOV2
2	241078770	.	G	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OTOS:NM_148961:exon4:c.C87A:p.D29E,;ANNO=splicing:OTOS
2	241421599	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANKMY1(NM_016552:c.2618+1G>A,NM_017844:c.1946+1G>A)
2	241459779	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ANKMY1:NM_016552:exon8:c.G1737A:p.Q579Q,ANKMY1:NM_017844:exon7:c.G1314A:p.Q438Q,;ANNO=splicing:ANKMY1
2	241465103	.	T	C	100	PASS	AC=19;STUDIES=4;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ANKMY1:NM_016552:exon6:c.A1067G:p.Q356R,ANKMY1:NM_017844:exon5:c.A644G:p.Q215R,;ANNO=splicing:ANKMY1
2	241496770	.	C	A	100	PASS	AC=1074;STUDIES=10;MAC=1074;MAF=0.115;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANKMY1
2	241537306	.	T	C	100	PASS	AC=41;STUDIES=10;MAC=41;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CAPN10:NM_023085:exon8:c.T1280C:p.V427A,CAPN10:NM_023083:exon10:c.T1745C:p.V582A,;ANNO=splicing:CAPN10
2	241686737	.	G	A	100	PASS	AC=133;STUDIES=13;MAC=133;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIF1A:NM_004321:exon27:c.C2676T:p.A892A,;ANNO=splicing:KIF1A
2	241817048	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AGXT:NM_000030:exon9:c.C941T:p.P314L,;ANNO=splicing:AGXT
2	242051654	.	C	T	100	PASS	AC=34;STUDIES=11;MAC=34;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PASK(NM_015148:c.3533+1G>A)
2	242051855	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PASK(NM_015148:c.3333-1G>A)
2	242130608	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANO7(NM_001001666:c.270-1G>T,NM_001001891:c.270-1G>T)
2	242139640	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ANO7:NM_001001891:exon6:c.G716A:p.R239H,;ANNO=splicing:ANO7
2	242139641	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANO7(NM_001001891:c.716+1G>T)
2	242141719	.	C	T	100	PASS	AC=14246;STUDIES=21;MAC=8358;MAF=0.370;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:ANO7:NM_001001891:exon8:c.C885T:p.D295D,;ANNO=splicing:ANO7
2	242144370	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ANO7:NM_001001891:exon10:c.C1142T:p.T381M,;ANNO=splicing:ANO7
2	242148699	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANO7(NM_001001891:c.1239-1G>A)
2	242151987	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ANO7:NM_001001891:exon17:c.G1836A:p.R612R,;ANNO=splicing:ANO7
2	242154318	.	G	A	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANO7(NM_001001891:c.1988+1G>A)
2	242263632	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:SEPT2
2	242352722	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FARP2:NM_014808:exon7:c.C509T:p.S170L,;ANNO=splicing:FARP2
2	242415273	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FARP2:NM_014808:exon19:c.C2133T:p.D711D,;ANNO=splicing:FARP2
2	242439587	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:STK25(NM_006374:c.427+1G>A)
2	242513552	.	A	G	100	PASS	AC=48;STUDIES=2;MAC=48;MAF=0.035;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:BOK
2	242707126	.	A	G	100	PASS	AC=36;STUDIES=4;MAC=36;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:D2HGDH:NM_152783:exon10:c.A1308G:p.G436G,;ANNO=splicing:D2HGDH
2	242716400	.	G	A	100	PASS	AC=81;STUDIES=15;MAC=81;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GAL3ST2(NM_022134:c.29+1G>A)
2	242738570	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GAL3ST2(NM_022134:c.119+1G>A)
3	396324	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CHL1:NM_006614:exon11:c.G1035A:p.E345E,;ANNO=splicing:CHL1
3	1414159	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CNTN6(NM_014461:c.1668+1G>A)
3	1427481	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:CNTN6:NM_014461:exon20:c.C2704G:p.P902A,;ANNO=nonsynonymous:CNTN6:NM_014461:exon20:c.C2704T:p.P902S,;ANNO=splicing:CNTN6;ANNO=splicing:CNTN6
3	3095492	.	T	G	100	PASS	AC=137;STUDIES=2;MAC=137;MAF=0.179;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:CNTN4:NM_001206956:exon15:c.T1826G:p.V609G,CNTN4:NM_175613:exon15:c.T1829G:p.V610G,CNTN4:NM_001206955:exon23:c.T2813G:p.V938G,CNTN4:NM_175607:exon24:c.T2813G:p.V938G,;ANNO=splicing:CNTN4
3	3179136	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRNT1:NM_182916:exon3:c.G341A:p.R114K,;ANNO=splicing:TRNT1
3	4354581	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:SETMAR(NM_006515:c.156-1G>T)
3	4461747	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SUMF1(NM_001164675:c.602+1G>A,NM_001164674:c.527+1G>A,NM_182760:c.602+1G>A)
3	4490950	.	T	C	100	PASS	AC=11;STUDIES=8;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SUMF1:NM_001164675:exon3:c.A519G:p.A173A,SUMF1:NM_182760:exon3:c.A519G:p.A173A,;ANNO=splicing:SUMF1
3	4712413	.	G	A	100	PASS	AC=10332;STUDIES=17;MAC=5466;MAF=0.346;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:ITPR1:NM_001099952:exon20:c.G2007A:p.K669K,ITPR1:NM_002222:exon19:c.G1962A:p.K654K,ITPR1:NM_001168272:exon19:c.G1962A:p.K654K,;ANNO=splicing:ITPR1
3	4715070	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ITPR1:NM_001099952:exon21:c.G2455A:p.D819N,ITPR1:NM_002222:exon20:c.G2410A:p.D804N,ITPR1:NM_001168272:exon20:c.G2410A:p.D804N,;ANNO=splicing:ITPR1
3	4776848	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITPR1:NM_001099952:exon41:c.G5210T:p.G1737V,ITPR1:NM_002222:exon40:c.G5165T:p.G1722V,ITPR1:NM_001168272:exon43:c.G5309T:p.G1770V,;ANNO=splicing:ITPR1
3	5243609	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=synonymous:EDEM1:NM_014674:exon4:c.G858A:p.R286R,;ANNO=synonymous:EDEM1:NM_014674:exon4:c.G858T:p.R286R,;ANNO=splicing:EDEM1;ANNO=splicing:EDEM1
3	5243609	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:EDEM1:NM_014674:exon4:c.G858A:p.R286R,;ANNO=synonymous:EDEM1:NM_014674:exon4:c.G858T:p.R286R,;ANNO=splicing:EDEM1;ANNO=splicing:EDEM1
3	5255207	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EDEM1:NM_014674:exon11:c.C1884T:p.N628N,;ANNO=splicing:EDEM1
3	8609126	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LMCD1:NM_014583:exon6:c.A940G:p.I314V,;ANNO=splicing:LMCD1
3	9426209	.	C	T	100	PASS	AC=28;STUDIES=13;MAC=28;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:THUMPD3:NM_015453:exon10:c.C1361T:p.A454V,THUMPD3:NM_001114092:exon10:c.C1361T:p.A454V,;ANNO=splicing:THUMPD3
3	9495424	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SETD5:NM_001080517:exon17:c.G2348A:p.R783H,;ANNO=splicing:SETD5
3	9714369	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MTMR14:NM_022485:exon7:c.T678C:p.N226N,MTMR14:NM_001077526:exon7:c.T678C:p.N226N,MTMR14:NM_001077525:exon7:c.T678C:p.N226N,;ANNO=splicing:MTMR14
3	9739550	.	T	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MTMR14:NM_001077525:exon18:c.T1769A:p.L590Q,;ANNO=splicing:MTMR14
3	9746678	.	T	C	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CPNE9:NM_153635:exon4:c.T260C:p.V87A,;ANNO=splicing:CPNE9
3	9787497	.	G	A	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BRPF1:NM_004634:exon12:c.G3189A:p.M1063I,BRPF1:NM_001003694:exon12:c.G3207A:p.M1069I,;ANNO=splicing:BRPF1
3	9792107	.	G	A	100	PASS	AC=85;STUDIES=15;MAC=85;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OGG1:NM_016828:exon1:c.G137A:p.R46Q,OGG1:NM_016821:exon1:c.G137A:p.R46Q,OGG1:NM_016820:exon1:c.G137A:p.R46Q,OGG1:NM_016819:exon1:c.G137A:p.R46Q,OGG1:NM_016827:exon1:c.G137A:p.R46Q,OGG1:NM_016826:exon1:c.G137A:p.R46Q,OGG1:NM_002542:exon1:c.G137A:p.R46Q,OGG1:NM_016829:exon1:c.G137A:p.R46Q,;ANNO=splicing:OGG1
3	9798499	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OGG1:NM_016828:exon6:c.C947T:p.A316V,OGG1:NM_016821:exon6:c.C947T:p.A316V,OGG1:NM_016820:exon6:c.C947T:p.A316V,OGG1:NM_016819:exon6:c.C947T:p.A316V,OGG1:NM_002542:exon6:c.C947T:p.A316V,OGG1:NM_016829:exon6:c.C947T:p.A316V,;ANNO=splicing:OGG1
3	9798745	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OGG1:NM_002542:exon7:c.G949A:p.V317M,;ANNO=splicing:OGG1
3	9800918	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OGG1:NM_016829:exon7:c.G949A:p.A317T,;ANNO=splicing:OGG1
3	9867484	.	C	T	100	PASS	AC=26;STUDIES=6;MAC=26;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TTLL3:NM_001025930:exon8:c.C1155T:p.H385H,ARPC4-TTLL3:NM_001198793:exon9:c.C909T:p.H303H,;ANNO=splicing:ARPC4-TTLL3,TTLL3
3	9882215	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RPUSD3(NM_173659:c.600+1G>A,NM_001142547:c.555+1G>A)
3	9885285	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RPUSD3:NM_173659:exon2:c.G126A:p.R42R,RPUSD3:NM_001142547:exon2:c.G126A:p.R42R,;ANNO=splicing:RPUSD3
3	9948783	.	A	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IL17RE:NM_153480:exon6:c.A665T:p.Q222L,IL17RE:NM_001193380:exon6:c.A665T:p.Q222L,IL17RE:NM_153483:exon7:c.A785T:p.Q262L,;ANNO=splicing:IL17RE
3	9969850	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IL17RC:NM_001203264:exon10:c.G823A:p.V275M,IL17RC:NM_032732:exon9:c.G778A:p.V260M,IL17RC:NM_001203263:exon10:c.G823A:p.V275M,IL17RC:NM_153460:exon10:c.G823A:p.V275M,IL17RC:NM_153461:exon10:c.G1036A:p.V346M,IL17RC:NM_001203265:exon9:c.G778A:p.V260M,;ANNO=splicing:IL17RC
3	9970170	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IL17RC:NM_001203264:exon11:c.C1059T:p.D353D,IL17RC:NM_032732:exon10:c.C1014T:p.D338D,IL17RC:NM_001203263:exon11:c.C1059T:p.D353D,IL17RC:NM_153460:exon11:c.C1059T:p.D353D,IL17RC:NM_153461:exon11:c.C1272T:p.D424D,IL17RC:NM_001203265:exon10:c.C1014T:p.D338D,;ANNO=splicing:IL17RC
3	9974543	.	G	C	100	PASS	AC=156;STUDIES=14;MAC=156;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IL17RC(NM_001203265:c.1426+1G>C,NM_153460:c.1522+1G>C,NM_032732:c.1477+1G>C,NM_153461:c.1735+1G>C)
3	9984855	.	C	T	100	PASS	AC=263;STUDIES=12;MAC=263;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CRELD1:NM_015513:exon8:c.C912T:p.L304L,CRELD1:NM_001031717:exon9:c.C912T:p.L304L,CRELD1:NM_001077415:exon9:c.C912T:p.L304L,;ANNO=splicing:CRELD1
3	9985779	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:CRELD1:NM_001031717:exon11:c.C1242A:p.H414Q,;ANNO=synonymous:CRELD1:NM_001031717:exon11:c.C1242T:p.H414H,;ANNO=splicing:CRELD1;ANNO=splicing:CRELD1
3	10050086	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:LOC401052(NM_001008737:c.77+2T>C)
3	10050088	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LOC401052:NM_001008737:exon3:c.G77A:p.R26K,;ANNO=splicing:LOC401052
3	10083307	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FANCD2:NM_033084:exon10:c.T696C:p.S232S,FANCD2:NM_001018115:exon10:c.T696C:p.S232S,;ANNO=splicing:FANCD2
3	10088408	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:FANCD2(NM_033084:c.1278+1G>T,NM_001018115:c.1278+1G>T)
3	10115047	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;SNP_ON_LEFT;ANNO=splicing:FANCD2(NM_033084:c.2715+1G>A,NM_001018115:c.2715+1G>A)
3	10127605	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FANCD2:NM_033084:exon33:c.A3334G:p.S1112G,FANCD2:NM_001018115:exon33:c.A3334G:p.S1112G,;ANNO=splicing:FANCD2
3	10242051	.	A	G	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IRAK2(NM_001570:c.277-2A>G)
3	10242198	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IRAK2:NM_001570:exon3:c.A423G:p.P141P,;ANNO=splicing:IRAK2
3	10255169	.	C	G	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IRAK2:NM_001570:exon6:c.C725G:p.T242R,;ANNO=splicing:IRAK2
3	10331447	.	C	T	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GHRL:NM_001134941:exon3:c.G221A:p.R74Q,GHRL:NM_001134945:exon2:c.G185A:p.R62Q,GHRL:NM_001134944:exon2:c.G188A:p.R63Q,GHRL:NM_016362:exon3:c.G224A:p.R75Q,;ANNO=splicing:GHRL
3	10419937	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ATP2B2:NM_001683:exon7:c.G1065A:p.A355A,ATP2B2:NM_001001331:exon10:c.G1200A:p.A400A,;ANNO=splicing:ATP2B2
3	10975851	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:SLC6A11:NM_014229:exon12:c.C1574T:p.A525V,;ANNO=splicing:SLC6A11
3	11072964	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC6A1:NM_003042:exon13:c.C1425T:p.Y475Y,;ANNO=splicing:SLC6A1
3	11075425	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC6A1:NM_003042:exon14:c.G1527A:p.A509A,;ANNO=splicing:SLC6A1
3	11400085	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATG7:NM_006395:exon13:c.A1478G:p.K493R,ATG7:NM_001136031:exon13:c.A1478G:p.K493R,ATG7:NM_001144912:exon12:c.A1361G:p.K454R,;ANNO=splicing:ATG7
3	11596283	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ATG7(NM_001144912:c.1839-2A>G,NM_001136031:c.1998-2A>G,NM_006395:c.2079-2A>G)
3	11600807	.	G	A	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VGLL4:NM_001128220:exon3:c.C360T:p.S120S,VGLL4:NM_001128219:exon4:c.C618T:p.S206S,VGLL4:NM_014667:exon5:c.C600T:p.S200S,VGLL4:NM_001128221:exon3:c.C348T:p.S116S,;ANNO=splicing:VGLL4
3	11744520	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VGLL4
3	12544761	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TSEN2:NM_025265:exon5:c.G309A:p.R103R,TSEN2:NM_001145392:exon5:c.G309A:p.R103R,TSEN2:NM_001145393:exon5:c.G309A:p.R103R,TSEN2:NM_001145394:exon5:c.G309A:p.R103R,TSEN2:NM_001145395:exon5:c.G309A:p.R103R,;ANNO=splicing:TSEN2
3	12611570	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MKRN2:NM_014160:exon3:c.A156G:p.R52R,;ANNO=splicing:MKRN2
3	12650834	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RAF1:NM_002880:exon4:c.T321C:p.G107G,;ANNO=splicing:RAF1
3	12776291	.	C	A	100	PASS	AC=73;STUDIES=11;MAC=73;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TMEM40:NM_018306:exon12:c.G684T:p.G228G,;ANNO=splicing:TMEM40
3	12861586	.	T	C	100	PASS	AC=3246;STUDIES=20;MAC=3246;MAF=0.150;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:CAND2:NM_001162499:exon11:c.T2946C:p.G982G,CAND2:NM_012298:exon9:c.T2667C:p.G889G,;ANNO=splicing:CAND2
3	12861680	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CAND2:NM_001162499:exon11:c.G3040A:p.G1014R,CAND2:NM_012298:exon9:c.G2761A:p.A921T,;ANNO=splicing:CAND2
3	12881028	.	C	T	100	PASS	AC=43;STUDIES=11;MAC=43;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:RPL32:NM_001007073:exon3:c.G98A:p.R33H,RPL32:NM_000994:exon3:c.G98A:p.R33H,RPL32:NM_001007074:exon2:c.G98A:p.R33H,;ANNO=splicing:RPL32
3	12953129	.	A	G	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IQSEC1:NM_014869:exon10:c.T2458C:p.Y820H,IQSEC1:NM_001134382:exon10:c.T2416C:p.Y806H,;ANNO=splicing:IQSEC1
3	12957095	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IQSEC1:NM_014869:exon7:c.C2201T:p.P734L,IQSEC1:NM_001134382:exon7:c.C2159T:p.P720L,;ANNO=splicing:IQSEC1
3	13361262	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NUP210(NM_024923:c.5383+1G>A)
3	13363084	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NUP210(NM_024923:c.5166+1G>T)
3	13393479	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NUP210:NM_024923:exon20:c.C2735T:p.A912V,;ANNO=splicing:NUP210
3	13395416	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NUP210:NM_024923:exon17:c.C2520T:p.H840H,;ANNO=splicing:NUP210
3	13669333	.	C	T	100	PASS	AC=46;STUDIES=12;MAC=46;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FBLN2:NM_001998:exon10:c.C2292T:p.D764D,FBLN2:NM_001004019:exon11:c.C2433T:p.D811D,FBLN2:NM_001165035:exon11:c.C2433T:p.D811D,;ANNO=splicing:FBLN2
3	13670665	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FBLN2:NM_001998:exon12:c.C2574T:p.D858D,FBLN2:NM_001004019:exon13:c.C2715T:p.D905D,FBLN2:NM_001165035:exon13:c.C2715T:p.D905D,;ANNO=splicing:FBLN2
3	13670791	.	C	T	100	PASS	AC=29;STUDIES=12;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FBLN2:NM_001998:exon12:c.C2700T:p.I900I,FBLN2:NM_001004019:exon13:c.C2841T:p.I947I,FBLN2:NM_001165035:exon13:c.C2841T:p.I947I,;ANNO=splicing:FBLN2
3	13671321	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FBLN2:NM_001998:exon13:c.C2703T:p.D901D,FBLN2:NM_001004019:exon14:c.C2844T:p.D948D,FBLN2:NM_001165035:exon14:c.C2844T:p.D948D,;ANNO=splicing:FBLN2
3	13677946	.	C	T	100	PASS	AC=201;STUDIES=16;MAC=201;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FBLN2:NM_001998:exon16:c.C3075T:p.D1025D,FBLN2:NM_001004019:exon17:c.C3216T:p.D1072D,FBLN2:NM_001165035:exon17:c.C3216T:p.D1072D,;ANNO=splicing:FBLN2
3	13678068	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FBLN2:NM_001998:exon16:c.C3197T:p.T1066M,FBLN2:NM_001004019:exon17:c.C3338T:p.T1113M,FBLN2:NM_001165035:exon17:c.C3338T:p.T1113M,;ANNO=splicing:FBLN2
3	14163417	.	C	A	100	PASS	AC=36;STUDIES=6;MAC=36;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CHCHD4:NM_144636:exon2:c.G61T:p.G21W,;ANNO=splicing:CHCHD4
3	14212050	.	C	T	100	PASS	AC=223;STUDIES=10;MAC=223;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:XPC:NM_001145769:exon3:c.G300A:p.R100R,XPC:NM_004628:exon3:c.G300A:p.R100R,;ANNO=splicing:XPC
3	14214561	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:XPC:NM_001145769:exon2:c.T105A:p.D35E,XPC:NM_004628:exon2:c.T105A:p.D35E,;ANNO=splicing:XPC
3	14485135	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:SLC6A6
3	14487358	.	T	C	100	PASS	AC=64;STUDIES=6;MAC=64;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC6A6:NM_003043:exon4:c.T363C:p.S121S,SLC6A6:NM_001134368:exon4:c.T363C:p.S121S,SLC6A6:NM_001134367:exon4:c.T363C:p.S121S,;ANNO=splicing:SLC6A6
3	14549069	.	G	C	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GRIP2:NM_001080423:exon19:c.C2508G:p.T836T,;ANNO=splicing:GRIP2
3	14552986	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GRIP2:NM_001080423:exon16:c.G2012A:p.R671Q,;ANNO=splicing:GRIP2
3	14555318	.	C	T	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GRIP2:NM_001080423:exon14:c.G1784A:p.G595D,;ANNO=splicing:GRIP2
3	14700436	.	G	A	100	PASS	AC=19;STUDIES=5;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C3orf19:NM_016474:exon4:c.G307A:p.D103N,;ANNO=splicing:C3orf19
3	14711441	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C3orf19:NM_016474:exon10:c.A953C:p.D318A,;ANNO=splicing:C3orf19
3	14724483	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C3orf20:NM_032137:exon3:c.T263C:p.V88A,;ANNO=splicing:C3orf20
3	14724703	.	G	A	100	PASS	AC=220;STUDIES=10;MAC=220;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C3orf20:NM_001184958:exon3:c.G117A:p.S39S,C3orf20:NM_001184957:exon3:c.G117A:p.S39S,C3orf20:NM_032137:exon3:c.G483A:p.S161S,;ANNO=splicing:C3orf20
3	14731623	.	G	C	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C3orf20:NM_001184958:exon5:c.G379C:p.G127R,C3orf20:NM_001184957:exon5:c.G379C:p.G127R,C3orf20:NM_032137:exon5:c.G745C:p.G249R,;ANNO=splicing:C3orf20
3	14755667	.	G	C	100	PASS	AC=18;STUDIES=4;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C3orf20(NM_001184957:c.947+1G>C,NM_032137:c.1313+1G>C,NM_001184958:c.947+1G>C)
3	15062438	.	A	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NR2C2:NM_003298:exon6:c.A612G:p.E204E,;ANNO=splicing:NR2C2
3	15079643	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NR2C2:NM_003298:exon13:c.C1566T:p.P522P,;ANNO=splicing:NR2C2
3	15094973	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MRPS25:NM_022497:exon3:c.T243C:p.D81D,;ANNO=splicing:MRPS25
3	15116437	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZFYVE20:NM_022340:exon14:c.G1207A:p.A403T,;ANNO=splicing:ZFYVE20
3	15262286	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CAPN7(NM_014296:c.437-2A>G)
3	15262289	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CAPN7:NM_014296:exon5:c.G439A:p.A147T,;ANNO=splicing:CAPN7
3	15270565	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CAPN7:NM_014296:exon8:c.G937A:p.G313S,;ANNO=splicing:CAPN7
3	15271950	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CAPN7:NM_014296:exon9:c.A940G:p.I314V,;ANNO=splicing:CAPN7
3	15274172	.	C	T	100	PASS	AC=56;STUDIES=15;MAC=56;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CAPN7:NM_014296:exon10:c.C1179T:p.S393S,;ANNO=splicing:CAPN7
3	15282123	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CAPN7:NM_014296:exon13:c.C1551T:p.N517N,;ANNO=splicing:CAPN7
3	15609509	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:HACL1:NM_012260:exon14:c.G1251C:p.R417S,;ANNO=synonymous:HACL1:NM_012260:exon14:c.G1251A:p.R417R,;ANNO=splicing:HACL1;ANNO=splicing:HACL1
3	15609509	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:HACL1:NM_012260:exon14:c.G1251C:p.R417S,;ANNO=synonymous:HACL1:NM_012260:exon14:c.G1251A:p.R417R,;ANNO=splicing:HACL1;ANNO=splicing:HACL1
3	15624498	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HACL1(NM_012260:c.554-2A>G)
3	15643400	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:BTD:NM_000060:exon1:c.A43C:p.R15R,;ANNO=nonsynonymous:BTD:NM_000060:exon1:c.A43G:p.R15G,;ANNO=splicing:BTD;ANNO=splicing:BTD
3	16242126	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GALNTL2:NM_054110:exon3:c.G707A:p.G236E,;ANNO=splicing:GALNTL2
3	16254271	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GALNTL2(NM_054110:c.1392+1G>T)
3	16264121	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GALNTL2(NM_054110:c.1629-1G>A)
3	16327849	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OXNAD1:NM_138381:exon5:c.A184G:p.I62V,;ANNO=splicing:OXNAD1
3	16336364	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OXNAD1:NM_138381:exon6:c.G292A:p.V98I,;ANNO=splicing:OXNAD1
3	16336503	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OXNAD1:NM_138381:exon6:c.C431T:p.T144M,;ANNO=splicing:OXNAD1
3	16364964	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RFTN1:NM_015150:exon9:c.C1251T:p.S417S,;ANNO=splicing:RFTN1
3	17226601	.	C	G	100	PASS	AC=45;STUDIES=14;MAC=45;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TBC1D5:NM_001134380:exon19:c.G1852C:p.V618L,TBC1D5:NM_014744:exon19:c.G1852C:p.V618L,TBC1D5:NM_001134381:exon21:c.G1918C:p.V640L,;ANNO=splicing:TBC1D5
3	17349483	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TBC1D5(NM_001134381:c.1138+1G>C,NM_001134380:c.1138+1G>C,NM_014744:c.1138+1G>C)
3	19940924	.	G	A	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EFHB:NM_144715:exon7:c.C1502T:p.P501L,;ANNO=splicing:EFHB
3	20167605	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KAT2B:NM_003884:exon10:c.C1622T:p.P541L,;ANNO=splicing:KAT2B
3	21478694	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF385D:NM_024697:exon5:c.C441T:p.D147D,;ANNO=splicing:ZNF385D
3	25675505	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TOP2B:NM_001068:exon8:c.G838T:p.V280L,;ANNO=splicing:TOP2B
3	27326094	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=synonymous:NEK10:NM_199347:exon23:c.T2013A:p.V671V,;ANNO=splicing:NEK10
3	27326451	.	A	G	100	PASS	AC=4100;STUDIES=16;MAC=4100;MAF=0.268;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NEK10:NM_199347:exon22:c.T1791C:p.N597N,;ANNO=splicing:NEK10
3	27338730	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NEK10:NM_199347:exon15:c.C1170T:p.A390A,;ANNO=splicing:NEK10
3	28557114	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZCWPW2(NM_001040432:c.784+2T>C)
3	29977686	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RBMS3:NM_001003793:exon11:c.C1049T:p.T350M,RBMS3:NM_001003792:exon10:c.C995T:p.T332M,RBMS3:NM_001177712:exon12:c.C1088T:p.T363M,RBMS3:NM_014483:exon11:c.C1049T:p.T350M,RBMS3:NM_001177711:exon11:c.C1049T:p.T350M,;ANNO=splicing:RBMS3
3	29977687	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RBMS3:NM_001003793:exon11:c.G1050A:p.T350T,RBMS3:NM_001003792:exon10:c.G996A:p.T332T,RBMS3:NM_001177712:exon12:c.G1089A:p.T363T,RBMS3:NM_014483:exon11:c.G1050A:p.T350T,RBMS3:NM_001177711:exon11:c.G1050A:p.T350T,;ANNO=splicing:RBMS3
3	30827898	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GADL1:NM_207359:exon13:c.G1251A:p.R417R,;ANNO=splicing:GADL1
3	32745454	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CNOT10:NM_015442:exon2:c.A117G:p.T39T,;ANNO=splicing:CNOT10
3	33416780	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FBXL2:NM_001171713:exon9:c.C454T:p.R152C,FBXL2:NM_012157:exon10:c.C658T:p.R220C,;ANNO=splicing:FBXL2
3	35781069	.	G	A	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARPP21:NM_016300:exon17:c.G1905A:p.Q635Q,;ANNO=splicing:ARPP21
3	36876398	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRANK1:NM_014831:exon20:c.A5386G:p.I1796V,;ANNO=splicing:TRANK1
3	37042541	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MLH1:NM_000249:exon3:c.T303G:p.G101G,;ANNO=splicing:MLH1(NM_001167617:c.12+2T>G)
3	37089011	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MLH1:NM_000249:exon16:c.A1733G:p.E578G,MLH1:NM_001167618:exon16:c.A1010G:p.E337G,MLH1:NM_001167619:exon15:c.A1010G:p.E337G,MLH1:NM_001167617:exon16:c.A1439G:p.E480G,;ANNO=splicing:MLH1
3	37100403	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LRRFIP2(NM_017724:c.786-2A>G,NM_001134369:c.858-2A>G,NM_006309:c.1749-2A>G)
3	37136284	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRRFIP2:NM_017724:exon6:c.G338A:p.R113Q,LRRFIP2:NM_001134369:exon6:c.G338A:p.R113Q,LRRFIP2:NM_006309:exon18:c.G1034A:p.R345Q,;ANNO=splicing:LRRFIP2
3	37144415	.	G	T	100	PASS	AC=106;STUDIES=6;MAC=106;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LRRFIP2:NM_006309:exon16:c.C873A:p.S291R,;ANNO=splicing:LRRFIP2
3	37292887	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:GOLGA4:NM_001172713:exon2:c.C74A:p.A25E,GOLGA4:NM_002078:exon2:c.C74A:p.A25E,;ANNO=nonsynonymous:GOLGA4:NM_001172713:exon2:c.C74T:p.A25V,GOLGA4:NM_002078:exon2:c.C74T:p.A25V,;ANNO=splicing:GOLGA4;ANNO=splicing:GOLGA4
3	37396678	.	G	A	100	PASS	AC=44;STUDIES=14;MAC=44;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GOLGA4:NM_001172713:exon22:c.G6708A:p.M2236I,GOLGA4:NM_002078:exon22:c.G6663A:p.M2221I,;ANNO=splicing:GOLGA4
3	37670678	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITGA9:NM_002207:exon16:c.C1690T:p.R564W,;ANNO=splicing:ITGA9
3	37670679	.	G	A	100	PASS	AC=78;STUDIES=13;MAC=78;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITGA9:NM_002207:exon16:c.G1691A:p.R564Q,;ANNO=splicing:ITGA9
3	37826568	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ITGA9:NM_002207:exon26:c.C2888T:p.T963M,;ANNO=splicing:ITGA9
3	38038568	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VILL:NM_015873:exon5:c.G451A:p.V151M,;ANNO=splicing:VILL
3	38042947	.	G	T	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VILL:NM_015873:exon11:c.G1183T:p.V395L,;ANNO=splicing:VILL
3	38043885	.	A	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VILL(NM_015873:c.1479-2A>C)
3	38049653	.	A	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLCD1:NM_006225:exon14:c.T2037A:p.G679G,PLCD1:NM_001130964:exon14:c.T2100A:p.G700G,;ANNO=splicing:PLCD1
3	38050534	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:PLCD1:NM_006225:exon11:c.C1722T:p.I574I,PLCD1:NM_001130964:exon11:c.C1785T:p.I595I,;ANNO=synonymous:PLCD1:NM_006225:exon11:c.C1722A:p.I574I,PLCD1:NM_001130964:exon11:c.C1785A:p.I595I,;ANNO=splicing:PLCD1;ANNO=splicing:PLCD1
3	38087184	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DLEC1:NM_007337:exon2:c.G562C:p.V188L,DLEC1:NM_007335:exon2:c.G562C:p.V188L,;ANNO=splicing:DLEC1
3	38135258	.	C	T	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DLEC1:NM_007337:exon12:c.C1919T:p.T640M,DLEC1:NM_007335:exon12:c.C1919T:p.T640M,;ANNO=splicing:DLEC1
3	38151053	.	G	A	100	PASS	AC=23;STUDIES=5;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DLEC1:NM_007337:exon22:c.G3260A:p.S1087N,DLEC1:NM_007335:exon22:c.G3260A:p.S1087N,;ANNO=splicing:DLEC1
3	38153852	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DLEC1:NM_007337:exon25:c.G3666A:p.T1222T,DLEC1:NM_007335:exon25:c.G3666A:p.T1222T,;ANNO=splicing:DLEC1
3	38158380	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DLEC1:NM_007337:exon29:c.G4179A:p.V1393V,DLEC1:NM_007335:exon29:c.G4179A:p.V1393V,;ANNO=splicing:DLEC1
3	38317885	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC22A13:NM_004256:exon8:c.C1345T:p.R449W,;ANNO=splicing:SLC22A13
3	38317886	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC22A13:NM_004256:exon8:c.G1346A:p.R449Q,;ANNO=splicing:SLC22A13
3	38348743	.	A	C	100	PASS	AC=153;STUDIES=8;MAC=153;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=1;ANNO=splicing:SLC22A14(NM_004803:c.516-2A>C)
3	38401831	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:XYLB:NM_005108:exon3:c.A142G:p.T48A,;ANNO=splicing:XYLB
3	38408300	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:XYLB:NM_005108:exon7:c.G509A:p.R170H,;ANNO=splicing:XYLB
3	38415954	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:XYLB:NM_005108:exon11:c.G849A:p.A283A,;ANNO=splicing:XYLB
3	38436996	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:XYLB:NM_005108:exon16:c.T1292C:p.M431T,;ANNO=splicing:XYLB
3	38539270	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EXOG(NM_005107:c.313+1G>A)
3	38545105	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EXOG(NM_005107:c.453-1G>A,NM_001145464:c.303-1G>A)
3	38743331	.	C	T	100	PASS	AC=49;STUDIES=8;MAC=49;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SCN10A:NM_006514:exon26:c.G4656A:p.A1552A,;ANNO=splicing:SCN10A
3	38755450	.	C	T	100	PASS	AC=49;STUDIES=13;MAC=49;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SCN10A:NM_006514:exon21:c.G3803A:p.R1268Q,;ANNO=splicing:SCN10A
3	38812769	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SCN10A(NM_006514:c.599+1G>A)
3	38812897	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCN10A:NM_006514:exon4:c.T472G:p.Y158D,;ANNO=splicing:SCN10A
3	38912182	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SCN11A:NM_014139:exon22:c.G3813A:p.E1271E,;ANNO=splicing:SCN11A
3	38966906	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SCN11A:NM_014139:exon5:c.C712T:p.R238C,;ANNO=splicing:SCN11A
3	39093508	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR48
3	39167024	.	G	A	100	PASS	AC=13;STUDIES=7;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTC21A(NM_145755:c.1416+1G>A,NM_001105513:c.1269+1G>A)
3	39170206	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTC21A(NM_145755:c.1701-2A>G,NM_001105513:c.1557-2A>G)
3	39170800	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TTC21A:NM_001105513:exon14:c.C2011T:p.R671C,TTC21A:NM_145755:exon15:c.C2155T:p.R719C,;ANNO=splicing:TTC21A
3	39170801	.	G	A	100	PASS	AC=30;STUDIES=6;MAC=30;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TTC21A:NM_001105513:exon14:c.G2012A:p.R671H,TTC21A:NM_145755:exon15:c.G2156A:p.R719H,;ANNO=splicing:TTC21A
3	39174543	.	G	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TTC21A:NM_001105513:exon19:c.G2440T:p.A814S,TTC21A:NM_145755:exon20:c.G2584T:p.A862S,;ANNO=splicing:TTC21A
3	39180114	.	T	C	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:TTC21A:NM_001105513:exon27:c.T3741A:p.D1247E,TTC21A:NM_145755:exon28:c.T3885A:p.D1295E,;ANNO=synonymous:TTC21A:NM_001105513:exon27:c.T3741C:p.D1247D,TTC21A:NM_145755:exon28:c.T3885C:p.D1295D,;ANNO=splicing:TTC21A;ANNO=splicing:TTC21A
3	39433345	.	G	A	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:SLC25A38:NM_017875:exon5:c.G458A:p.S153N,;ANNO=splicing:SLC25A38
3	39433512	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC25A38:NM_017875:exon5:c.G625C:p.D209H,;ANNO=splicing:SLC25A38
3	39448204	.	C	T	100	PASS	AC=581;STUDIES=2;MAC=581;MAF=0.295;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:RPSA
3	40464893	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ENTPD3(NM_001248:c.1215+1G>A)
3	41723244	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ULK4:NM_017886:exon28:c.G2833C:p.V945L,;ANNO=splicing:ULK4
3	41746550	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ULK4:NM_017886:exon27:c.C2780T:p.T927M,;ANNO=splicing:ULK4
3	42260986	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:TRAK1:NM_001042646:exon15:c.C1964A:p.A655E,;ANNO=nonsynonymous:TRAK1:NM_001042646:exon15:c.C1964T:p.A655V,;ANNO=splicing:TRAK1;ANNO=splicing:TRAK1
3	42573022	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VIPR1:NM_004624:exon8:c.G850A:p.G284R,;ANNO=splicing:VIPR1
3	42599189	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SEC22C(NM_001201584:c.526-1G>T,NM_001201572:c.526-1G>T,NM_032970:c.526-1G>T,NM_004206:c.526-1G>T)
3	42674094	.	T	C	100	PASS	AC=38;STUDIES=5;MAC=38;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NKTR:NM_005385:exon9:c.T552C:p.V184V,;ANNO=splicing:NKTR
3	42814668	.	A	T	100	PASS	AC=318;STUDIES=2;MAC=318;MAF=0.164;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:CCDC13
3	42954793	.	G	A	100	PASS	AC=116;STUDIES=14;MAC=116;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF662:NM_207404:exon4:c.G252A:p.P84P,;ANNO=splicing:ZNF662
3	44492807	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZNF445:NM_181489:exon4:c.C597T:p.S199S,;ANNO=splicing:ZNF445
3	44835707	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIF15(NM_020242:c.639-2A>G)
3	44842943	.	C	A	100	PASS	AC=141;STUDIES=7;MAC=141;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIF15:NM_020242:exon12:c.C1224A:p.D408E,;ANNO=splicing:KIF15
3	44905834	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TMEM42:NM_144638:exon2:c.C338T:p.S113L,;ANNO=splicing:TMEM42
3	44929287	.	G	C	100	PASS	AC=6931;STUDIES=21;MAC=6931;MAF=0.307;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:TGM4:NM_003241:exon3:c.G300C:p.E100D,;ANNO=splicing:TGM4
3	45877082	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LZTFL1:NM_020347:exon3:c.G323A:p.R108Q,;ANNO=splicing:LZTFL1
3	46010194	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FYCO1:NM_024513:exon8:c.C632T:p.T211I,;ANNO=splicing:FYCO1
3	46414384	.	G	C	100	PASS	AC=33;STUDIES=6;MAC=33;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:CCR5
3	46479430	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:LTF(NM_001199149:c.1966+1G>T,NM_002343:c.2098+1G>T);ANNO=splicing:LTF(NM_001199149:c.1966+1G>A,NM_002343:c.2098+1G>A)
3	46479431	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LTF:NM_001199149:exon16:c.C1966T:p.P656S,LTF:NM_002343:exon16:c.C2098T:p.P700S,;ANNO=splicing:LTF
3	46491985	.	C	T	100	PASS	AC=208;STUDIES=17;MAC=208;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LTF:NM_001199149:exon7:c.G750A:p.Q250Q,LTF:NM_002343:exon7:c.G882A:p.Q294Q,;ANNO=splicing:LTF
3	46492162	.	C	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LTF:NM_001199149:exon7:c.G573T:p.E191D,LTF:NM_002343:exon7:c.G705T:p.E235D,;ANNO=splicing:LTF
3	46501308	.	T	C	100	PASS	AC=783;STUDIES=12;MAC=783;MAF=0.055;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LTF:NM_002343:exon2:c.A45G:p.G15G,;ANNO=splicing:LTF
3	46586534	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LRRC2(NM_024512:c.333+2T>C)
3	46621344	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TDGF1(NM_001174136:c.290+1G>A,NM_003212:c.338+1G>A)
3	46717175	.	C	T	100	PASS	AC=205;STUDIES=20;MAC=205;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALS2CL:NM_001190707:exon20:c.G2188A:p.G730S,ALS2CL:NM_182775:exon5:c.G229A:p.G77S,ALS2CL:NM_147129:exon20:c.G2188A:p.G730S,;ANNO=splicing:ALS2CL
3	46935398	.	T	G	100	PASS	AC=25;STUDIES=2;MAC=25;MAF=0.072;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PTH1R:NM_001184744:exon3:c.T77G:p.V26G,PTH1R:NM_000316:exon4:c.T77G:p.V26G,;ANNO=splicing:PTH1R
3	47018127	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CCDC12:NM_144716:exon1:c.G135A:p.K45K,;ANNO=splicing:CCDC12
3	47047109	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NBEAL2:NM_015175:exon41:c.G6691A:p.G2231S,;ANNO=splicing:NBEAL2
3	47108560	.	T	C	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SETD2:NM_014159:exon13:c.A6109G:p.T2037A,;ANNO=splicing:SETD2
3	47448239	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTPN23:NM_015466:exon9:c.G806A:p.R269Q,;ANNO=splicing:PTPN23
3	47467487	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SCAP:NM_012235:exon7:c.C910T:p.R304W,;ANNO=splicing:SCAP
3	47896738	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAP4:NM_001134364:exon17:c.G3261T:p.K1087N,MAP4:NM_002375:exon17:c.G3261T:p.K1087N,;ANNO=splicing:MAP4
3	48336566	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NME6:NM_005793:exon5:c.G417A:p.S139S,;ANNO=splicing:NME6
3	48340012	.	T	C	100	PASS	AC=33;STUDIES=3;MAC=33;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:NME6:NM_005793:exon2:c.A19G:p.S7G,;ANNO=splicing:NME6
3	48369830	.	A	G	100	PASS	AC=32;STUDIES=12;MAC=32;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPINK8:NM_001080525:exon1:c.T2C:p.M1T,;ANNO=splicing:SPINK8
3	48456584	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLXNB1(NM_001130082:c.3966+1G>A,NM_002673:c.3966+1G>A)
3	48488219	.	C	T	100	PASS	AC=42;STUDIES=2;MAC=42;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ATRIP
3	48510971	.	C	T	100	PASS	AC=72;STUDIES=7;MAC=72;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SHISA5:NM_016479:exon5:c.G432A:p.P144P,;ANNO=splicing:SHISA5
3	48510972	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:SHISA5:NM_016479:exon5:c.C431T:p.P144L,;ANNO=nonsynonymous:SHISA5:NM_016479:exon5:c.C431G:p.P144R,;ANNO=splicing:SHISA5;ANNO=splicing:SHISA5
3	48520666	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SHISA5:NM_016479:exon3:c.C234T:p.S78S,;ANNO=splicing:SHISA5
3	48603069	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:COL7A1:NM_000094:exon114:c.C8440T:p.R2814X,;ANNO=splicing:COL7A1
3	48605933	.	G	A	100	PASS	AC=12;STUDIES=7;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL7A1:NM_000094:exon104:c.C7793T:p.P2598L,;ANNO=splicing:COL7A1
3	48608072	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:COL7A1:NM_000094:exon95:c.G7344A:p.V2448V,;ANNO=splicing:COL7A1
3	48611124	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL7A1:NM_000094:exon81:c.C6572T:p.P2191L,;ANNO=splicing:COL7A1
3	48611696	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL7A1:NM_000094:exon79:c.C6500T:p.P2167L,;ANNO=splicing:COL7A1
3	48613683	.	G	A	100	PASS	AC=26;STUDIES=10;MAC=26;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL7A1:NM_000094:exon70:c.C5819T:p.P1940L,;ANNO=splicing:COL7A1
3	48619376	.	C	G	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL7A1:NM_000094:exon47:c.G4636C:p.G1546R,;ANNO=splicing:COL7A1
3	48621919	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL7A1:NM_000094:exon35:c.C4118T:p.S1373L,;ANNO=splicing:COL7A1
3	48622168	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL7A1:NM_000094:exon34:c.C4046T:p.P1349L,;ANNO=splicing:COL7A1
3	48622343	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:COL7A1:NM_000094:exon33:c.G4011A:p.P1337P,;ANNO=splicing:COL7A1
3	48623124	.	G	A	100	PASS	AC=1053;STUDIES=21;MAC=1053;MAF=0.046;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL7A1:NM_000094:exon30:c.C3830T:p.P1277L,;ANNO=splicing:COL7A1
3	48623264	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL7A1:NM_000094:exon29:c.T3785C:p.M1262T,;ANNO=splicing:COL7A1
3	48625836	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:COL7A1:NM_000094:exon20:c.G2589A:p.P863P,;ANNO=splicing:COL7A1
3	48627033	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL7A1:NM_000094:exon16:c.C2169T:p.H723H,;ANNO=splicing:COL7A1
3	48627789	.	C	A	100	PASS	AC=124;STUDIES=19;MAC=124;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL7A1:NM_000094:exon15:c.G1907T:p.G636V,;ANNO=splicing:COL7A1
3	48637143	.	C	T	100	PASS	AC=25;STUDIES=9;MAC=25;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UQCRC1:NM_003365:exon12:c.G1303A:p.E435K,;ANNO=splicing:UQCRC1
3	48667073	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC26A6(NM_134426:c.1599+2T>C,NM_022911:c.1599+2T>C,NM_134263:c.1599+2T>C,NM_001040454:c.1536+2T>C)
3	48895940	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC25A20:NM_000387:exon8:c.G843A:p.A281A,;ANNO=splicing:SLC25A20
3	48896063	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC25A20:NM_000387:exon8:c.A720G:p.A240A,;ANNO=splicing:SLC25A20
3	49012411	.	C	T	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARIH2:NM_006321:exon11:c.C960T:p.H320H,;ANNO=splicing:ARIH2
3	49042479	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:P4HTM:NM_177938:exon6:c.G1073A:p.R358Q,P4HTM:NM_177939:exon6:c.G1073A:p.R358H,;ANNO=splicing:P4HTM
3	49060200	.	A	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NDUFAF3:NM_199069:exon3:c.A336T:p.I112I,NDUFAF3:NM_199073:exon3:c.A165T:p.I55I,NDUFAF3:NM_199070:exon3:c.A165T:p.I55I,NDUFAF3:NM_199074:exon3:c.A165T:p.I55I,;ANNO=splicing:NDUFAF3
3	49136421	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:QARS:NM_005051:exon19:c.C1760T:p.S587F,;ANNO=splicing:QARS
3	49168384	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LAMB2:NM_002292:exon7:c.T914C:p.M305T,;ANNO=splicing:LAMB2
3	49330030	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:USP4:NM_199443:exon14:c.C1744T:p.R582C,USP4:NM_003363:exon15:c.C1885T:p.R629C,;ANNO=splicing:USP4
3	49348052	.	C	T	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:USP4(NM_003363:c.954+1G>A,NM_199443:c.813+1G>A)
3	49455049	.	T	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AMT:NM_000481:exon9:c.A1136C:p.E379A,AMT:NM_001164712:exon9:c.A1136C:p.E379A,AMT:NM_001164711:exon8:c.A968C:p.E323A,AMT:NM_001164710:exon8:c.A1004C:p.E335A,;ANNO=splicing:AMT
3	49700310	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BSN:NM_003458:exon7:c.G10719A:p.A3573A,;ANNO=splicing:BSN
3	49713651	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:APEH:NM_001640:exon6:c.A605G:p.K202R,;ANNO=splicing:APEH
3	49723167	.	T	G	100	PASS	AC=99;STUDIES=2;MAC=99;MAF=0.043;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:MST1(NM_020998:c.1250-2A>C)
3	49723916	.	T	G	100	PASS	AC=203;STUDIES=3;MAC=203;MAF=0.057;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;HWE_FAILURES=2;ANNO=splicing:MST1(NM_020998:c.847-2A>C)
3	49724499	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MST1:NM_020998:exon6:c.C609T:p.A203A,;ANNO=splicing:MST1
3	49724798	.	T	G	100	PASS	AC=109;STUDIES=6;MAC=109;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:MST1:NM_020998:exon4:c.A469C:p.K157Q,;ANNO=splicing:MST1
3	49725184	.	G	A	100	PASS	AC=174;STUDIES=5;MAC=174;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:MST1:NM_020998:exon2:c.C241T:p.R81W,;ANNO=splicing:MST1
3	49736537	.	C	T	100	PASS	AC=54;STUDIES=7;MAC=54;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RNF123:NM_022064:exon10:c.C763T:p.R255C,;ANNO=splicing:RNF123
3	49737660	.	C	T	100	PASS	AC=168;STUDIES=13;MAC=168;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RNF123:NM_022064:exon13:c.C985T:p.R329C,;ANNO=splicing:RNF123
3	49828873	.	C	T	100	PASS	AC=18;STUDIES=3;MAC=18;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDHR4(NM_001007540:c.2311+1G>A)
3	49831237	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CDHR4:NM_001007540:exon11:c.C1482T:p.S494S,;ANNO=splicing:CDHR4
3	49843505	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UBA7(NM_003335:c.2808+1G>C)
3	49845170	.	G	A	100	PASS	AC=19;STUDIES=4;MAC=19;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UBA7:NM_003335:exon21:c.C2714T:p.T905M,;ANNO=splicing:UBA7
3	49850493	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UBA7(NM_003335:c.467+2T>C)
3	49881975	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TRAIP:NM_005879:exon4:c.A279G:p.K93K,;ANNO=splicing:TRAIP
3	49934714	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MST1R:NM_002447:exon7:c.C2182T:p.R728W,;ANNO=splicing:MST1R
3	49935646	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MST1R(NM_002447:c.1719-2A>G)
3	49939814	.	G	A	100	PASS	AC=39;STUDIES=4;MAC=39;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MST1R:NM_002447:exon1:c.C1229T:p.P410L,;ANNO=splicing:MST1R
3	50000117	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RBM6:NM_005777:exon2:c.C43T:p.R15C,;ANNO=splicing:RBM6
3	50091769	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RBM6:NM_005777:exon8:c.G1634A:p.C545Y,RBM6:NM_001167582:exon4:c.G68A:p.C23Y,;ANNO=splicing:RBM6
3	50141740	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RBM5:NM_005778:exon8:c.T627C:p.F209F,;ANNO=splicing:RBM5
3	50147036	.	G	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RBM5:NM_005778:exon15:c.G1193T:p.G398V,;ANNO=splicing:RBM5
3	50147120	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RBM5:NM_005778:exon15:c.C1277T:p.P426L,;ANNO=splicing:RBM5
3	50211665	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SEMA3F:NM_004186:exon5:c.G338T:p.G113V,;ANNO=splicing:SEMA3F
3	50289969	.	C	T	100	PASS	AC=61;STUDIES=12;MAC=61;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GNAI2:NM_002070:exon3:c.C302T:p.A101V,GNAI2:NM_001166425:exon3:c.C191T:p.A64V,;ANNO=splicing:GNAI2
3	50311342	.	A	G	100	PASS	AC=41;STUDIES=4;MAC=41;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SEMA3B(NM_004636:c.991-2A>G)
3	50324292	.	C	T	100	PASS	AC=61;STUDIES=7;MAC=61;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C3orf45:NM_153215:exon3:c.C360T:p.S120S,;ANNO=splicing:C3orf45
3	50327903	.	C	G	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IFRD2:NM_006764:exon3:c.G371C:p.G124A,;ANNO=splicing:IFRD2
3	50336292	.	A	G	100	PASS	AC=31;STUDIES=2;MAC=31;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:HYAL3
3	50389477	.	T	C	100	PASS	AC=114;STUDIES=18;MAC=114;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CYB561D2:NM_007022:exon3:c.T165C:p.A55A,;ANNO=splicing:CYB561D2
3	50513629	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CACNA2D2:NM_006030:exon2:c.A208G:p.M70V,CACNA2D2:NM_001005505:exon2:c.A208G:p.M70V,CACNA2D2:NM_001174051:exon2:c.A208G:p.M70V,;ANNO=splicing:CACNA2D2
3	51454241	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VPRBP:NM_001171904:exon16:c.C3441T:p.H1147H,VPRBP:NM_014703:exon17:c.C3444T:p.H1148H,;ANNO=splicing:VPRBP
3	51863322	.	G	A	100	PASS	AC=264;STUDIES=3;MAC=264;MAF=0.154;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:IQCF3
3	51970274	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RRP9:NM_004704:exon8:c.C734T:p.S245L,;ANNO=splicing:RRP9
3	51978793	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PARP3(NM_005485:c.501-1G>A,NM_001003931:c.522-1G>A)
3	51992365	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PCBP4:NM_033010:exon13:c.T924C:p.C308C,PCBP4:NM_033008:exon13:c.T924C:p.C308C,PCBP4:NM_020418:exon13:c.T795C:p.C265C,PCBP4:NM_001174100:exon14:c.T924C:p.C308C,;ANNO=splicing:PCBP4
3	51993427	.	C	T	100	PASS	AC=568;STUDIES=11;MAC=568;MAF=0.044;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PCBP4:NM_033010:exon9:c.G592A:p.G198S,PCBP4:NM_033008:exon9:c.G592A:p.G198S,PCBP4:NM_020418:exon9:c.G463A:p.G155S,PCBP4:NM_001174100:exon10:c.G592A:p.G198S,;ANNO=splicing:PCBP4
3	52022926	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACY1(NM_000666:c.1062-1G>A,NM_001198898:c.957-1G>A,NM_001198895:c.1062-1G>A,NM_001198897:c.867-1G>A,NM_001198896:c.846-1G>A)
3	52159128	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:POC1A(NM_015426:c.882+1G>A,NM_001161580:c.882+1G>A,NM_001161581:c.768+1G>A)
3	52238931	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ALAS1:NM_000688:exon6:c.T800C:p.M267T,ALAS1:NM_199166:exon5:c.T800C:p.M267T,;ANNO=splicing:ALAS1
3	52245566	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALAS1:NM_000688:exon10:c.G1598A:p.R533Q,ALAS1:NM_199166:exon9:c.G1598A:p.R533Q,;ANNO=splicing:ALAS1
3	52263216	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TWF2:NM_007284:exon9:c.T884C:p.I295T,;ANNO=splicing:TWF2
3	52360906	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DNAH1:NM_015512:exon5:c.A737C:p.K246T,;ANNO=splicing:DNAH1
3	52378506	.	G	A	100	PASS	AC=49;STUDIES=10;MAC=49;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DNAH1:NM_015512:exon9:c.G1287A:p.S429S,;ANNO=splicing:DNAH1
3	52381841	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAH1:NM_015512:exon12:c.C1957T:p.P653S,;ANNO=splicing:DNAH1
3	52410008	.	G	C	100	PASS	AC=133;STUDIES=8;MAC=133;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DNAH1:NM_015512:exon46:c.G7197C:p.V2399V,;ANNO=splicing:DNAH1
3	52426846	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAH1:NM_015512:exon65:c.G10279T:p.A3427S,;ANNO=splicing:DNAH1
3	52440269	.	C	T	100	PASS	AC=43;STUDIES=7;MAC=43;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BAP1:NM_004656:exon9:c.G783A:p.Q261Q,;ANNO=splicing:BAP1
3	52486123	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TNNC1:NM_003280:exon3:c.C201T:p.D67D,;ANNO=splicing:TNNC1
3	52519795	.	C	T	100	PASS	AC=30;STUDIES=11;MAC=30;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NISCH:NM_007184:exon15:c.C1655T:p.A552V,;ANNO=splicing:NISCH
3	52538565	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:STAB1:NM_015136:exon11:c.T1239C:p.N413N,;ANNO=splicing:STAB1
3	52541692	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:STAB1(NM_015136:c.2052+1G>C)
3	52549061	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:STAB1:NM_015136:exon36:c.G3864A:p.Q1288Q,;ANNO=splicing:STAB1
3	52551566	.	G	C	100	PASS	AC=56;STUDIES=14;MAC=56;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STAB1:NM_015136:exon44:c.G4564C:p.V1522L,;ANNO=splicing:STAB1
3	52557356	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:STAB1:NM_015136:exon64:c.T7139C:p.M2380T,;ANNO=splicing:STAB1
3	52561846	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NT5DC2:NM_022908:exon8:c.G823A:p.V275I,NT5DC2:NM_001134231:exon8:c.G934A:p.V312I,;ANNO=splicing:NT5DC2
3	52730675	.	C	T	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GLT8D1:NM_001010983:exon6:c.G330A:p.R110R,GLT8D1:NM_018446:exon5:c.G330A:p.R110R,GLT8D1:NM_152932:exon5:c.G330A:p.R110R,;ANNO=splicing:GLT8D1
3	52780749	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NEK4(NM_001193533:c.1410+1G>A,NM_003157:c.1677+1G>A)
3	52797487	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NEK4:NM_001193533:exon4:c.A553G:p.I185V,NEK4:NM_003157:exon5:c.A820G:p.I274V,;ANNO=splicing:NEK4
3	52817142	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITIH1(NM_002215:c.1099+1G>A,NM_001166434:c.673+1G>A,NM_001166436:c.235+1G>A,NM_001166435:c.235+1G>A)
3	52819061	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITIH1:NM_001166434:exon10:c.G983C:p.G328A,ITIH1:NM_001166435:exon8:c.G545C:p.G182A,ITIH1:NM_001166436:exon8:c.G545C:p.G182A,ITIH1:NM_002215:exon12:c.G1409C:p.G470A,;ANNO=splicing:ITIH1
3	52820450	.	G	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITIH1:NM_001166434:exon11:c.G1307A:p.R436Q,ITIH1:NM_001166435:exon9:c.G869A:p.R290Q,ITIH1:NM_001166436:exon9:c.G869A:p.R290Q,ITIH1:NM_002215:exon13:c.G1733A:p.R578Q,;ANNO=splicing:ITIH1
3	53137970	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RFT1:NM_052859:exon10:c.C1101T:p.S367S,;ANNO=splicing:RFT1
3	53164354	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RFT1:NM_052859:exon1:c.G63A:p.Q21Q,;ANNO=splicing:RFT1
3	53326100	.	T	C	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DCP1A:NM_018403:exon7:c.A1382G:p.Q461R,;ANNO=splicing:DCP1A
3	53736836	.	T	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CACNA1D:NM_001128839:exon9:c.T1389G:p.N463K,CACNA1D:NM_001128840:exon9:c.T1389G:p.N463K,CACNA1D:NM_000720:exon9:c.T1389G:p.N463K,;ANNO=splicing:CACNA1D
3	53752414	.	T	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CACNA1D:NM_001128839:exon10:c.T1477A:p.C493S,CACNA1D:NM_001128840:exon10:c.T1477A:p.C493S,CACNA1D:NM_000720:exon10:c.T1477A:p.W493R,;ANNO=splicing:CACNA1D
3	53752710	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CACNA1D:NM_000720:exon11:c.T1480C:p.C494R,;ANNO=splicing:CACNA1D
3	53856668	.	G	A	100	PASS	AC=134;STUDIES=6;MAC=134;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CHDH:NM_018397:exon4:c.C705T:p.G235G,;ANNO=splicing:CHDH
3	53886024	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IL17RB(NM_018725:c.226-2A>C)
3	53889368	.	G	A	100	PASS	AC=93;STUDIES=14;MAC=93;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IL17RB:NM_018725:exon6:c.G529A:p.G177R,;ANNO=splicing:IL17RB
3	53925798	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SELK:NM_021237:exon1:c.C18T:p.N6N,;ANNO=splicing:SELK
3	54420742	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CACNA2D3:NM_018398:exon4:c.C322T:p.R108C,;ANNO=splicing:CACNA2D3
3	54952918	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LRTM1:NM_020678:exon3:c.G606A:p.G202G,;ANNO=splicing:LRTM1
3	55043415	.	G	T	100	PASS	AC=24;STUDIES=8;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CACNA2D3:NM_018398:exon34:c.G2820T:p.L940F,;ANNO=splicing:CACNA2D3
3	55922576	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ERC2:NM_015576:exon13:c.T2399C:p.I800T,;ANNO=splicing:ERC2
3	56628055	.	A	G	100	PASS	AC=162;STUDIES=13;MAC=162;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC66:NM_001141947:exon10:c.A1403G:p.Q468R,CCDC66:NM_001012506:exon10:c.A1301G:p.Q434R,;ANNO=splicing:CCDC66
3	57144338	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IL17RD:NM_017563:exon4:c.C312G:p.G104G,;ANNO=splicing:IL17RD
3	57232780	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HESX1(NM_003865:c.357+1G>A)
3	57269693	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:APPL1(NM_012096:c.153+1G>T)
3	57293057	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:APPL1:NM_012096:exon16:c.C1432T:p.R478C,;ANNO=splicing:APPL1
3	57616443	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM116A:NM_152678:exon17:c.C1516T:p.R506W,;ANNO=splicing:FAM116A
3	57832925	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLMAP:NM_007159:exon4:c.G421A:p.V141I,;ANNO=splicing:SLMAP
3	57882601	.	C	T	100	PASS	AC=6290;STUDIES=22;MAC=6290;MAF=0.260;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLMAP:NM_007159:exon14:c.C1341T:p.D447D,;ANNO=splicing:SLMAP
3	58112488	.	C	T	100	PASS	AC=7735;STUDIES=20;MAC=7735;MAF=0.354;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=synonymous:FLNB:NM_001164317:exon24:c.C4221T:p.P1407P,FLNB:NM_001164319:exon24:c.C4221T:p.P1407P,FLNB:NM_001457:exon24:c.C4221T:p.P1407P,FLNB:NM_001164318:exon24:c.C4221T:p.P1407P,;ANNO=splicing:FLNB
3	58112489	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:FLNB:NM_001164317:exon24:c.G4222A:p.G1408S,FLNB:NM_001164319:exon24:c.G4222A:p.G1408S,FLNB:NM_001457:exon24:c.G4222A:p.G1408S,FLNB:NM_001164318:exon24:c.G4222A:p.G1408S,;ANNO=splicing:FLNB
3	58120498	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FLNB:NM_001164317:exon28:c.C4763T:p.T1588M,FLNB:NM_001164319:exon27:c.C4670T:p.T1557M,FLNB:NM_001457:exon27:c.C4670T:p.T1557M,FLNB:NM_001164318:exon27:c.C4670T:p.T1557M,;ANNO=splicing:FLNB
3	58127622	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FLNB:NM_001164317:exon31:c.C5240T:p.P1747L,FLNB:NM_001457:exon30:c.C5147T:p.P1716L,FLNB:NM_001164318:exon30:c.C5147T:p.P1716L,;ANNO=splicing:FLNB
3	58368242	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PXK:NM_017771:exon4:c.T203C:p.I68T,;ANNO=splicing:PXK
3	58376875	.	T	G	100	PASS	AC=55;STUDIES=3;MAC=55;MAF=0.078;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PXK:NM_017771:exon6:c.T468G:p.G156G,;ANNO=splicing:PXK
3	58395886	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:PXK:NM_017771:exon16:c.G1465A:p.A489T,;ANNO=splicing:PXK
3	58512384	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACOX2(NM_003500:c.1155-1G>T)
3	62204525	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PTPRG:NM_002841:exon13:c.C2156T:p.A719V,;ANNO=splicing:PTPRG
3	62451042	.	G	A	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CADPS:NM_183393:exon23:c.C3399T:p.T1133T,CADPS:NM_183394:exon24:c.C3519T:p.T1173T,CADPS:NM_003716:exon26:c.C3636T:p.T1212T,;ANNO=splicing:CADPS
3	63823653	.	T	C	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:THOC7:NM_025075:exon4:c.A351G:p.Q117Q,;ANNO=splicing:THOC7
3	63999283	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PSMD6:NM_014814:exon6:c.C827T:p.A276V,;ANNO=splicing:PSMD6
3	65344826	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MAGI1:NM_015520:exon24:c.G3720A:p.A1240A,;ANNO=splicing:MAGI1
3	65464267	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAGI1:NM_015520:exon4:c.G757A:p.A253T,MAGI1:NM_004742:exon4:c.G757A:p.A253T,MAGI1:NM_001033057:exon4:c.G757A:p.A253T,;ANNO=splicing:MAGI1
3	66434696	.	A	G	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRIG1:NM_015541:exon14:c.T1790C:p.V597A,;ANNO=splicing:LRIG1
3	66444465	.	G	A	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LRIG1:NM_015541:exon12:c.C1467T:p.C489C,;ANNO=splicing:LRIG1
3	66455701	.	C	G	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRIG1:NM_015541:exon9:c.G1081C:p.D361H,;ANNO=splicing:LRIG1
3	66463437	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRIG1:NM_015541:exon6:c.G649A:p.D217N,;ANNO=splicing:LRIG1
3	67058344	.	A	T	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:KBTBD8(NM_032505:c.1342-2A>C);ANNO=splicing:KBTBD8(NM_032505:c.1342-2A>T)
3	69027587	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C3orf64(NM_173654:c.1082-1G>A)
3	69031963	.	T	C	100	PASS	AC=414;STUDIES=21;MAC=414;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C3orf64:NM_173654:exon12:c.A961G:p.R321G,;ANNO=splicing:C3orf64
3	69073206	.	T	C	100	PASS	AC=45;STUDIES=5;MAC=45;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TMF1:NM_007114:exon16:c.A3138G:p.R1046R,;ANNO=splicing:TMF1
3	69112288	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UBA3:NM_198195:exon8:c.A496G:p.I166V,UBA3:NM_003968:exon9:c.A538G:p.I180V,;ANNO=splicing:UBA3
3	69167851	.	G	T	100	PASS	AC=357;STUDIES=20;MAC=357;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LMOD3:NM_198271:exon2:c.C1655A:p.P552H,;ANNO=splicing:LMOD3
3	69239047	.	G	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FRMD4B:NM_015123:exon18:c.C1771A:p.P591T,;ANNO=splicing:FRMD4B
3	69265500	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FRMD4B:NM_015123:exon11:c.G790A:p.D264N,;ANNO=splicing:FRMD4B
3	69990481	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MITF:NM_198158:exon4:c.C440T:p.T147M,MITF:NM_001184967:exon5:c.C605T:p.T202M,MITF:NM_198159:exon5:c.C761T:p.T254M,MITF:NM_198178:exon4:c.C272T:p.T91M,MITF:NM_006722:exon5:c.C758T:p.T253M,MITF:NM_000248:exon4:c.C440T:p.T147M,MITF:NM_198177:exon5:c.C713T:p.T238M,;ANNO=splicing:MITF
3	72890350	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SHQ1:NM_018130:exon4:c.G332A:p.G111D,;ANNO=splicing:SHQ1
3	73114003	.	T	C	100	PASS	AC=3002;STUDIES=22;MAC=3002;MAF=0.127;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:PPP4R2:NM_174907:exon8:c.T639C:p.S213S,;ANNO=splicing:PPP4R2
3	74385683	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CNTN3:NM_020872:exon11:c.G1491A:p.T497T,;ANNO=splicing:CNTN3
3	75790427	.	C	T	100	PASS	AC=29;STUDIES=3;MAC=29;MAF=0.193;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:ZNF717:NM_001128223:exon4:c.G277A:p.A93T,;ANNO=splicing:ZNF717
3	77629268	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ROBO2:NM_001128929:exon15:c.C2440T:p.R814W,;ANNO=splicing:ROBO2
3	78663949	.	G	A	100	PASS	AC=623;STUDIES=12;MAC=623;MAF=0.038;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ROBO1:NM_002941:exon28:c.C4284T:p.G1428G,ROBO1:NM_133631:exon26:c.C4149T:p.G1383G,ROBO1:NM_001145845:exon26:c.C3984T:p.G1328G,;ANNO=splicing:ROBO1
3	81698005	.	A	G	100	PASS	AC=13;STUDIES=7;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GBE1(NM_000158:c.691+2T>C)
3	85851198	.	C	T	100	PASS	AC=545;STUDIES=22;MAC=545;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CADM2:NM_001167674:exon2:c.C63T:p.G21G,CADM2:NM_001167675:exon3:c.C90T:p.G30G,CADM2:NM_153184:exon2:c.C69T:p.G23G,;ANNO=splicing:CADM2
3	85851345	.	A	G	100	PASS	AC=7;STUDIES=7;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CADM2:NM_001167674:exon2:c.A210G:p.K70K,CADM2:NM_001167675:exon3:c.A237G:p.K79K,CADM2:NM_153184:exon2:c.A216G:p.K72K,;ANNO=splicing:CADM2
3	85985007	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CADM2:NM_001167674:exon6:c.T764C:p.L255P,CADM2:NM_001167675:exon7:c.T791C:p.L264P,CADM2:NM_153184:exon6:c.T770C:p.L257P,;ANNO=splicing:CADM2
3	88190795	.	G	A	100	PASS	AC=123;STUDIES=10;MAC=123;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZNF654:NM_018293:exon2:c.G1739A:p.S580N,;ANNO=splicing:ZNF654
3	89480301	.	A	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EPHA3:NM_005233:exon13:c.A2138C:p.K713T,;ANNO=splicing:EPHA3
3	93598157	.	A	G	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:PROS1:NM_000313:exon13:c.T1494C:p.N498N,;ANNO=splicing:PROS1
3	93643085	.	T	C	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:PROS1:NM_000313:exon3:c.A258G:p.L86L,;ANNO=splicing:PROS1
3	93646095	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PROS1:NM_000313:exon2:c.C233T:p.T78M,;ANNO=splicing:PROS1
3	97726747	.	T	A	100	PASS	AC=14875;STUDIES=17;MAC=3417;MAF=0.187;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=stoploss:GABRR3:NM_001105580:exon6:c.A615T:p.X205Y,;ANNO=splicing:GABRR3
3	97744411	.	C	T	100	PASS	AC=72;STUDIES=5;MAC=72;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GABRR3:NM_001105580:exon2:c.G238A:p.G80R,;ANNO=splicing:GABRR3
3	97851543	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:OR5H1:NM_001005338:exon1:c.T2C:p.M1T,;ANNO=splicing:OR5H1
3	98109510	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OR5K3:NM_001005516:exon1:c.A1C:p.M1L,;ANNO=splicing:OR5K3
3	98300354	.	A	C	100	PASS	AC=59;STUDIES=3;MAC=59;MAF=0.105;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:CPOX:NM_000097:exon6:c.T1174G:p.Y392D,;ANNO=splicing:CPOX
3	98600385	.	T	C	100	PASS	AC=870;STUDIES=21;MAC=870;MAF=0.038;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DCBLD2:NM_080927:exon2:c.A432G:p.I144M,;ANNO=splicing:DCBLD2
3	100013931	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TBC1D23:NM_001199198:exon6:c.C601T:p.L201F,TBC1D23:NM_018309:exon6:c.C601T:p.L201F,;ANNO=splicing:TBC1D23
3	100014146	.	A	G	100	PASS	AC=34;STUDIES=7;MAC=34;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TBC1D23:NM_001199198:exon7:c.A726G:p.K242K,TBC1D23:NM_018309:exon7:c.A726G:p.K242K,;ANNO=splicing:TBC1D23
3	100023731	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TBC1D23:NM_001199198:exon12:c.G1305A:p.M435I,TBC1D23:NM_018309:exon12:c.G1305A:p.M435I,;ANNO=splicing:TBC1D23
3	100073616	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NIT2:NM_020202:exon9:c.G684C:p.W228C,;ANNO=splicing:NIT2
3	100352109	.	C	T	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPR128:NM_032787:exon4:c.C335T:p.A112V,;ANNO=splicing:GPR128
3	100352110	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GPR128:NM_032787:exon4:c.G336A:p.A112A,;ANNO=splicing:GPR128
3	100373679	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GPR128:NM_032787:exon12:c.G1380A:p.R460R,;ANNO=splicing:GPR128
3	100378687	.	G	A	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPR128:NM_032787:exon14:c.G1979A:p.S660N,;ANNO=splicing:GPR128
3	100515254	.	A	G	100	PASS	AC=15;STUDIES=7;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ABI3BP:NM_015429:exon21:c.T1806C:p.P602P,;ANNO=splicing:ABI3BP
3	101066717	.	T	A	100	PASS	AC=8223;STUDIES=22;MAC=8223;MAF=0.340;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SENP7:NM_020654:exon13:c.A1836T:p.Q612H,SENP7:NM_001077203:exon12:c.A1641T:p.Q547H,;ANNO=splicing:SENP7
3	102176697	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZPLD1:NM_175056:exon5:c.C630T:p.N210N,;ANNO=splicing:ZPLD1
3	102187979	.	G	A	100	PASS	AC=60;STUDIES=15;MAC=60;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZPLD1:NM_175056:exon8:c.G981A:p.P327P,;ANNO=splicing:ZPLD1
3	105253507	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ALCAM:NM_001627:exon6:c.C548T:p.A183V,;ANNO=splicing:ALCAM
3	105258946	.	A	G	100	PASS	AC=25;STUDIES=7;MAC=25;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ALCAM:NM_001627:exon7:c.A858G:p.P286P,;ANNO=splicing:ALCAM
3	107776415	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CD47:NM_198793:exon7:c.G786A:p.A262A,CD47:NM_001777:exon7:c.G786A:p.A262A,;ANNO=splicing:CD47
3	107777185	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CD47:NM_198793:exon6:c.G783C:p.A261A,CD47:NM_001777:exon6:c.G783C:p.A261A,;ANNO=splicing:CD47
3	107932868	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IFT57:NM_018010:exon4:c.G495A:p.R165R,;ANNO=splicing:IFT57
3	108021333	.	G	A	100	PASS	AC=172;STUDIES=2;MAC=172;MAF=0.088;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:HHLA2
3	108077008	.	G	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HHLA2:NM_007072:exon6:c.G1003A:p.E335K,;ANNO=splicing:HHLA2
3	108100406	.	C	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYH15:NM_014981:exon42:c.G5827T:p.V1943F,;ANNO=splicing:MYH15
3	108103534	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MYH15:NM_014981:exon40:c.G5691A:p.A1897A,;ANNO=splicing:MYH15
3	108117483	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYH15(NM_014981:c.5193+1G>A)
3	108127252	.	C	A	100	PASS	AC=42;STUDIES=4;MAC=42;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYH15(NM_014981:c.4555-1G>T)
3	108133277	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYH15(NM_014981:c.4008-2A>G)
3	108147728	.	T	C	100	PASS	AC=5707;STUDIES=22;MAC=5707;MAF=0.240;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYH15:NM_014981:exon28:c.A3373G:p.T1125A,;ANNO=splicing:MYH15
3	108218302	.	G	A	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYH15:NM_014981:exon6:c.C584T:p.T195I,;ANNO=splicing:MYH15
3	108271082	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA1524:NM_020890:exon20:c.A2546G:p.K849R,;ANNO=splicing:KIAA1524
3	108300260	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA1524(NM_020890:c.549+2T>G)
3	108335504	.	C	T	100	PASS	AC=266;STUDIES=8;MAC=266;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DZIP3:NM_014648:exon5:c.C375T:p.T125T,;ANNO=splicing:DZIP3
3	108365497	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DZIP3(NM_014648:c.1792+1G>A)
3	108388597	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DZIP3(NM_014648:c.2492+1G>T)
3	108634973	.	C	A	100	PASS	AC=6720;STUDIES=19;MAC=6720;MAF=0.307;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GUCA1C(NM_005459:c.442+1G>T)
3	108635060	.	G	A	100	PASS	AC=331;STUDIES=12;MAC=331;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GUCA1C:NM_005459:exon3:c.C356T:p.A119V,;ANNO=splicing:GUCA1C
3	108780836	.	T	A	100	PASS	AC=133;STUDIES=18;MAC=133;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:MORC1:NM_014429:exon11:c.A965T:p.K322M,;ANNO=splicing:MORC1
3	109031393	.	T	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:DPPA2:NM_138815:exon3:c.A180T:p.P60P,;ANNO=synonymous:DPPA2:NM_138815:exon3:c.A180G:p.P60P,;ANNO=splicing:DPPA2;ANNO=splicing:DPPA2
3	109049658	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DPPA4:NM_018189:exon5:c.A392T:p.D131V,;ANNO=splicing:DPPA4
3	111342600	.	G	A	100	PASS	AC=52;STUDIES=5;MAC=52;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:CD96(NM_005816:c.1180-1G>A,NM_198196:c.1228-1G>A);ANNO=splicing:CD96(NM_005816:c.1180-1G>C,NM_198196:c.1228-1G>C)
3	111343181	.	C	A	100	PASS	AC=33;STUDIES=5;MAC=33;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CD96:NM_005816:exon10:c.C1251A:p.P417P,CD96:NM_198196:exon11:c.C1299A:p.P433P,;ANNO=splicing:CD96
3	111343251	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CD96:NM_005816:exon10:c.T1321C:p.S441P,CD96:NM_198196:exon11:c.T1369C:p.S457P,;ANNO=splicing:CD96
3	111766585	.	G	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMPRSS7(NM_001042575:c.352-1G>A)
3	111831992	.	G	A	100	PASS	AC=14;STUDIES=8;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C3orf52:NM_024616:exon5:c.G649A:p.E217K,;ANNO=splicing:C3orf52
3	111846865	.	A	G	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GCET2:NM_001190259:exon3:c.T148C:p.W50R,GCET2:NM_152785:exon3:c.T142C:p.W48R,;ANNO=splicing:GCET2
3	111899409	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC9A10(NM_183061:c.2748+2T>C)
3	111939974	.	C	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC9A10(NM_183061:c.1670+1G>T)
3	112546214	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CD200R1L:NM_001008784:exon3:c.G430A:p.V144I,CD200R1L:NM_001199215:exon4:c.G367A:p.V123I,;ANNO=splicing:CD200R1L
3	112548167	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CD200R1L:NM_001008784:exon2:c.A111G:p.E37E,CD200R1L:NM_001199215:exon3:c.A48G:p.E16E,;ANNO=splicing:CD200R1L
3	112693638	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CD200R1:NM_138939:exon1:c.G67A:p.E23K,CD200R1:NM_170780:exon1:c.G67A:p.A23T,CD200R1:NM_138940:exon1:c.G67A:p.A23T,CD200R1:NM_138806:exon1:c.G67A:p.E23K,;ANNO=splicing:CD200R1
3	112987291	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BOC:NM_033254:exon5:c.A522C:p.R174S,;ANNO=splicing:BOC
3	112993223	.	C	T	100	PASS	AC=86;STUDIES=15;MAC=86;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BOC:NM_033254:exon9:c.C1236T:p.S412S,;ANNO=splicing:BOC
3	113118847	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WDR52:NM_001164496:exon13:c.G1475T:p.C492F,WDR52:NM_018338:exon13:c.G1475T:p.C492F,;ANNO=splicing:WDR52
3	113175984	.	G	A	100	PASS	AC=176;STUDIES=20;MAC=176;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SPICE1:NM_144718:exon13:c.C1656T:p.D552D,;ANNO=splicing:SPICE1
3	113252090	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SIDT1:NM_017699:exon1:c.G222C:p.Q74H,;ANNO=splicing:SIDT1
3	113285388	.	T	G	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SIDT1:NM_017699:exon2:c.T344G:p.L115R,;ANNO=splicing:SIDT1
3	113286556	.	C	T	100	PASS	AC=20;STUDIES=11;MAC=20;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SIDT1:NM_017699:exon3:c.C514T:p.R172W,;ANNO=splicing:SIDT1
3	113286557	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SIDT1:NM_017699:exon3:c.G515A:p.R172Q,;ANNO=splicing:SIDT1
3	113311894	.	T	C	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SIDT1:NM_017699:exon10:c.T1044C:p.D348D,;ANNO=splicing:SIDT1
3	113323755	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SIDT1(NM_017699:c.1337-2A>G)
3	113327382	.	C	T	100	PASS	AC=95;STUDIES=9;MAC=95;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SIDT1:NM_017699:exon17:c.C1719T:p.F573F,;ANNO=splicing:SIDT1
3	113330934	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SIDT1:NM_017699:exon19:c.T1859C:p.V620A,;ANNO=splicing:SIDT1
3	113344949	.	G	A	100	PASS	AC=23;STUDIES=6;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SIDT1:NM_017699:exon24:c.G2308A:p.G770R,;ANNO=splicing:SIDT1
3	113441818	.	T	C	100	PASS	AC=427;STUDIES=18;MAC=427;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NAA50:NM_025146:exon4:c.A267G:p.G89G,;ANNO=splicing:NAA50
3	113619994	.	G	T	100	PASS	AC=28;STUDIES=4;MAC=28;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GRAMD1C(NM_017577:c.656+1G>T,NM_001172105:c.41+1G>T)
3	113653278	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GRAMD1C(NM_017577:c.1352-1G>A,NM_001172105:c.737-1G>A)
3	113666020	.	G	C	100	PASS	AC=679;STUDIES=2;MAC=679;MAF=0.356;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:GRAMD1C
3	113667642	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ZDHHC23
3	113697179	.	C	A	100	PASS	AC=32;STUDIES=2;MAC=32;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA1407(NM_020817:c.2460-1G>T)
3	113775225	.	T	G	100	PASS	AC=17;STUDIES=10;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:KIAA1407:NM_020817:exon1:c.A89G:p.K30R,;ANNO=nonsynonymous:KIAA1407:NM_020817:exon1:c.A89C:p.K30T,;ANNO=splicing:KIAA1407;ANNO=splicing:KIAA1407
3	113953480	.	T	G	100	PASS	AC=76;STUDIES=2;MAC=76;MAF=0.040;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ZNF80
3	115394860	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GAP43:NM_001130064:exon3:c.G139T:p.V47F,GAP43:NM_002045:exon2:c.G31T:p.V11F,;ANNO=splicing:GAP43
3	118864997	.	A	G	100	PASS	AC=505;STUDIES=8;MAC=505;MAF=0.067;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:C3orf30
3	118905562	.	G	A	100	PASS	AC=36;STUDIES=2;MAC=36;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:UPK1B
3	118906822	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UPK1B:NM_006952:exon3:c.G270A:p.A90A,;ANNO=splicing:UPK1B
3	118913244	.	A	G	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:UPK1B:NM_006952:exon6:c.A647C:p.Q216P,;ANNO=nonsynonymous:UPK1B:NM_006952:exon6:c.A647G:p.Q216R,;ANNO=splicing:UPK1B;ANNO=splicing:UPK1B
3	119236053	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TIMMDC1:NM_016589:exon6:c.A598G:p.T200A,;ANNO=splicing:TIMMDC1
3	119343970	.	G	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLA1A(NM_001206961:c.493-1G>C,NM_001206960:c.964-1G>C,NM_015900:c.1012-1G>C)
3	119347549	.	C	G	100	PASS	AC=24;STUDIES=5;MAC=24;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLA1A:NM_001206961:exon9:c.C604G:p.P202A,PLA1A:NM_015900:exon10:c.C1123G:p.P375A,PLA1A:NM_001206960:exon10:c.C1075G:p.P359A,;ANNO=splicing:PLA1A
3	119348231	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PLA1A:NM_001206961:exon10:c.A768G:p.R256R,PLA1A:NM_015900:exon11:c.A1287G:p.R429R,PLA1A:NM_001206960:exon11:c.A1239G:p.R413R,;ANNO=splicing:PLA1A
3	119378781	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:POPDC2:NM_022135:exon1:c.C490T:p.R164W,;ANNO=splicing:POPDC2
3	119422069	.	G	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C3orf15:NM_033364:exon1:c.G124C:p.D42H,;ANNO=splicing:C3orf15
3	119426409	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C3orf15(NM_033364:c.359+1G>A)
3	119485949	.	A	T	100	PASS	AC=430;STUDIES=2;MAC=430;MAF=0.219;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:C3orf15
3	119533824	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NR1I2(NM_033013:c.683-2A>G,NM_003889:c.794-2A>G,NM_022002:c.911-2A>G)
3	119535916	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NR1I2:NM_003889:exon9:c.T1162C:p.F388L,NR1I2:NM_022002:exon9:c.T1279C:p.F427L,NR1I2:NM_033013:exon9:c.T1051C:p.F351L,;ANNO=splicing:NR1I2
3	119582452	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GSK3B:NM_002093:exon10:c.G949T:p.V317F,GSK3B:NM_001146156:exon9:c.G910T:p.V304F,;ANNO=splicing:GSK3B
3	120118730	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FSTL1:NM_007085:exon10:c.G882A:p.Q294Q,;ANNO=splicing:FSTL1
3	120121656	.	G	A	100	PASS	AC=229;STUDIES=17;MAC=229;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FSTL1:NM_007085:exon9:c.C804T:p.D268D,;ANNO=splicing:FSTL1
3	120123818	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FSTL1:NM_007085:exon7:c.A463G:p.N155D,;ANNO=splicing:FSTL1
3	121151264	.	C	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:POLQ:NM_199420:exon30:c.G7660A:p.V2554I,;ANNO=splicing:POLQ
3	121151879	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:POLQ:NM_199420:exon29:c.A7545G:p.G2515G,;ANNO=splicing:POLQ
3	121155122	.	C	T	100	PASS	AC=447;STUDIES=21;MAC=447;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:POLQ:NM_199420:exon28:c.G7390A:p.A2464T,;ANNO=splicing:POLQ
3	121191013	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:POLQ(NM_199420:c.6543-2A>G)
3	121228551	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:POLQ(NM_199420:c.1816-1G>A)
3	121260325	.	A	G	100	PASS	AC=58;STUDIES=15;MAC=58;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:POLQ:NM_199420:exon3:c.T345C:p.A115A,;ANNO=splicing:POLQ
3	121351913	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HCLS1(NM_005335:c.1008+1G>T)
3	121354583	.	G	A	100	PASS	AC=5041;STUDIES=21;MAC=5041;MAF=0.224;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:HCLS1:NM_005335:exon9:c.C690T:p.A230A,;ANNO=splicing:HCLS1
3	121388060	.	G	A	100	PASS	AC=17;STUDIES=6;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GOLGB1:NM_004487:exon18:c.C9305T:p.A3102V,;ANNO=splicing:GOLGB1
3	121500720	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IQCB1:NM_001023570:exon13:c.C1280A:p.A427E,IQCB1:NM_001023571:exon10:c.C881A:p.A294E,;ANNO=splicing:IQCB1
3	121518221	.	A	G	100	PASS	AC=45;STUDIES=8;MAC=45;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IQCB1:NM_001023570:exon8:c.T588C:p.S196S,;ANNO=splicing:IQCB1
3	121615340	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC15A2:NM_001145998:exon2:c.G193T:p.A65S,SLC15A2:NM_021082:exon2:c.G193T:p.A65S,;ANNO=splicing:SLC15A2
3	121641710	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:SLC15A2(NM_021082:c.867+2T>C,NM_001145998:c.774+2T>C);ANNO=splicing:SLC15A2(NM_021082:c.867+2T>G,NM_001145998:c.774+2T>G)
3	121641888	.	A	G	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC15A2:NM_001145998:exon9:c.A776G:p.K259R,SLC15A2:NM_021082:exon10:c.A869G:p.K290R,;ANNO=splicing:SLC15A2
3	121642070	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC15A2:NM_001145998:exon10:c.G866A:p.G289D,SLC15A2:NM_021082:exon11:c.G959A:p.G320D,;ANNO=splicing:SLC15A2
3	122121729	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM162A:NM_014367:exon2:c.C157T:p.R53C,;ANNO=splicing:FAM162A
3	122123211	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM162A(NM_014367:c.263+1G>A)
3	122274134	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PARP9:NM_001146103:exon4:c.C884T:p.T295M,PARP9:NM_001146102:exon4:c.C989T:p.T330M,PARP9:NM_001146105:exon4:c.C884T:p.T295M,PARP9:NM_031458:exon4:c.C989T:p.T330M,PARP9:NM_001146106:exon4:c.C884T:p.T295M,PARP9:NM_001146104:exon4:c.C884T:p.T295M,;ANNO=splicing:PARP9
3	122278454	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PARP9:NM_001146103:exon2:c.T14C:p.M5T,PARP9:NM_001146102:exon2:c.T14C:p.M5T,PARP9:NM_001146105:exon2:c.T14C:p.M5T,PARP9:NM_031458:exon2:c.T14C:p.M5T,PARP9:NM_001146106:exon2:c.T14C:p.M5T,PARP9:NM_001146104:exon2:c.T14C:p.M5T,;ANNO=splicing:PARP9
3	122289303	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DTX3L:NM_138287:exon4:c.A1937G:p.E646G,;ANNO=splicing:DTX3L
3	122404166	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PARP14(NM_017554:c.321+1G>A)
3	122418238	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PARP14:NM_017554:exon6:c.G837A:p.V279V,;ANNO=splicing:PARP14
3	122552162	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DIRC2(NM_032839:c.703-2A>G)
3	122641088	.	G	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SEMA5B:NM_001031702:exon11:c.C1479G:p.T493T,;ANNO=splicing:SEMA5B
3	122667353	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SEMA5B:NM_001031702:exon3:c.G328T:p.D110Y,;ANNO=splicing:SEMA5B
3	122679987	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:SEMA5B:NM_001031702:exon2:c.G124T:p.G42C,;ANNO=nonsynonymous:SEMA5B:NM_001031702:exon2:c.G124A:p.G42S,;ANNO=splicing:SEMA5B;ANNO=splicing:SEMA5B
3	123331143	.	T	C	100	PASS	AC=579;STUDIES=2;MAC=579;MAF=0.293;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:MYLK
3	123376274	.	A	C	100	PASS	AC=71;STUDIES=5;MAC=71;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYLK:NM_053025:exon24:c.T3987G:p.D1329E,MYLK:NM_053026:exon23:c.T3780G:p.D1260E,MYLK:NM_053027:exon24:c.T3987G:p.D1329E,MYLK:NM_053028:exon23:c.T3780G:p.D1260E,;ANNO=splicing:MYLK
3	123420286	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYLK:NM_053025:exon17:c.C2461T:p.R821W,MYLK:NM_053026:exon16:c.C2254T:p.R752W,MYLK:NM_053027:exon17:c.C2461T:p.R821W,MYLK:NM_053028:exon16:c.C2254T:p.R752W,;ANNO=splicing:MYLK
3	123451743	.	T	C	100	PASS	AC=56;STUDIES=6;MAC=56;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYLK:NM_053025:exon11:c.A1516G:p.R506G,MYLK:NM_053027:exon11:c.A1516G:p.R506G,;ANNO=splicing:MYLK
3	124281690	.	C	T	100	PASS	AC=76;STUDIES=17;MAC=76;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KALRN:NM_001024660:exon34:c.C4930T:p.L1644F,;ANNO=splicing:KALRN
3	124376650	.	C	T	100	PASS	AC=151;STUDIES=10;MAC=151;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=synonymous:KALRN:NM_001024660:exon41:c.C6033T:p.H2011H,KALRN:NM_007064:exon8:c.C942T:p.H314H,;ANNO=splicing:KALRN
3	124418879	.	T	C	100	PASS	AC=2786;STUDIES=22;MAC=2786;MAF=0.115;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KALRN:NM_001024660:exon56:c.T7995C:p.Y2665Y,KALRN:NM_007064:exon23:c.T2904C:p.Y968Y,;ANNO=splicing:KALRN
3	124431782	.	A	G	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KALRN:NM_001024660:exon58:c.A8076G:p.R2692R,KALRN:NM_007064:exon25:c.A2985G:p.R995R,;ANNO=splicing:KALRN
3	124459045	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UMPS:NM_000373:exon4:c.C1157T:p.A386V,;ANNO=splicing:UMPS
3	124527870	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ITGB5:NM_002213:exon9:c.C1262T:p.T421M,;ANNO=splicing:ITGB5
3	124646837	.	G	A	100	PASS	AC=3025;STUDIES=20;MAC=3025;MAF=0.138;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MUC13:NM_033049:exon2:c.C53T:p.A18V,;ANNO=splicing:MUC13
3	124728550	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HEG1:NM_020733:exon8:c.G3192C:p.L1064F,;ANNO=splicing:HEG1
3	124732833	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HEG1:NM_020733:exon6:c.C1590T:p.I530I,;ANNO=splicing:HEG1
3	124738107	.	C	T	100	PASS	AC=9139;STUDIES=19;MAC=8827;MAF=0.491;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:HEG1:NM_020733:exon5:c.G1587A:p.S529S,;ANNO=splicing:HEG1
3	124746049	.	A	G	100	PASS	AC=7130;STUDIES=16;MAC=6762;MAF=0.487;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=5;ANNO=nonsynonymous:HEG1:NM_020733:exon3:c.T913C:p.S305P,;ANNO=splicing:HEG1
3	124810283	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC12A8:NM_001195483:exon11:c.G1921A:p.G641R,SLC12A8:NM_024628:exon12:c.G1921A:p.G641R,;ANNO=splicing:SLC12A8
3	125188298	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SNX4:NM_003794:exon9:c.T854C:p.V285A,;ANNO=splicing:SNX4
3	125690885	.	G	A	100	PASS	AC=18;STUDIES=2;MAC=18;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:ROPN1B
3	125725957	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC41A3:NM_001008485:exon11:c.G1366A:p.G456S,SLC41A3:NM_017836:exon11:c.G1366A:p.G456S,SLC41A3:NM_001008487:exon10:c.G1288A:p.G430S,SLC41A3:NM_001164475:exon10:c.G1015A:p.G339S,SLC41A3:NM_001008486:exon10:c.G1258A:p.G420S,;ANNO=splicing:SLC41A3
3	125786791	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC41A3:NM_001008485:exon2:c.A272G:p.Q91R,SLC41A3:NM_017836:exon2:c.A272G:p.Q91R,SLC41A3:NM_001008486:exon2:c.A272G:p.Q91R,;ANNO=splicing:SLC41A3
3	125833399	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ALDH1L1(NM_012190:c.2082+1G>C)
3	125843294	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ALDH1L1:NM_012190:exon16:c.G1801A:p.V601M,;ANNO=splicing:ALDH1L1
3	125855608	.	C	T	100	PASS	AC=19;STUDIES=4;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ALDH1L1:NM_012190:exon11:c.G1343A:p.S448N,;ANNO=splicing:ALDH1L1
3	125855726	.	C	T	100	PASS	AC=96;STUDIES=6;MAC=96;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALDH1L1:NM_012190:exon11:c.G1225A:p.V409M,;ANNO=splicing:ALDH1L1
3	125856656	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ALDH1L1:NM_012190:exon10:c.C1224T:p.Y408Y,;ANNO=splicing:ALDH1L1
3	126133023	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC37(NM_182628:c.225+1G>A)
3	126137618	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC37(NM_182628:c.650+1G>A)
3	126178497	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZXDC:NM_025112:exon7:c.A2211G:p.A737A,;ANNO=splicing:ZXDC
3	126445921	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CHCHD6:NM_032343:exon2:c.C88T:p.L30L,;ANNO=splicing:CHCHD6
3	126633594	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CHCHD6(NM_032343:c.566+1G>A)
3	126737138	.	T	G	100	PASS	AC=19;STUDIES=2;MAC=19;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLXNA1:NM_032242:exon19:c.T3662G:p.V1221G,;ANNO=splicing:PLXNA1
3	127298714	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TPRA1:NM_001136053:exon3:c.G127A:p.V43I,TPRA1:NM_016372:exon2:c.G127A:p.V43I,TPRA1:NM_001142646:exon3:c.G127A:p.V43I,;ANNO=splicing:TPRA1
3	127682033	.	T	C	100	PASS	AC=44;STUDIES=5;MAC=44;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KBTBD12:NM_207335:exon4:c.T1494C:p.G498G,;ANNO=splicing:KBTBD12
3	128344378	.	T	C	100	PASS	AC=65;STUDIES=8;MAC=65;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RPN1:NM_002950:exon8:c.A1394G:p.K465R,;ANNO=splicing:RPN1
3	128603497	.	A	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ACAD9:NM_014049:exon2:c.A152T:p.K51I,;ANNO=splicing:ACAD9
3	128618303	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ACAD9:NM_014049:exon7:c.C807T:p.N269N,;ANNO=splicing:ACAD9
3	128627942	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ACAD9:NM_014049:exon14:c.G1485A:p.A495A,;ANNO=splicing:ACAD9
3	128758556	.	G	C	100	PASS	AC=262;STUDIES=16;MAC=262;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC48:NM_024768:exon8:c.G1662C:p.E554D,;ANNO=splicing:CCDC48
3	128864715	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ISY1:NM_001199469:exon6:c.T189C:p.A63A,ISY1:NM_020701:exon6:c.T189C:p.A63A,ISY1-RAB43:NM_001204890:exon6:c.T189C:p.A63A,;ANNO=splicing:ISY1,ISY1-RAB43
3	129130197	.	T	C	100	PASS	AC=728;STUDIES=15;MAC=728;MAF=0.040;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C3orf25:NM_207307:exon5:c.A839G:p.H280R,;ANNO=splicing:C3orf25
3	129152089	.	G	A	100	PASS	AC=2749;STUDIES=22;MAC=2749;MAF=0.113;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MBD4:NM_003925:exon6:c.C1413T:p.G471G,;ANNO=splicing:MBD4
3	129155287	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MBD4:NM_003925:exon3:c.A1200G:p.Q400Q,;ANNO=splicing:MBD4
3	129156151	.	G	A	100	PASS	AC=16;STUDIES=7;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MBD4:NM_003925:exon3:c.C336T:p.S112S,;ANNO=splicing:MBD4
3	129180146	.	T	C	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IFT122:NM_052989:exon5:c.T348C:p.F116F,IFT122:NM_052985:exon6:c.T501C:p.F167F,IFT122:NM_018262:exon5:c.T348C:p.F116F,;ANNO=splicing:IFT122
3	129185734	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:IFT122:NM_052989:exon8:c.C565T:p.R189X,IFT122:NM_052985:exon9:c.C718T:p.R240X,;ANNO=splicing:IFT122
3	129239020	.	T	C	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IFT122:NM_052990:exon27:c.T3308C:p.M1103T,IFT122:NM_052989:exon30:c.T3638C:p.M1213T,IFT122:NM_052985:exon31:c.T3791C:p.M1264T,IFT122:NM_018262:exon29:c.T3461C:p.M1154T,;ANNO=splicing:IFT122
3	129247936	.	C	T	100	PASS	AC=84;STUDIES=20;MAC=84;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RHO:NM_000539:exon1:c.C360T:p.G120G,;ANNO=splicing:RHO
3	129290353	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLXND1:NM_015103:exon17:c.C3335T:p.T1112M,;ANNO=splicing:PLXND1
3	129293180	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:PLXND1:NM_015103:exon12:c.C2684T:p.A895V,;ANNO=splicing:PLXND1
3	129302411	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLXND1:NM_015103:exon8:c.C2240T:p.T747M,;ANNO=splicing:PLXND1
3	129695542	.	C	T	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:TRH:NM_007117:exon3:c.C212T:p.A71V,;ANNO=splicing:TRH
3	130104206	.	A	G	100	PASS	AC=1972;STUDIES=7;MAC=1972;MAF=0.271;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL6A5:NM_153264:exon5:c.A1860G:p.K620K,;ANNO=splicing:COL6A5
3	130128232	.	G	A	100	PASS	AC=284;STUDIES=7;MAC=284;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL6A5:NM_153264:exon18:c.G4542A:p.P1514P,;ANNO=splicing:COL6A5
3	130139996	.	G	T	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL6A5(NM_153264:c.4950-1G>T)
3	130150310	.	A	C	100	PASS	AC=199;STUDIES=6;MAC=199;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:COL6A5:NM_153264:exon33:c.A5250C:p.E1750D,;ANNO=splicing:COL6A5
3	130159669	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:COL6A5:NM_153264:exon35:c.C6487A:p.R2163R,;ANNO=nonsynonymous:COL6A5:NM_153264:exon35:c.C6487T:p.R2163W,;ANNO=splicing:COL6A5;ANNO=splicing:COL6A5
3	130188325	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL6A5:NM_153264:exon38:c.C7477T:p.R2493C,;ANNO=splicing:COL6A5
3	130279271	.	C	T	100	PASS	AC=181;STUDIES=17;MAC=181;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL6A6:NM_001102608:exon1:c.C63T:p.S21S,;ANNO=splicing:COL6A6
3	130284459	.	G	C	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL6A6(NM_001102608:c.1282+1G>C)
3	130381152	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL6A6:NM_001102608:exon34:c.C6502T:p.R2168C,;ANNO=splicing:COL6A6
3	130381153	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL6A6(NM_001102608:c.6502+1G>A)
3	130394046	.	C	T	100	PASS	AC=21;STUDIES=6;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL6A6:NM_001102608:exon36:c.C6597T:p.S2199S,;ANNO=splicing:COL6A6
3	130437378	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:PIK3R4:NM_014602:exon8:c.C1982T:p.A661V,;ANNO=nonsynonymous:PIK3R4:NM_014602:exon8:c.C1982A:p.A661D,;ANNO=splicing:PIK3R4;ANNO=splicing:PIK3R4
3	130442259	.	A	G	100	PASS	AC=168;STUDIES=19;MAC=168;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PIK3R4:NM_014602:exon7:c.T1980C:p.I660I,;ANNO=splicing:PIK3R4
3	130678120	.	A	G	100	PASS	AC=23;STUDIES=4;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ATP2C1:NM_001199183:exon11:c.A786G:p.G262G,ATP2C1:NM_001199182:exon10:c.A819G:p.G273G,ATP2C1:NM_001001485:exon12:c.A834G:p.G278G,ATP2C1:NM_001199179:exon12:c.A834G:p.G278G,ATP2C1:NM_001001487:exon11:c.A834G:p.G278G,ATP2C1:NM_001001486:exon11:c.A834G:p.G278G,ATP2C1:NM_001199180:exon11:c.A936G:p.G312G,ATP2C1:NM_001199185:exon11:c.A834G:p.G278G,ATP2C1:NM_001199184:exon11:c.A786G:p.G262G,ATP2C1:NM_014382:exon11:c.A834G:p.G278G,ATP2C1:NM_001199181:exon11:c.A936G:p.G312G,;ANNO=splicing:ATP2C1
3	130686175	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATP2C1:NM_001199183:exon15:c.C1172T:p.A391V,ATP2C1:NM_001199182:exon14:c.C1205T:p.A402V,ATP2C1:NM_001001485:exon16:c.C1220T:p.A407V,ATP2C1:NM_001199179:exon16:c.C1220T:p.A407V,ATP2C1:NM_001001487:exon15:c.C1220T:p.A407V,ATP2C1:NM_001001486:exon15:c.C1220T:p.A407V,ATP2C1:NM_001199180:exon15:c.C1322T:p.A441V,ATP2C1:NM_001199185:exon15:c.C1220T:p.A407V,ATP2C1:NM_001199184:exon15:c.C1172T:p.A391V,ATP2C1:NM_014382:exon15:c.C1220T:p.A407V,ATP2C1:NM_001199181:exon15:c.C1322T:p.A441V,;ANNO=splicing:ATP2C1
3	130742847	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ASTE1(NM_014065:c.1302+2T>C)
3	130871553	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NEK11:NM_024800:exon9:c.G876A:p.Q292Q,NEK11:NM_145910:exon9:c.G876A:p.Q292Q,NEK11:NM_001146003:exon8:c.G876A:p.Q292Q,;ANNO=splicing:NEK11
3	131102189	.	C	T	100	PASS	AC=20;STUDIES=8;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NUDT16:NM_001171905:exon4:c.C383T:p.A128V,;ANNO=splicing:NUDT16
3	131217121	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MRPL3:NM_007208:exon4:c.G370A:p.V124I,;ANNO=splicing:MRPL3
3	132068845	.	C	T	100	PASS	AC=23;STUDIES=2;MAC=23;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACPP:NM_001099:exon8:c.C863T:p.A288V,ACPP:NM_001134194:exon8:c.C863T:p.A288V,;ANNO=splicing:ACPP
3	132071668	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACPP(NM_001099:c.968+1G>T,NM_001134194:c.968+1G>T)
3	132196983	.	G	A	100	PASS	AC=61;STUDIES=14;MAC=61;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAJC13:NM_015268:exon24:c.G2708A:p.R903K,;ANNO=splicing:DNAJC13
3	132213932	.	G	A	100	PASS	AC=85;STUDIES=11;MAC=85;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DNAJC13:NM_015268:exon35:c.G3942A:p.P1314P,;ANNO=splicing:DNAJC13
3	132222224	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DNAJC13:NM_015268:exon41:c.A4883C:p.E1628A,;ANNO=splicing:DNAJC13
3	132297725	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ACAD11:NM_032169:exon15:c.A1689G:p.R563R,;ANNO=splicing:ACAD11
3	132337477	.	C	A	100	PASS	AC=431;STUDIES=18;MAC=431;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACAD11(NM_032169:c.1414+1G>T)
3	132347185	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:ACAD11:NM_032169:exon8:c.C1069T:p.R357X,;ANNO=splicing:ACAD11
3	132350185	.	C	T	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ACAD11:NM_032169:exon6:c.G841A:p.G281R,;ANNO=splicing:ACAD11
3	132390724	.	C	T	100	PASS	AC=223;STUDIES=10;MAC=223;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UBA5:NM_198329:exon7:c.C515T:p.A172V,UBA5:NM_024818:exon7:c.C683T:p.A228V,;ANNO=splicing:UBA5
3	132416206	.	C	T	100	PASS	AC=183;STUDIES=7;MAC=183;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NPHP3:NM_153240:exon14:c.G1986A:p.R662R,;ANNO=splicing:NPHP3
3	133356720	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TOPBP1:NM_007027:exon14:c.G2520A:p.K840K,;ANNO=splicing:TOPBP1
3	133368787	.	T	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TOPBP1:NM_007027:exon9:c.A1090T:p.I364L,;ANNO=splicing:TOPBP1
3	133496082	.	T	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TF:NM_001063:exon16:c.T2062A:p.S688T,;ANNO=splicing:TF
3	133698324	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLCO2A1(NM_005630:c.234+1G>A)
3	134084660	.	C	G	100	PASS	AC=44;STUDIES=13;MAC=44;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AMOTL2:NM_016201:exon5:c.G1278C:p.Q426H,;ANNO=splicing:AMOTL2
3	134085126	.	T	G	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AMOTL2:NM_016201:exon4:c.A1185C:p.R395S,;ANNO=splicing:AMOTL2
3	134214206	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CEP63:NM_001042383:exon2:c.G44A:p.G15E,CEP63:NM_025180:exon3:c.G44A:p.G15E,CEP63:NM_001042384:exon2:c.G44A:p.G15E,CEP63:NM_001042400:exon2:c.G44A:p.G15E,;ANNO=splicing:CEP63
3	134256110	.	G	C	100	PASS	AC=598;STUDIES=21;MAC=598;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CEP63:NM_001042383:exon6:c.G555C:p.Q185H,CEP63:NM_025180:exon7:c.G555C:p.Q185H,CEP63:NM_001042384:exon6:c.G555C:p.Q185H,CEP63:NM_001042400:exon6:c.G555C:p.Q185H,;ANNO=splicing:CEP63
3	134267902	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEP63(NM_001042384:c.929-2A>G,NM_001042383:c.929-2A>G,NM_001042400:c.1067-2A>G,NM_025180:c.1067-2A>G)
3	134278270	.	C	T	100	PASS	AC=7916;STUDIES=22;MAC=7916;MAF=0.327;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CEP63:NM_025180:exon15:c.C1952T:p.S651L,;ANNO=splicing:CEP63
3	134967350	.	G	A	100	PASS	AC=25;STUDIES=8;MAC=25;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EPHB1:NM_004441:exon14:c.G2689A:p.V897M,;ANNO=splicing:EPHB1
3	136221470	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:STAG1:NM_005862:exon8:c.G828A:p.E276E,;ANNO=splicing:STAG1
3	137811385	.	T	C	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DZIP1L:NM_001170538:exon6:c.A710G:p.E237G,DZIP1L:NM_173543:exon5:c.A710G:p.E237G,;ANNO=splicing:DZIP1L
3	137982973	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ARMC8:NM_015396:exon15:c.A1176G:p.R392R,;ANNO=splicing:ARMC8
3	138183187	.	G	C	100	PASS	AC=57;STUDIES=12;MAC=57;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ESYT3:NM_031913:exon9:c.G916C:p.G306R,;ANNO=splicing:ESYT3
3	138187558	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ESYT3:NM_031913:exon13:c.C1370T:p.P457L,;ANNO=splicing:ESYT3
3	138188988	.	G	A	100	PASS	AC=17;STUDIES=9;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ESYT3:NM_031913:exon16:c.G1590A:p.K530K,;ANNO=splicing:ESYT3
3	138189719	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:ESYT3:NM_031913:exon17:c.G1591A:p.V531M,;ANNO=nonsynonymous:ESYT3:NM_031913:exon17:c.G1591C:p.V531L,;ANNO=splicing:ESYT3;ANNO=splicing:ESYT3
3	138192476	.	G	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ESYT3:NM_031913:exon19:c.G2336T:p.R779I,;ANNO=splicing:ESYT3
3	138193195	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ESYT3(NM_031913:c.2468+1G>A)
3	138219066	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CEP70:NM_024491:exon16:c.A1538G:p.D513G,;ANNO=splicing:CEP70
3	138244331	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEP70(NM_024491:c.944+1G>C)
3	138347997	.	C	T	100	PASS	AC=16;STUDIES=7;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAIM:NM_018147:exon4:c.C389T:p.A130V,FAIM:NM_001033032:exon4:c.C389T:p.A130V,FAIM:NM_001033030:exon5:c.C491T:p.A164V,FAIM:NM_001033031:exon5:c.C455T:p.A152V,;ANNO=splicing:FAIM
3	139088104	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COPB2:NM_004766:exon12:c.A1400T:p.H467L,;ANNO=splicing:COPB2
3	139180954	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RBP2:NM_004164:exon2:c.G252A:p.K84K,;ANNO=splicing:RBP2
3	139237264	.	A	G	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RBP1:NM_002899:exon3:c.T539C:p.L180P,;ANNO=splicing:RBP1
3	140397411	.	T	A	100	PASS	AC=90;STUDIES=4;MAC=90;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRIM42:NM_152616:exon1:c.T340A:p.S114T,;ANNO=splicing:TRIM42
3	140397413	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRIM42(NM_152616:c.341+1G>A)
3	141278737	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RASA2:NM_006506:exon9:c.A763G:p.I255V,;ANNO=splicing:RASA2
3	141326602	.	T	C	100	PASS	AC=2374;STUDIES=22;MAC=2374;MAF=0.099;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RASA2:NM_006506:exon20:c.T2016C:p.N672N,;ANNO=splicing:RASA2
3	142037536	.	C	T	100	PASS	AC=16;STUDIES=8;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:XRN1:NM_019001:exon39:c.G4516A:p.G1506S,XRN1:NM_001042604:exon39:c.G4516A:p.G1506S,;ANNO=splicing:XRN1
3	142103365	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:XRN1:NM_019001:exon21:c.G2502A:p.K834K,XRN1:NM_001042604:exon21:c.G2502A:p.K834K,;ANNO=splicing:XRN1
3	142137451	.	T	C	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:XRN1:NM_019001:exon12:c.A1241G:p.D414G,XRN1:NM_001042604:exon12:c.A1241G:p.D414G,;ANNO=splicing:XRN1
3	142141763	.	C	A	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:XRN1:NM_019001:exon7:c.G712T:p.V238L,XRN1:NM_001042604:exon7:c.G712T:p.V238L,;ANNO=splicing:XRN1
3	142275225	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ATR:NM_001184:exon9:c.T2078C:p.I693T,;ANNO=splicing:ATR
3	142389963	.	A	G	100	PASS	AC=10;STUDIES=8;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLS1:NM_002670:exon4:c.A363G:p.S121S,PLS1:NM_001172312:exon4:c.A363G:p.S121S,PLS1:NM_001145319:exon4:c.A363G:p.S121S,;ANNO=splicing:PLS1
3	143371201	.	C	T	100	PASS	AC=820;STUDIES=21;MAC=820;MAF=0.035;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC9A9:NM_173653:exon6:c.G651A:p.V217V,;ANNO=splicing:SLC9A9
3	143566991	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC9A9:NM_173653:exon1:c.T174C:p.Y58Y,;ANNO=splicing:SLC9A9
3	145803060	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLOD2:NM_000935:exon11:c.G1128A:p.M376I,PLOD2:NM_182943:exon11:c.G1128A:p.M376I,;ANNO=splicing:PLOD2
3	145804575	.	T	G	100	PASS	AC=17;STUDIES=4;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLOD2:NM_000935:exon10:c.A1126C:p.M376L,PLOD2:NM_182943:exon10:c.A1126C:p.M376L,;ANNO=splicing:PLOD2
3	145913069	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLSCR4:NM_020353:exon8:c.G787A:p.V263I,PLSCR4:NM_001128306:exon6:c.G517A:p.V173I,PLSCR4:NM_001177304:exon5:c.G472A:p.V158I,;ANNO=splicing:PLSCR4
3	145917599	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLSCR4(NM_020353:c.624+1G>A)
3	145939852	.	C	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:PLSCR4:NM_020353:exon2:c.G7T:p.G3C,PLSCR4:NM_001128306:exon2:c.G7T:p.G3C,;ANNO=splicing:PLSCR4
3	145939878	.	T	C	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:PLSCR4
3	146173245	.	A	G	100	PASS	AC=24;STUDIES=9;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLSCR2:NM_001199979:exon4:c.T309C:p.V103V,PLSCR2:NM_001199978:exon6:c.T321C:p.V107V,;ANNO=splicing:PLSCR2
3	146173246	.	A	C	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLSCR2:NM_001199979:exon4:c.T308G:p.V103G,PLSCR2:NM_001199978:exon6:c.T320G:p.V107G,;ANNO=splicing:PLSCR2
3	146176241	.	C	G	100	PASS	AC=20;STUDIES=4;MAC=20;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:PLSCR2(NM_001199978:c.276-1G>C,NM_001199979:c.264-1G>C)
3	147109032	.	G	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZIC4:NM_001168378:exon4:c.C840A:p.G280G,ZIC4:NM_032153:exon4:c.C690A:p.G230G,ZIC4:NM_001168379:exon4:c.C804A:p.G268G,;ANNO=splicing:ZIC4
3	147121751	.	C	T	100	PASS	AC=1369;STUDIES=6;MAC=1369;MAF=0.227;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZIC4:NM_001168378:exon1:c.G135A:p.K45K,;ANNO=splicing:ZIC4
3	148545789	.	C	T	100	PASS	AC=149;STUDIES=6;MAC=149;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CPB1:NM_001871:exon2:c.C72T:p.G24G,;ANNO=splicing:CPB1
3	148741840	.	G	A	100	PASS	AC=31;STUDIES=7;MAC=31;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:GYG1:NM_001184720:exon6:c.G609A:p.V203V,GYG1:NM_004130:exon6:c.G609A:p.V203V,;ANNO=splicing:GYG1
3	148917499	.	T	G	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CP:NM_000096:exon8:c.A1501C:p.S501R,;ANNO=splicing:CP
3	148924125	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CP:NM_000096:exon6:c.C1038T:p.A346A,;ANNO=splicing:CP
3	149042668	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TM4SF18:NM_001184723:exon3:c.C409T:p.R137C,TM4SF18:NM_138786:exon4:c.C409T:p.R137C,;ANNO=splicing:TM4SF18
3	149469997	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COMMD2:NM_016094:exon2:c.A145G:p.R49G,;ANNO=splicing:COMMD2
3	149638922	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RNF13:NM_183381:exon8:c.T608C:p.I203T,RNF13:NM_007282:exon9:c.T608C:p.I203T,;ANNO=splicing:RNF13
3	150264428	.	T	C	100	PASS	AC=1770;STUDIES=3;MAC=274;MAF=0.134;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:SERP1
3	150290316	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=synonymous:EIF2A:NM_032025:exon10:c.G1383A:p.L461L,;ANNO=splicing:EIF2A
3	150384801	.	C	A	100	PASS	AC=313;STUDIES=13;MAC=313;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM194A:NM_152394:exon13:c.G1501T:p.V501L,;ANNO=splicing:FAM194A
3	150384802	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;EXON_FORWARD;SNP_ON_LEFT;SNP_ON_RIGHT;DESIGN_FAILED;ANNO=stopgain:FAM194A:NM_152394:exon13:c.G1500A:p.W500X,;ANNO=splicing:FAM194A
3	150404142	.	C	T	100	PASS	AC=16;STUDIES=6;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM194A(NM_152394:c.553-1G>A)
3	151017855	.	T	G	100	PASS	AC=18;STUDIES=3;MAC=18;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPR87:NM_023915:exon2:c.A34C:p.N12H,;ANNO=splicing:GPR87
3	151129067	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MED12L:NM_053002:exon39:c.C5807A:p.T1936N,;ANNO=splicing:MED12L
3	151451961	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AADACL2:NM_207365:exon1:c.G138A:p.T46T,;ANNO=splicing:AADACL2
3	152175920	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MBNL1:NM_207296:exon6:c.C904T:p.P302S,;ANNO=splicing:MBNL1
3	153847507	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARHGEF26:NM_015595:exon4:c.C1268T:p.A423V,;ANNO=splicing:ARHGEF26
3	154139275	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GPR149:NM_001038705:exon3:c.C1176A:p.I392I,;ANNO=splicing:GPR149
3	154834451	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MME(NM_000902:c.439-2A>C,NM_007287:c.439-2A>C,NM_007288:c.439-2A>C,NM_007289:c.439-2A>C)
3	154886414	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MME:NM_000902:exon19:c.C1914T:p.H638H,MME:NM_007288:exon19:c.C1914T:p.H638H,MME:NM_007287:exon19:c.C1914T:p.H638H,MME:NM_007289:exon19:c.C1914T:p.H638H,;ANNO=splicing:MME
3	156234060	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KCNAB1:NM_172159:exon11:c.T813G:p.G271G,KCNAB1:NM_172160:exon11:c.T867G:p.G289G,KCNAB1:NM_003471:exon11:c.T834G:p.G278G,;ANNO=splicing:KCNAB1
3	157155702	.	A	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PTX3:NM_002852:exon2:c.A531T:p.A177A,;ANNO=splicing:PTX3
3	158320597	.	T	C	100	PASS	AC=13203;STUDIES=22;MAC=11053;MAF=0.456;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MLF1:NM_001195434:exon8:c.T540C:p.S180S,MLF1:NM_022443:exon6:c.T570C:p.S190S,MLF1:NM_001195433:exon6:c.T366C:p.S122S,MLF1:NM_001130157:exon7:c.T495C:p.S165S,MLF1:NM_001195432:exon8:c.T663C:p.S221S,MLF1:NM_001130156:exon6:c.T495C:p.S165S,;ANNO=splicing:MLF1
3	158523262	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=stopgain:MFSD1:NM_022736:exon3:c.C475T:p.R159X,;ANNO=splicing:MFSD1
3	158970516	.	T	G	100	PASS	AC=37;STUDIES=7;MAC=37;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IQCJ-SCHIP1:NM_001197113:exon3:c.T75G:p.N25K,IQCJ:NM_001042705:exon3:c.T75G:p.N25K,IQCJ:NM_001042706:exon3:c.T75G:p.N25K,;ANNO=splicing:IQCJ,IQCJ-SCHIP1
3	159614512	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SCHIP1:NM_001197108:exon7:c.A717G:p.R239R,IQCJ-SCHIP1:NM_001197113:exon11:c.A1641G:p.R547R,IQCJ-SCHIP1:NM_001197114:exon10:c.A1560G:p.R520R,SCHIP1:NM_014575:exon8:c.A1413G:p.R471R,SCHIP1:NM_001197107:exon8:c.A1374G:p.R458R,SCHIP1:NM_001197109:exon7:c.A684G:p.R228R,;ANNO=splicing:IQCJ-SCHIP1,SCHIP1
3	159708100	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IL12A(NM_000882:c.264+1G>T)
3	160025451	.	G	A	100	PASS	AC=182;STUDIES=20;MAC=182;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IFT80:NM_001190242:exon9:c.C665T:p.S222F,IFT80:NM_020800:exon10:c.C1076T:p.S359F,IFT80:NM_001190241:exon11:c.C665T:p.S222F,;ANNO=splicing:IFT80
3	160143863	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SMC4:NM_001002800:exon17:c.G2480A:p.R827H,SMC4:NM_005496:exon16:c.G2480A:p.R827H,;ANNO=splicing:SMC4
3	160823159	.	G	A	100	PASS	AC=344;STUDIES=2;MAC=344;MAF=0.260;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:B3GALNT1
3	164748500	.	C	T	100	PASS	AC=12;STUDIES=8;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SI:NM_001041:exon25:c.G2892A:p.T964T,;ANNO=splicing:SI
3	164748655	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SI:NM_001041:exon25:c.G2737T:p.V913F,;ANNO=splicing:SI
3	164783220	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:SI:NM_001041:exon7:c.G636T:p.L212F,;ANNO=synonymous:SI:NM_001041:exon7:c.G636A:p.L212L,;ANNO=splicing:SI;ANNO=splicing:SI
3	167023738	.	G	C	100	PASS	AC=7204;STUDIES=19;MAC=7204;MAF=0.416;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=3;ANNO=nonsynonymous:ZBBX:NM_024687:exon17:c.C1418G:p.A473G,ZBBX:NM_001199201:exon17:c.C1418G:p.A473G,ZBBX:NM_001199202:exon17:c.C1331G:p.A444G,;ANNO=splicing:ZBBX
3	167083673	.	C	G	100	PASS	AC=39;STUDIES=11;MAC=39;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZBBX(NM_024687:c.273+1G>C,NM_001199202:c.186+1G>C,NM_001199201:c.273+1G>C)
3	167254659	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:WDR49:NM_178824:exon7:c.G897A:p.T299T,;ANNO=splicing:WDR49
3	168812865	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MECOM:NM_001105077:exon13:c.C2649T:p.S883S,MECOM:NM_001163999:exon11:c.C2430T:p.S810S,MECOM:NM_005241:exon12:c.C2454T:p.S818S,MECOM:NM_004991:exon13:c.C3018T:p.S1006S,MECOM:NM_001164000:exon11:c.C2427T:p.S809S,MECOM:NM_001205194:exon12:c.C2454T:p.S818S,MECOM:NM_001105078:exon12:c.C2454T:p.S818S,;ANNO=splicing:MECOM
3	169546720	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRRIQ4:NM_001080460:exon2:c.G1194C:p.Q398H,;ANNO=splicing:LRRIQ4
3	169637373	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SAMD7(NM_182610:c.86+1G>T)
3	169998015	.	G	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:PRKCI:NM_002740:exon9:c.G706T:p.A236S,;ANNO=splicing:PRKCI
3	169999670	.	A	G	100	PASS	AC=394;STUDIES=19;MAC=394;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:PRKCI:NM_002740:exon11:c.A981G:p.R327R,;ANNO=splicing:PRKCI
3	170587949	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RPL22L1:NM_001099645:exon1:c.C8T:p.P3L,;ANNO=splicing:RPL22L1
3	170811629	.	T	G	100	PASS	AC=100;STUDIES=18;MAC=100;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TNIK:NM_001161565:exon21:c.A2468C:p.E823A,TNIK:NM_001161566:exon20:c.A2444C:p.E815A,TNIK:NM_001161562:exon21:c.A2609C:p.E870A,TNIK:NM_001161564:exon21:c.A2531C:p.E844A,TNIK:NM_015028:exon23:c.A2720C:p.E907A,TNIK:NM_001161563:exon22:c.A2555C:p.E852A,TNIK:NM_001161561:exon22:c.A2633C:p.E878A,TNIK:NM_001161560:exon22:c.A2696C:p.E899A,;ANNO=splicing:TNIK
3	170825950	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TNIK:NM_001161565:exon18:c.C2034G:p.A678A,TNIK:NM_001161566:exon18:c.C2034G:p.A678A,TNIK:NM_001161562:exon19:c.C2199G:p.A733A,TNIK:NM_001161564:exon19:c.C2121G:p.A707A,TNIK:NM_015028:exon20:c.C2286G:p.A762A,TNIK:NM_001161563:exon19:c.C2121G:p.A707A,TNIK:NM_001161561:exon19:c.C2199G:p.A733A,TNIK:NM_001161560:exon20:c.C2286G:p.A762A,;ANNO=splicing:TNIK
3	171405373	.	G	A	100	PASS	AC=80;STUDIES=8;MAC=80;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLD1:NM_001130081:exon15:c.C1541T:p.P514L,PLD1:NM_002662:exon15:c.C1541T:p.P514L,;ANNO=splicing:PLD1
3	171417536	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:PLD1:NM_001130081:exon12:c.C1226T:p.A409V,PLD1:NM_002662:exon12:c.C1226T:p.A409V,;ANNO=nonsynonymous:PLD1:NM_001130081:exon12:c.C1226G:p.A409G,PLD1:NM_002662:exon12:c.C1226G:p.A409G,;ANNO=splicing:PLD1;ANNO=splicing:PLD1
3	171561333	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM212(NM_001164436:c.159+1G>A)
3	171571640	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TMEM212:NM_001164436:exon3:c.C543T:p.N181N,;ANNO=splicing:TMEM212
3	172070873	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FNDC3B:NM_001135095:exon22:c.G2795A:p.R932Q,FNDC3B:NM_022763:exon22:c.G2795A:p.R932Q,;ANNO=splicing:FNDC3B
3	172504364	.	C	T	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ECT2:NM_018098:exon16:c.C1814T:p.T605M,;ANNO=splicing:ECT2
3	172642106	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:SPATA16:NM_031955:exon8:c.G1230T:p.E410D,;ANNO=synonymous:SPATA16:NM_031955:exon8:c.G1230A:p.E410E,;ANNO=splicing:SPATA16;ANNO=splicing:SPATA16
3	172737276	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPATA16:NM_031955:exon4:c.G848A:p.R283Q,;ANNO=splicing:SPATA16
3	179096602	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:MFN1:NM_033540:exon14:c.G1662C:p.Q554H,;ANNO=splicing:MFN1
3	179320441	.	A	G	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MRPL47:NM_020409:exon2:c.T243C:p.S81S,;ANNO=splicing:MRPL47
3	179448047	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:USP13:NM_003940:exon9:c.A1159G:p.M387V,;ANNO=splicing:USP13
3	179474867	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:USP13(NM_003940:c.1948+1G>A)
3	179597912	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PEX5L(NM_016559:c.310-1G>T)
3	182775100	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MCCC1:NM_020166:exon8:c.C872T:p.A291V,;ANNO=splicing:MCCC1
3	182810333	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MCCC1:NM_020166:exon3:c.G137A:p.G46E,;ANNO=splicing:MCCC1
3	182994744	.	C	T	100	PASS	AC=303;STUDIES=11;MAC=303;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MCF2L2:NM_015078:exon15:c.G1778A:p.S593N,;ANNO=splicing:MCF2L2
3	183212068	.	A	G	100	PASS	AC=44;STUDIES=8;MAC=44;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KLHL6:NM_130446:exon5:c.T1149C:p.G383G,;ANNO=splicing:KLHL6
3	183508767	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:YEATS2:NM_018023:exon21:c.C3096T:p.S1032S,;ANNO=splicing:YEATS2
3	183699516	.	T	C	100	PASS	AC=6523;STUDIES=20;MAC=6523;MAF=0.340;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:ABCC5:NM_005688:exon8:c.A1146G:p.Q382Q,;ANNO=splicing:ABCC5
3	183732053	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ABCC5:NM_001023587:exon2:c.C128T:p.P43L,ABCC5:NM_005688:exon2:c.C128T:p.P43L,;ANNO=splicing:ABCC5
3	183752964	.	A	C	100	PASS	AC=266;STUDIES=7;MAC=266;MAF=0.036;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HTR3D:NM_001163646:exon2:c.A238C:p.R80R,;ANNO=splicing:HTR3D(NM_001145143:c.66-2A>C)
3	183754294	.	G	C	100	PASS	AC=11156;STUDIES=21;MAC=11156;MAF=0.472;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:HTR3D:NM_182537:exon3:c.G107C:p.G36A,HTR3D:NM_001145143:exon4:c.G329C:p.G110A,;ANNO=splicing:HTR3D(NM_001163646:c.511+1G>C)
3	183755809	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HTR3D:NM_001163646:exon6:c.G661T:p.V221L,HTR3D:NM_182537:exon4:c.G142T:p.V48L,HTR3D:NM_001145143:exon6:c.G517T:p.V173L,;ANNO=splicing:HTR3D
3	183756062	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HTR3D(NM_182537:c.394+1G>T,NM_001145143:c.769+1G>T)
3	183756412	.	G	A	100	PASS	AC=232;STUDIES=15;MAC=232;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:HTR3D:NM_001163646:exon7:c.G1135A:p.G379S,HTR3D:NM_182537:exon5:c.G610A:p.G204S,HTR3D:NM_001145143:exon7:c.G985A:p.G329S,;ANNO=splicing:HTR3D
3	183774074	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HTR3C:NM_130770:exon4:c.C389T:p.S130F,;ANNO=splicing:HTR3C
3	183905650	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ABCF3:NM_018358:exon6:c.G448A:p.V150I,;ANNO=splicing:ABCF3
3	183906775	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCF3:NM_018358:exon9:c.C976T:p.R326W,;ANNO=splicing:ABCF3
3	183907346	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:ABCF3:NM_018358:exon13:c.C1115G:p.T372R,;ANNO=nonsynonymous:ABCF3:NM_018358:exon13:c.C1115T:p.T372M,;ANNO=splicing:ABCF3;ANNO=splicing:ABCF3
3	183967677	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ECE2:NM_014693:exon1:c.A195T:p.L65L,ECE2:NM_032331:exon1:c.A195T:p.L65L,;ANNO=splicing:ECE2
3	183995839	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ECE2(NM_014693:c.957+2T>C,NM_001100120:c.741+2T>C,NM_001100121:c.603+2T>C,NM_001037324:c.516+2T>C)
3	184019325	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PSMD2:NM_002808:exon4:c.C358T:p.R120C,;ANNO=splicing:PSMD2
3	184019326	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:PSMD2:NM_002808:exon4:c.G359A:p.R120H,;ANNO=splicing:PSMD2
3	184021253	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PSMD2:NM_002808:exon9:c.C1215T:p.H405H,;ANNO=splicing:PSMD2
3	184101429	.	C	T	100	PASS	AC=17;STUDIES=7;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CHRD:NM_003741:exon12:c.C1439T:p.T480M,;ANNO=splicing:CHRD
3	184102806	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CHRD:NM_003741:exon14:c.C1598T:p.T533M,;ANNO=splicing:CHRD
3	184104726	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CHRD:NM_003741:exon17:c.G2290A:p.E764K,;ANNO=splicing:CHRD
3	184104896	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CHRD(NM_003741:c.2347+1G>T)
3	184106783	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CHRD:NM_003741:exon22:c.C2812T:p.P938S,;ANNO=splicing:CHRD
3	184294631	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EPHB3:NM_004443:exon5:c.C1014T:p.T338T,;ANNO=splicing:EPHB3
3	184298952	.	G	C	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EPHB3:NM_004443:exon14:c.G2731C:p.G911R,;ANNO=splicing:EPHB3
3	184571960	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:VPS8:NM_001009921:exon12:c.G1034A:p.R345Q,VPS8:NM_015303:exon12:c.G1028A:p.R343Q,;ANNO=splicing:VPS8
3	184742179	.	T	C	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VPS8(NM_015303:c.4050+2T>C,NM_001009921:c.4056+2T>C)
3	185198317	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MAP3K13:NM_001242317:exon12:c.G2178A:p.E726E,MAP3K13:NM_001242314:exon14:c.G2799A:p.E933E,MAP3K13:NM_004721:exon13:c.G2799A:p.E933E,;ANNO=splicing:MAP3K13
3	185212411	.	C	G	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM41A:NM_080652:exon4:c.G574C:p.G192R,;ANNO=splicing:TMEM41A
3	185236930	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LIPH:NM_139248:exon6:c.G886C:p.G296R,;ANNO=splicing:LIPH
3	185252919	.	G	A	100	PASS	AC=90;STUDIES=10;MAC=90;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LIPH:NM_139248:exon2:c.C51T:p.D17D,;ANNO=splicing:LIPH
3	185341870	.	C	T	100	PASS	AC=14;STUDIES=9;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SENP2:NM_021627:exon15:c.C1611T:p.H537H,;ANNO=splicing:SENP2
3	185367191	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:IGF2BP2:NM_006548:exon14:c.C1593T:p.T531T,IGF2BP2:NM_001007225:exon13:c.C1464T:p.T488T,;ANNO=splicing:IGF2BP2
3	185879392	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DGKG:NM_001080744:exon23:c.G2202A:p.T734T,DGKG:NM_001346:exon24:c.G2277A:p.T759T,DGKG:NM_001080745:exon23:c.G2160A:p.T720T,;ANNO=splicing:DGKG
3	185929584	.	C	T	100	PASS	AC=72;STUDIES=8;MAC=72;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DGKG:NM_001080744:exon20:c.G1842A:p.E614E,DGKG:NM_001346:exon21:c.G1917A:p.E639E,DGKG:NM_001080745:exon20:c.G1800A:p.E600E,;ANNO=splicing:DGKG
3	185970970	.	A	G	100	PASS	AC=68;STUDIES=14;MAC=68;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DGKG:NM_001080744:exon17:c.T1437C:p.D479D,DGKG:NM_001346:exon18:c.T1512C:p.D504D,DGKG:NM_001080745:exon17:c.T1395C:p.D465D,;ANNO=splicing:DGKG
3	185998460	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DGKG:NM_001080744:exon8:c.C668T:p.P223L,DGKG:NM_001346:exon8:c.C668T:p.P223L,DGKG:NM_001080745:exon8:c.C668T:p.P223L,;ANNO=splicing:DGKG
3	186002449	.	C	T	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DGKG:NM_001080744:exon7:c.G594A:p.A198A,DGKG:NM_001346:exon7:c.G594A:p.A198A,DGKG:NM_001080745:exon7:c.G594A:p.A198A,;ANNO=splicing:DGKG
3	186002497	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DGKG:NM_001080744:exon7:c.C546G:p.F182L,DGKG:NM_001346:exon7:c.C546G:p.F182L,DGKG:NM_001080745:exon7:c.C546G:p.F182L,;ANNO=splicing:DGKG
3	186016017	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DGKG:NM_001080744:exon4:c.C146T:p.P49L,DGKG:NM_001346:exon4:c.C146T:p.P49L,DGKG:NM_001080745:exon4:c.C146T:p.P49L,;ANNO=splicing:DGKG
3	186024765	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DGKG:NM_001080744:exon3:c.T69C:p.Y23Y,DGKG:NM_001346:exon3:c.T69C:p.Y23Y,DGKG:NM_001080745:exon3:c.T69C:p.Y23Y,;ANNO=splicing:DGKG
3	186272688	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:TBCCD1:NM_001134415:exon5:c.C1045T:p.R349X,TBCCD1:NM_018138:exon5:c.C1045T:p.R349X,;ANNO=splicing:TBCCD1
3	186334974	.	A	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AHSG(NM_001622:c.409-2A>T)
3	186360349	.	T	G	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FETUB(NM_014375:c.424+2T>G)
3	186383798	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:HRG
3	186383799	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HRG
3	186389413	.	C	A	100	PASS	AC=66;STUDIES=7;MAC=66;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HRG:NM_000412:exon4:c.C393A:p.V131V,;ANNO=splicing:HRG
3	186390655	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HRG:NM_000412:exon5:c.A638G:p.N213S,;ANNO=splicing:HRG
3	186435525	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KNG1:NM_000893:exon1:c.C194T:p.T65M,KNG1:NM_001102416:exon1:c.C194T:p.T65M,KNG1:NM_001166451:exon1:c.C194T:p.T65M,;ANNO=splicing:KNG1
3	186435526	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KNG1:NM_000893:exon1:c.G195A:p.T65T,KNG1:NM_001102416:exon1:c.G195A:p.T65T,KNG1:NM_001166451:exon1:c.G195A:p.T65T,;ANNO=splicing:KNG1
3	186440225	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KNG1(NM_001102416:c.306-1G>A,NM_000893:c.306-1G>A,NM_001166451:c.306-1G>A)
3	186501361	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EIF4A2
3	186507931	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RFC4:NM_002916:exon10:c.C996T:p.A332A,RFC4:NM_181573:exon10:c.C996T:p.A332A,;ANNO=splicing:RFC4
3	186510593	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RFC4:NM_002916:exon6:c.G554A:p.R185Q,RFC4:NM_181573:exon6:c.G554A:p.R185Q,;ANNO=splicing:RFC4
3	186978659	.	A	G	100	PASS	AC=99;STUDIES=9;MAC=99;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MASP1:NM_001031849:exon4:c.T417C:p.D139D,MASP1:NM_139125:exon4:c.T417C:p.D139D,MASP1:NM_001879:exon4:c.T417C:p.D139D,;ANNO=splicing:MASP1
3	187003843	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MASP1:NM_001031849:exon2:c.T7C:p.W3R,MASP1:NM_139125:exon2:c.T7C:p.W3R,MASP1:NM_001879:exon2:c.T7C:p.W3R,;ANNO=splicing:MASP1
3	189028174	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TPRG1(NM_198485:c.479-1G>A)
3	189587113	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TP63:NM_001114980:exon7:c.C848T:p.P283L,TP63:NM_001114979:exon9:c.C1130T:p.P377L,TP63:NM_001114978:exon9:c.C1130T:p.P377L,TP63:NM_001114982:exon7:c.C848T:p.P283L,TP63:NM_001114981:exon7:c.C848T:p.P283L,TP63:NM_003722:exon9:c.C1130T:p.P377L,;ANNO=splicing:TP63
3	190165579	.	A	C	100	PASS	AC=75;STUDIES=8;MAC=75;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM207:NM_207316:exon2:c.T113G:p.M38R,;ANNO=splicing:TMEM207
3	190321918	.	A	G	100	PASS	AC=36;STUDIES=6;MAC=36;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:IL1RAP:NM_001167929:exon3:c.A66G:p.E22E,IL1RAP:NM_001167930:exon3:c.A66G:p.E22E,IL1RAP:NM_001167931:exon4:c.A66G:p.E22E,IL1RAP:NM_002182:exon4:c.A66G:p.E22E,IL1RAP:NM_001167928:exon5:c.A66G:p.E22E,IL1RAP:NM_134470:exon4:c.A66G:p.E22E,;ANNO=splicing:IL1RAP
3	190936750	.	G	A	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OSTN:NM_198184:exon2:c.G317A:p.R106K,;ANNO=splicing:OSTN
3	190999876	.	C	T	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:UTS2D:NM_198152:exon5:c.G103A:p.G35R,;ANNO=splicing:UTS2D
3	191861915	.	C	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FGF12:NM_004113:exon6:c.G429A:p.V143V,FGF12:NM_021032:exon5:c.G615A:p.V205V,;ANNO=splicing:FGF12
3	192053150	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FGF12:NM_004113:exon4:c.A228G:p.S76S,FGF12:NM_021032:exon3:c.A414G:p.S138S,;ANNO=splicing:FGF12
3	192973579	.	G	A	100	PASS	AC=49;STUDIES=10;MAC=49;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HRASLS(NM_020386:c.139+1G>A)
3	193036896	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ATP13A5:NM_198505:exon17:c.G1917A:p.V639V,;ANNO=splicing:ATP13A5
3	193175169	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATP13A4:NM_032279:exon15:c.A1760G:p.Q587R,;ANNO=splicing:ATP13A4
3	193220428	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATP13A4:NM_032279:exon3:c.G235A:p.D79N,;ANNO=splicing:ATP13A4
3	193232488	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATP13A4:NM_032279:exon2:c.C233T:p.T78M,;ANNO=splicing:ATP13A4
3	194134567	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATP13A3:NM_024524:exon31:c.T3404C:p.I1135T,;ANNO=splicing:ATP13A3
3	194188614	.	G	C	100	PASS	AC=63;STUDIES=2;MAC=63;MAF=0.032;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ATP13A3
3	194313800	.	C	T	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM44(NM_138399:c.1176-1G>A)
3	194331646	.	T	C	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM44:NM_138399:exon8:c.A1016G:p.Q339R,TMEM44:NM_001166306:exon8:c.A1016G:p.Q339R,TMEM44:NM_001166305:exon9:c.A1157G:p.Q386R,TMEM44:NM_001011655:exon8:c.A1016G:p.Q339R,;ANNO=splicing:TMEM44
3	194387300	.	C	T	100	PASS	AC=10488;STUDIES=20;MAC=10488;MAF=0.481;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:LSG1:NM_018385:exon3:c.G228A:p.E76E,;ANNO=splicing:LSG1
3	194947586	.	C	G	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C3orf21(NM_152531:c.504-1G>C)
3	195452668	.	C	G	100	PASS	AC=524;STUDIES=4;MAC=524;MAF=0.082;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;HWE_FAILURES=3;ANNO=splicing:MUC20(NM_152673:c.681-1C>G,NM_001098516:c.576-1C>G)
3	195477983	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MUC4:NM_138297:exon21:c.T2787T:p.F929F,MUC4:NM_004532:exon22:c.T2940T:p.F980F,MUC4:NM_018406:exon23:c.T15648T:p.F5216F,;ANNO=splicing:MUC4
3	195481085	.	C	T	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MUC4:NM_138297:exon17:c.A2466A:p.G822G,MUC4:NM_004532:exon18:c.A2619A:p.G873G,MUC4:NM_018406:exon19:c.A15327A:p.G5109G,;ANNO=splicing:MUC4
3	195591057	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:TNK2:NM_005781:exon15:c.C3112T:p.R1038C,TNK2:NM_001010938:exon15:c.C3256T:p.R1086C,;ANNO=splicing:TNK2
3	195789515	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TFRC:NM_003234:exon13:c.G1406A:p.G469E,TFRC:NM_001128148:exon13:c.G1406A:p.G469E,;ANNO=splicing:TFRC
3	195938041	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZDHHC19:NM_001039617:exon1:c.C146T:p.P49L,;ANNO=splicing:ZDHHC19
3	195953837	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:OSTalpha:NM_152672:exon3:c.C135T:p.A45A,;ANNO=splicing:OSTalpha
3	195955680	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:OSTalpha:NM_152672:exon6:c.G522A:p.R174R,;ANNO=splicing:OSTalpha
3	195968819	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PCYT1A:NM_005017:exon8:c.C708T:p.N236N,;ANNO=splicing:PCYT1A
3	196043103	.	C	T	100	PASS	AC=15;STUDIES=3;MAC=15;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TCTEX1D2(NM_152773:c.113-1G>A)
3	196053903	.	C	A	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TM4SF19:NM_001204897:exon3:c.G202T:p.V68L,TM4SF19:NM_138461:exon3:c.G202T:p.V68L,;ANNO=splicing:TM4SF19
3	196735681	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MFI2:NM_005929:exon12:c.A1681G:p.R561G,;ANNO=splicing:MFI2
3	196736683	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MFI2:NM_005929:exon11:c.C1331T:p.P444L,;ANNO=splicing:MFI2
3	196737665	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MFI2:NM_005929:exon10:c.G1234A:p.A412T,;ANNO=splicing:MFI2
3	196743239	.	C	T	100	PASS	AC=97;STUDIES=18;MAC=97;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MFI2:NM_005929:exon8:c.G902A:p.R301H,;ANNO=splicing:MFI2
3	196749829	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MFI2:NM_033316:exon5:c.C643T:p.R215W,MFI2:NM_005929:exon5:c.C643T:p.R215W,;ANNO=splicing:MFI2
3	196754781	.	A	G	100	PASS	AC=141;STUDIES=16;MAC=141;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MFI2:NM_033316:exon2:c.T50C:p.V17A,MFI2:NM_005929:exon2:c.T50C:p.V17A,;ANNO=splicing:MFI2
3	196796090	.	G	A	100	PASS	AC=28;STUDIES=12;MAC=28;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DLG1:NM_001204386:exon19:c.C2044T:p.R682C,DLG1:NM_001204388:exon15:c.C1732T:p.R578C,DLG1:NM_004087:exon20:c.C2146T:p.R716C,DLG1:NM_001098424:exon20:c.C2080T:p.R694C,;ANNO=splicing:DLG1
3	196876614	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DLG1:NM_001204386:exon6:c.C537T:p.Y179Y,DLG1:NM_001204388:exon2:c.C288T:p.Y96Y,DLG1:NM_004087:exon7:c.C636T:p.Y212Y,DLG1:NM_001204387:exon2:c.C288T:p.Y96Y,DLG1:NM_001098424:exon7:c.C636T:p.Y212Y,;ANNO=splicing:DLG1
3	197239234	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:BDH1:NM_203315:exon7:c.C564G:p.G188G,BDH1:NM_203314:exon8:c.C564G:p.G188G,BDH1:NM_004051:exon7:c.C564G:p.G188G,;ANNO=splicing:BDH1
3	197241286	.	G	C	100	PASS	AC=1654;STUDIES=22;MAC=1654;MAF=0.069;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BDH1:NM_203315:exon6:c.C411G:p.G137G,BDH1:NM_203314:exon7:c.C411G:p.G137G,BDH1:NM_004051:exon6:c.C411G:p.G137G,;ANNO=splicing:BDH1
3	197260358	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BDH1(NM_004051:c.156+2T>C,NM_203315:c.156+2T>C,NM_203314:c.156+2T>C)
3	197408001	.	C	T	100	PASS	AC=13;STUDIES=7;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA0226:NM_014687:exon16:c.G2429A:p.R810Q,KIAA0226:NM_001145642:exon17:c.G2294A:p.R765Q,;ANNO=splicing:KIAA0226
3	197409341	.	G	A	100	PASS	AC=345;STUDIES=21;MAC=345;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA0226:NM_014687:exon14:c.C2126T:p.T709M,KIAA0226:NM_001145642:exon15:c.C1991T:p.T664M,;ANNO=splicing:KIAA0226
3	197701913	.	G	T	100	PASS	AC=3713;STUDIES=21;MAC=3713;MAF=0.164;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:LMLN:NM_033029:exon3:c.G318T:p.E106D,LMLN:NM_001136049:exon3:c.G318T:p.E106D,;ANNO=splicing:LMLN
4	647942	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDE6B:NM_001145292:exon3:c.G89A:p.R30Q,PDE6B:NM_000283:exon5:c.G926A:p.R309Q,PDE6B:NM_001145291:exon5:c.G926A:p.R309Q,;ANNO=splicing:PDE6B
4	663836	.	A	G	100	PASS	AC=124;STUDIES=7;MAC=124;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PDE6B:NM_001145292:exon20:c.A1668G:p.V556V,PDE6B:NM_000283:exon22:c.A2505G:p.V835V,;ANNO=splicing:PDE6B(NM_001145291:c.2503-2A>G)
4	673702	.	G	A	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYL5(NM_002477:c.187-1G>A)
4	673807	.	G	A	100	PASS	AC=15;STUDIES=9;MAC=15;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYL5:NM_002477:exon4:c.G292A:p.G98S,;ANNO=splicing:MYL5
4	674299	.	T	G	100	PASS	AC=48;STUDIES=2;MAC=48;MAF=0.109;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYL5:NM_002477:exon5:c.T294G:p.G98G,;ANNO=splicing:MYL5
4	675682	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYL5:NM_002477:exon7:c.G421A:p.V141M,;ANNO=splicing:MYL5
4	737371	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PCGF3:NM_006315:exon7:c.T372C:p.N124N,;ANNO=splicing:PCGF3
4	887276	.	G	A	100	PASS	AC=19;STUDIES=3;MAC=19;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GAK:NM_005255:exon9:c.C879T:p.R293R,;ANNO=splicing:GAK
4	944210	.	A	C	100	PASS	AC=1810;STUDIES=21;MAC=1810;MAF=0.077;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM175:NM_032326:exon4:c.A194C:p.Q65P,;ANNO=splicing:TMEM175
4	956707	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DGKQ:NM_001347:exon17:c.C1888T:p.L630F,;ANNO=splicing:DGKQ
4	960590	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DGKQ:NM_001347:exon11:c.G1312A:p.A438T,;ANNO=splicing:DGKQ
4	981736	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IDUA:NM_000203:exon2:c.A298G:p.R100G,;ANNO=splicing:IDUA
4	1075407	.	A	C	100	PASS	AC=20;STUDIES=4;MAC=20;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RNF212:NM_001131034:exon6:c.T363G:p.S121R,RNF212:NM_194439:exon6:c.T363G:p.S121R,;ANNO=splicing:RNF212
4	1165641	.	C	T	100	PASS	AC=30;STUDIES=5;MAC=30;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SPON2:NM_001199021:exon4:c.G219A:p.L73L,SPON2:NM_001128325:exon3:c.G219A:p.L73L,SPON2:NM_012445:exon2:c.G219A:p.L73L,;ANNO=splicing:SPON2
4	1659135	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM53A:NM_001174070:exon3:c.G136C:p.D46H,FAM53A:NM_001013622:exon3:c.G136C:p.D46H,;ANNO=splicing:FAM53A
4	1670395	.	G	A	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM53A:NM_001174070:exon2:c.C74T:p.P25L,FAM53A:NM_001013622:exon2:c.C74T:p.P25L,;ANNO=splicing:FAM53A
4	1807478	.	G	T	100	PASS	AC=542;STUDIES=19;MAC=542;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FGFR3:NM_001163213:exon13:c.G1653T:p.G551G,FGFR3:NM_022965:exon11:c.G1311T:p.G437G,FGFR3:NM_000142:exon13:c.G1647T:p.G549G,;ANNO=splicing:FGFR3
4	1978405	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:WHSC1:NM_133331:exon22:c.C3825T:p.F1275F,WHSC1:NM_133335:exon21:c.C3825T:p.F1275F,WHSC1:NM_133330:exon23:c.C3825T:p.F1275F,WHSC1:NM_001042424:exon21:c.C3825T:p.F1275F,;ANNO=splicing:WHSC1
4	2083359	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:POLN(NM_181808:c.2308+1G>A)
4	2132961	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:POLN:NM_181808:exon15:c.A1788T:p.K596N,;ANNO=splicing:POLN
4	2158516	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:POLN:NM_181808:exon14:c.C1730T:p.P577L,;ANNO=splicing:POLN
4	2160940	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:POLN(NM_181808:c.1554-2A>G)
4	2172826	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:POLN:NM_181808:exon10:c.A1457T:p.E486V,;ANNO=splicing:POLN
4	2259738	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MXD4:NM_006454:exon3:c.G165A:p.R55R,;ANNO=splicing:MXD4
4	2824764	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SH3BP2:NM_001145856:exon3:c.G410A:p.R137Q,SH3BP2:NM_001122681:exon3:c.G239A:p.R80Q,SH3BP2:NM_003023:exon3:c.G239A:p.R80Q,SH3BP2:NM_001145855:exon3:c.G323A:p.R108Q,;ANNO=splicing:SH3BP2
4	2829400	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SH3BP2:NM_001145856:exon7:c.G756A:p.E252E,SH3BP2:NM_001122681:exon7:c.G585A:p.E195E,SH3BP2:NM_003023:exon7:c.G585A:p.E195E,SH3BP2:NM_001145855:exon7:c.G669A:p.E223E,;ANNO=splicing:SH3BP2
4	2833299	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:SH3BP2:NM_001145856:exon9:c.C1414T:p.R472X,SH3BP2:NM_001122681:exon9:c.C1243T:p.R415X,SH3BP2:NM_003023:exon9:c.C1243T:p.R415X,SH3BP2:NM_001145855:exon9:c.C1327T:p.R443X,;ANNO=splicing:SH3BP2
4	2934328	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MFSD10:NM_001120:exon4:c.T530C:p.M177T,MFSD10:NM_001146069:exon5:c.T530C:p.M177T,;ANNO=splicing:MFSD10
4	2940916	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NOP14:NM_003703:exon17:c.C2473T:p.R825W,;ANNO=splicing:NOP14
4	2956290	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NOP14:NM_003703:exon4:c.C473T:p.A158V,;ANNO=splicing:NOP14
4	2965344	.	G	T	100	PASS	AC=488;STUDIES=2;MAC=488;MAF=0.357;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:GRK4
4	2986239	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GRK4(NM_182982:c.52-1G>A,NM_001004057:c.52-1G>A)
4	3230343	.	T	G	100	PASS	AC=41;STUDIES=3;MAC=41;MAF=0.168;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HTT:NM_002111:exon58:c.T7850G:p.V2617G,;ANNO=splicing:HTT
4	3388163	.	C	T	100	PASS	AC=27;STUDIES=12;MAC=27;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RGS12:NM_002926:exon4:c.C2019T:p.G673G,RGS12:NM_198229:exon4:c.C2019T:p.G673G,RGS12:NM_198227:exon2:c.C75T:p.G25G,;ANNO=splicing:RGS12
4	3444460	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HGFAC:NM_001528:exon2:c.A119T:p.N40I,;ANNO=splicing:HGFAC
4	3449360	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HGFAC(NM_001528:c.1495+2T>C)
4	3516480	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:LRPAP1:NM_002337:exon7:c.C1010T:p.T337M,;ANNO=nonsynonymous:LRPAP1:NM_002337:exon7:c.C1010G:p.T337R,;ANNO=splicing:LRPAP1;ANNO=splicing:LRPAP1
4	3519762	.	A	G	100	PASS	AC=3513;STUDIES=21;MAC=3513;MAF=0.154;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LRPAP1:NM_002337:exon5:c.T750C:p.A250A,;ANNO=splicing:LRPAP1
4	4198893	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:OTOP1:NM_177998:exon5:c.G1668A:p.S556S,;ANNO=splicing:OTOP1
4	4207798	.	C	A	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:OTOP1(NM_177998:c.599+1G>T)
4	4207799	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OTOP1:NM_177998:exon3:c.G599A:p.R200K,;ANNO=splicing:OTOP1
4	4239661	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TMEM128:NM_032927:exon4:c.T328G:p.F110V,;ANNO=splicing:TMEM128
4	4281173	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LYAR(NM_001145725:c.429+1G>A,NM_017816:c.429+1G>A)
4	4281174	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LYAR:NM_001145725:exon6:c.C429T:p.S143S,LYAR:NM_017816:exon6:c.C429T:p.S143S,;ANNO=splicing:LYAR
4	4322368	.	G	A	100	PASS	AC=82;STUDIES=18;MAC=82;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZBTB49:NM_145291:exon8:c.G1623A:p.G541G,;ANNO=splicing:ZBTB49
4	4389331	.	G	A	100	PASS	AC=18;STUDIES=2;MAC=18;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:D4S234E
4	4473433	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:STX18:NM_016930:exon2:c.A169G:p.I57V,;ANNO=splicing:STX18
4	4864429	.	G	T	100	PASS	AC=19;STUDIES=3;MAC=19;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MSX1:NM_002448:exon2:c.G471T:p.R157S,;ANNO=splicing:MSX1
4	5018561	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CYTL1(NM_018659:c.327+2T>A)
4	5018861	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CYTL1(NM_018659:c.198+1G>A)
4	5021021	.	G	A	100	PASS	AC=476;STUDIES=22;MAC=476;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CYTL1:NM_018659:exon1:c.C152T:p.S51L,;ANNO=splicing:CYTL1
4	5399970	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:STK32B:NM_018401:exon5:c.C471T:p.H157H,;ANNO=splicing:STK32B
4	5527943	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C4orf6:NM_005750:exon2:c.G167A:p.G56E,;ANNO=splicing:C4orf6
4	5528061	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C4orf6(NM_005750:c.284+1G>A)
4	5627634	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EVC2:NM_001166136:exon13:c.G1648A:p.A550T,EVC2:NM_147127:exon13:c.G1888A:p.A630T,;ANNO=splicing:EVC2
4	5795335	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EVC:NM_153717:exon13:c.G1777A:p.V593M,;ANNO=splicing:EVC
4	6086694	.	T	A	100	PASS	AC=141;STUDIES=3;MAC=141;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=1;ANNO=splicing:JAKMIP1(NM_001099433:c.834-2A>T,NM_144720:c.834-2A>T)
4	6325320	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PPP2R2C:NM_001206996:exon10:c.C1002T:p.S334S,PPP2R2C:NM_001206994:exon10:c.C1032T:p.S344S,PPP2R2C:NM_001206995:exon10:c.C1032T:p.S344S,PPP2R2C:NM_181876:exon9:c.C1053T:p.S351S,;ANNO=splicing:PPP2R2C
4	6577074	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAN2B2:NM_015274:exon1:c.A137G:p.Q46R,;ANNO=splicing:MAN2B2
4	6611776	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAN2B2:NM_015274:exon13:c.G2258A:p.R753Q,;ANNO=splicing:MAN2B2
4	6843931	.	A	G	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIAA0232:NM_014743:exon4:c.A369G:p.E123E,KIAA0232:NM_001100590:exon3:c.A369G:p.E123E,;ANNO=splicing:KIAA0232
4	7002872	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TBC1D14:NM_001113361:exon7:c.G1164A:p.M388I,TBC1D14:NM_020773:exon7:c.G1164A:p.M388I,TBC1D14:NM_001113363:exon5:c.G324A:p.M108I,;ANNO=splicing:TBC1D14
4	7064113	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GRPEL1:NM_025196:exon3:c.C306T:p.Y102Y,;ANNO=splicing:GRPEL1
4	7716910	.	C	T	100	PASS	AC=2303;STUDIES=21;MAC=2303;MAF=0.101;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SORCS2:NM_020777:exon17:c.C2124T:p.C708C,;ANNO=splicing:SORCS2
4	7776466	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AFAP1:NM_001134647:exon15:c.G2062A:p.G688S,AFAP1:NM_198595:exon14:c.G1810A:p.G604S,;ANNO=splicing:AFAP1
4	7780490	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AFAP1:NM_001134647:exon14:c.G1896A:p.S632S,AFAP1:NM_198595:exon13:c.G1644A:p.S548S,;ANNO=splicing:AFAP1
4	7994594	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ABLIM2:NM_001130083:exon17:c.G1679A:p.R560Q,ABLIM2:NM_001130084:exon16:c.G1577A:p.R526Q,ABLIM2:NM_001130086:exon14:c.G1421A:p.R474Q,;ANNO=splicing:ABLIM2
4	8089896	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABLIM2:NM_001130083:exon4:c.A454G:p.S152G,ABLIM2:NM_032432:exon4:c.A454G:p.S152G,ABLIM2:NM_001130088:exon4:c.A454G:p.S152G,ABLIM2:NM_001130084:exon4:c.A454G:p.S152G,ABLIM2:NM_001130085:exon4:c.A454G:p.S152G,ABLIM2:NM_001130086:exon4:c.A454G:p.S152G,ABLIM2:NM_001130087:exon4:c.A454G:p.S152G,;ANNO=splicing:ABLIM2
4	8216307	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SH3TC1:NM_018986:exon5:c.G481A:p.G161S,;ANNO=splicing:SH3TC1
4	8233882	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SH3TC1:NM_018986:exon13:c.C3130T:p.R1044W,;ANNO=splicing:SH3TC1
4	8233883	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SH3TC1:NM_018986:exon13:c.G3131A:p.R1044Q,;ANNO=splicing:SH3TC1
4	8235241	.	G	A	100	PASS	AC=95;STUDIES=13;MAC=95;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SH3TC1(NM_018986:c.3282+1G>A)
4	8391339	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ACOX3:NM_003501:exon12:c.G1423A:p.D475N,ACOX3:NM_001101667:exon12:c.G1423A:p.D475N,;ANNO=splicing:ACOX3
4	8391340	.	G	A	100	PASS	AC=20;STUDIES=6;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ACOX3:NM_003501:exon12:c.C1422T:p.H474H,ACOX3:NM_001101667:exon12:c.C1422T:p.H474H,;ANNO=splicing:ACOX3
4	8411937	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACOX3(NM_003501:c.687+2T>C,NM_001101667:c.687+2T>C)
4	8467289	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:METTL19(NM_152544:c.1494+1G>A)
4	8609153	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CPZ(NM_001014447:c.1227+1G>A,NM_003652:c.1194+1G>A,NM_001014448:c.816+1G>A)
4	8616087	.	C	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=synonymous:CPZ:NM_003652:exon8:c.C1332A:p.G444G,CPZ:NM_001014447:exon9:c.C1365A:p.G455G,CPZ:NM_001014448:exon9:c.C954A:p.G318G,;ANNO=synonymous:CPZ:NM_003652:exon8:c.C1332T:p.G444G,CPZ:NM_001014447:exon9:c.C1365T:p.G455G,CPZ:NM_001014448:exon9:c.C954T:p.G318G,;ANNO=splicing:CPZ;ANNO=splicing:CPZ
4	8616224	.	C	T	100	PASS	AC=1053;STUDIES=17;MAC=1053;MAF=0.056;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:CPZ:NM_003652:exon8:c.C1469T:p.T490M,CPZ:NM_001014447:exon9:c.C1502T:p.T501M,CPZ:NM_001014448:exon9:c.C1091T:p.T364M,;ANNO=splicing:CPZ
4	9446261	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DEFB131:NM_001040448:exon1:c.T2C:p.M1T,;ANNO=splicing:DEFB131
4	10079377	.	C	T	100	PASS	AC=131;STUDIES=13;MAC=131;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:WDR1:NM_017491:exon13:c.G1569A:p.S523S,WDR1:NM_005112:exon10:c.G1149A:p.S383S,;ANNO=splicing:WDR1
4	10086063	.	A	G	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR1(NM_017491:c.1041+2T>C,NM_005112:c.621+2T>C)
4	10543646	.	C	A	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CLNK:NM_052964:exon10:c.G491T:p.R164L,;ANNO=splicing:CLNK
4	10566400	.	A	G	100	PASS	AC=16;STUDIES=7;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=synonymous:CLNK:NM_052964:exon7:c.T294C:p.D98D,;ANNO=nonsynonymous:CLNK:NM_052964:exon7:c.T294A:p.D98E,;ANNO=splicing:CLNK;ANNO=splicing:CLNK
4	10567633	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CLNK:NM_052964:exon6:c.G292A:p.D98N,;ANNO=splicing:CLNK
4	13583934	.	T	C	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BOD1L:NM_148894:exon19:c.A8519G:p.D2840G,;ANNO=splicing:BOD1L
4	13608741	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:BOD1L:NM_148894:exon9:c.G1815A:p.E605E,;ANNO=splicing:BOD1L
4	13612723	.	A	G	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BOD1L:NM_148894:exon6:c.T1326C:p.D442D,;ANNO=splicing:BOD1L
4	15517628	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CC2D2A(NM_001080522:c.1017+1G>A)
4	15713513	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BST1(NM_004334:c.534+1G>A)
4	15826640	.	G	T	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD38(NM_001775:c.499+1G>T)
4	15842075	.	A	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CD38:NM_001775:exon7:c.A753T:p.R251S,;ANNO=splicing:CD38
4	15992916	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PROM1:NM_001145849:exon17:c.A1912G:p.T638A,PROM1:NM_001145847:exon17:c.A1885G:p.T629A,PROM1:NM_006017:exon17:c.A1912G:p.T638A,PROM1:NM_001145851:exon16:c.A1885G:p.T629A,PROM1:NM_001145852:exon16:c.A1885G:p.T629A,PROM1:NM_001145848:exon17:c.A1885G:p.T629A,PROM1:NM_001145850:exon17:c.A1912G:p.T638A,;ANNO=splicing:PROM1
4	16002120	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PROM1:NM_001145849:exon13:c.G1577A:p.R526Q,PROM1:NM_001145847:exon13:c.G1550A:p.R517Q,PROM1:NM_006017:exon13:c.G1577A:p.R526Q,PROM1:NM_001145851:exon12:c.G1550A:p.R517Q,PROM1:NM_001145852:exon12:c.G1550A:p.R517Q,PROM1:NM_001145848:exon13:c.G1550A:p.R517Q,PROM1:NM_001145850:exon13:c.G1577A:p.R526Q,;ANNO=splicing:PROM1
4	16020162	.	C	T	100	PASS	AC=2388;STUDIES=21;MAC=2388;MAF=0.104;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PROM1:NM_001145849:exon8:c.G786A:p.A262A,PROM1:NM_001145847:exon8:c.G759A:p.A253A,PROM1:NM_006017:exon8:c.G786A:p.A262A,PROM1:NM_001145851:exon7:c.G759A:p.A253A,PROM1:NM_001145852:exon7:c.G759A:p.A253A,PROM1:NM_001145848:exon8:c.G759A:p.A253A,PROM1:NM_001145850:exon8:c.G786A:p.A262A,;ANNO=splicing:PROM1
4	17517141	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CLRN2:NM_001079827:exon1:c.G252A:p.T84T,;ANNO=splicing:CLRN2
4	17585107	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LAP3:NM_015907:exon5:c.G381A:p.A127A,;ANNO=splicing:LAP3
4	17814767	.	T	C	100	PASS	AC=22;STUDIES=5;MAC=22;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:NCAPG:NM_022346:exon3:c.T543C:p.N181N,;ANNO=splicing:NCAPG
4	17818884	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:NCAPG:NM_022346:exon6:c.A776G:p.D259G,;ANNO=splicing:NCAPG
4	17818885	.	T	C	100	PASS	AC=10070;STUDIES=20;MAC=10070;MAF=0.475;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:NCAPG:NM_022346:exon6:c.T777C:p.D259D,;ANNO=splicing:NCAPG
4	20482339	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLIT2:NM_004787:exon6:c.G468A:p.L156L,;ANNO=splicing:SLIT2
4	20543241	.	C	T	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLIT2:NM_004787:exon20:c.C2142T:p.D714D,;ANNO=splicing:SLIT2
4	20852166	.	A	G	100	PASS	AC=8982;STUDIES=21;MAC=8982;MAF=0.375;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KCNIP4:NM_001035004:exon2:c.T102C:p.N34N,KCNIP4:NM_001035003:exon2:c.T213C:p.N71N,KCNIP4:NM_147183:exon2:c.T225C:p.N75N,KCNIP4:NM_025221:exon2:c.T228C:p.N76N,KCNIP4:NM_147182:exon3:c.T102C:p.N34N,KCNIP4:NM_147181:exon1:c.T126C:p.N42N,;ANNO=splicing:KCNIP4
4	22422712	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GPR125:NM_145290:exon12:c.T1606C:p.Y536H,;ANNO=splicing:GPR125
4	24981689	.	A	T	100	PASS	AC=723;STUDIES=2;MAC=723;MAF=0.366;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC149
4	25156774	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SEPSECS(NM_016955:c.547-1G>A)
4	25419239	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ANAPC4:NM_013367:exon28:c.C2077T:p.L693L,;ANNO=splicing:ANAPC4
4	25676253	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC34A2(NM_006424:c.1458+2T>C,NM_001177998:c.1455+2T>C,NM_001177999:c.1455+2T>C)
4	25834731	.	G	A	100	PASS	AC=127;STUDIES=5;MAC=127;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SEL1L3:NM_015187:exon5:c.C984T:p.G328G,;ANNO=splicing:SEL1L3
4	25836819	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SEL1L3:NM_015187:exon3:c.T860C:p.V287A,;ANNO=splicing:SEL1L3
4	26322449	.	G	C	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:RBPJ
4	26484904	.	G	A	100	PASS	AC=55;STUDIES=16;MAC=55;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCKAR:NM_000730:exon4:c.C628T:p.H210Y,;ANNO=splicing:CCKAR
4	27019334	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:STIM2:NM_001169117:exon11:c.G1491T:p.G497G,STIM2:NM_001169118:exon12:c.G1515T:p.G505G,STIM2:NM_020860:exon11:c.G1491T:p.G497G,;ANNO=splicing:STIM2
4	36118684	.	C	T	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ARAP2:NM_015230:exon25:c.G4037A:p.R1346Q,;ANNO=splicing:ARAP2
4	36292326	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DTHD1(NM_001136536:c.348+1G>T,NM_001170700:c.843+1G>T)
4	37640126	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RELL1:NM_001085400:exon4:c.C386T:p.A129V,RELL1:NM_001085399:exon4:c.C386T:p.A129V,;ANNO=splicing:RELL1
4	37892721	.	G	C	100	PASS	AC=23;STUDIES=2;MAC=23;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:TBC1D1
4	38880046	.	T	C	100	PASS	AC=6237;STUDIES=22;MAC=6237;MAF=0.264;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM114A1:NM_138389:exon3:c.T347C:p.L116P,;ANNO=splicing:FAM114A1
4	38924391	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM114A1:NM_138389:exon9:c.G946A:p.V316I,;ANNO=splicing:FAM114A1
4	39216221	.	C	T	100	PASS	AC=5746;STUDIES=20;MAC=5746;MAF=0.281;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:WDR19:NM_025132:exon10:c.C891T:p.C297C,;ANNO=splicing:WDR19
4	39241898	.	G	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDR19:NM_025132:exon21:c.G2365A:p.G789S,;ANNO=splicing:WDR19
4	39310257	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RFC1:NM_001204747:exon13:c.C1884T:p.H628H,RFC1:NM_002913:exon13:c.C1884T:p.H628H,;ANNO=splicing:RFC1
4	39328181	.	A	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RFC1(NM_001204747:c.642+2T>A,NM_002913:c.642+2T>A)
4	39329376	.	T	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RFC1:NM_001204747:exon5:c.A332T:p.D111V,RFC1:NM_002913:exon5:c.A332T:p.D111V,;ANNO=splicing:RFC1
4	39881453	.	A	G	100	PASS	AC=21;STUDIES=5;MAC=21;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PDS5A:NM_001100399:exon18:c.T1887C:p.S629S,;ANNO=splicing:PDS5A
4	39978060	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PDS5A:NM_001100399:exon2:c.G138A:p.K46K,PDS5A:NM_001100400:exon2:c.G138A:p.K46K,;ANNO=splicing:PDS5A
4	40123928	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:N4BP2:NM_018177:exon9:c.A4197G:p.S1399S,;ANNO=splicing:N4BP2
4	40762452	.	T	C	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NSUN7:NM_024677:exon3:c.T300C:p.Y100Y,;ANNO=splicing:NSUN7
4	40796492	.	A	G	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NSUN7:NM_024677:exon9:c.A1281G:p.K427K,;ANNO=splicing:NSUN7
4	40947090	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:APBB2:NM_004307:exon7:c.C836T:p.A279V,;ANNO=splicing:APBB2
4	40947091	.	C	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:APBB2(NM_004307:c.835-1G>T)
4	42072544	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC30A9:NM_006345:exon15:c.C1254A:p.G418G,;ANNO=splicing:SLC30A9
4	42546002	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATP8A1:NM_006095:exon20:c.G1654A:p.A552T,ATP8A1:NM_001105529:exon19:c.G1609A:p.A537T,;ANNO=splicing:ATP8A1
4	42551031	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATP8A1:NM_006095:exon19:c.A1651G:p.S551G,ATP8A1:NM_001105529:exon18:c.A1606G:p.S536G,;ANNO=splicing:ATP8A1
4	44688041	.	G	A	100	PASS	AC=36;STUDIES=7;MAC=36;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GUF1(NM_021927:c.734+1G>A)
4	44712970	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GNPDA2:NM_138335:exon5:c.A594G:p.E198E,;ANNO=splicing:GNPDA2
4	47628422	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CORIN:NM_006587:exon17:c.G2315A:p.G772E,;ANNO=splicing:CORIN
4	47746602	.	T	A	100	PASS	AC=49;STUDIES=3;MAC=49;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CORIN(NM_006587:c.617-2A>T)
4	47857180	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NFXL1:NM_152995:exon20:c.C2317T:p.L773F,;ANNO=splicing:NFXL1
4	47951911	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CNGA1:NM_000087:exon6:c.G238A:p.E80K,CNGA1:NM_001142564:exon5:c.G445A:p.E149K,;ANNO=splicing:CNGA1
4	48091768	.	G	A	100	PASS	AC=565;STUDIES=21;MAC=565;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TXK:NM_003328:exon9:c.C783T:p.Y261Y,;ANNO=splicing:TXK
4	48106972	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TXK:NM_003328:exon6:c.G447A:p.E149E,;ANNO=splicing:TXK
4	48169969	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TEC:NM_003215:exon7:c.G497A:p.R166Q,;ANNO=splicing:TEC
4	48172266	.	G	A	100	PASS	AC=8341;STUDIES=21;MAC=8341;MAF=0.370;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:TEC:NM_003215:exon5:c.C453T:p.S151S,;ANNO=splicing:TEC
4	48558995	.	G	A	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FRYL:NM_015030:exon35:c.C4266T:p.Y1422Y,;ANNO=splicing:FRYL
4	48581258	.	T	C	100	PASS	AC=49;STUDIES=13;MAC=49;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FRYL:NM_015030:exon23:c.A2260G:p.T754A,;ANNO=splicing:FRYL
4	48582883	.	T	C	100	PASS	AC=18;STUDIES=10;MAC=18;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FRYL:NM_015030:exon22:c.A2258G:p.Q753R,;ANNO=splicing:FRYL
4	48853824	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OCIAD1:NM_001079840:exon7:c.C379G:p.H127D,OCIAD1:NM_001079839:exon7:c.C379G:p.H127D,OCIAD1:NM_017830:exon7:c.C379G:p.H127D,OCIAD1:NM_001168254:exon7:c.C394G:p.H132D,OCIAD1:NM_001079841:exon7:c.C379G:p.H127D,OCIAD1:NM_001079842:exon7:c.C379G:p.H127D,;ANNO=splicing:OCIAD1
4	48896023	.	G	C	100	PASS	AC=31;STUDIES=7;MAC=31;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OCIAD2:NM_152398:exon5:c.C265G:p.R89G,OCIAD2:NM_001014446:exon5:c.C265G:p.L89V,;ANNO=splicing:OCIAD2
4	49000476	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CWH43(NM_025087:c.713-1G>A)
4	49019264	.	A	T	100	PASS	AC=85;STUDIES=2;MAC=85;MAF=0.148;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CWH43(NM_025087:c.1186-2A>T)
4	52752804	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DCUN1D4:NM_001040402:exon6:c.C414T:p.N138N,DCUN1D4:NM_015115:exon6:c.C414T:p.N138N,;ANNO=splicing:DCUN1D4
4	52926584	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPATA18(NM_145263:c.87-1G>T)
4	52926585	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPATA18:NM_145263:exon2:c.A88G:p.T30A,;ANNO=splicing:SPATA18
4	54327211	.	T	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LNX1(NM_032622:c.1763-2A>T,NM_001126328:c.2051-2A>T)
4	54344908	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LNX1:NM_001126328:exon8:c.C1487A:p.P496H,LNX1:NM_032622:exon7:c.C1199A:p.P400H,;ANNO=splicing:LNX1
4	54880063	.	G	A	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CHIC2:NM_012110:exon5:c.C388T:p.L130L,;ANNO=splicing:CHIC2
4	55136800	.	G	C	100	PASS	AC=22;STUDIES=4;MAC=22;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PDGFRA:NM_006206:exon8:c.G1122C:p.R374S,;ANNO=splicing:PDGFRA
4	55143659	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDGFRA:NM_006206:exon13:c.C1891T:p.P631S,;ANNO=splicing:PDGFRA
4	55575704	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIT:NM_000222:exon7:c.T1230C:p.N410N,KIT:NM_001093772:exon7:c.T1230C:p.N410N,;ANNO=splicing:KIT
4	55598164	.	T	C	100	PASS	AC=21;STUDIES=3;MAC=21;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIT:NM_000222:exon16:c.T2361C:p.N787N,KIT:NM_001093772:exon16:c.T2349C:p.N783N,;ANNO=splicing:KIT
4	55946330	.	A	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KDR:NM_002253:exon30:c.T3849A:p.G1283G,;ANNO=splicing:KDR
4	55955969	.	C	T	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KDR:NM_002253:exon24:c.G3193A:p.A1065T,;ANNO=splicing:KDR
4	55961831	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KDR:NM_002253:exon20:c.G2730A:p.G910G,;ANNO=splicing:KDR
4	56471441	.	C	T	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NMU(NM_006681:c.435+1G>A)
4	56471515	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NMU:NM_006681:exon7:c.C362T:p.S121L,;ANNO=splicing:NMU
4	56766050	.	T	C	100	PASS	AC=105;STUDIES=6;MAC=105;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EXOC1:NM_001024924:exon17:c.T2337C:p.N779N,EXOC1:NM_178237:exon16:c.T2292C:p.N764N,EXOC1:NM_018261:exon17:c.T2337C:p.N779N,;ANNO=splicing:EXOC1
4	56835295	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEP135(NM_025009:c.1110+1G>A)
4	56886945	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:CEP135:NM_025009:exon24:c.C3319A:p.R1107R,;ANNO=stopgain:CEP135:NM_025009:exon24:c.C3319T:p.R1107X,;ANNO=splicing:CEP135;ANNO=splicing:CEP135
4	57176832	.	T	C	100	PASS	AC=581;STUDIES=21;MAC=581;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1211:NM_020722:exon6:c.T286C:p.S96P,;ANNO=splicing:KIAA1211
4	57219570	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AASDH:NM_181806:exon9:c.G1576A:p.G526S,;ANNO=splicing:AASDH
4	57219571	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AASDH:NM_181806:exon9:c.C1575T:p.H525H,;ANNO=splicing:AASDH
4	57221348	.	T	C	100	PASS	AC=709;STUDIES=21;MAC=709;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AASDH:NM_181806:exon6:c.A1103G:p.K368R,;ANNO=splicing:AASDH
4	57244314	.	C	A	100	PASS	AC=71;STUDIES=15;MAC=71;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AASDH:NM_181806:exon4:c.G668T:p.R223L,;ANNO=splicing:AASDH
4	57355648	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SRP72:NM_006947:exon13:c.A1319G:p.Q440R,;ANNO=splicing:SRP72
4	57516849	.	C	T	100	PASS	AC=454;STUDIES=7;MAC=454;MAF=0.062;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HOPX:NM_001145460:exon4:c.G328A:p.E110K,;ANNO=splicing:HOPX
4	57839314	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C4orf14:NM_032313:exon3:c.T1515C:p.C505C,;ANNO=splicing:C4orf14
4	62845490	.	A	G	100	PASS	AC=9476;STUDIES=15;MAC=4210;MAF=0.308;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=synonymous:LPHN3:NM_015236:exon15:c.A2811G:p.P937P,;ANNO=splicing:LPHN3
4	65155428	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TECRL:NM_001010874:exon9:c.G832A:p.G278R,;ANNO=splicing:TECRL
4	68378287	.	C	A	100	PASS	AC=35;STUDIES=6;MAC=35;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:CENPC1:NM_001812:exon9:c.G1445T:p.G482V,;ANNO=splicing:CENPC1
4	68534392	.	C	T	100	PASS	AC=3558;STUDIES=22;MAC=3558;MAF=0.147;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UBA6:NM_018227:exon9:c.G670A:p.A224T,;ANNO=splicing:UBA6
4	68610286	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GNRHR:NM_000406:exon2:c.G742A:p.E248K,GNRHR:NM_001012763:exon2:c.G614A:p.R205Q,;ANNO=splicing:GNRHR
4	68797710	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMPRSS11A(NM_001114387:c.320+1G>A,NM_182606:c.329+1G>A)
4	68797711	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMPRSS11A:NM_182606:exon4:c.C329T:p.T110I,TMPRSS11A:NM_001114387:exon4:c.C320T:p.T107I,;ANNO=splicing:TMPRSS11A
4	68938041	.	G	A	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMPRSS11F:NM_207407:exon5:c.C514T:p.P172S,;ANNO=splicing:TMPRSS11F
4	68995529	.	C	T	100	PASS	AC=7374;STUDIES=22;MAC=7374;MAF=0.304;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMPRSS11F:NM_207407:exon1:c.G10A:p.A4T,;ANNO=splicing:TMPRSS11F
4	69093792	.	T	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMPRSS11B(NM_182502:c.1089-2A>G)
4	69094459	.	C	A	100	PASS	AC=36;STUDIES=3;MAC=36;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMPRSS11B(NM_182502:c.1089+1G>T)
4	69098135	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMPRSS11B(NM_182502:c.469-1G>T)
4	69342156	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TMPRSS11E:NM_014058:exon7:c.C707T:p.T236I,;ANNO=splicing:TMPRSS11E
4	69342157	.	G	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMPRSS11E(NM_014058:c.707+1G>C)
4	69433479	.	C	G	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:UGT2B15:NM_001076:exon1:c.G724C:p.G242R,UGT2B17:NM_001077:exon1:c.G724C:p.G242R,;ANNO=splicing:UGT2B15,UGT2B17
4	69687987	.	C	A	100	PASS	AC=12216;STUDIES=11;MAC=278;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;HWE_FAILURES=2;ANNO=splicing:UGT2B10(NM_001144767:c.615-2C>A)
4	69693267	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UGT2B10(NM_001144767:c.1055+1G>A)
4	69796263	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UGT2A3(NM_024743:c.1304+1G>A)
4	69874575	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UGT2B10:NM_001075:exon6:c.A1277T:p.N426I,;ANNO=splicing:UGT2B10
4	69974040	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:UGT2B7:NM_001074:exon5:c.C1310T:p.S437L,;ANNO=splicing:UGT2B7
4	70070366	.	A	T	100	PASS	AC=209;STUDIES=5;MAC=209;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:UGT2B11:NM_001073:exon5:c.T1092A:p.G364G,;ANNO=splicing:UGT2B11
4	70070367	.	C	T	100	PASS	AC=30;STUDIES=5;MAC=30;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:UGT2B11:NM_001073:exon5:c.G1091A:p.G364D,;ANNO=splicing:UGT2B11
4	70078291	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:UGT2B11:NM_001073:exon2:c.G870A:p.K290K,;ANNO=splicing:UGT2B11
4	70460968	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UGT2A1(NM_006798:c.996-1G>A),UGT2A2(NM_001105677:c.1023-1G>A)
4	70592917	.	C	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SULT1B1:NM_014465:exon8:c.G780T:p.G260G,;ANNO=splicing:SULT1B1
4	70802283	.	G	C	100	PASS	AC=190;STUDIES=7;MAC=190;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CSN1S1(NM_001890:c.153-1G>C)
4	70920061	.	T	C	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:HTN1(NM_002159:c.72+2T>C)
4	71339723	.	G	A	100	PASS	AC=2651;STUDIES=13;MAC=2651;MAF=0.175;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:MUC7
4	71467135	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AMBN:NM_016519:exon6:c.T295C:p.Y99H,;ANNO=splicing:AMBN
4	71691841	.	G	A	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GRSF1:NM_001098477:exon7:c.C771T:p.N257N,GRSF1:NM_002092:exon7:c.C1257T:p.N419N,;ANNO=splicing:GRSF1
4	72319212	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC4A4:NM_001134742:exon12:c.G1323A:p.R441R,SLC4A4:NM_003759:exon9:c.G1191A:p.R397R,SLC4A4:NM_001098484:exon12:c.G1323A:p.R441R,;ANNO=splicing:SLC4A4
4	72620824	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GC:NM_001204306:exon10:c.G1035A:p.K345K,GC:NM_000583:exon9:c.G1035A:p.K345K,GC:NM_001204307:exon10:c.G1092A:p.K364K,;ANNO=splicing:GC
4	73003756	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NPFFR2(NM_004885:c.634-1G>A,NM_053036:c.328-1G>A,NM_001144756:c.337-1G>A)
4	73930495	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COX18:NM_173827:exon4:c.G720A:p.E240E,;ANNO=splicing:COX18
4	74270123	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ALB:NM_000477:exon1:c.C79T:p.H27Y,;ANNO=splicing:ALB
4	74279351	.	T	C	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALB:NM_000477:exon8:c.T1058C:p.M353T,;ANNO=splicing:ALB
4	74302064	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:AFP:NM_001134:exon1:c.G85A:p.A29T,;ANNO=nonsynonymous:AFP:NM_001134:exon1:c.G85C:p.A29P,;ANNO=splicing:AFP;ANNO=splicing:AFP
4	74309160	.	A	C	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AFP:NM_001134:exon6:c.A712C:p.I238L,;ANNO=splicing:AFP
4	74321009	.	T	C	100	PASS	AC=45;STUDIES=8;MAC=45;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AFP(NM_001134:c.1840+2T>C)
4	74353539	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AFM(NM_001133:c.713+1G>T)
4	74459311	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RASSF6(NM_177532:c.144-1G>A,NM_201431:c.240-1G>A)
4	74863730	.	C	G	100	PASS	AC=22;STUDIES=5;MAC=22;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CXCL5:NM_002994:exon3:c.G325C:p.G109R,;ANNO=splicing:CXCL5
4	75040407	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MTHFD2L:NM_001144978:exon2:c.G328C:p.G110R,;ANNO=splicing:MTHFD2L
4	75091018	.	G	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MTHFD2L(NM_001144978:c.712-1G>C)
4	75174292	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EPGN:NM_001013442:exon1:c.C42T:p.N14N,;ANNO=splicing:EPGN
4	75858580	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:PARM1:NM_015393:exon1:c.G43T:p.G15X,;ANNO=splicing:PARM1
4	75971374	.	C	T	100	PASS	AC=23;STUDIES=7;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PARM1:NM_015393:exon4:c.C850T:p.H284Y,;ANNO=splicing:PARM1
4	76521525	.	C	T	100	PASS	AC=169;STUDIES=14;MAC=169;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDKL2(NM_003948:c.1322-1G>A)
4	76695830	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:USO1:NM_003715:exon6:c.G406A:p.A136T,;ANNO=splicing:USO1
4	76720885	.	T	C	100	PASS	AC=9578;STUDIES=16;MAC=4298;MAF=0.310;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=3;ANNO=nonsynonymous:USO1:NM_003715:exon12:c.T1412C:p.F471S,;ANNO=splicing:USO1
4	76722353	.	G	A	100	PASS	AC=11493;STUDIES=17;MAC=4139;MAF=0.265;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:USO1:NM_003715:exon15:c.G1835A:p.R612K,;ANNO=splicing:USO1
4	76726294	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:USO1:NM_003715:exon17:c.A1976G:p.E659G,;ANNO=splicing:USO1
4	76731585	.	G	A	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:USO1:NM_003715:exon20:c.G2325A:p.L775L,;ANNO=splicing:USO1
4	76785594	.	T	G	100	PASS	AC=344;STUDIES=12;MAC=344;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PPEF2:NM_006239:exon16:c.A2007C:p.S669S,;ANNO=splicing:PPEF2
4	76805745	.	A	G	100	PASS	AC=656;STUDIES=16;MAC=656;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:PPEF2(NM_006239:c.746+2T>C)
4	76805747	.	C	G	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_REVERSE;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:PPEF2:NM_006239:exon8:c.G746C:p.R249P,;ANNO=splicing:PPEF2
4	76836137	.	A	G	100	PASS	AC=16786;STUDIES=21;MAC=5622;MAF=0.251;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:NAAA:NM_014435:exon10:c.T1000C:p.F334L,;ANNO=splicing:NAAA
4	76841062	.	C	T	100	PASS	AC=64;STUDIES=6;MAC=64;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NAAA:NM_001042402:exon8:c.G969A:p.Q323Q,NAAA:NM_014435:exon8:c.G969A:p.Q323Q,;ANNO=splicing:NAAA
4	76842103	.	C	T	100	PASS	AC=109;STUDIES=9;MAC=109;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NAAA(NM_001042402:c.839+1G>A,NM_014435:c.839+1G>A)
4	76842275	.	G	A	100	PASS	AC=354;STUDIES=12;MAC=354;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NAAA:NM_001042402:exon6:c.C668T:p.T223I,NAAA:NM_014435:exon6:c.C668T:p.T223I,;ANNO=splicing:NAAA
4	76857388	.	C	T	100	PASS	AC=4686;STUDIES=21;MAC=4686;MAF=0.209;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:NAAA:NM_001042402:exon3:c.G372A:p.V124V,NAAA:NM_014435:exon3:c.G372A:p.V124V,;ANNO=splicing:NAAA
4	76871949	.	A	C	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SDAD1:NM_018115:exon22:c.T2018G:p.L673W,;ANNO=splicing:SDAD1
4	76892610	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SDAD1:NM_018115:exon9:c.A713G:p.D238G,;ANNO=splicing:SDAD1
4	77021442	.	A	C	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:ART3(NM_001130017:c.847-2A>C,NM_001130016:c.847-2A>C,NM_001179:c.847-2A>C)
4	77022143	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ART3:NM_001179:exon8:c.G908A:p.G303D,ART3:NM_001130017:exon8:c.G908A:p.G303D,ART3:NM_001130016:exon8:c.G908A:p.G303D,;ANNO=splicing:ART3
4	77089557	.	C	T	100	PASS	AC=298;STUDIES=11;MAC=298;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SCARB2:NM_005506:exon9:c.G1186A:p.V396I,SCARB2:NM_001204255:exon6:c.G757A:p.V253I,;ANNO=splicing:SCARB2
4	77102253	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SCARB2:NM_005506:exon3:c.G277A:p.E93K,;ANNO=splicing:SCARB2
4	77184996	.	C	T	100	PASS	AC=78;STUDIES=6;MAC=78;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM47E:NM_001136570:exon3:c.C560T:p.P187L,;ANNO=splicing:FAM47E,FAM47E-STBD1
4	77184997	.	G	A	100	PASS	AC=45;STUDIES=2;MAC=45;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:FAM47E(NM_001242936:c.221+1G>A,NM_001136570:c.560+1G>A),FAM47E-STBD1(NM_001242939:c.560+1G>A);ANNO=splicing:FAM47E(NM_001242936:c.221+1G>C,NM_001136570:c.560+1G>C),FAM47E-STBD1(NM_001242939:c.560+1G>C)
4	77184997	.	G	C	100	PASS	AC=34;STUDIES=2;MAC=34;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:FAM47E(NM_001242936:c.221+1G>A,NM_001136570:c.560+1G>A),FAM47E-STBD1(NM_001242939:c.560+1G>A);ANNO=splicing:FAM47E(NM_001242936:c.221+1G>C,NM_001136570:c.560+1G>C),FAM47E-STBD1(NM_001242939:c.560+1G>C)
4	77253584	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC158(NM_001042784:c.2870+1G>A)
4	77278678	.	C	T	100	PASS	AC=268;STUDIES=19;MAC=268;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCDC158:NM_001042784:exon13:c.G2022A:p.E674E,;ANNO=splicing:CCDC158
4	77290579	.	C	T	100	PASS	AC=278;STUDIES=10;MAC=278;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CCDC158:NM_001042784:exon10:c.G1347A:p.Q449Q,;ANNO=splicing:CCDC158
4	77651958	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SHROOM3:NM_020859:exon4:c.C457T:p.R153C,;ANNO=splicing:SHROOM3
4	77979788	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCNI:NM_006835:exon3:c.A115C:p.N39H,;ANNO=splicing:CCNI
4	78085427	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCNG2:NM_004354:exon7:c.A706G:p.I236V,;ANNO=splicing:CCNG2
4	78678104	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CNOT6L:NM_144571:exon5:c.C402T:p.G134G,;ANNO=splicing:CNOT6L
4	79166478	.	A	T	100	PASS	AC=203;STUDIES=15;MAC=203;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FRAS1:NM_025074:exon4:c.A308T:p.E103V,FRAS1:NM_001166133:exon4:c.A308T:p.E103V,;ANNO=splicing:FRAS1
4	79238662	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FRAS1:NM_025074:exon17:c.G1960A:p.A654T,FRAS1:NM_001166133:exon17:c.G1960A:p.A654T,;ANNO=splicing:FRAS1
4	79368033	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FRAS1:NM_025074:exon43:c.C6009T:p.H2003H,;ANNO=splicing:FRAS1
4	79373329	.	A	G	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FRAS1:NM_025074:exon47:c.A6584G:p.E2195G,;ANNO=splicing:FRAS1
4	79440634	.	A	G	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FRAS1:NM_025074:exon67:c.A10539G:p.T3513T,;ANNO=splicing:FRAS1
4	79518474	.	A	G	100	PASS	AC=41;STUDIES=6;MAC=41;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ANXA3:NM_005139:exon10:c.A636G:p.T212T,;ANNO=splicing:ANXA3
4	79531211	.	C	T	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ANXA3:NM_005139:exon13:c.C914T:p.S305L,;ANNO=splicing:ANXA3
4	80952845	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ANTXR2:NM_001145794:exon10:c.T798C:p.S266S,ANTXR2:NM_058172:exon10:c.T798C:p.S266S,;ANNO=splicing:ANTXR2
4	81283906	.	A	G	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C4orf22(NM_001206997:c.111-2A>G,NM_152770:c.111-2A>G)
4	81504336	.	G	A	100	PASS	AC=85;STUDIES=7;MAC=85;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C4orf22:NM_001206997:exon3:c.G332A:p.S111N,C4orf22:NM_152770:exon3:c.G332A:p.S111N,;ANNO=splicing:C4orf22
4	81884672	.	C	T	100	PASS	AC=31;STUDIES=2;MAC=31;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C4orf22:NM_001206997:exon7:c.C659T:p.A220V,C4orf22:NM_152770:exon6:c.C608T:p.A203V,;ANNO=splicing:C4orf22
4	82380669	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RASGEF1B
4	83411215	.	G	A	100	PASS	AC=17;STUDIES=7;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TMEM150C:NM_001080506:exon7:c.C540T:p.L180L,;ANNO=splicing:TMEM150C
4	83417347	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TMEM150C:NM_001080506:exon6:c.C237T:p.A79A,;ANNO=splicing:TMEM150C
4	83601861	.	T	C	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SCD5:NM_001037582:exon3:c.A568G:p.K190E,SCD5:NM_024906:exon3:c.A568G:p.N190D,;ANNO=splicing:SCD5
4	83763292	.	C	A	100	PASS	AC=29;STUDIES=5;MAC=29;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SEC31A(NM_001077207:c.2968+1G>T,NM_014933:c.2968+1G>T,NM_016211:c.2851+1G>T)
4	84029102	.	G	A	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:PLAC8
4	84347246	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HELQ(NM_133636:c.2676-1G>A)
4	84511351	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AGPAT9(NM_032717:c.644-1G>A)
4	84518066	.	G	C	100	PASS	AC=36;STUDIES=11;MAC=36;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AGPAT9:NM_032717:exon8:c.G910C:p.G304R,;ANNO=splicing:AGPAT9
4	85710879	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:WDFY3:NM_014991:exon22:c.G3669A:p.K1223K,;ANNO=splicing:WDFY3
4	85731497	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WDFY3:NM_014991:exon14:c.G1888A:p.A630T,;ANNO=splicing:WDFY3
4	86896041	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARHGAP24:NM_031305:exon4:c.G454A:p.G152S,ARHGAP24:NM_001025616:exon7:c.G733A:p.G245S,ARHGAP24:NM_001042669:exon5:c.G448A:p.G150S,;ANNO=splicing:ARHGAP24
4	87028376	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MAPK10:NM_138982:exon5:c.C366T:p.N122N,MAPK10:NM_138980:exon5:c.C252T:p.N84N,MAPK10:NM_002753:exon5:c.C366T:p.N122N,;ANNO=splicing:MAPK10
4	87685876	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTPN13:NM_080684:exon22:c.C3575T:p.T1192M,PTPN13:NM_080683:exon25:c.C4148T:p.T1383M,PTPN13:NM_006264:exon24:c.C4091T:p.T1364M,PTPN13:NM_080685:exon25:c.C4148T:p.T1383M,;ANNO=splicing:PTPN13
4	87686641	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:PTPN13:NM_080684:exon23:c.G3670A:p.G1224S,PTPN13:NM_080683:exon26:c.G4243A:p.G1415S,PTPN13:NM_006264:exon25:c.G4186A:p.G1396S,PTPN13:NM_080685:exon26:c.G4258A:p.G1420S,;ANNO=nonsynonymous:PTPN13:NM_080684:exon23:c.G3670C:p.G1224R,PTPN13:NM_080683:exon26:c.G4243C:p.G1415R,PTPN13:NM_006264:exon25:c.G4186C:p.G1396R,PTPN13:NM_080685:exon26:c.G4258C:p.G1420R,;ANNO=splicing:PTPN13;ANNO=splicing:PTPN13
4	87688969	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PTPN13(NM_006264:c.4272-1G>A,NM_080685:c.4344-1G>A,NM_080684:c.3756-1G>A,NM_080683:c.4329-1G>A)
4	88238244	.	C	T	100	PASS	AC=62;STUDIES=8;MAC=62;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:HSD17B13:NM_001136230:exon2:c.G342A:p.W114X,HSD17B13:NM_178135:exon3:c.G450A:p.W150X,;ANNO=splicing:HSD17B13
4	88580405	.	G	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DMP1(NM_004407:c.135+1G>T,NM_001079911:c.135+1G>T)
4	88901197	.	G	A	100	PASS	AC=21;STUDIES=9;MAC=21;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPP1(NM_000582:c.93-1G>A,NM_001040058:c.93-1G>A)
4	88901545	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPP1:NM_001040058:exon5:c.A175T:p.N59Y,SPP1:NM_001040060:exon4:c.A94T:p.N32Y,;ANNO=splicing:SPP1
4	89015728	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCG2(NM_004827:c.1820+1G>A)
4	89053728	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ABCG2:NM_004827:exon3:c.C263T:p.S88L,;ANNO=splicing:ABCG2
4	89338731	.	G	T	100	PASS	AC=101;STUDIES=13;MAC=101;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HERC6:NM_017912:exon13:c.G1713T:p.K571N,HERC6:NM_001165136:exon13:c.G1713T:p.K571N,;ANNO=splicing:HERC6
4	89607952	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HERC3:NM_014606:exon22:c.C2573T:p.T858M,;ANNO=splicing:HERC3
4	89653153	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM13A:NM_014883:exon22:c.T2843C:p.I948T,FAM13A:NM_001015045:exon16:c.T1865C:p.I622T,;ANNO=splicing:FAM13A
4	89658706	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM13A:NM_014883:exon21:c.G2563A:p.G855S,FAM13A:NM_001015045:exon15:c.G1585A:p.G529S,;ANNO=splicing:FAM13A
4	89668083	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FAM13A:NM_014883:exon19:c.G2466A:p.P822P,FAM13A:NM_001015045:exon13:c.G1488A:p.P496P,;ANNO=splicing:FAM13A
4	89680051	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM13A:NM_014883:exon14:c.G1580A:p.S527N,FAM13A:NM_001015045:exon8:c.G602A:p.S201N,;ANNO=splicing:FAM13A
4	89912303	.	T	C	100	PASS	AC=36;STUDIES=10;MAC=36;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM13A(NM_014883:c.427-2A>G)
4	90844317	.	A	G	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MMRN1(NM_007351:c.850-2A>G)
4	91645066	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM190A:NM_001145065:exon7:c.G1934A:p.S645N,FAM190A:NM_207491:exon7:c.G1934A:p.S645N,;ANNO=splicing:FAM190A
4	93225894	.	C	T	100	PASS	AC=24;STUDIES=6;MAC=24;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GRID2:NM_001510:exon1:c.C87T:p.I29I,;ANNO=splicing:GRID2
4	95197625	.	T	C	100	PASS	AC=33;STUDIES=9;MAC=33;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SMARCAD1:NM_001128429:exon15:c.T1944C:p.N648N,SMARCAD1:NM_020159:exon15:c.T1944C:p.N648N,SMARCAD1:NM_001128430:exon15:c.T1944C:p.N648N,;ANNO=splicing:SMARCAD1
4	96045056	.	C	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BMPR1B:NM_001203:exon7:c.C445T:p.R149W,;ANNO=splicing:BMPR1B
4	96256562	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:UNC5C:NM_003728:exon2:c.C345T:p.S115S,;ANNO=splicing:UNC5C
4	98865047	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C4orf37(NM_174952:c.1044+1G>A)
4	99338519	.	T	C	100	PASS	AC=59;STUDIES=15;MAC=59;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RAP1GDS1:NM_001100428:exon8:c.T765C:p.D255D,RAP1GDS1:NM_001100427:exon9:c.T909C:p.D303D,RAP1GDS1:NM_001100429:exon8:c.T762C:p.D254D,RAP1GDS1:NM_021159:exon9:c.T912C:p.D304D,RAP1GDS1:NM_001100430:exon7:c.T636C:p.D212D,RAP1GDS1:NM_001100426:exon9:c.T912C:p.D304D,;ANNO=splicing:RAP1GDS1
4	99982306	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:METAP1:NM_015143:exon11:c.C999T:p.G333G,;ANNO=splicing:METAP1
4	100045616	.	C	T	100	PASS	AC=17390;STUDIES=22;MAC=6796;MAF=0.281;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADH4:NM_000670:exon9:c.G1120A:p.V374I,;ANNO=splicing:ADH4
4	100057618	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADH4:NM_000670:exon5:c.A581C:p.K194T,;ANNO=splicing:ADH4
4	100205872	.	C	G	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADH1A(NM_000667:c.347+1G>C)
4	100229021	.	A	C	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_REVERSE;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:ADH1B:NM_000668:exon9:c.T1104G:p.S368R,;ANNO=splicing:ADH1B
4	100336773	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADH7:NM_000673:exon8:c.G998T:p.G333V,ADH7:NM_001166504:exon8:c.G1022T:p.G341V,;ANNO=splicing:ADH7
4	100475092	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RG9MTD2(NM_001134666:c.495-1G>A,NM_152292:c.495-1G>A,NM_001134665:c.495-1G>A)
4	100512392	.	G	A	100	PASS	AC=209;STUDIES=19;MAC=209;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MTTP:NM_000253:exon6:c.G502A:p.V168I,;ANNO=splicing:MTTP
4	100826754	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:DNAJB14:NM_001031723:exon6:c.C842T:p.S281F,;ANNO=splicing:DNAJB14
4	100869244	.	G	A	100	PASS	AC=99;STUDIES=2;MAC=99;MAF=0.062;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:H2AFZ
4	101368728	.	G	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EMCN:NM_016242:exon5:c.C377A:p.T126N,;ANNO=splicing:EMCN
4	103184317	.	C	G	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC39A8:NM_001135146:exon9:c.G1267C:p.V423L,SLC39A8:NM_001135148:exon8:c.G1066C:p.V356L,SLC39A8:NM_022154:exon8:c.G1267C:p.V423L,;ANNO=splicing:SLC39A8(NM_001135147:c.1266+1G>C)
4	103488291	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NFKB1:NM_001165412:exon6:c.G403A:p.G135S,NFKB1:NM_003998:exon6:c.G406A:p.G136S,;ANNO=splicing:NFKB1
4	103537592	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NFKB1:NM_001165412:exon24:c.C2748T:p.D916D,NFKB1:NM_003998:exon24:c.C2751T:p.D917D,;ANNO=splicing:NFKB1
4	103595227	.	C	A	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MANBA:NM_005908:exon8:c.G961T:p.V321F,;ANNO=splicing:MANBA
4	104007635	.	A	C	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BDH2(NM_020139:c.418+2T>G)
4	104016361	.	C	T	100	PASS	AC=40;STUDIES=8;MAC=40;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BDH2:NM_020139:exon3:c.G150A:p.P50P,;ANNO=splicing:BDH2
4	104032167	.	C	T	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CENPE:NM_001813:exon47:c.G7542A:p.V2514V,;ANNO=splicing:CENPE
4	104060947	.	C	G	100	PASS	AC=18;STUDIES=12;MAC=18;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CENPE:NM_001813:exon38:c.G6203C:p.R2068T,;ANNO=splicing:CENPE
4	104074204	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CENPE:NM_001813:exon25:c.G3237A:p.M1079I,;ANNO=splicing:CENPE
4	106621170	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:INTS12
4	106888601	.	C	T	100	PASS	AC=74;STUDIES=15;MAC=74;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NPNT:NM_001033047:exon11:c.C1602T:p.S534S,NPNT:NM_001184691:exon12:c.C1692T:p.S564S,NPNT:NM_001184690:exon12:c.C1653T:p.S551S,NPNT:NM_001184693:exon11:c.C1605T:p.S535S,NPNT:NM_001184692:exon10:c.C1515T:p.S505S,;ANNO=splicing:NPNT
4	107092429	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TBCK(NM_001163435:c.2059-2A>G,NM_033115:c.1870-2A>G,NM_001163437:c.1942-2A>G,NM_001163436:c.2059-2A>G)
4	107171575	.	C	T	100	PASS	AC=19;STUDIES=6;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TBCK:NM_001163437:exon7:c.G541A:p.D181N,TBCK:NM_033115:exon5:c.G469A:p.D157N,TBCK:NM_001163435:exon7:c.G658A:p.D220N,TBCK:NM_001163436:exon7:c.G658A:p.D220N,;ANNO=splicing:TBCK
4	107842959	.	T	C	100	PASS	AC=449;STUDIES=2;MAC=449;MAF=0.266;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:DKK2
4	107957453	.	G	A	100	PASS	AC=14;STUDIES=2;MAC=14;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:DKK2
4	108984819	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LEF1:NM_001166119:exon10:c.G878A:p.G293D,LEF1:NM_001130713:exon10:c.G1082A:p.G361D,LEF1:NM_016269:exon11:c.G1166A:p.G389D,;ANNO=splicing:LEF1
4	109000649	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LEF1:NM_001166119:exon6:c.G556A:p.V186M,LEF1:NM_001130713:exon6:c.G760A:p.V254M,LEF1:NM_001130714:exon6:c.G760A:p.V254M,LEF1:NM_016269:exon7:c.G844A:p.V282M,;ANNO=splicing:LEF1
4	109086254	.	G	A	100	PASS	AC=68;STUDIES=7;MAC=68;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LEF1:NM_001166119:exon2:c.C75T:p.D25D,LEF1:NM_001130713:exon2:c.C279T:p.D93D,LEF1:NM_001130714:exon2:c.C279T:p.D93D,LEF1:NM_016269:exon2:c.C279T:p.D93D,;ANNO=splicing:LEF1
4	109543360	.	G	T	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:RPL34:NM_033625:exon3:c.G165T:p.G55G,RPL34:NM_000995:exon3:c.G165T:p.G55G,;ANNO=splicing:RPL34
4	109667686	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AGXT2L1(NM_001146590:c.1154-1G>A,NM_031279:c.1172-1G>A,NM_001146627:c.998-1G>A)
4	109681461	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AGXT2L1:NM_001146590:exon2:c.C58A:p.P20T,AGXT2L1:NM_031279:exon2:c.C58A:p.P20T,;ANNO=splicing:AGXT2L1
4	109767296	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL25A1:NM_198721:exon27:c.C1514T:p.P505L,COL25A1:NM_032518:exon27:c.C1514T:p.P505L,;ANNO=splicing:COL25A1
4	109971282	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL25A1(NM_198721:c.420+1C>T,NM_032518:c.420+1C>T)
4	110452542	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SEC24B:NM_006323:exon20:c.A3254T:p.K1085I,SEC24B:NM_001042734:exon19:c.A3149T:p.K1050I,;ANNO=splicing:SEC24B
4	110638871	.	T	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLA2G12A(NM_030821:c.285-2A>T)
4	110681679	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CFI:NM_000204:exon5:c.G772A:p.A258T,;ANNO=splicing:CFI
4	110743643	.	C	T	100	PASS	AC=46;STUDIES=6;MAC=46;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GAR1:NM_032993:exon5:c.C570T:p.G190G,GAR1:NM_018983:exon5:c.C570T:p.G190G,;ANNO=splicing:GAR1
4	110789102	.	G	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRIT3:NM_198506:exon2:c.G760C:p.V254L,;ANNO=splicing:LRIT3
4	110882145	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:EGF:NM_001963:exon7:c.C1189T:p.Q397X,EGF:NM_001178130:exon7:c.C1189T:p.Q397X,EGF:NM_001178131:exon6:c.C1063T:p.Q355X,;ANNO=splicing:EGF
4	110890274	.	G	A	100	PASS	AC=60;STUDIES=15;MAC=60;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EGF:NM_001963:exon11:c.G1723A:p.G575R,EGF:NM_001178130:exon11:c.G1723A:p.G575R,EGF:NM_001178131:exon10:c.G1597A:p.G533R,;ANNO=splicing:EGF
4	110901983	.	A	G	100	PASS	AC=19;STUDIES=8;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EGF:NM_001963:exon15:c.A2223G:p.G741G,EGF:NM_001178130:exon15:c.A2223G:p.G741G,EGF:NM_001178131:exon14:c.A2097G:p.G699G,;ANNO=splicing:EGF
4	110916036	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EGF:NM_001963:exon20:c.A3005G:p.N1002S,EGF:NM_001178130:exon19:c.A2882G:p.N961S,EGF:NM_001178131:exon19:c.A2879G:p.N960S,;ANNO=splicing:EGF
4	111430963	.	G	A	100	PASS	AC=239;STUDIES=8;MAC=239;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ENPEP:NM_001977:exon5:c.G1194A:p.Q398Q,;ANNO=splicing:ENPEP
4	111434571	.	C	A	100	PASS	AC=24;STUDIES=5;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ENPEP:NM_001977:exon7:c.C1309A:p.R437S,;ANNO=splicing:ENPEP
4	111434572	.	G	A	100	PASS	AC=83;STUDIES=15;MAC=83;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ENPEP:NM_001977:exon7:c.G1310A:p.R437H,;ANNO=splicing:ENPEP
4	111441371	.	G	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ENPEP:NM_001977:exon10:c.G1576C:p.A526P,;ANNO=splicing:ENPEP
4	111470684	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=synonymous:ENPEP:NM_001977:exon16:c.G2226A:p.K742K,;ANNO=nonsynonymous:ENPEP:NM_001977:exon16:c.G2226T:p.K742N,;ANNO=splicing:ENPEP;ANNO=splicing:ENPEP
4	111470684	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:ENPEP:NM_001977:exon16:c.G2226A:p.K742K,;ANNO=nonsynonymous:ENPEP:NM_001977:exon16:c.G2226T:p.K742N,;ANNO=splicing:ENPEP;ANNO=splicing:ENPEP
4	111470871	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ENPEP(NM_001977:c.2330-1G>A)
4	111474611	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ENPEP:NM_001977:exon18:c.G2642A:p.R881K,;ANNO=splicing:ENPEP
4	113359801	.	T	C	100	PASS	AC=222;STUDIES=20;MAC=222;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALPK1:NM_025144:exon13:c.T3350C:p.L1117P,ALPK1:NM_001102406:exon13:c.T3350C:p.L1117P,;ANNO=splicing:ALPK1
4	113462110	.	A	G	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C4orf21:NM_018392:exon26:c.T5777C:p.I1926T,;ANNO=splicing:C4orf21
4	113468440	.	C	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C4orf21(NM_018392:c.5598+1G>C)
4	113468564	.	C	T	100	PASS	AC=1190;STUDIES=18;MAC=1190;MAF=0.060;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C4orf21:NM_018392:exon24:c.G5475A:p.R1825R,;ANNO=splicing:C4orf21
4	113538595	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:C4orf21(NM_018392:c.2602+1G>T);ANNO=splicing:C4orf21(NM_018392:c.2602+1G>A)
4	113541346	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C4orf21:NM_018392:exon5:c.G163A:p.V55M,;ANNO=splicing:C4orf21
4	113568111	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:LARP7:NM_016648:exon5:c.G552C:p.E184D,LARP7:NM_015454:exon5:c.G552C:p.E184D,;ANNO=splicing:LARP7
4	114267056	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ANK2:NM_020977:exon35:c.G4249A:p.V1417I,ANK2:NM_001148:exon35:c.G4249A:p.V1417I,ANK2:NM_001127493:exon37:c.G4222A:p.V1408I,;ANNO=splicing:ANK2
4	114269433	.	A	G	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ANK2:NM_020977:exon36:c.A4373G:p.E1458G,ANK2:NM_001148:exon36:c.A4373G:p.E1458G,ANK2:NM_001127493:exon38:c.A4346G:p.E1449G,;ANNO=splicing:ANK2
4	119203985	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRSS12(NM_003619:c.2320+1G>A)
4	119229592	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PRSS12:NM_003619:exon8:c.A1630G:p.K544E,;ANNO=splicing:PRSS12
4	119253022	.	C	T	100	PASS	AC=20;STUDIES=5;MAC=20;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRSS12(NM_003619:c.820-1G>A)
4	119736607	.	C	T	100	PASS	AC=1163;STUDIES=21;MAC=1163;MAF=0.051;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SEC24D:NM_014822:exon5:c.G672A:p.Q224Q,;ANNO=splicing:SEC24D
4	120072195	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYOZ2:NM_016599:exon3:c.A245C:p.N82T,;ANNO=splicing:MYOZ2
4	120422407	.	T	G	100	PASS	AC=13;STUDIES=7;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PDE5A:NM_033437:exon20:c.A2252C:p.D751A,PDE5A:NM_001083:exon20:c.A2408C:p.D803A,PDE5A:NM_033430:exon20:c.A2282C:p.D761A,;ANNO=splicing:PDE5A
4	120423809	.	A	G	100	PASS	AC=46;STUDIES=16;MAC=46;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PDE5A:NM_033437:exon19:c.T2177C:p.I726T,PDE5A:NM_001083:exon19:c.T2333C:p.I778T,PDE5A:NM_033430:exon19:c.T2207C:p.I736T,;ANNO=splicing:PDE5A
4	122617780	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANXA5
4	122683047	.	C	T	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:TMEM155
4	122725915	.	G	A	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EXOSC9(NM_005033:c.522+1G>A,NM_001034194:c.522+1G>A)
4	122782660	.	T	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:BBS7:NM_176824:exon4:c.A340G:p.M114V,BBS7:NM_018190:exon4:c.A340G:p.M114V,;ANNO=nonsynonymous:BBS7:NM_176824:exon4:c.A340C:p.M114L,BBS7:NM_018190:exon4:c.A340C:p.M114L,;ANNO=splicing:BBS7;ANNO=splicing:BBS7
4	123164153	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1109:NM_015312:exon28:c.G4672A:p.V1558I,;ANNO=splicing:KIAA1109
4	123246385	.	T	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1109:NM_015312:exon63:c.T10905G:p.S3635R,;ANNO=splicing:KIAA1109
4	123254784	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KIAA1109:NM_015312:exon66:c.G11466A:p.R3822R,;ANNO=splicing:KIAA1109
4	123301250	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAD1:NM_139243:exon3:c.A26G:p.Q9R,ADAD1:NM_001159285:exon2:c.A26G:p.Q9R,;ANNO=splicing:ADAD1
4	123301396	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADAD1:NM_139243:exon3:c.G172A:p.G58S,ADAD1:NM_001159295:exon2:c.G118A:p.G40S,ADAD1:NM_001159285:exon2:c.G172A:p.G58S,;ANNO=splicing:ADAD1
4	123868644	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPATA5(NM_145207:c.1714+1G>A)
4	123977543	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPATA5:NM_145207:exon12:c.G2081A:p.G694E,;ANNO=splicing:SPATA5
4	126369617	.	T	C	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FAT4:NM_024582:exon9:c.T7446C:p.G2482G,;ANNO=splicing:FAT4
4	128813668	.	T	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLK4:NM_001190801:exon10:c.T2064A:p.D688E,PLK4:NM_001190799:exon9:c.T2091A:p.D697E,PLK4:NM_014264:exon10:c.T2187A:p.D729E,;ANNO=splicing:PLK4
4	128904204	.	C	T	100	PASS	AC=21;STUDIES=3;MAC=21;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C4orf29(NM_001039717:c.92+2C>T)
4	128905492	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C4orf29(NM_001039717:c.92-2A>G)
4	128938656	.	C	T	100	PASS	AC=30;STUDIES=9;MAC=30;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C4orf29:NM_001039717:exon8:c.C609T:p.H203H,;ANNO=splicing:C4orf29
4	128941236	.	T	C	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C4orf29:NM_001039717:exon9:c.T611C:p.M204T,;ANNO=splicing:C4orf29
4	129867307	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SCLT1:NM_144643:exon16:c.A1294T:p.I432F,;ANNO=splicing:SCLT1
4	129869725	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCLT1:NM_144643:exon15:c.G1219A:p.E407K,;ANNO=splicing:SCLT1
4	139100372	.	C	T	100	PASS	AC=19578;STUDIES=17;MAC=964;MAF=0.047;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=1;ANNO=splicing:SLC7A11(NM_014331:c.1442+1G>A)
4	139153535	.	G	A	100	PASS	AC=22;STUDIES=12;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC7A11:NM_014331:exon3:c.C406T:p.P136S,;ANNO=splicing:SLC7A11
4	140189919	.	C	A	100	PASS	AC=26;STUDIES=5;MAC=26;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:C4orf49:NM_032623:exon3:c.G187T:p.A63S,;ANNO=nonsynonymous:C4orf49:NM_032623:exon3:c.G187C:p.A63P,;ANNO=splicing:C4orf49;ANNO=splicing:C4orf49
4	140270734	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NAA15:NM_057175:exon7:c.A810G:p.P270P,;ANNO=splicing:NAA15
4	140624689	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MGST2:NM_001204366:exon4:c.C310T:p.R104W,MGST2:NM_001204367:exon3:c.C106T:p.R36W,MGST2:NM_002413:exon4:c.C310T:p.R104W,;ANNO=splicing:MGST2
4	141321510	.	C	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLGN(NM_001130675:c.694+1G>T,NM_004362:c.694+1G>T)
4	141481163	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UCP1:NM_021833:exon6:c.T811C:p.L271L,;ANNO=splicing:UCP1
4	141489131	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UCP1:NM_021833:exon2:c.G127T:p.V43F,;ANNO=splicing:UCP1
4	141600356	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TBC1D9:NM_015130:exon5:c.G591A:p.A197A,;ANNO=splicing:TBC1D9
4	142145641	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZNF330:NM_014487:exon3:c.G121A:p.E41K,;ANNO=splicing:ZNF330
4	143043397	.	G	A	100	PASS	AC=1654;STUDIES=21;MAC=1654;MAF=0.070;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:INPP4B:NM_003866:exon22:c.C2019T:p.S673S,INPP4B:NM_001101669:exon21:c.C2019T:p.S673S,;ANNO=splicing:INPP4B
4	143044445	.	T	C	100	PASS	AC=38;STUDIES=13;MAC=38;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:INPP4B:NM_003866:exon21:c.A2017G:p.S673G,INPP4B:NM_001101669:exon20:c.A2017G:p.S673G,;ANNO=splicing:INPP4B
4	143067148	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:INPP4B:NM_003866:exon19:c.A1565G:p.D522G,INPP4B:NM_001101669:exon18:c.A1565G:p.D522G,;ANNO=splicing:INPP4B
4	143235865	.	C	G	100	PASS	AC=3362;STUDIES=22;MAC=3362;MAF=0.138;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:INPP4B:NM_003866:exon9:c.G423C:p.G141G,INPP4B:NM_001101669:exon8:c.G423C:p.G141G,;ANNO=splicing:INPP4B
4	143350369	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:INPP4B:NM_003866:exon6:c.T93C:p.S31S,INPP4B:NM_001101669:exon5:c.T93C:p.S31S,;ANNO=splicing:INPP4B
4	144801662	.	C	T	100	PASS	AC=5229;STUDIES=9;MAC=1919;MAF=0.268;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:GYPE:NM_002102:exon2:c.G38C:p.G13A,GYPE:NM_198682:exon2:c.G38C:p.G13A,;ANNO=nonsynonymous:GYPE:NM_002102:exon2:c.G38A:p.G13E,GYPE:NM_198682:exon2:c.G38A:p.G13E,;ANNO=splicing:GYPE;ANNO=splicing:GYPE
4	144922436	.	T	G	100	PASS	AC=189;STUDIES=2;MAC=189;MAF=0.057;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=7;ANNO=nonsynonymous:GYPB:NM_002100:exon2:c.A38C:p.E13A,;ANNO=splicing:GYPB
4	145041741	.	T	G	100	PASS	AC=12132;STUDIES=17;MAC=1114;MAF=0.084;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:GYPA:NM_002099:exon2:c.A38C:p.E13A,;ANNO=splicing:GYPA
4	146030401	.	T	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABCE1:NM_002940:exon5:c.T405C:p.D135D,ABCE1:NM_001040876:exon5:c.T405C:p.D135D,;ANNO=splicing:ABCE1
4	146601588	.	A	G	100	PASS	AC=24;STUDIES=7;MAC=24;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C4orf51:NM_001080531:exon1:c.A233G:p.Q78R,;ANNO=splicing:C4orf51
4	146695659	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF827:NM_178835:exon11:c.A2859G:p.T953T,;ANNO=splicing:ZNF827
4	147858745	.	C	T	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTC29(NM_031956:c.176+1G>A)
4	148559898	.	C	T	100	PASS	AC=14;STUDIES=8;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PRMT10:NM_138364:exon12:c.G2323A:p.V775I,;ANNO=splicing:PRMT10
4	148968201	.	A	G	100	PASS	AC=23;STUDIES=10;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ARHGAP10:NM_024605:exon20:c.A2026G:p.I676V,;ANNO=splicing:ARHGAP10
4	149358014	.	G	C	100	PASS	AC=9111;STUDIES=17;MAC=9111;MAF=0.477;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=splicing:NR3C2
4	151177172	.	A	C	100	PASS	AC=20;STUDIES=9;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DCLK2:NM_001040260:exon16:c.A2074C:p.N692H,DCLK2:NM_001040261:exon17:c.A2125C:p.N709H,;ANNO=splicing:DCLK2
4	151199155	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRBA:NM_006726:exon57:c.C8351T:p.A2784V,LRBA:NM_001199282:exon57:c.C8351T:p.A2784V,;ANNO=splicing:LRBA
4	151357876	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRBA:NM_006726:exon46:c.A6954G:p.I2318M,LRBA:NM_001199282:exon46:c.A6954G:p.I2318M,;ANNO=splicing:LRBA
4	151511866	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LRBA:NM_006726:exon40:c.C6225T:p.A2075A,LRBA:NM_001199282:exon40:c.C6225T:p.A2075A,;ANNO=splicing:LRBA
4	151520160	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LRBA:NM_006726:exon38:c.T6045C:p.H2015H,LRBA:NM_001199282:exon38:c.T6045C:p.H2015H,;ANNO=splicing:LRBA
4	152065201	.	C	T	100	PASS	AC=37;STUDIES=5;MAC=37;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:SH3D19:NM_001009555:exon13:c.G1313A:p.R438H,SH3D19:NM_001128924:exon5:c.G1136A:p.R379H,SH3D19:NM_001128923:exon12:c.G1244A:p.R415H,;ANNO=splicing:SH3D19
4	152065202	.	G	A	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:SH3D19:NM_001009555:exon13:c.C1312T:p.R438C,SH3D19:NM_001128924:exon5:c.C1135T:p.R379C,SH3D19:NM_001128923:exon12:c.C1243T:p.R415C,;ANNO=splicing:SH3D19
4	152069075	.	A	G	100	PASS	AC=703;STUDIES=16;MAC=703;MAF=0.039;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SH3D19:NM_001009555:exon11:c.T1241C:p.M414T,SH3D19:NM_001128924:exon4:c.T1133C:p.M378T,SH3D19:NM_001128923:exon11:c.T1241C:p.M414T,;ANNO=splicing:SH3D19
4	152609915	.	T	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PET112:NM_004564:exon10:c.A1198G:p.N400D,;ANNO=splicing:PET112
4	152638226	.	C	A	100	PASS	AC=36;STUDIES=5;MAC=36;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PET112:NM_004564:exon4:c.G442T:p.A148S,;ANNO=splicing:PET112
4	153874712	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FHDC1:NM_033393:exon2:c.A560G:p.K187R,;ANNO=splicing:FHDC1
4	154315487	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MND1:NM_032117:exon5:c.C350T:p.T117M,;ANNO=splicing:MND1
4	154388363	.	C	T	100	PASS	AC=25;STUDIES=5;MAC=25;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA0922:NM_015196:exon2:c.C125T:p.A42V,KIAA0922:NM_001131007:exon2:c.C125T:p.A42V,;ANNO=splicing:KIAA0922
4	154502559	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA0922:NM_015196:exon9:c.G739C:p.G247R,KIAA0922:NM_001131007:exon9:c.G739C:p.G247R,;ANNO=splicing:KIAA0922
4	154505986	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA0922(NM_001131007:c.1060-1G>A)
4	154508962	.	A	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIAA0922:NM_015196:exon15:c.A1548T:p.A516A,KIAA0922:NM_001131007:exon15:c.A1551T:p.A517A,;ANNO=splicing:KIAA0922
4	154513627	.	A	G	100	PASS	AC=7023;STUDIES=22;MAC=7023;MAF=0.290;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA0922:NM_015196:exon18:c.A1810G:p.I604V,KIAA0922:NM_001131007:exon18:c.A1813G:p.I605V,;ANNO=splicing:KIAA0922
4	154633729	.	C	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;SNP_ON_RIGHT;ANNO=splicing:RNF175(NM_173662:c.764-1G>C)
4	154649359	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RNF175:NM_173662:exon4:c.G401A:p.R134Q,;ANNO=splicing:RNF175
4	154649360	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:RNF175:NM_173662:exon4:c.C400T:p.R134X,;ANNO=splicing:RNF175
4	155249343	.	A	C	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DCHS2:NM_001142552:exon7:c.T3920G:p.V1307G,DCHS2:NM_017639:exon12:c.T2555G:p.V852G,;ANNO=splicing:DCHS2
4	155407595	.	C	A	100	PASS	AC=168;STUDIES=7;MAC=168;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stoploss:DCHS2:NM_001142553:exon2:c.G2130T:p.X710Y,;ANNO=splicing:DCHS2
4	155511897	.	T	C	100	PASS	AC=1092;STUDIES=3;MAC=982;MAF=0.473;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:FGA
4	155533353	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FGG:NM_021870:exon3:c.G124A:p.G42S,FGG:NM_000509:exon3:c.G124A:p.G42S,;ANNO=splicing:FGG
4	156698677	.	T	A	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GUCY1B3:NM_000857:exon4:c.T180A:p.N60K,;ANNO=splicing:GUCY1B3
4	156721226	.	C	T	100	PASS	AC=25;STUDIES=6;MAC=25;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GUCY1B3:NM_000857:exon9:c.C1175T:p.T392I,;ANNO=splicing:GUCY1B3
4	156752977	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ACCN5:NM_017419:exon9:c.T1326C:p.L442L,;ANNO=splicing:ACCN5
4	156787340	.	G	A	100	PASS	AC=20203;STUDIES=21;MAC=2463;MAF=0.109;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:ACCN5:NM_017419:exon1:c.C39T:p.N13N,;ANNO=splicing:ACCN5
4	156847222	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CTSO:NM_001334:exon8:c.G932A:p.G311D,;ANNO=splicing:CTSO
4	156863469	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CTSO:NM_001334:exon3:c.G384A:p.M128I,;ANNO=splicing:CTSO
4	156863470	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CTSO:NM_001334:exon3:c.T383C:p.M128T,;ANNO=splicing:CTSO
4	157999297	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:GLRB:NM_001166060:exon2:c.T121C:p.S41P,GLRB:NM_001166061:exon2:c.T121C:p.S41P,GLRB:NM_000824:exon2:c.T121C:p.S41P,;ANNO=splicing:GLRB
4	158142820	.	G	T	100	PASS	AC=266;STUDIES=21;MAC=266;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GRIA2:NM_000826:exon2:c.G90T:p.G30G,GRIA2:NM_001083619:exon2:c.G90T:p.G30G,;ANNO=splicing:GRIA2
4	158224705	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GRIA2:NM_001083620:exon3:c.C90T:p.F30F,GRIA2:NM_000826:exon3:c.C231T:p.F77F,GRIA2:NM_001083619:exon3:c.C231T:p.F77F,;ANNO=splicing:GRIA2
4	159158677	.	G	A	100	PASS	AC=2626;STUDIES=22;MAC=2626;MAF=0.108;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TMEM144:NM_018342:exon9:c.G564A:p.V188V,;ANNO=splicing:TMEM144
4	159162759	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM144(NM_018342:c.900+1G>A)
4	159533354	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RXFP1(NM_021634:c.608+1G>C)
4	159616797	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ETFDH(NM_004453:c.831+2T>C)
4	159772474	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FNIP2:NM_020840:exon8:c.C729T:p.A243A,;ANNO=splicing:FNIP2
4	159782494	.	A	G	100	PASS	AC=63;STUDIES=7;MAC=63;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FNIP2:NM_020840:exon11:c.A1149G:p.R383R,;ANNO=splicing:FNIP2
4	160264556	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RAPGEF2:NM_014247:exon16:c.G2771A:p.R924Q,;ANNO=splicing:RAPGEF2
4	162680682	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FSTL5:NM_020116:exon6:c.T608C:p.V203A,FSTL5:NM_001128427:exon6:c.T605C:p.V202A,FSTL5:NM_001128428:exon6:c.T605C:p.V202A,;ANNO=splicing:FSTL5
4	164436465	.	G	T	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C4orf43:NM_018352:exon5:c.G240T:p.R80S,;ANNO=splicing:C4orf43
4	165898682	.	C	T	100	PASS	AC=54;STUDIES=2;MAC=54;MAF=0.032;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRIM61
4	166929095	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TLL1:NM_001204760:exon7:c.G812A:p.G271D,TLL1:NM_012464:exon7:c.G812A:p.G271D,;ANNO=splicing:TLL1
4	167012281	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:TLL1:NM_012464:exon19:c.C2444A:p.A815D,;ANNO=nonsynonymous:TLL1:NM_012464:exon19:c.C2444T:p.A815V,;ANNO=splicing:TLL1;ANNO=splicing:TLL1
4	169060730	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ANXA10:NM_007193:exon3:c.G194A:p.R65Q,;ANNO=splicing:ANXA10
4	169099040	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANXA10(NM_007193:c.534-1G>A)
4	169143032	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:DDX60:NM_017631:exon36:c.G4825T:p.V1609F,;ANNO=splicing:DDX60
4	169299627	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DDX60L(NM_001012967:c.4363-1G>A)
4	169336668	.	A	G	100	PASS	AC=138;STUDIES=10;MAC=138;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DDX60L:NM_001012967:exon22:c.T2870C:p.V957A,;ANNO=splicing:DDX60L
4	169343061	.	C	T	100	PASS	AC=37;STUDIES=6;MAC=37;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DDX60L(NM_001012967:c.2244-1G>A)
4	169382849	.	C	A	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DDX60L(NM_001012967:c.606+1G>T)
4	169589341	.	A	T	100	PASS	AC=36;STUDIES=14;MAC=36;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PALLD:NM_016081:exon3:c.A909T:p.R303S,PALLD:NM_001166108:exon3:c.A909T:p.R303S,;ANNO=splicing:PALLD
4	169837047	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PALLD:NM_016081:exon16:c.C2668G:p.P890A,PALLD:NM_001166108:exon17:c.C2719G:p.P907A,PALLD:NM_001166110:exon8:c.C1207G:p.P403A,PALLD:NM_001166109:exon15:c.C1522G:p.P508A,;ANNO=splicing:PALLD
4	170038932	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SH3RF1:NM_020870:exon9:c.G1519A:p.A507T,;ANNO=splicing:SH3RF1
4	170359412	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NEK1(NM_001199400:c.2371-2A>G,NM_001199399:c.2296-2A>G,NM_001199398:c.2455-2A>G,NM_001199397:c.2587-2A>G,NM_012224:c.2503-2A>G)
4	170483347	.	C	T	100	PASS	AC=36;STUDIES=11;MAC=36;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NEK1:NM_001199400:exon12:c.G1021A:p.A341T,NEK1:NM_001199399:exon13:c.G1021A:p.A341T,NEK1:NM_012224:exon12:c.G1021A:p.A341T,NEK1:NM_001199397:exon13:c.G1021A:p.A341T,NEK1:NM_001199398:exon13:c.G1021A:p.A341T,;ANNO=splicing:NEK1
4	175184250	.	G	A	100	PASS	AC=186;STUDIES=6;MAC=186;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:FBXO8
4	175220223	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEP44
4	175231002	.	A	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CEP44:NM_001040157:exon8:c.A680T:p.D227V,CEP44:NM_001145314:exon8:c.A680T:p.D227V,;ANNO=splicing:CEP44
4	175416699	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HPGD:NM_001145816:exon5:c.G498A:p.A166A,HPGD:NM_000860:exon5:c.G498A:p.A166A,;ANNO=splicing:HPGD
4	175710093	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GLRA3:NM_001042543:exon2:c.T73A:p.L25M,GLRA3:NM_006529:exon2:c.T73A:p.L25M,;ANNO=splicing:GLRA3
4	177069285	.	A	G	100	PASS	AC=35;STUDIES=14;MAC=35;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDR17:NM_181265:exon13:c.A1696G:p.T566A,WDR17:NM_170710:exon14:c.A1768G:p.T590A,;ANNO=splicing:WDR17
4	177109269	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPATA4(NM_144644:c.805+1G>A)
4	177109270	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPATA4:NM_144644:exon5:c.C805T:p.P269S,;ANNO=splicing:SPATA4
4	177113779	.	T	C	100	PASS	AC=7378;STUDIES=21;MAC=7378;MAF=0.313;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:SPATA4:NM_144644:exon4:c.A687G:p.P229P,;ANNO=splicing:SPATA4
4	178262796	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NEIL3:NM_018248:exon6:c.G869A:p.C290Y,;ANNO=splicing:NEIL3
4	178357453	.	A	G	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AGA:NM_001171988:exon6:c.T675C:p.N225N,AGA:NM_000027:exon6:c.T675C:p.N225N,;ANNO=splicing:AGA
4	183836077	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DCTD:NM_001921:exon3:c.C243T:p.Y81Y,DCTD:NM_001012732:exon3:c.C276T:p.Y92Y,;ANNO=splicing:DCTD
4	184205542	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WWC2:NM_024949:exon19:c.G3047A:p.R1016K,;ANNO=splicing:WWC2
4	184560790	.	G	A	100	PASS	AC=403;STUDIES=2;MAC=403;MAF=0.205;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:RWDD4
4	184615071	.	A	C	100	PASS	AC=48;STUDIES=13;MAC=48;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C4orf41:NM_199053:exon22:c.A2388C:p.G796G,C4orf41:NM_021942:exon22:c.A2388C:p.G796G,;ANNO=splicing:C4orf41
4	184615191	.	G	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C4orf41:NM_199053:exon22:c.G2508A:p.Q836Q,C4orf41:NM_021942:exon22:c.G2508A:p.Q836Q,;ANNO=splicing:C4orf41
4	184932575	.	C	T	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STOX2:NM_020225:exon3:c.C2584T:p.R862C,;ANNO=splicing:STOX2
4	185612736	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC111(NM_152683:c.1378+1G>C)
4	185612821	.	T	C	100	PASS	AC=34;STUDIES=5;MAC=34;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CCDC111:NM_152683:exon13:c.T1380C:p.C460C,;ANNO=splicing:CCDC111
4	185618801	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MLF1IP:NM_024629:exon12:c.G1143A:p.T381T,;ANNO=splicing:MLF1IP
4	185655170	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:MLF1IP:NM_024629:exon1:c.G47A:p.G16D,;ANNO=splicing:MLF1IP
4	185655171	.	C	T	100	PASS	AC=4433;STUDIES=19;MAC=4433;MAF=0.233;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:MLF1IP:NM_024629:exon1:c.G46A:p.G16S,;ANNO=splicing:MLF1IP
4	185678418	.	A	C	100	PASS	AC=19;STUDIES=3;MAC=19;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACSL1:NM_001995:exon21:c.T1958G:p.V653G,;ANNO=splicing:ACSL1
4	185683561	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ACSL1:NM_001995:exon17:c.A1638T:p.P546P,;ANNO=splicing:ACSL1
4	185689471	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACSL1:NM_001995:exon12:c.G1127A:p.R376Q,;ANNO=splicing:ACSL1
4	185724475	.	G	A	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ACSL1:NM_001995:exon2:c.C194T:p.A65V,;ANNO=splicing:ACSL1
4	186096938	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA1430(NM_020827:c.1320+2T>C)
4	186185593	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SNX25:NM_031953:exon4:c.C241T:p.H81Y,;ANNO=splicing:SNX25
4	186353135	.	G	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C4orf47(NM_001114357:c.100-1G>T)
4	186381392	.	G	C	100	PASS	AC=23;STUDIES=4;MAC=23;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC110:NM_152775:exon6:c.C349G:p.P117A,CCDC110:NM_001145411:exon5:c.C238G:p.P80A,;ANNO=splicing:CCDC110
4	186384203	.	T	G	100	PASS	AC=20;STUDIES=5;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC110:NM_152775:exon3:c.A116C:p.E39A,CCDC110:NM_001145411:exon3:c.A116C:p.E39A,;ANNO=splicing:CCDC110
4	186423637	.	G	A	100	PASS	AC=17701;STUDIES=21;MAC=5319;MAF=0.231;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:PDLIM3:NM_001114107:exon7:c.C762T:p.V254V,PDLIM3:NM_014476:exon8:c.C906T:p.V302V,;ANNO=splicing:PDLIM3
4	186444600	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PDLIM3:NM_001114107:exon3:c.G246A:p.R82R,PDLIM3:NM_014476:exon3:c.G246A:p.R82R,;ANNO=splicing:PDLIM3
4	186567935	.	G	T	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SORBS2:NM_001145672:exon10:c.C778A:p.H260N,SORBS2:NM_001145671:exon11:c.C829A:p.H277N,SORBS2:NM_003603:exon11:c.C709A:p.H237N,SORBS2:NM_001145670:exon11:c.C784A:p.H262N,SORBS2:NM_001145675:exon5:c.C328A:p.H110N,SORBS2:NM_001145673:exon11:c.C1108A:p.H370N,SORBS2:NM_021069:exon10:c.C571A:p.H191N,SORBS2:NM_001145674:exon4:c.C283A:p.H95N,;ANNO=splicing:SORBS2
4	186572981	.	A	G	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SORBS2:NM_001145672:exon8:c.T543C:p.D181D,SORBS2:NM_001145671:exon9:c.T594C:p.D198D,SORBS2:NM_003603:exon9:c.T474C:p.D158D,SORBS2:NM_001145675:exon3:c.T93C:p.D31D,SORBS2:NM_001145673:exon9:c.T873C:p.D291D,SORBS2:NM_021069:exon8:c.T336C:p.D112D,;ANNO=splicing:SORBS2
4	186573817	.	C	T	100	PASS	AC=210;STUDIES=8;MAC=210;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SORBS2:NM_001145672:exon7:c.G540A:p.P180P,SORBS2:NM_001145671:exon8:c.G591A:p.P197P,SORBS2:NM_003603:exon8:c.G471A:p.P157P,SORBS2:NM_001145670:exon9:c.G591A:p.P197P,SORBS2:NM_001145675:exon2:c.G90A:p.P30P,SORBS2:NM_001145673:exon8:c.G870A:p.P290P,SORBS2:NM_021069:exon7:c.G333A:p.P111P,SORBS2:NM_001145674:exon2:c.G90A:p.P30P,;ANNO=splicing:SORBS2
4	186997767	.	C	A	100	PASS	AC=1868;STUDIES=11;MAC=1868;MAF=0.184;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:TLR3
4	187530337	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FAT1:NM_005245:exon16:c.G10206A:p.T3402T,;ANNO=splicing:FAT1
4	187530338	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAT1:NM_005245:exon16:c.C10205T:p.T3402M,;ANNO=splicing:FAT1
4	187630998	.	A	G	100	PASS	AC=27;STUDIES=2;MAC=27;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:FAT1
4	189026085	.	T	C	100	PASS	AC=119;STUDIES=9;MAC=119;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRIML2:NM_173553:exon2:c.A41G:p.K14R,;ANNO=splicing:TRIML2
5	144943	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLEKHG4B:NM_052909:exon4:c.A745G:p.K249E,;ANNO=splicing:PLEKHG4B
5	156325	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLEKHG4B:NM_052909:exon8:c.G1280A:p.R427Q,;ANNO=splicing:PLEKHG4B
5	162058	.	C	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLEKHG4B:NM_052909:exon10:c.C1580A:p.T527K,;ANNO=splicing:PLEKHG4B
5	218356	.	T	C	100	PASS	AC=185;STUDIES=3;MAC=185;MAF=0.090;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:SDHA
5	314533	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PDCD6:NM_013232:exon6:c.G479A:p.R160K,;ANNO=splicing:PDCD6
5	482183	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=synonymous:SLC9A3:NM_004174:exon8:c.C1446T:p.R482R,;ANNO=splicing:SLC9A3
5	484636	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC9A3:NM_004174:exon5:c.G931A:p.A311T,;ANNO=splicing:SLC9A3
5	488590	.	G	A	100	PASS	AC=44;STUDIES=6;MAC=44;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC9A3:NM_004174:exon3:c.C516T:p.G172G,;ANNO=splicing:SLC9A3
5	624587	.	C	T	100	PASS	AC=73;STUDIES=18;MAC=73;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CEP72:NM_018140:exon4:c.C405T:p.D135D,;ANNO=splicing:CEP72
5	644415	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CEP72:NM_018140:exon10:c.A1541T:p.D514V,;ANNO=splicing:CEP72
5	814875	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:ZDHHC11(NM_024786:c.1181+1G>A)
5	825280	.	C	T	100	PASS	AC=4811;STUDIES=22;MAC=4811;MAF=0.199;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:ZDHHC11:NM_024786:exon8:c.G1022A:p.R341Q,;ANNO=splicing:ZDHHC11
5	1065399	.	C	T	100	PASS	AC=12521;STUDIES=22;MAC=11409;MAF=0.477;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC12A7:NM_006598:exon18:c.G2436A:p.V812V,;ANNO=splicing:SLC12A7
5	1217062	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:SLC6A19(NM_001003841:c.1173+2T>C);ANNO=splicing:SLC6A19(NM_001003841:c.1173+2T>G)
5	1217062	.	T	G	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:SLC6A19(NM_001003841:c.1173+2T>C);ANNO=splicing:SLC6A19(NM_001003841:c.1173+2T>G)
5	1221428	.	C	T	100	PASS	AC=160;STUDIES=11;MAC=160;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC6A19:NM_001003841:exon11:c.C1701T:p.Y567Y,;ANNO=splicing:SLC6A19
5	1238175	.	C	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC6A18:NM_182632:exon5:c.C732T:p.N244N,;ANNO=splicing:SLC6A18
5	1242820	.	A	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC6A18(NM_182632:c.974-2A>T)
5	1243873	.	T	C	100	PASS	AC=151;STUDIES=15;MAC=151;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC6A18:NM_182632:exon9:c.T1335C:p.T445T,;ANNO=splicing:SLC6A18
5	1244330	.	G	A	100	PASS	AC=24;STUDIES=3;MAC=24;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC6A18:NM_182632:exon10:c.G1338A:p.G446G,;ANNO=splicing:SLC6A18
5	1254619	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TERT:NM_198253:exon15:c.G3159A:p.G1053G,TERT:NM_001193376:exon14:c.G2970A:p.G990G,;ANNO=splicing:TERT
5	1322993	.	G	A	100	PASS	AC=49;STUDIES=7;MAC=49;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CLPTM1L:NM_030782:exon13:c.C1314T:p.N438N,;ANNO=splicing:CLPTM1L
5	1409836	.	G	A	100	PASS	AC=48;STUDIES=9;MAC=48;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC6A3:NM_001044:exon10:c.C1398T:p.N466N,;ANNO=splicing:SLC6A3
5	1414807	.	G	A	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC6A3:NM_001044:exon8:c.C1155T:p.D385D,;ANNO=splicing:SLC6A3
5	1443028	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC6A3:NM_001044:exon2:c.C285T:p.G95G,;ANNO=splicing:SLC6A3
5	1467004	.	A	G	100	PASS	AC=4886;STUDIES=21;MAC=4886;MAF=0.218;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:LPCAT1:NM_024830:exon13:c.T1280C:p.M427T,;ANNO=splicing:LPCAT1
5	1470941	.	C	T	100	PASS	AC=60;STUDIES=11;MAC=60;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LPCAT1:NM_024830:exon12:c.G1278A:p.K426K,;ANNO=splicing:LPCAT1
5	1470942	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LPCAT1:NM_024830:exon12:c.A1277G:p.K426R,;ANNO=splicing:LPCAT1
5	1479789	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LPCAT1:NM_024830:exon8:c.C763A:p.L255M,;ANNO=splicing:LPCAT1
5	1483600	.	A	C	100	PASS	AC=26;STUDIES=2;MAC=26;MAF=0.057;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LPCAT1:NM_024830:exon6:c.T669G:p.G223G,;ANNO=splicing:LPCAT1
5	5242303	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ADAMTS16:NM_139056:exon17:c.G2661A:p.G887G,;ANNO=splicing:ADAMTS16
5	6602574	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NSUN2:NM_017755:exon18:c.C1997T:p.A666V,NSUN2:NM_001193455:exon17:c.C1892T:p.A631V,;ANNO=splicing:NSUN2
5	6743825	.	A	G	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PAPD7:NM_001171805:exon6:c.A367G:p.K123E,PAPD7:NM_006999:exon6:c.A367G:p.K123E,;ANNO=splicing:PAPD7
5	6748578	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PAPD7:NM_001171805:exon8:c.G711C:p.G237G,PAPD7:NM_001171806:exon2:c.G171C:p.G57G,PAPD7:NM_006999:exon8:c.G711C:p.G237G,;ANNO=splicing:PAPD7
5	7784478	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ADCY2:NM_020546:exon19:c.A2385G:p.R795R,;ANNO=splicing:ADCY2
5	7861694	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FASTKD3(NM_024091:c.1769+2T>C)
5	7869328	.	G	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:MTRR
5	7889387	.	C	T	100	PASS	AC=55;STUDIES=14;MAC=55;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MTRR:NM_002454:exon9:c.C1326T:p.L442L,MTRR:NM_024010:exon9:c.C1407T:p.L469L,;ANNO=splicing:MTRR
5	9052140	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SEMA5A:NM_003966:exon20:c.A2690G:p.E897G,;ANNO=splicing:SEMA5A
5	9136617	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SEMA5A:NM_003966:exon13:c.C1598T:p.P533L,;ANNO=splicing:SEMA5A
5	9226981	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SEMA5A:NM_003966:exon7:c.G432A:p.S144S,;ANNO=splicing:SEMA5A
5	9226982	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SEMA5A:NM_003966:exon7:c.C431T:p.S144L,;ANNO=splicing:SEMA5A
5	10282309	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CMBL:NM_138809:exon5:c.C558T:p.D186D,;ANNO=splicing:CMBL
5	10290660	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CMBL:NM_138809:exon2:c.C215T:p.T72I,;ANNO=splicing:CMBL
5	10450062	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ROPN1L(NM_001201466:c.255-2A>G,NM_031916:c.255-2A>G)
5	10464960	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ROPN1L:NM_001201466:exon6:c.A594C:p.I198I,ROPN1L:NM_031916:exon5:c.A594C:p.I198I,;ANNO=splicing:ROPN1L
5	10683642	.	C	T	100	PASS	AC=44;STUDIES=16;MAC=44;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DAP:NM_004394:exon3:c.G194A:p.R65Q,;ANNO=splicing:DAP
5	13866329	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DNAH5:NM_001369:exon26:c.G4116C:p.Q1372H,;ANNO=splicing:DNAH5
5	13876926	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DNAH5:NM_001369:exon22:c.A3263G:p.D1088G,;ANNO=splicing:DNAH5
5	13914751	.	C	T	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAH5:NM_001369:exon10:c.G1198A:p.V400M,;ANNO=splicing:DNAH5
5	13944491	.	C	A	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DNAH5:NM_001369:exon1:c.G57T:p.T19T,;ANNO=splicing:DNAH5
5	14391099	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TRIO:NM_007118:exon27:c.C4218T:p.D1406D,;ANNO=splicing:TRIO
5	14481727	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TRIO:NM_007118:exon45:c.C6465T:p.D2155D,;ANNO=splicing:TRIO
5	14487574	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TRIO:NM_007118:exon48:c.C6837T:p.A2279A,;ANNO=splicing:TRIO
5	14497982	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TRIO:NM_007118:exon51:c.C8046T:p.D2682D,;ANNO=splicing:TRIO
5	16572211	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM134B:NM_001034850:exon2:c.G321T:p.W107C,;ANNO=splicing:FAM134B
5	16685847	.	C	T	100	PASS	AC=38;STUDIES=3;MAC=38;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYO10:NM_012334:exon29:c.G3990A:p.V1330V,;ANNO=splicing:MYO10
5	19483411	.	C	T	100	PASS	AC=48;STUDIES=6;MAC=48;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CDH18:NM_004934:exon12:c.G1881A:p.L627L,;ANNO=splicing:CDH18
5	19503217	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CDH18:NM_004934:exon11:c.T1514C:p.V505A,CDH18:NM_001167667:exon11:c.T1514C:p.V505A,;ANNO=splicing:CDH18
5	21842436	.	A	G	100	PASS	AC=1273;STUDIES=21;MAC=1273;MAF=0.057;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:CDH12:NM_004061:exon8:c.T648C:p.G216G,;ANNO=splicing:CDH12
5	23509703	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRDM9(NM_020227:c.193+1G>C)
5	23510136	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PRDM9:NM_020227:exon4:c.G301A:p.V101I,;ANNO=splicing:PRDM9
5	31294069	.	T	C	100	PASS	AC=454;STUDIES=21;MAC=454;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CDH6:NM_004932:exon3:c.T229C:p.L77L,;ANNO=splicing:CDH6
5	31297396	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CDH6:NM_004932:exon4:c.G524A:p.G175D,;ANNO=splicing:CDH6
5	31435971	.	G	A	100	PASS	AC=21;STUDIES=8;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DROSHA:NM_013235:exon24:c.C2943T:p.S981S,DROSHA:NM_001100412:exon24:c.C2832T:p.S944S,;ANNO=splicing:DROSHA
5	31495479	.	C	A	100	PASS	AC=32;STUDIES=11;MAC=32;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DROSHA:NM_013235:exon11:c.G1669T:p.A557S,DROSHA:NM_001100412:exon11:c.G1558T:p.A520S,;ANNO=splicing:DROSHA
5	31983762	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PDZD2:NM_178140:exon2:c.G978A:p.R326R,;ANNO=splicing:PDZD2
5	32037337	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDZD2:NM_178140:exon6:c.A1408G:p.M470V,;ANNO=splicing:PDZD2
5	32072422	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PDZD2:NM_178140:exon16:c.C2724T:p.S908S,;ANNO=splicing:PDZD2
5	32097485	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDZD2:NM_178140:exon21:c.C7946T:p.T2649M,;ANNO=splicing:PDZD2
5	32108076	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PDZD2:NM_178140:exon24:c.T8355C:p.G2785G,;ANNO=splicing:PDZD2
5	33441248	.	C	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TARS:NM_152295:exon1:c.C56G:p.P19R,;ANNO=splicing:TARS
5	33463929	.	A	G	100	PASS	AC=34;STUDIES=13;MAC=34;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TARS:NM_152295:exon17:c.A1907G:p.K636R,;ANNO=splicing:TARS
5	33588914	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ADAMTS12:NM_030955:exon18:c.G2655A:p.R885R,;ANNO=splicing:ADAMTS12
5	33641916	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAMTS12:NM_030955:exon11:c.G1717A:p.E573K,;ANNO=splicing:ADAMTS12
5	33998931	.	A	G	100	PASS	AC=15;STUDIES=10;MAC=15;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AMACR:NM_014324:exon4:c.T554C:p.V185A,AMACR:NM_001167595:exon4:c.T554C:p.V185A,;ANNO=splicing:AMACR
5	34826584	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RAI14:NM_001145522:exon15:c.G2712A:p.A904A,RAI14:NM_001145521:exon17:c.G2799A:p.A933A,RAI14:NM_015577:exon16:c.G2799A:p.A933A,RAI14:NM_001145520:exon16:c.G2799A:p.A933A,RAI14:NM_001145523:exon15:c.G2775A:p.A925A,RAI14:NM_001145525:exon18:c.G2808A:p.A936A,;ANNO=splicing:RAI14
5	34922872	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BRIX1:NM_018321:exon6:c.C509G:p.P170R,;ANNO=splicing:BRIX1
5	34945907	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DNAJC21:NM_194283:exon9:c.A1184G:p.Q395R,DNAJC21:NM_001012339:exon9:c.A1184G:p.Q395R,;ANNO=splicing:DNAJC21
5	35010254	.	C	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AGXT2:NM_031900:exon12:c.G1189T:p.V397L,;ANNO=splicing:AGXT2
5	35013058	.	C	T	100	PASS	AC=179;STUDIES=13;MAC=179;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AGXT2(NM_031900:c.1188+1G>A)
5	35047909	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AGXT2(NM_031900:c.88+1G>A)
5	35070226	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRLR:NM_001204316:exon6:c.G685A:p.D229N,PRLR:NM_001204318:exon6:c.G685A:p.G229S,PRLR:NM_001204315:exon6:c.G685A:p.D229N,PRLR:NM_001204317:exon6:c.G685A:p.D229N,PRLR:NM_001204314:exon4:c.G382A:p.D128N,PRLR:NM_000949:exon7:c.G685A:p.D229N,;ANNO=splicing:PRLR
5	35089765	.	A	C	100	PASS	AC=37;STUDIES=2;MAC=37;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:PRLR
5	35700598	.	T	C	100	PASS	AC=9578;STUDIES=19;MAC=7970;MAF=0.454;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=3;ANNO=synonymous:SPEF2:NM_024867:exon16:c.T2142C:p.N714N,;ANNO=splicing:SPEF2
5	35759821	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPEF2:NM_024867:exon25:c.G3620A:p.R1207K,;ANNO=splicing:SPEF2
5	35779447	.	A	C	100	PASS	AC=556;STUDIES=15;MAC=556;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPEF2:NM_024867:exon30:c.A4446C:p.K1482N,;ANNO=splicing:SPEF2
5	35814566	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPEF2:NM_024867:exon37:c.G5380C:p.D1794H,;ANNO=splicing:SPEF2
5	35874551	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IL7R:NM_002185:exon6:c.G707A:p.G236E,;ANNO=splicing:IL7R
5	35955968	.	T	G	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UGT3A1(NM_152404:c.1075-2A>C)
5	35968122	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UGT3A1:NM_152404:exon3:c.A310G:p.R104G,UGT3A1:NM_001171873:exon4:c.A148G:p.R50G,;ANNO=splicing:UGT3A1
5	37122533	.	T	C	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C5orf42:NM_023073:exon47:c.A8854G:p.R2952G,;ANNO=splicing:C5orf42
5	37125346	.	T	C	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C5orf42:NM_023073:exon46:c.A8796G:p.P2932P,;ANNO=splicing:C5orf42
5	37142583	.	C	G	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C5orf42(NM_023073:c.8299-1G>C)
5	37182862	.	C	T	100	PASS	AC=119;STUDIES=18;MAC=119;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C5orf42:NM_023073:exon26:c.G5421A:p.K1807K,;ANNO=splicing:C5orf42
5	37292140	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NUP155:NM_153485:exon35:c.G4038A:p.R1346R,NUP155:NM_004298:exon35:c.G3861A:p.R1287R,;ANNO=splicing:NUP155
5	37605340	.	T	C	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:WDR70:NM_018034:exon10:c.T1092C:p.T364T,;ANNO=splicing:WDR70
5	38409107	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EGFLAM:NM_001205301:exon10:c.C1250T:p.A417V,EGFLAM:NM_182798:exon5:c.C548T:p.A183V,EGFLAM:NM_152403:exon10:c.C1250T:p.A417V,;ANNO=splicing:EGFLAM
5	38451559	.	A	G	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EGFLAM:NM_001205301:exon20:c.A2710G:p.S904G,EGFLAM:NM_182798:exon14:c.A1984G:p.S662G,EGFLAM:NM_152403:exon19:c.A2686G:p.S896G,EGFLAM:NM_182801:exon3:c.A115G:p.S39G,;ANNO=splicing:EGFLAM
5	38463011	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EGFLAM:NM_001205301:exon22:c.G2797T:p.D933Y,EGFLAM:NM_182798:exon16:c.G2071T:p.D691Y,EGFLAM:NM_152403:exon21:c.G2773T:p.D925Y,EGFLAM:NM_182801:exon5:c.G202T:p.D68Y,;ANNO=splicing:EGFLAM
5	38527396	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LIFR:NM_001127671:exon4:c.G258T:p.R86S,LIFR:NM_002310:exon4:c.G258T:p.R86S,;ANNO=splicing:LIFR
5	38924525	.	T	C	100	PASS	AC=85;STUDIES=16;MAC=85;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:OSMR:NM_003999:exon14:c.T1872C:p.A624A,;ANNO=splicing:OSMR
5	38952527	.	C	T	100	PASS	AC=33;STUDIES=9;MAC=33;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RICTOR:NM_152756:exon30:c.G2898A:p.G966G,;ANNO=splicing:RICTOR
5	39127844	.	C	A	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FYB:NM_199335:exon11:c.G1906T:p.G636C,FYB:NM_001465:exon11:c.G1906T:p.G636C,;ANNO=splicing:FYB
5	39308330	.	A	G	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9(NM_001737:c.1240+2T>C)
5	39308332	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C9:NM_001737:exon8:c.G1240T:p.V414L,;ANNO=splicing:C9
5	39341801	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C9:NM_001737:exon3:c.T185C:p.F62S,;ANNO=splicing:C9
5	39388901	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DAB2:NM_001343:exon8:c.G624A:p.S208S,;ANNO=splicing:DAB2
5	40980013	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C7(NM_000587:c.2350+2T>C)
5	40998261	.	C	T	100	PASS	AC=23;STUDIES=8;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HEATR7B2(NM_173489:c.4651-1G>A)
5	40998713	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HEATR7B2(NM_173489:c.4651+1G>A)
5	40998779	.	T	C	100	PASS	AC=645;STUDIES=19;MAC=645;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HEATR7B2:NM_173489:exon41:c.A4586G:p.D1529G,;ANNO=splicing:HEATR7B2
5	41049242	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HEATR7B2:NM_173489:exon15:c.G1503A:p.V501V,;ANNO=splicing:HEATR7B2
5	41150035	.	A	G	100	PASS	AC=52;STUDIES=13;MAC=52;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C6(NM_001115131:c.2381+2T>C,NM_000065:c.2381+2T>C)
5	41155074	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C6:NM_000065:exon14:c.C2101T:p.R701W,C6:NM_001115131:exon14:c.C2101T:p.R701W,;ANNO=splicing:C6
5	41158777	.	C	T	100	PASS	AC=12;STUDIES=7;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C6:NM_000065:exon13:c.G1967A:p.R656Q,C6:NM_001115131:exon13:c.G1967A:p.R656Q,;ANNO=splicing:C6
5	41172449	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C6:NM_000065:exon9:c.G1169A:p.G390D,C6:NM_001115131:exon9:c.G1169A:p.G390D,;ANNO=splicing:C6
5	41203190	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C6:NM_000065:exon2:c.G143A:p.R48K,C6:NM_001115131:exon2:c.G143A:p.R48K,;ANNO=splicing:C6
5	41801122	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:OXCT1(NM_000436:c.1099+2T>C)
5	41805782	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OXCT1:NM_000436:exon9:c.G842A:p.R281H,;ANNO=splicing:OXCT1
5	41934233	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FBXO4(NM_033484:c.722-2A>G,NM_012176:c.722-2A>G)
5	42565967	.	T	C	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GHR:NM_001242399:exon2:c.T12C:p.G4G,;ANNO=splicing:GHR
5	42810880	.	G	A	100	PASS	AC=38;STUDIES=2;MAC=38;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:SEPP1
5	43161351	.	G	A	100	PASS	AC=2115;STUDIES=21;MAC=2115;MAF=0.091;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF131:NM_003432:exon5:c.G372A:p.R124R,;ANNO=splicing:ZNF131
5	43294159	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HMGCS1:NM_002130:exon7:c.G1182A:p.P394P,HMGCS1:NM_001098272:exon8:c.G1182A:p.P394P,;ANNO=splicing:HMGCS1
5	43412355	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCL28:NM_148672:exon1:c.G64A:p.A22T,;ANNO=splicing:CCL28
5	49706712	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EMB:NM_198449:exon4:c.A471C:p.K157N,;ANNO=splicing:EMB
5	49706799	.	C	A	100	PASS	AC=18;STUDIES=4;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:EMB:NM_198449:exon4:c.G384T:p.R128S,;ANNO=splicing:EMB
5	49723979	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EMB:NM_198449:exon2:c.T195C:p.T65T,;ANNO=splicing:EMB
5	50130848	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PARP8:NM_001178055:exon26:c.G2461A:p.V821I,PARP8:NM_024615:exon25:c.G2461A:p.V821I,PARP8:NM_001178056:exon24:c.G2335A:p.V779I,;ANNO=splicing:PARP8
5	52193287	.	C	T	100	PASS	AC=12640;STUDIES=21;MAC=10996;MAF=0.465;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:ITGA1:NM_181501:exon10:c.C1092T:p.A364A,;ANNO=splicing:ITGA1
5	52368525	.	A	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITGA2:NM_002203:exon19:c.A2429G:p.Q810R,;ANNO=splicing:ITGA2
5	52899282	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NDUFS4:NM_002495:exon2:c.G99T:p.R33S,;ANNO=splicing:NDUFS4
5	54277826	.	C	T	100	PASS	AC=244;STUDIES=20;MAC=244;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ESM1:NM_007036:exon2:c.G450A:p.T150T,;ANNO=splicing:ESM1
5	54398580	.	G	T	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GZMA:NM_006144:exon1:c.G70T:p.D24Y,;ANNO=splicing:GZMA
5	54401302	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GZMA:NM_006144:exon2:c.A71T:p.D24V,;ANNO=splicing:GZMA
5	54439339	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDC20B(NM_152623:c.486+2T>C,NM_001145734:c.486+2T>C,NM_001170402:c.486+2T>C)
5	54439342	.	T	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CDC20B:NM_001170402:exon4:c.A485C:p.Q162P,CDC20B:NM_001145734:exon4:c.A485C:p.Q162P,CDC20B:NM_152623:exon4:c.A485C:p.Q162P,;ANNO=splicing:CDC20B
5	54830873	.	A	G	100	PASS	AC=1448;STUDIES=3;MAC=238;MAF=0.141;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:PPAP2A
5	54941617	.	A	G	100	PASS	AC=817;STUDIES=22;MAC=817;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC38A9:NM_173514:exon12:c.T1167C:p.N389N,;ANNO=splicing:SLC38A9
5	55147460	.	T	C	100	PASS	AC=23;STUDIES=5;MAC=23;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IL31RA:NM_139017:exon1:c.C62C:p.S21S,;ANNO=splicing:IL31RA
5	55264223	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IL6ST:NM_001190981:exon5:c.G372A:p.L124L,IL6ST:NM_002184:exon5:c.G372A:p.L124L,IL6ST:NM_175767:exon5:c.G372A:p.L124L,;ANNO=splicing:IL6ST
5	55439628	.	C	G	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ANKRD55:NM_024669:exon7:c.G612C:p.Q204H,;ANNO=splicing:ANKRD55
5	56219412	.	G	A	100	PASS	AC=15;STUDIES=7;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MIER3:NM_152622:exon13:c.C1193T:p.A398V,;ANNO=splicing:MIER3
5	56526795	.	A	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GPBP1:NM_022913:exon4:c.A186C:p.G62G,GPBP1:NM_001127235:exon4:c.A207C:p.G69G,GPBP1:NM_001127236:exon3:c.A207C:p.G69G,;ANNO=splicing:GPBP1
5	57751982	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLK2:NM_006622:exon10:c.G1255A:p.E419K,;ANNO=splicing:PLK2
5	59943225	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DEPDC1B:NM_018369:exon3:c.G450A:p.M150I,DEPDC1B:NM_001145208:exon3:c.G450A:p.M150I,;ANNO=splicing:DEPDC1B
5	60062401	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ELOVL7:NM_024930:exon6:c.G393A:p.T131T,ELOVL7:NM_001104558:exon5:c.G393A:p.T131T,;ANNO=splicing:ELOVL7
5	60198334	.	A	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ERCC8:NM_000082:exon7:c.T552A:p.G184G,;ANNO=splicing:ERCC8
5	60200619	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ERCC8:NM_000082:exon5:c.G481A:p.V161I,;ANNO=splicing:ERCC8
5	60217981	.	T	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ERCC8:NM_000082:exon3:c.A175T:p.M59L,;ANNO=splicing:ERCC8
5	61747557	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IPO11:NM_001134779:exon5:c.A433G:p.I145V,IPO11:NM_016338:exon5:c.A313G:p.I105V,;ANNO=splicing:IPO11
5	61747760	.	T	C	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IPO11:NM_001134779:exon5:c.T636C:p.D212D,IPO11:NM_016338:exon5:c.T516C:p.D172D,;ANNO=splicing:IPO11
5	61811328	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IPO11:NM_001134779:exon20:c.G2016C:p.Q672H,IPO11:NM_016338:exon20:c.G1896C:p.Q632H,;ANNO=splicing:IPO11
5	64747447	.	G	C	100	PASS	AC=29;STUDIES=3;MAC=29;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADAMTS6:NM_197941:exon7:c.C928G:p.P310A,;ANNO=splicing:ADAMTS6
5	64756164	.	T	C	100	PASS	AC=37;STUDIES=12;MAC=37;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADAMTS6:NM_197941:exon4:c.A464G:p.H155R,;ANNO=splicing:ADAMTS6
5	64865826	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PPWD1(NM_015342:c.521+1G>T)
5	65339026	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ERBB2IP:NM_018695:exon16:c.G1428A:p.R476R,ERBB2IP:NM_001006600:exon16:c.G1428A:p.R476R,;ANNO=splicing:ERBB2IP
5	66458615	.	T	G	100	PASS	AC=18;STUDIES=3;MAC=18;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MAST4:NM_015183:exon27:c.T3399G:p.S1133S,MAST4:NM_001164664:exon28:c.T3966G:p.S1322S,;ANNO=splicing:MAST4
5	68398889	.	G	T	100	PASS	AC=346;STUDIES=11;MAC=346;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC30A5:NM_022902:exon3:c.G207T:p.G69G,SLC30A5:NM_024055:exon3:c.G207T:p.G69G,;ANNO=splicing:SLC30A5
5	68490521	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CENPH:NM_022909:exon3:c.G238A:p.A80T,;ANNO=splicing:CENPH
5	68525036	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:MRPS36:NM_033281:exon4:c.G296A:p.R99H,;ANNO=splicing:MRPS36
5	68565119	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CDK7:NM_001799:exon9:c.C713T:p.P238L,;ANNO=splicing:CDK7
5	68565120	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CDK7:NM_001799:exon9:c.G714A:p.P238P,;ANNO=splicing:CDK7
5	68728353	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MARVELD2(NM_001038603:c.1182-1G>A)
5	68856052	.	G	A	100	PASS	AC=163;STUDIES=2;MAC=163;MAF=0.083;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:GTF2H2C
5	68875691	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:GTF2H2C:NM_001098728:exon11:c.G757A:p.G253R,GTF2H2D:NM_001042490:exon12:c.G757A:p.G253R,;ANNO=splicing:GTF2H2C,GTF2H2D
5	70805292	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:BDP1:NM_018429:exon17:c.C2373T:p.S791S,;ANNO=splicing:BDP1
5	71015790	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CARTPT:NM_004291:exon2:c.G243A:p.M81I,;ANNO=splicing:CARTPT
5	71521884	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MRPS27:NM_015084:exon9:c.G837A:p.A279A,;ANNO=splicing:MRPS27
5	72864061	.	C	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UTP15:NM_032175:exon3:c.C92A:p.T31N,;ANNO=splicing:UTP15
5	72980709	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RGNEF:NM_001177693:exon2:c.C33T:p.Y11Y,RGNEF:NM_001080479:exon2:c.C33T:p.Y11Y,;ANNO=splicing:RGNEF
5	73091156	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:RGNEF:NM_001177693:exon9:c.C964A:p.R322S,RGNEF:NM_001080479:exon9:c.C964A:p.R322S,;ANNO=nonsynonymous:RGNEF:NM_001177693:exon9:c.C964T:p.R322C,RGNEF:NM_001080479:exon9:c.C964T:p.R322C,;ANNO=splicing:RGNEF;ANNO=splicing:RGNEF
5	74014795	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HEXB:NM_000521:exon11:c.C1416T:p.G472G,;ANNO=splicing:HEXB
5	74016571	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HEXB:NM_000521:exon13:c.G1612A:p.E538K,;ANNO=splicing:HEXB
5	74021950	.	A	T	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GFM2:NM_032380:exon18:c.T1728A:p.D576E,GFM2:NM_170691:exon17:c.T1587A:p.D529E,;ANNO=splicing:GFM2
5	74137371	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM169A:NM_015566:exon2:c.C131T:p.T44M,;ANNO=splicing:FAM169A
5	74970024	.	T	C	100	PASS	AC=522;STUDIES=2;MAC=522;MAF=0.267;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:POC5
5	75008679	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:POC5:NM_001099271:exon2:c.G84A:p.Q28Q,;ANNO=splicing:POC5
5	75886234	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:IQGAP2:NM_006633:exon8:c.A642G:p.L214L,;ANNO=splicing:IQGAP2
5	75964507	.	C	T	100	PASS	AC=507;STUDIES=21;MAC=507;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IQGAP2:NM_006633:exon23:c.C2681T:p.T894I,;ANNO=splicing:IQGAP2
5	75969414	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IQGAP2:NM_006633:exon25:c.C3209T:p.P1070L,;ANNO=splicing:IQGAP2
5	75973043	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IQGAP2:NM_006633:exon28:c.G3528A:p.R1176R,;ANNO=splicing:IQGAP2
5	76171327	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:S100Z(NM_130772:c.141+2T>C)
5	76715592	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PDE8B:NM_003719:exon19:c.G2130A:p.R710R,PDE8B:NM_001029851:exon16:c.G1839A:p.R613R,PDE8B:NM_001029853:exon18:c.G2070A:p.R690R,PDE8B:NM_001029852:exon18:c.G1965A:p.R655R,PDE8B:NM_001029854:exon18:c.G1989A:p.R663R,;ANNO=splicing:PDE8B
5	76785399	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR41(NM_018268:c.51-2A>G)
5	77477331	.	C	T	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AP3B1:NM_003664:exon8:c.G942A:p.A314A,;ANNO=splicing:AP3B1
5	78378780	.	G	A	100	PASS	AC=51;STUDIES=5;MAC=51;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BHMT2(NM_017614:c.598+1G>A,NM_001178005:c.406+1G>A)
5	78379449	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:BHMT2(NM_017614:c.781-2A>G,NM_001178005:c.589-2A>G)
5	79285067	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MTX3:NM_001010891:exon4:c.A229G:p.K77E,MTX3:NM_001167741:exon3:c.A46G:p.K16E,;ANNO=splicing:MTX3
5	80024783	.	G	A	100	PASS	AC=87;STUDIES=9;MAC=87;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MSH3:NM_002439:exon10:c.G1567A:p.E523K,;ANNO=splicing:MSH3
5	80057497	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MSH3:NM_002439:exon13:c.A1896G:p.K632K,;ANNO=splicing:MSH3
5	80419585	.	A	C	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=synonymous:RASGRF2:NM_006909:exon16:c.A2595C:p.G865G,;ANNO=splicing:RASGRF2
5	80548515	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CKMT2:NM_001825:exon4:c.G154A:p.A52T,CKMT2:NM_001099736:exon3:c.G154A:p.A52T,CKMT2:NM_001099735:exon3:c.G154A:p.A52T,;ANNO=splicing:CKMT2
5	80608363	.	A	C	100	PASS	AC=22;STUDIES=5;MAC=22;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZCCHC9:NM_001131036:exon6:c.A698C:p.E233A,ZCCHC9:NM_032280:exon6:c.A698C:p.E233A,ZCCHC9:NM_001131035:exon6:c.A698C:p.E233A,;ANNO=splicing:ZCCHC9
5	80911292	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SSBP2:NM_012446:exon4:c.C282T:p.Y94Y,;ANNO=splicing:SSBP2
5	82648943	.	G	A	100	PASS	AC=3974;STUDIES=17;MAC=3974;MAF=0.205;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=1;ANNO=splicing:XRCC4(NM_022406:c.893-1G>A)
5	82875800	.	C	T	100	PASS	AC=23643;STUDIES=22;MAC=695;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VCAN:NM_001164097:exon13:c.C6921T:p.V2307V,VCAN:NM_001126336:exon12:c.C1659T:p.V553V,VCAN:NM_001164098:exon13:c.C4620T:p.V1540V,VCAN:NM_004385:exon14:c.C9882T:p.V3294V,;ANNO=splicing:VCAN
5	82875980	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:VCAN:NM_001164097:exon13:c.C7101T:p.N2367N,VCAN:NM_001126336:exon12:c.C1839T:p.N613N,VCAN:NM_001164098:exon13:c.C4800T:p.N1600N,VCAN:NM_004385:exon14:c.C10062T:p.N3354N,;ANNO=splicing:VCAN
5	83360520	.	C	T	100	PASS	AC=2119;STUDIES=22;MAC=2119;MAF=0.088;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EDIL3:NM_005711:exon8:c.G951A:p.S317S,;ANNO=splicing:EDIL3
5	86628325	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RASA1:NM_002890:exon3:c.A694G:p.I232V,RASA1:NM_022650:exon3:c.A163G:p.I55V,;ANNO=splicing:RASA1
5	86675667	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RASA1:NM_002890:exon19:c.C2603T:p.P868L,RASA1:NM_022650:exon19:c.C2072T:p.P691L,;ANNO=splicing:RASA1
5	86695211	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCNH:NM_001239:exon7:c.C872T:p.T291M,CCNH:NM_001199189:exon7:c.C713T:p.T238M,;ANNO=splicing:CCNH
5	86708721	.	C	A	100	PASS	AC=98;STUDIES=2;MAC=98;MAF=0.050;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:CCNH
5	87502315	.	C	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:TMEM161B:NM_153354:exon7:c.G600T:p.G200G,;ANNO=splicing:TMEM161B
5	89703515	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CETN3(NM_004365:c.153+1G>C)
5	89781500	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:POLR3G:NM_006467:exon2:c.C116T:p.P39L,;ANNO=splicing:POLR3G
5	89797805	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:POLR3G:NM_006467:exon6:c.G438A:p.E146E,;ANNO=splicing:POLR3G
5	89943581	.	G	A	100	PASS	AC=110;STUDIES=15;MAC=110;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPR98:NM_032119:exon17:c.G3289A:p.G1097S,;ANNO=splicing:GPR98
5	90041081	.	A	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPR98:NM_032119:exon51:c.A10768T:p.S3590C,;ANNO=splicing:GPR98
5	90103554	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GPR98:NM_032119:exon73:c.G14972A:p.R4991Q,;ANNO=splicing:GPR98
5	90459600	.	T	G	100	PASS	AC=77;STUDIES=2;MAC=77;MAF=0.169;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:GPR98:NM_032119:exon90:c.T18804G:p.G6268G,;ANNO=splicing:GPR98
5	90669501	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ARRDC3:NM_020801:exon7:c.G1188A:p.E396E,;ANNO=splicing:ARRDC3
5	92929269	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NR2F1:NM_005654:exon3:c.C993T:p.D331D,;ANNO=splicing:NR2F1
5	93812816	.	C	T	100	PASS	AC=67;STUDIES=6;MAC=67;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KIAA0825:NM_001145678:exon7:c.G1227A:p.E409E,;ANNO=splicing:KIAA0825
5	93855954	.	C	A	100	PASS	AC=28;STUDIES=5;MAC=28;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA0825:NM_001145678:exon5:c.G969T:p.L323F,KIAA0825:NM_173665:exon5:c.G969T:p.L323F,;ANNO=splicing:KIAA0825
5	93985301	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ANKRD32:NM_032290:exon6:c.A737G:p.Q246R,;ANNO=splicing:ANKRD32
5	94027270	.	A	G	100	PASS	AC=53;STUDIES=2;MAC=53;MAF=0.096;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:ANKRD32:NM_032290:exon19:c.A2421G:p.G807G,;ANNO=splicing:ANKRD32
5	94850559	.	T	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TTC37:NM_014639:exon26:c.A2703T:p.Q901H,;ANNO=splicing:TTC37
5	94918902	.	A	G	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARSK:NM_198150:exon4:c.A699G:p.K233K,;ANNO=splicing:ARSK
5	94936775	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ARSK:NM_198150:exon7:c.G1321C:p.D441H,;ANNO=splicing:ARSK
5	94989940	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RFESD:NM_001131065:exon4:c.C334T:p.H112Y,RFESD:NM_173362:exon3:c.C175T:p.H59Y,RFESD:NM_001131066:exon4:c.C334T:p.H112Y,;ANNO=splicing:RFESD
5	94989941	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RFESD(NM_001131066:c.334+1G>A,NM_173362:c.175+1G>A,NM_001131065:c.334+1G>A)
5	96076486	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:CAST:NM_173060:exon10:c.C602T:p.S201L,CAST:NM_001042440:exon11:c.C794T:p.S265L,;ANNO=splicing:CAST
5	96076487	.	G	A	100	PASS	AC=6311;STUDIES=22;MAC=6311;MAF=0.260;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CAST:NM_173060:exon10:c.G603A:p.S201S,CAST:NM_001042440:exon11:c.G795A:p.S265S,;ANNO=splicing:CAST
5	96082128	.	C	T	100	PASS	AC=127;STUDIES=7;MAC=127;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CAST:NM_173060:exon14:c.C968T:p.T323M,CAST:NM_001042440:exon15:c.C1160T:p.T387M,CAST:NM_001190442:exon16:c.C995T:p.T332M,;ANNO=splicing:CAST
5	96082129	.	G	A	100	PASS	AC=13;STUDIES=9;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:CAST:NM_173060:exon14:c.G969A:p.T323T,CAST:NM_001042440:exon15:c.G1161A:p.T387T,CAST:NM_001190442:exon16:c.G996A:p.T332T,;ANNO=splicing:CAST
5	96097979	.	A	G	100	PASS	AC=78;STUDIES=10;MAC=78;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CAST:NM_173060:exon22:c.A1520G:p.K507R,CAST:NM_001042440:exon23:c.A1712G:p.K571R,CAST:NM_001190442:exon24:c.A1547G:p.K516R,;ANNO=splicing:CAST
5	96098075	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CAST:NM_173060:exon22:c.C1616T:p.S539L,CAST:NM_001042440:exon23:c.C1808T:p.S603L,CAST:NM_001190442:exon24:c.C1643T:p.S548L,;ANNO=splicing:CAST
5	96112107	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ERAP1:NM_001040458:exon19:c.G2819A:p.R940H,ERAP1:NM_001198541:exon19:c.G2819A:p.R940H,;ANNO=splicing:ERAP1(NM_016442:c.2818+1G>A)
5	96119785	.	C	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ERAP1(NM_016442:c.1943-1G>C,NM_001198541:c.1943-1G>C,NM_001040458:c.1943-1G>C)
5	96121674	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:ERAP1:NM_001040458:exon13:c.T1761C:p.D587D,ERAP1:NM_016442:exon13:c.T1761C:p.D587D,ERAP1:NM_001198541:exon13:c.T1761C:p.D587D,;ANNO=splicing:ERAP1
5	96129506	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:ERAP1:NM_001040458:exon6:c.G1074C:p.Q358H,ERAP1:NM_016442:exon6:c.G1074C:p.Q358H,ERAP1:NM_001198541:exon6:c.G1074C:p.Q358H,;ANNO=synonymous:ERAP1:NM_001040458:exon6:c.G1074A:p.Q358Q,ERAP1:NM_016442:exon6:c.G1074A:p.Q358Q,ERAP1:NM_001198541:exon6:c.G1074A:p.Q358Q,;ANNO=splicing:ERAP1;ANNO=splicing:ERAP1
5	96139107	.	T	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:ERAP1:NM_001040458:exon2:c.A523T:p.R175W,ERAP1:NM_016442:exon2:c.A523T:p.R175W,ERAP1:NM_001198541:exon2:c.A523T:p.R175W,;ANNO=synonymous:ERAP1:NM_001040458:exon2:c.A523C:p.R175R,ERAP1:NM_016442:exon2:c.A523C:p.R175R,ERAP1:NM_001198541:exon2:c.A523C:p.R175R,;ANNO=splicing:ERAP1;ANNO=splicing:ERAP1
5	96222360	.	T	C	100	PASS	AC=76;STUDIES=5;MAC=76;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ERAP2:NM_022350:exon4:c.T716C:p.V239A,ERAP2:NM_001130140:exon4:c.T716C:p.V239A,;ANNO=splicing:ERAP2
5	96460332	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LIX1:NM_153234:exon2:c.G84A:p.L28L,;ANNO=splicing:LIX1
5	98206392	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CHD1:NM_001270:exon28:c.C3977T:p.A1326V,;ANNO=splicing:CHD1
5	101575091	.	C	T	100	PASS	AC=10291;STUDIES=22;MAC=10291;MAF=0.426;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLCO4C1:NM_180991:exon12:c.G1878A:p.G626G,;ANNO=splicing:SLCO4C1
5	102282589	.	C	T	100	PASS	AC=243;STUDIES=18;MAC=243;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PAM:NM_138822:exon7:c.C575T:p.P192L,PAM:NM_001177306:exon7:c.C575T:p.P192L,PAM:NM_000919:exon7:c.C575T:p.P192L,PAM:NM_138766:exon7:c.C575T:p.P192L,PAM:NM_138821:exon7:c.C575T:p.P192L,;ANNO=splicing:PAM
5	102530601	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PPIP5K2:NM_015216:exon28:c.C3431T:p.S1144F,;ANNO=splicing:PPIP5K2
5	108171409	.	G	T	100	PASS	AC=93;STUDIES=16;MAC=93;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FER:NM_005246:exon5:c.G382T:p.V128F,;ANNO=splicing:FER
5	108207912	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FER:NM_005246:exon8:c.A922G:p.M308V,;ANNO=splicing:FER
5	109049221	.	G	A	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MAN2A1:NM_002372:exon2:c.G136A:p.G46S,;ANNO=splicing:MAN2A1
5	109190841	.	G	A	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MAN2A1:NM_002372:exon20:c.G2977A:p.E993K,;ANNO=splicing:MAN2A1
5	109760524	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TMEM232:NM_001039763:exon13:c.C1797T:p.H599H,;ANNO=splicing:TMEM232
5	109963482	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM232:NM_001039763:exon6:c.G601A:p.A201T,;ANNO=splicing:TMEM232
5	110411644	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TSLP:NM_033035:exon4:c.A352G:p.I118V,;ANNO=splicing:TSLP
5	110448851	.	T	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WDR36:NM_139281:exon16:c.T1963G:p.C655G,;ANNO=splicing:WDR36
5	110784900	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CAMK4:NM_001744:exon7:c.C624T:p.C208C,;ANNO=splicing:CAMK4
5	110843028	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STARD4:NM_139164:exon2:c.C104T:p.T35M,;ANNO=splicing:STARD4
5	111500815	.	T	A	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:EPB41L4A:NM_022140:exon23:c.A1933T:p.R645X,;ANNO=splicing:EPB41L4A
5	111575356	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EPB41L4A(NM_022140:c.965+1G>T)
5	111643084	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EPB41L4A:NM_022140:exon2:c.C203T:p.T68M,;ANNO=splicing:EPB41L4A
5	112173250	.	G	A	100	PASS	AC=107;STUDIES=16;MAC=107;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:APC:NM_001127511:exon14:c.G1905A:p.R635R,APC:NM_001127510:exon17:c.G1959A:p.R653R,APC:NM_000038:exon16:c.G1959A:p.R653R,;ANNO=splicing:APC
5	112198206	.	T	G	100	PASS	AC=24;STUDIES=2;MAC=24;MAF=0.050;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:SRP19:NM_001204194:exon2:c.T43G:p.F15V,SRP19:NM_001204193:exon2:c.T43G:p.F15V,SRP19:NM_003135:exon2:c.T43G:p.F15V,SRP19:NM_001204199:exon2:c.T43G:p.F15V,;ANNO=splicing:SRP19
5	112384791	.	T	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MCC:NM_001085377:exon16:c.A2654T:p.K885M,MCC:NM_002387:exon14:c.A2084T:p.K695M,;ANNO=splicing:MCC
5	112389656	.	G	A	100	PASS	AC=51;STUDIES=7;MAC=51;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MCC:NM_001085377:exon15:c.C2214T:p.S738S,MCC:NM_002387:exon13:c.C1644T:p.S548S,;ANNO=splicing:MCC
5	112406790	.	C	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:MCC(NM_002387:c.1355+1G>C,NM_001085377:c.1925+1G>C)
5	114466290	.	T	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TRIM36:NM_018700:exon9:c.A1831C:p.R611R,;ANNO=splicing:TRIM36
5	115205714	.	A	G	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:AP3S1:NM_001284:exon3:c.A162G:p.L54L,;ANNO=splicing:AP3S1
5	115249059	.	G	A	100	PASS	AC=30;STUDIES=4;MAC=30;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AP3S1:NM_001284:exon6:c.G454A:p.A152T,;ANNO=splicing:AP3S1
5	115808770	.	A	G	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SEMA6A:NM_020796:exon17:c.T1728C:p.N576N,;ANNO=splicing:SEMA6A
5	118176782	.	T	C	100	PASS	AC=27;STUDIES=11;MAC=27;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DTWD2:NM_173666:exon6:c.A727G:p.T243A,;ANNO=splicing:DTWD2
5	118280254	.	C	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:DTWD2:NM_173666:exon2:c.G309T:p.E103D,;ANNO=splicing:DTWD2
5	118552596	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DMXL1:NM_005509:exon34:c.A7864G:p.I2622V,;ANNO=splicing:DMXL1
5	118813113	.	T	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HSD17B4:NM_000414:exon7:c.T351A:p.D117E,HSD17B4:NM_001199292:exon6:c.T297A:p.D99E,HSD17B4:NM_001199291:exon8:c.T426A:p.D142E,;ANNO=splicing:HSD17B4
5	122143973	.	G	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SNX2:NM_003100:exon7:c.G645T:p.G215G,;ANNO=splicing:SNX2
5	122758723	.	G	A	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:CEP120
5	122930734	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CSNK1G3:NM_001044723:exon11:c.C1088T:p.S363L,CSNK1G3:NM_004384:exon11:c.C1088T:p.S363L,;ANNO=splicing:CSNK1G3
5	125801239	.	T	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GRAMD3(NM_001146319:c.248+2T>C,NM_001146320:c.3+2T>C,NM_023927:c.203+2T>C,NM_001146321:c.184+2T>C,NM_001146322:c.155+2T>C)
5	125802027	.	G	A	100	PASS	AC=1474;STUDIES=6;MAC=1474;MAF=0.239;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:GRAMD3:NM_001146321:exon3:c.G226A:p.E76K,;ANNO=splicing:GRAMD3
5	125880710	.	T	C	100	PASS	AC=138;STUDIES=19;MAC=138;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:ALDH7A1:NM_001201377:exon18:c.A1483G:p.T495A,ALDH7A1:NM_001182:exon18:c.A1567G:p.T523A,ALDH7A1:NM_001202404:exon16:c.A1456G:p.T486A,;ANNO=splicing:ALDH7A1
5	125895026	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:ALDH7A1:NM_001201377:exon11:c.C830G:p.A277G,ALDH7A1:NM_001182:exon11:c.C914G:p.A305G,ALDH7A1:NM_001202404:exon11:c.C995G:p.A332G,;ANNO=splicing:ALDH7A1
5	126769200	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MEGF10:NM_032446:exon15:c.G1839A:p.R613R,;ANNO=splicing:MEGF10
5	126860223	.	C	T	100	PASS	AC=427;STUDIES=21;MAC=427;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRRC1:NM_130809:exon3:c.C104T:p.A35V,;ANNO=splicing:PRRC1
5	126883615	.	T	C	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRRC1(NM_130809:c.1128+2T>C)
5	127497352	.	G	A	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC12A2:NM_001046:exon17:c.G2476A:p.G826S,;ANNO=splicing:SLC12A2
5	127611731	.	T	C	100	PASS	AC=23;STUDIES=6;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FBN2:NM_001999:exon59:c.A7593G:p.K2531K,;ANNO=splicing:FBN2
5	127625639	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:FBN2:NM_001999:exon51:c.T6446G:p.V2149G,;ANNO=nonsynonymous:FBN2:NM_001999:exon51:c.T6446C:p.V2149A,;ANNO=splicing:FBN2;ANNO=splicing:FBN2
5	127670412	.	T	G	100	PASS	AC=290;STUDIES=10;MAC=290;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FBN2:NM_001999:exon31:c.A4098C:p.T1366T,;ANNO=splicing:FBN2
5	127700294	.	A	T	100	PASS	AC=12;STUDIES=7;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FBN2:NM_001999:exon18:c.T2427A:p.I809I,;ANNO=splicing:FBN2
5	127866385	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FBN2:NM_001999:exon3:c.G339A:p.P113P,;ANNO=splicing:FBN2
5	128301211	.	A	G	100	PASS	AC=939;STUDIES=3;MAC=939;MAF=0.456;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:SLC27A6
5	128359404	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC27A6(NM_014031:c.1255+1G>A,NM_001017372:c.1255+1G>A)
5	130500789	.	C	G	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:HINT1:NM_005340:exon1:c.G110C:p.R37P,;ANNO=splicing:HINT1
5	130939019	.	A	C	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RAPGEF6:NM_001164387:exon3:c.T142G:p.L48V,RAPGEF6:NM_016340:exon3:c.T142G:p.L48V,RAPGEF6:NM_001164388:exon3:c.T142G:p.L48V,RAPGEF6:NM_001164389:exon3:c.T142G:p.L48V,RAPGEF6:NM_001164386:exon3:c.T142G:p.L48V,RAPGEF6:NM_001164390:exon3:c.T142G:p.L48V,;ANNO=splicing:RAPGEF6
5	131302110	.	G	A	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ACSL6:NM_001205250:exon17:c.C1670T:p.P557L,ACSL6:NM_001205248:exon17:c.C1637T:p.P546L,ACSL6:NM_001009185:exon17:c.C1712T:p.P571L,ACSL6:NM_001205247:exon17:c.C1607T:p.P536L,ACSL6:NM_001205251:exon16:c.C1412T:p.P471L,ACSL6:NM_015256:exon17:c.C1712T:p.P571L,;ANNO=splicing:ACSL6
5	131325201	.	C	T	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACSL6:NM_001205250:exon5:c.G409A:p.V137M,ACSL6:NM_001205248:exon5:c.G376A:p.V126M,ACSL6:NM_001009185:exon5:c.G451A:p.V151M,ACSL6:NM_001205247:exon5:c.G346A:p.V116M,ACSL6:NM_001205251:exon5:c.G271A:p.V91M,ACSL6:NM_015256:exon5:c.G451A:p.V151M,;ANNO=splicing:ACSL6
5	131410628	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CSF2:NM_000758:exon3:c.G327A:p.P109P,;ANNO=splicing:CSF2
5	131533898	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:P4HA2(NM_004199:c.1371+1G>A,NM_001142599:c.1371+1G>A)
5	131533963	.	T	C	100	PASS	AC=24;STUDIES=4;MAC=24;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:P4HA2:NM_004199:exon12:c.A1307G:p.N436S,P4HA2:NM_001142599:exon13:c.A1307G:p.N436S,;ANNO=splicing:P4HA2
5	131534014	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:P4HA2:NM_001017974:exon12:c.C1365T:p.Y455Y,P4HA2:NM_001142598:exon13:c.C1365T:p.Y455Y,P4HA2:NM_001017973:exon12:c.C1365T:p.Y455Y,;ANNO=splicing:P4HA2
5	131549608	.	C	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:P4HA2(NM_001142598:c.469+1G>T,NM_004199:c.469+1G>T,NM_001142599:c.469+1G>T,NM_001017974:c.469+1G>T,NM_001017973:c.469+1G>T)
5	131671693	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC22A4:NM_003059:exon8:c.G1444A:p.G482S,;ANNO=splicing:SLC22A4
5	131729368	.	G	T	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC22A5:NM_003060:exon9:c.G1451T:p.G484V,;ANNO=splicing:SLC22A5
5	131729503	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC22A5:NM_003060:exon9:c.G1586T:p.G529V,;ANNO=splicing:SLC22A5
5	131878817	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IL5:NM_000879:exon2:c.C146T:p.T49I,;ANNO=splicing:IL5
5	131939181	.	G	C	100	PASS	AC=10;STUDIES=8;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RAD50:NM_005732:exon14:c.G2397C:p.Q799H,;ANNO=splicing:RAD50
5	132085115	.	G	C	100	PASS	AC=20;STUDIES=9;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCNI2(NM_001039780:c.633+1G>C)
5	132269839	.	A	G	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AFF4:NM_014423:exon3:c.T918C:p.D306D,;ANNO=splicing:AFF4
5	132409020	.	A	G	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HSPA4:NM_002154:exon5:c.A528G:p.A176A,;ANNO=splicing:HSPA4
5	132409023	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HSPA4(NM_002154:c.529+2T>C)
5	132556441	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FSTL4:NM_015082:exon12:c.A1457G:p.Y486C,;ANNO=splicing:FSTL4
5	133480486	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TCF7(NM_201634:c.730-2A>G)
5	134074481	.	G	T	100	PASS	AC=110;STUDIES=7;MAC=110;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CAMLG:NM_001745:exon1:c.G171T:p.A57A,;ANNO=splicing:CAMLG
5	134345062	.	A	G	100	PASS	AC=37;STUDIES=13;MAC=37;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CATSPER3:NM_178019:exon6:c.A818G:p.D273G,;ANNO=splicing:CATSPER3
5	135170583	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC25A48(NM_145282:c.46+1G>A)
5	135188510	.	G	A	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC25A48:NM_145282:exon4:c.G421A:p.G141R,;ANNO=splicing:SLC25A48
5	135231243	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IL9(NM_000590:c.150+1G>A)
5	135290477	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LECT2:NM_002302:exon1:c.G46A:p.A16T,;ANNO=splicing:LECT2
5	135290478	.	G	A	100	PASS	AC=20;STUDIES=5;MAC=20;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LECT2:NM_002302:exon1:c.C45T:p.T15T,;ANNO=splicing:LECT2
5	135394903	.	G	A	100	PASS	AC=287;STUDIES=15;MAC=287;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TGFBI:NM_000358:exon13:c.G1803A:p.L601L,;ANNO=splicing:TGFBI
5	137213210	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYOT:NM_006790:exon4:c.G533A:p.R178H,;ANNO=splicing:MYOT
5	137225210	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PKD2L2:NM_014386:exon1:c.C30A:p.G10G,;ANNO=splicing:PKD2L2
5	137260793	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PKD2L2:NM_014386:exon11:c.C1616T:p.T539I,;ANNO=splicing:PKD2L2
5	137464169	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NME5:NM_003551:exon4:c.A435G:p.E145E,;ANNO=splicing:NME5
5	137525322	.	A	G	100	PASS	AC=156;STUDIES=8;MAC=156;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CDC23:NM_004661:exon15:c.T1623C:p.D541D,;ANNO=splicing:CDC23
5	137589456	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GFRA3:NM_001496:exon6:c.C1023T:p.L341L,;ANNO=splicing:GFRA3
5	137589849	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GFRA3:NM_001496:exon5:c.A786G:p.R262R,;ANNO=splicing:GFRA3
5	137627806	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDC25C(NM_001790:c.615-1G>A,NM_022809:c.396-1G>A)
5	137780104	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:REEP2:NM_016606:exon4:c.G183T:p.W61C,;ANNO=splicing:REEP2
5	138700253	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PAIP2:NM_001033112:exon3:c.A139G:p.I47V,PAIP2:NM_016480:exon3:c.A139G:p.I47V,;ANNO=splicing:PAIP2
5	138716242	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC23A1:NM_152685:exon5:c.T477C:p.H159H,;ANNO=splicing:SLC23A1
5	138837189	.	C	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ECSCR:NM_001077693:exon4:c.G158T:p.G53V,;ANNO=splicing:ECSCR
5	138857856	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TMEM173:NM_198282:exon6:c.G758A:p.R253Q,;ANNO=splicing:TMEM173
5	139202369	.	C	T	100	PASS	AC=103;STUDIES=17;MAC=103;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PSD2:NM_032289:exon7:c.C1269T:p.H423H,;ANNO=splicing:PSD2
5	139215308	.	A	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PSD2:NM_032289:exon9:c.A1360T:p.T454S,;ANNO=splicing:PSD2
5	139828797	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ANKHD1:NM_017747:exon7:c.C1149T:p.G383G,ANKHD1:NM_017978:exon7:c.C1116T:p.G372G,ANKHD1:NM_024668:exon7:c.C1149T:p.G383G,ANKHD1:NM_001197030:exon7:c.C1149T:p.G383G,ANKHD1-EIF4EBP3:NM_020690:exon7:c.C1149T:p.G383G,;ANNO=splicing:ANKHD1,ANKHD1-EIF4EBP3
5	139844253	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ANKHD1:NM_017747:exon10:c.C1674T:p.G558G,ANKHD1:NM_017978:exon10:c.C1641T:p.G547G,ANKHD1:NM_024668:exon10:c.C1674T:p.G558G,ANKHD1-EIF4EBP3:NM_020690:exon10:c.C1674T:p.G558G,;ANNO=splicing:ANKHD1,ANKHD1-EIF4EBP3
5	139940340	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:APBB3(NM_133172:c.931-1G>C,NM_133174:c.910-1G>C,NM_133173:c.916-1G>C,NM_006051:c.937-1G>C)
5	139941686	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:APBB3:NM_133174:exon6:c.C625T:p.R209W,APBB3:NM_006051:exon6:c.C625T:p.R209C,APBB3:NM_133172:exon6:c.C625T:p.R209C,APBB3:NM_133173:exon6:c.C625T:p.R209C,;ANNO=splicing:APBB3
5	140021637	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TMCO6:NM_018502:exon4:c.T497C:p.I166T,;ANNO=splicing:TMCO6
5	140054717	.	G	A	100	PASS	AC=69;STUDIES=6;MAC=69;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HARS:NM_002109:exon11:c.C1196T:p.A399V,;ANNO=splicing:HARS
5	140059374	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HARS:NM_002109:exon4:c.C395G:p.T132S,;ANNO=splicing:HARS
5	140076750	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HARS2:NM_012208:exon10:c.T956C:p.I319T,;ANNO=splicing:HARS2
5	140213970	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PCDHA7:NM_018910:exon1:c.T2G:p.M1R,PCDHA7:NM_031852:exon1:c.T2G:p.M1R,;ANNO=splicing:PCDHA7
5	141017975	.	C	T	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:RELL2:NM_001130029:exon2:c.C183G:p.P61P,RELL2:NM_173828:exon1:c.C183G:p.P61P,;ANNO=synonymous:RELL2:NM_001130029:exon2:c.C183T:p.P61P,RELL2:NM_173828:exon1:c.C183T:p.P61P,;ANNO=splicing:RELL2;ANNO=splicing:RELL2
5	141021269	.	C	T	100	PASS	AC=25;STUDIES=2;MAC=25;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FCHSD1:NM_033449:exon19:c.G2007A:p.P669P,;ANNO=splicing:FCHSD1
5	141022569	.	C	T	100	PASS	AC=48;STUDIES=3;MAC=48;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FCHSD1:NM_033449:exon18:c.G1950A:p.G650G,;ANNO=splicing:FCHSD1
5	141024259	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FCHSD1(NM_033449:c.1524-2A>G)
5	141035325	.	G	A	100	PASS	AC=21;STUDIES=9;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ARAP3:NM_022481:exon31:c.C3973T:p.H1325Y,;ANNO=splicing:ARAP3
5	141041355	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ARAP3:NM_022481:exon21:c.G3015A:p.E1005E,;ANNO=splicing:ARAP3
5	141044943	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ARAP3(NM_022481:c.2572-2A>G)
5	141309741	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA0141(NM_014773:c.657-2A>G,NM_001142603:c.657-2A>G)
5	141314058	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA0141(NM_014773:c.1056-1G>A,NM_001142603:c.1056-1G>A)
5	141511459	.	A	C	100	PASS	AC=21;STUDIES=12;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NDFIP1:NM_030571:exon2:c.A150C:p.A50A,;ANNO=splicing:NDFIP1
5	142311690	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ARHGAP26:NM_015071:exon11:c.T1107C:p.P369P,ARHGAP26:NM_001135608:exon11:c.T1107C:p.P369P,;ANNO=splicing:ARHGAP26
5	142593652	.	C	T	100	PASS	AC=22129;STUDIES=21;MAC=121;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGAP26:NM_015071:exon22:c.C2355T:p.N785N,ARHGAP26:NM_001135608:exon22:c.C2190T:p.N730N,;ANNO=splicing:ARHGAP26
5	142814865	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NR3C1
5	143544997	.	T	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:YIPF5:NM_030799:exon3:c.A282T:p.E94D,YIPF5:NM_001024947:exon3:c.A282T:p.E94D,;ANNO=splicing:YIPF5
5	145199581	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PRELID2:NM_138492:exon4:c.A47G:p.D16G,PRELID2:NM_182960:exon3:c.A134G:p.D45G,PRELID2:NM_205846:exon3:c.A134G:p.D45G,;ANNO=splicing:PRELID2
5	145477855	.	T	C	100	PASS	AC=6417;STUDIES=22;MAC=6417;MAF=0.265;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLAC8L1:NM_001029869:exon2:c.A120G:p.R40R,;ANNO=splicing:PLAC8L1
5	145483756	.	C	T	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLAC8L1:NM_001029869:exon1:c.G119A:p.R40K,;ANNO=splicing:PLAC8L1
5	145508347	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LARS(NM_020117:c.2769-2A>G)
5	145610218	.	A	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RBM27(NM_018989:c.589-2A>C)
5	145719112	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:POU4F3:NM_002700:exon2:c.T122C:p.L41P,;ANNO=splicing:POU4F3
5	145836746	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TCERG1:NM_001040006:exon3:c.A286C:p.R96R,TCERG1:NM_006706:exon3:c.A286C:p.R96R,;ANNO=splicing:TCERG1
5	147207583	.	A	G	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPINK1(NM_003122:c.194+2T>C)
5	147207585	.	C	T	100	PASS	AC=12;STUDIES=8;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPINK1:NM_003122:exon3:c.G194A:p.R65Q,;ANNO=splicing:SPINK1
5	147281191	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C5orf46(NM_206966:c.215+1G>A)
5	147693788	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPINK7(NM_032566:c.212+1G>C)
5	148408117	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SH3TC2:NM_024577:exon11:c.C1178T:p.A393V,;ANNO=splicing:SH3TC2
5	148420239	.	A	C	100	PASS	AC=64;STUDIES=2;MAC=64;MAF=0.130;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SH3TC2:NM_024577:exon7:c.T733G:p.W245G,;ANNO=splicing:SH3TC2
5	148431804	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SH3TC2(NM_024577:c.52-1G>A)
5	148620240	.	G	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ABLIM3:NM_014945:exon14:c.G1206T:p.G402G,;ANNO=splicing:ABLIM3
5	148695476	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AFAP1L1:NM_152406:exon10:c.C1113T:p.H371H,AFAP1L1:NM_001146337:exon10:c.C1113T:p.H371H,;ANNO=splicing:AFAP1L1
5	148977519	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ARHGEF37(NM_001001669:c.186+1G>A)
5	148989259	.	G	A	100	PASS	AC=123;STUDIES=16;MAC=123;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ARHGEF37(NM_001001669:c.458+1G>A)
5	148996328	.	G	A	100	PASS	AC=379;STUDIES=18;MAC=379;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGEF37:NM_001001669:exon5:c.G657A:p.V219V,;ANNO=splicing:ARHGEF37
5	149006640	.	C	T	100	PASS	AC=8708;STUDIES=20;MAC=8708;MAF=0.459;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:ARHGEF37:NM_001001669:exon11:c.C1466T:p.P489L,;ANNO=splicing:ARHGEF37
5	149433886	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CSF1R:NM_005211:exon21:c.G2762A:p.R921Q,;ANNO=splicing:CSF1R
5	149500451	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PDGFRB:NM_002609:exon18:c.C2586T:p.S862S,;ANNO=splicing:PDGFRB
5	149500767	.	G	A	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PDGFRB:NM_002609:exon17:c.C2463T:p.N821N,;ANNO=splicing:PDGFRB
5	149512314	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDGFRB:NM_002609:exon7:c.C1126T:p.R376W,;ANNO=splicing:PDGFRB
5	149514578	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PDGFRB:NM_002609:exon4:c.T366C:p.D122D,;ANNO=splicing:PDGFRB
5	149515440	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PDGFRB:NM_002609:exon3:c.C42T:p.G14G,;ANNO=splicing:PDGFRB
5	149576280	.	C	T	100	PASS	AC=29;STUDIES=7;MAC=29;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC6A7:NM_014228:exon3:c.C219T:p.G73G,;ANNO=splicing:SLC6A7
5	149755987	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TCOF1:NM_001135243:exon14:c.C2144T:p.A715V,TCOF1:NM_001135244:exon14:c.C2144T:p.A715V,TCOF1:NM_000356:exon13:c.C1913T:p.A638V,TCOF1:NM_001195141:exon14:c.C2144T:p.A715V,TCOF1:NM_001135245:exon13:c.C1913T:p.A638V,TCOF1:NM_001008657:exon14:c.C2144T:p.A715V,;ANNO=splicing:TCOF1
5	149759096	.	T	C	100	PASS	AC=3812;STUDIES=22;MAC=3812;MAF=0.159;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TCOF1:NM_001135243:exon17:c.T2660C:p.V887A,TCOF1:NM_001135244:exon17:c.T2660C:p.V887A,TCOF1:NM_000356:exon16:c.T2429C:p.V810A,TCOF1:NM_001195141:exon17:c.T2660C:p.V887A,TCOF1:NM_001135245:exon16:c.T2429C:p.V810A,TCOF1:NM_001008657:exon17:c.T2660C:p.V887A,;ANNO=splicing:TCOF1
5	149772936	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:TCOF1:NM_001135243:exon23:c.C3602T:p.S1201F,TCOF1:NM_001135244:exon22:c.C3491T:p.S1164F,TCOF1:NM_000356:exon22:c.C3371T:p.S1124F,TCOF1:NM_001195141:exon22:c.C3488T:p.S1163F,TCOF1:NM_001135245:exon22:c.C3374T:p.S1125F,;ANNO=splicing:TCOF1
5	149826526	.	C	T	100	PASS	AC=6092;STUDIES=22;MAC=6092;MAF=0.251;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:RPS14:NM_005617:exon3:c.G150A:p.K50K,RPS14:NM_001025071:exon3:c.G150A:p.K50K,RPS14:NM_001025070:exon3:c.G150A:p.K50K,;ANNO=splicing:RPS14
5	150051315	.	A	G	100	PASS	AC=18;STUDIES=10;MAC=18;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYOZ3(NM_133371:c.270-2A>G,NM_001122853:c.270-2A>G)
5	150097945	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DCTN4:NM_001135644:exon11:c.G793A:p.E265K,DCTN4:NM_016221:exon11:c.G964A:p.E322K,DCTN4:NM_001135643:exon12:c.G985A:p.E329K,;ANNO=splicing:DCTN4
5	150102470	.	C	T	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DCTN4:NM_001135644:exon9:c.G736A:p.V246I,DCTN4:NM_016221:exon9:c.G907A:p.V303I,DCTN4:NM_001135643:exon10:c.G928A:p.V310I,;ANNO=splicing:DCTN4
5	150121677	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DCTN4:NM_001135644:exon4:c.G257A:p.R86Q,DCTN4:NM_016221:exon4:c.G428A:p.R143Q,DCTN4:NM_001135643:exon4:c.G428A:p.R143Q,;ANNO=splicing:DCTN4
5	150431727	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TNIP1:NM_006058:exon7:c.C721T:p.R241W,;ANNO=splicing:TNIP1
5	150436517	.	G	A	100	PASS	AC=247;STUDIES=19;MAC=247;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TNIP1:NM_006058:exon6:c.C437T:p.A146V,;ANNO=splicing:TNIP1
5	150497320	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ANXA6:NM_001155:exon19:c.C1517T:p.T506M,ANXA6:NM_001193544:exon18:c.C1421T:p.T474M,;ANNO=splicing:ANXA6
5	150519008	.	C	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ANXA6:NM_001155:exon4:c.G110T:p.G37V,ANXA6:NM_001193544:exon3:c.G14T:p.G5V,;ANNO=splicing:ANXA6
5	150646292	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:GM2A:NM_001167607:exon3:c.G244C:p.V82L,GM2A:NM_000405:exon3:c.G244C:p.V82L,;ANNO=splicing:GM2A
5	150668495	.	C	T	100	PASS	AC=18;STUDIES=4;MAC=18;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:SLC36A3:NM_001145017:exon5:c.G527A:p.R176K,;ANNO=splicing:SLC36A3
5	150723069	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC36A2(NM_181776:c.344+2T>C)
5	150838496	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC36A1:NM_078483:exon2:c.C143T:p.T48I,;ANNO=splicing:SLC36A1
5	150846761	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:SLC36A1:NM_078483:exon6:c.C421G:p.R141G,;ANNO=nonsynonymous:SLC36A1:NM_078483:exon6:c.C421T:p.R141C,;ANNO=splicing:SLC36A1;ANNO=splicing:SLC36A1
5	150846761	.	C	T	100	PASS	AC=44;STUDIES=5;MAC=44;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:SLC36A1:NM_078483:exon6:c.C421G:p.R141G,;ANNO=nonsynonymous:SLC36A1:NM_078483:exon6:c.C421T:p.R141C,;ANNO=splicing:SLC36A1;ANNO=splicing:SLC36A1
5	150847269	.	T	C	100	PASS	AC=29;STUDIES=8;MAC=29;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC36A1:NM_078483:exon7:c.T506C:p.V169A,;ANNO=splicing:SLC36A1
5	150853331	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC36A1:NM_078483:exon8:c.T821C:p.M274T,;ANNO=splicing:SLC36A1
5	150907694	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAT2:NM_001447:exon15:c.G10027T:p.V3343L,;ANNO=splicing:FAT2
5	151045923	.	C	T	100	PASS	AC=95;STUDIES=17;MAC=95;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPARC:NM_003118:exon8:c.G733A:p.G245R,;ANNO=splicing:SPARC
5	151051255	.	T	C	100	PASS	AC=18;STUDIES=4;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPARC:NM_003118:exon5:c.A209G:p.N70S,;ANNO=splicing:SPARC
5	151179780	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:G3BP1:NM_005754:exon10:c.C957T:p.I319I,G3BP1:NM_198395:exon10:c.C957T:p.I319I,;ANNO=splicing:G3BP1
5	151775145	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:NMUR2:NM_020167:exon3:c.T812C:p.F271S,;ANNO=splicing:NMUR2
5	152870529	.	C	A	100	PASS	AC=150;STUDIES=18;MAC=150;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GRIA1:NM_001114183:exon1:c.C81A:p.I27I,GRIA1:NM_000827:exon1:c.C81A:p.I27I,;ANNO=splicing:GRIA1
5	153377364	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM114A2:NM_018691:exon12:c.G1328A:p.G443E,;ANNO=splicing:FAM114A2
5	153783664	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GALNT10:NM_198321:exon8:c.G1057T:p.V353L,;ANNO=splicing:GALNT10
5	154202947	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C5orf4:NM_032385:exon6:c.G572A:p.R191Q,;ANNO=splicing:C5orf4
5	154271948	.	G	A	100	PASS	AC=22643;STUDIES=21;MAC=791;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:GEMIN5:NM_015465:exon25:c.C3759T:p.D1253D,;ANNO=splicing:GEMIN5
5	154282235	.	T	C	100	PASS	AC=2262;STUDIES=22;MAC=2262;MAF=0.093;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GEMIN5:NM_015465:exon20:c.A2730G:p.G910G,;ANNO=splicing:GEMIN5
5	154287152	.	C	T	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GEMIN5:NM_015465:exon16:c.G2394A:p.A798A,;ANNO=splicing:GEMIN5
5	154305423	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GEMIN5:NM_015465:exon8:c.C1292T:p.A431V,;ANNO=splicing:GEMIN5
5	154320697	.	G	A	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=synonymous:MRPL22:NM_014180:exon1:c.G27A:p.L9L,;ANNO=nonsynonymous:MRPL22:NM_014180:exon1:c.G27C:p.L9F,;ANNO=splicing:MRPL22;ANNO=splicing:MRPL22
5	154336695	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MRPL22:NM_001014990:exon4:c.A22G:p.I8V,MRPL22:NM_014180:exon5:c.A262G:p.I88V,;ANNO=splicing:MRPL22
5	156349228	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TIMD4(NM_001146726:c.810-1G>T,NM_138379:c.894-1G>T)
5	156522469	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HAVCR2:NM_032782:exon5:c.A524G:p.Q175R,;ANNO=splicing:HAVCR2
5	156659403	.	C	T	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITK:NM_005546:exon8:c.C767T:p.T256I,;ANNO=splicing:ITK
5	156908012	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADAM19(NM_033274:c.2703-2A>G)
5	158702254	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UBLCP1:NM_145049:exon8:c.C684T:p.D228D,;ANNO=splicing:UBLCP1
5	159832038	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLU7:NM_006425:exon13:c.T1392C:p.V464V,;ANNO=splicing:SLU7
5	159833476	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLU7:NM_006425:exon12:c.C1286T:p.T429I,;ANNO=splicing:SLU7
5	159835658	.	A	G	100	PASS	AC=16552;STUDIES=22;MAC=7580;MAF=0.314;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLU7:NM_006425:exon7:c.T686C:p.M229T,;ANNO=splicing:SLU7
5	160059137	.	A	G	100	PASS	AC=81;STUDIES=12;MAC=81;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ATP10B:NM_025153:exon13:c.T1619C:p.I540T,;ANNO=splicing:ATP10B
5	161113235	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GABRA6(NM_000811:c.38-1G>C)
5	161281164	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GABRA1:NM_001127646:exon3:c.C75T:p.S25S,GABRA1:NM_001127647:exon3:c.C75T:p.S25S,GABRA1:NM_001127643:exon4:c.C75T:p.S25S,GABRA1:NM_000806:exon4:c.C75T:p.S25S,GABRA1:NM_001127648:exon2:c.C75T:p.S25S,GABRA1:NM_001127645:exon3:c.C75T:p.S25S,GABRA1:NM_001127644:exon3:c.C75T:p.S25S,;ANNO=splicing:GABRA1
5	161531031	.	C	T	100	PASS	AC=16;STUDIES=3;MAC=16;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GABRG2:NM_198904:exon6:c.C768T:p.S256S,GABRG2:NM_000816:exon6:c.C768T:p.S256S,GABRG2:NM_198903:exon7:c.C888T:p.S296S,;ANNO=splicing:GABRG2
5	162902464	.	G	T	100	PASS	AC=35;STUDIES=9;MAC=35;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:HMMR:NM_012485:exon10:c.G1006T:p.E336X,HMMR:NM_012484:exon11:c.G1051T:p.E351X,HMMR:NM_001142556:exon11:c.G1054T:p.E352X,HMMR:NM_001142557:exon8:c.G793T:p.E265X,;ANNO=splicing:HMMR
5	162911075	.	C	A	100	PASS	AC=2447;STUDIES=21;MAC=2447;MAF=0.105;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HMMR:NM_012485:exon15:c.C1738A:p.L580I,HMMR:NM_012484:exon16:c.C1783A:p.L595I,HMMR:NM_001142556:exon16:c.C1786A:p.L596I,HMMR:NM_001142557:exon13:c.C1525A:p.L509I,;ANNO=splicing:HMMR
5	162940999	.	A	G	100	PASS	AC=3246;STUDIES=22;MAC=3246;MAF=0.134;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MAT2B:NM_013283:exon4:c.A525G:p.L175L,MAT2B:NM_182796:exon4:c.A492G:p.L164L,;ANNO=splicing:MAT2B
5	167922442	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RARS(NM_002887:c.701+1G>A)
5	168222582	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLIT3:NM_003062:exon10:c.C937T:p.R313C,;ANNO=splicing:SLIT3
5	169023563	.	A	G	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC99(NM_017785:c.891-2A>G)
5	169506149	.	G	A	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DOCK2:NM_004946:exon49:c.G5165A:p.R1722Q,;ANNO=splicing:DOCK2
5	169533534	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:FOXI1:NM_144769:exon1:c.G573A:p.P191P,FOXI1:NM_012188:exon1:c.G573A:p.P191P,;ANNO=splicing:FOXI1
5	169535339	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FOXI1:NM_144769:exon2:c.C576G:p.A192A,FOXI1:NM_012188:exon2:c.C861G:p.A287A,;ANNO=splicing:FOXI1
5	169688140	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LCP2:NM_005565:exon14:c.C928A:p.H310N,;ANNO=splicing:LCP2
5	169810853	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KCNMB1:NM_004137:exon3:c.G136A:p.V46M,;ANNO=splicing:KCNMB1
5	170323053	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:RANBP17(NM_022897:c.423-1G>A);ANNO=splicing:RANBP17(NM_022897:c.423-1G>T)
5	170323055	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RANBP17:NM_022897:exon5:c.G425A:p.G142D,;ANNO=splicing:RANBP17
5	170610234	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RANBP17:NM_022897:exon17:c.G1929A:p.T643T,;ANNO=splicing:RANBP17
5	170818427	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:NPM1:NM_002520:exon3:c.C257T:p.T86M,NPM1:NM_199185:exon3:c.C257T:p.T86M,NPM1:NM_001037738:exon3:c.C257T:p.T86M,;ANNO=splicing:NPM1
5	171509966	.	T	G	100	PASS	AC=49;STUDIES=13;MAC=49;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STK10:NM_005990:exon11:c.A1808C:p.N603T,;ANNO=splicing:STK10
5	171523430	.	G	A	100	PASS	AC=8;STUDIES=7;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:STK10:NM_005990:exon8:c.C1005T:p.S335S,;ANNO=splicing:STK10
5	171789873	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SH3PXD2B:NM_001017995:exon7:c.G428T:p.G143V,;ANNO=splicing:SH3PXD2B
5	172324078	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ERGIC1(NM_001031711:c.155+1G>A)
5	172550204	.	C	T	100	PASS	AC=2364;STUDIES=22;MAC=2364;MAF=0.098;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C5orf41:NM_153607:exon8:c.C1803T:p.L601L,;ANNO=splicing:C5orf41
5	172750223	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STC2:NM_003714:exon3:c.G505A:p.E169K,;ANNO=splicing:STC2
5	172753012	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:STC2:NM_003714:exon2:c.G153A:p.A51A,;ANNO=splicing:STC2
5	172753013	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STC2:NM_003714:exon2:c.C152T:p.A51V,;ANNO=splicing:STC2
5	173034149	.	T	C	100	PASS	AC=480;STUDIES=2;MAC=480;MAF=0.311;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:BOD1
5	175526022	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:FAM153B(NM_001079529:c.537-2A>C)
5	175526047	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:FAM153B:NM_001079529:exon10:c.C561A:p.N187K,;ANNO=splicing:FAM153B
5	175533593	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:FAM153B:NM_001079529:exon16:c.A862C:p.S288R,;ANNO=splicing:FAM153B
5	175774925	.	A	C	100	PASS	AC=20;STUDIES=6;MAC=20;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:KIAA1191:NM_020444:exon8:c.T708G:p.S236S,KIAA1191:NM_001079685:exon7:c.T708G:p.S236S,KIAA1191:NM_001079684:exon7:c.T651G:p.S217S,;ANNO=splicing:KIAA1191
5	175811233	.	C	T	100	PASS	AC=1506;STUDIES=20;MAC=1506;MAF=0.066;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NOP16:NM_016391:exon5:c.G536A:p.X179X,;ANNO=splicing:NOP16
5	176004401	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CDHR2:NM_001171976:exon13:c.G1196A:p.G399D,CDHR2:NM_017675:exon13:c.G1196A:p.G399D,;ANNO=splicing:CDHR2
5	176004799	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CDHR2:NM_001171976:exon14:c.C1512T:p.H504H,CDHR2:NM_017675:exon14:c.C1512T:p.H504H,;ANNO=splicing:CDHR2
5	176016618	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDHR2(NM_001171976:c.3206+1G>A,NM_017675:c.3206+1G>A)
5	176072243	.	C	T	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EIF4E1B:NM_001099408:exon7:c.C473T:p.T158M,;ANNO=splicing:EIF4E1B
5	176072518	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EIF4E1B(NM_001099408:c.614+1G>T)
5	176072868	.	C	T	100	PASS	AC=18;STUDIES=7;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EIF4E1B:NM_001099408:exon9:c.C616T:p.R206C,;ANNO=splicing:EIF4E1B
5	176079914	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TSPAN17:NM_001006616:exon4:c.C456T:p.Y152Y,TSPAN17:NM_012171:exon4:c.C456T:p.Y152Y,TSPAN17:NM_130465:exon4:c.C456T:p.Y152Y,;ANNO=splicing:TSPAN17
5	176306491	.	T	G	100	PASS	AC=31;STUDIES=2;MAC=31;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UNC5A(NM_133369:c.2363+2T>G)
5	176308303	.	C	T	100	PASS	AC=308;STUDIES=20;MAC=308;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HK3:NM_002115:exon18:c.G2627A:p.R876H,;ANNO=splicing:HK3
5	176317824	.	C	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HK3:NM_002115:exon5:c.G533C:p.R178T,;ANNO=splicing:HK3
5	176318038	.	C	T	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HK3:NM_002115:exon4:c.G414A:p.Q138Q,;ANNO=splicing:HK3
5	176385154	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UIMC1:NM_001199298:exon7:c.C1202T:p.S401F,UIMC1:NM_001199297:exon8:c.C1202T:p.S401F,UIMC1:NM_016290:exon7:c.C1202T:p.S401F,;ANNO=splicing:UIMC1
5	176409624	.	T	C	100	PASS	AC=140;STUDIES=10;MAC=140;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:UIMC1
5	176814875	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC34A1(NM_001167579:c.644+1G>A,NM_003052:c.644+1G>A)
5	176829461	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:F12(NM_000505:c.1680-1G>A)
5	176836047	.	C	T	100	PASS	AC=30;STUDIES=4;MAC=30;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:F12:NM_000505:exon2:c.G115A:p.V39I,;ANNO=splicing:F12
5	176859310	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GRK6:NM_001004105:exon4:c.C338A:p.T113K,GRK6:NM_001004106:exon4:c.C338A:p.T113K,GRK6:NM_002082:exon4:c.C338A:p.T113K,;ANNO=splicing:GRK6
5	176868054	.	A	G	100	PASS	AC=20;STUDIES=10;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GRK6:NM_001004105:exon15:c.A1677G:p.Q559Q,GRK6:NM_001004106:exon15:c.A1677G:p.Q559Q,GRK6:NM_002082:exon15:c.A1677G:p.Q559Q,;ANNO=splicing:GRK6
5	176915249	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PDLIM7:NM_203352:exon10:c.G768A:p.R256R,PDLIM7:NM_005451:exon10:c.G870A:p.R290R,;ANNO=splicing:PDLIM7
5	176919527	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDLIM7:NM_213636:exon3:c.G248C:p.R83T,PDLIM7:NM_203352:exon3:c.G248C:p.R83T,PDLIM7:NM_005451:exon3:c.G248C:p.R83T,;ANNO=splicing:PDLIM7
5	177023098	.	A	T	100	PASS	AC=867;STUDIES=2;MAC=867;MAF=0.464;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:TMED9
5	177163580	.	A	G	100	PASS	AC=297;STUDIES=4;MAC=297;MAF=0.102;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=4;ANNO=nonsynonymous:FAM153A:NM_173663:exon11:c.T433C:p.F145L,;ANNO=splicing:FAM153A
5	177574635	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RMND5B:NM_022762:exon9:c.C962T:p.P321L,;ANNO=splicing:RMND5B
5	177574637	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RMND5B(NM_022762:c.963+1G>T)
5	177574731	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RMND5B:NM_022762:exon10:c.T965C:p.I322T,;ANNO=splicing:RMND5B
5	177651448	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AGXT2L2(NM_153373:c.618+1G>A)
5	177675193	.	C	A	100	PASS	AC=14;STUDIES=8;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL23A1:NM_173465:exon20:c.G1212T:p.L404L,;ANNO=splicing:COL23A1
5	177683355	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL23A1:NM_173465:exon15:c.G881A:p.R294Q,;ANNO=splicing:COL23A1
5	177689216	.	A	G	100	PASS	AC=73;STUDIES=11;MAC=73;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL23A1(NM_173465:c.675+2T>C)
5	177690210	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL23A1:NM_173465:exon9:c.C638T:p.A213V,;ANNO=splicing:COL23A1
5	177694309	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL23A1:NM_173465:exon8:c.G521A:p.R174Q,;ANNO=splicing:COL23A1
5	177715325	.	C	T	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL23A1:NM_173465:exon5:c.G441A:p.P147P,;ANNO=splicing:COL23A1
5	178415937	.	A	G	100	PASS	AC=11423;STUDIES=21;MAC=10783;MAF=0.486;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:GRM6:NM_000843:exon6:c.T1353C:p.N451N,;ANNO=splicing:GRM6
5	178557098	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ADAMTS2:NM_014244:exon16:c.C2292T:p.A764A,;ANNO=splicing:ADAMTS2
5	178634715	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ADAMTS2:NM_021599:exon4:c.G690A:p.G230G,ADAMTS2:NM_014244:exon4:c.G690A:p.G230G,;ANNO=splicing:ADAMTS2
5	179043958	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:HNRNPH1:NM_005520:exon11:c.A1119G:p.E373E,;ANNO=splicing:HNRNPH1
5	179200897	.	G	A	100	PASS	AC=35;STUDIES=5;MAC=35;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MAML1:NM_014757:exon5:c.G2070A:p.G690G,;ANNO=splicing:MAML1
5	179222858	.	G	A	100	PASS	AC=28;STUDIES=6;MAC=28;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LTC4S(NM_145867:c.229+1G>A)
5	179225434	.	T	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MGAT4B:NM_014275:exon13:c.A1423C:p.N475H,MGAT4B:NM_054013:exon12:c.A1468C:p.N490H,;ANNO=splicing:MGAT4B
5	179226507	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MGAT4B:NM_014275:exon9:c.C1040T:p.A347V,MGAT4B:NM_054013:exon8:c.C1085T:p.A362V,;ANNO=splicing:MGAT4B
5	179228694	.	T	C	100	PASS	AC=85;STUDIES=13;MAC=85;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MGAT4B:NM_014275:exon3:c.A284G:p.E95G,MGAT4B:NM_054013:exon2:c.A329G:p.E110G,;ANNO=splicing:MGAT4B
5	179280379	.	T	C	100	PASS	AC=15146;STUDIES=22;MAC=9144;MAF=0.376;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C5orf45:NM_001017987:exon2:c.A125G:p.Q42R,C5orf45:NM_016175:exon2:c.A125G:p.Q42R,;ANNO=splicing:C5orf45
5	179291128	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TBC1D9B:NM_198868:exon22:c.G3073A:p.E1025K,TBC1D9B:NM_015043:exon21:c.G3022A:p.E1008K,;ANNO=splicing:TBC1D9B
5	179302921	.	C	T	100	PASS	AC=524;STUDIES=22;MAC=524;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TBC1D9B:NM_198868:exon11:c.G1899A:p.V633V,TBC1D9B:NM_015043:exon11:c.G1899A:p.V633V,;ANNO=splicing:TBC1D9B
5	179306048	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TBC1D9B:NM_198868:exon9:c.C1566T:p.S522S,TBC1D9B:NM_015043:exon9:c.C1566T:p.S522S,;ANNO=splicing:TBC1D9B
5	179394009	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RNF130:NM_018434:exon7:c.C947T:p.P316L,;ANNO=splicing:RNF130
5	179674439	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MAPK9:NM_139068:exon7:c.C688T:p.H230Y,MAPK9:NM_001135044:exon7:c.C688T:p.R230C,MAPK9:NM_002752:exon7:c.C688T:p.H230Y,;ANNO=splicing:MAPK9
5	179675974	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MAPK9:NM_139070:exon6:c.C615T:p.N205N,MAPK9:NM_139068:exon6:c.C615T:p.N205N,MAPK9:NM_139069:exon6:c.C615T:p.N205N,MAPK9:NM_001135044:exon6:c.C615T:p.N205N,MAPK9:NM_002752:exon6:c.C615T:p.N205N,;ANNO=splicing:MAPK9
5	179996111	.	C	T	100	PASS	AC=21374;STUDIES=22;MAC=2924;MAF=0.120;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CNOT6:NM_015455:exon10:c.C1029T:p.S343S,;ANNO=splicing:CNOT6
5	180167058	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OR2Y1:NM_001001657:exon1:c.A1T:p.M1L,;ANNO=splicing:OR2Y1
5	180480316	.	G	A	100	PASS	AC=23;STUDIES=4;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BTNL9:NM_152547:exon5:c.G853A:p.E285K,;ANNO=splicing:BTNL9
5	180485353	.	G	A	100	PASS	AC=1236;STUDIES=22;MAC=1236;MAF=0.051;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BTNL9:NM_152547:exon10:c.G957A:p.E319E,;ANNO=splicing:BTNL9
5	180661174	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRIM41:NM_033549:exon6:c.T1292C:p.V431A,TRIM41:NM_201627:exon6:c.T1292C:p.V431A,;ANNO=splicing:TRIM41
5	180684497	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRIM52(NM_032765:c.813-2A>G)
6	405130	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IRF4:NM_001195286:exon8:c.C1209T:p.H403H,IRF4:NM_002460:exon8:c.C1212T:p.H404H,;ANNO=splicing:IRF4
6	572644	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EXOC2:NM_018303:exon13:c.C1319T:p.T440M,;ANNO=splicing:EXOC2
6	2675282	.	T	C	100	PASS	AC=25;STUDIES=10;MAC=25;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYLK4:NM_001012418:exon11:c.A1118G:p.Q373R,;ANNO=splicing:MYLK4
6	2679642	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MYLK4:NM_001012418:exon9:c.A759G:p.R253R,;ANNO=splicing:MYLK4
6	2680526	.	C	T	100	PASS	AC=14;STUDIES=2;MAC=14;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYLK4(NM_001012418:c.687-1G>A)
6	2693092	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYLK4:NM_001012418:exon3:c.C161T:p.A54V,;ANNO=splicing:MYLK4
6	2954942	.	G	T	100	PASS	AC=19;STUDIES=10;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SERPINB6:NM_001195291:exon5:c.C314A:p.S105Y,SERPINB6:NM_004568:exon4:c.C314A:p.S105Y,;ANNO=splicing:SERPINB6
6	3012778	.	G	A	100	PASS	AC=583;STUDIES=21;MAC=583;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NQO2:NM_000904:exon4:c.G173A:p.G58D,;ANNO=splicing:NQO2
6	3127644	.	T	C	100	PASS	AC=546;STUDIES=9;MAC=546;MAF=0.049;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BPHL(NM_004332:c.378+2T>C)
6	3129280	.	C	T	100	PASS	AC=76;STUDIES=8;MAC=76;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BPHL:NM_004332:exon4:c.C380T:p.A127V,;ANNO=splicing:BPHL
6	3140742	.	C	T	100	PASS	AC=77;STUDIES=7;MAC=77;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BPHL:NM_004332:exon6:c.C787T:p.R263W,;ANNO=splicing:BPHL
6	3140743	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BPHL:NM_004332:exon6:c.G788A:p.R263Q,;ANNO=splicing:BPHL
6	3287093	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC22A23:NM_021945:exon8:c.C703T:p.L235L,SLC22A23:NM_015482:exon7:c.C1546T:p.L516L,;ANNO=splicing:SLC22A23
6	4116262	.	G	A	100	PASS	AC=7461;STUDIES=22;MAC=7461;MAF=0.308;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:ECI2:NM_206836:exon10:c.C1031T:p.A344V,ECI2:NM_006117:exon10:c.C941T:p.A314V,ECI2:NM_001166010:exon10:c.C941T:p.A314V,;ANNO=splicing:ECI2
6	4122279	.	A	G	100	PASS	AC=227;STUDIES=11;MAC=227;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C6orf201:NM_001085401:exon4:c.A381G:p.T127T,;ANNO=splicing:C6orf201
6	4130719	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ECI2:NM_206836:exon4:c.C388G:p.P130A,ECI2:NM_006117:exon4:c.C298G:p.P100A,ECI2:NM_001166010:exon4:c.C298G:p.P100A,;ANNO=splicing:C6orf201
6	4131101	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ECI2(NM_001166010:c.123-2A>G,NM_006117:c.123-2A>G,NM_206836:c.213-2A>G)
6	5000043	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RPP40:NM_006638:exon4:c.A433G:p.I145V,;ANNO=splicing:RPP40
6	6305771	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:F13A1:NM_000129:exon3:c.G132T:p.E44D,;ANNO=splicing:F13A1
6	6589102	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LY86:NM_004271:exon1:c.C135T:p.C45C,;ANNO=splicing:LY86
6	7402881	.	A	G	100	PASS	AC=52;STUDIES=14;MAC=52;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RIOK1:NM_031480:exon7:c.A619G:p.I207V,;ANNO=splicing:RIOK1
6	7559632	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DSP:NM_001008844:exon4:c.G596A:p.R199K,DSP:NM_004415:exon4:c.G596A:p.R199K,;ANNO=splicing:DSP
6	7576527	.	G	A	100	PASS	AC=18324;STUDIES=21;MAC=5378;MAF=0.227;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:DSP:NM_001008844:exon19:c.G2631A:p.R877R,DSP:NM_004415:exon19:c.G2631A:p.R877R,;ANNO=splicing:DSP
6	7602857	.	C	T	100	PASS	AC=3015;STUDIES=21;MAC=3015;MAF=0.128;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SNRNP48:NM_152551:exon6:c.C597T:p.D199D,;ANNO=splicing:SNRNP48
6	7904807	.	G	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:TXNDC5:NM_030810:exon2:c.C413T:p.T138I,TXNDC5:NM_001145549:exon2:c.C89T:p.T30I,;ANNO=nonsynonymous:TXNDC5:NM_030810:exon2:c.C413A:p.T138N,TXNDC5:NM_001145549:exon2:c.C89A:p.T30N,;ANNO=splicing:TXNDC5;ANNO=splicing:TXNDC5
6	8421060	.	T	A	100	PASS	AC=112;STUDIES=6;MAC=112;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC35B3:NM_001142541:exon6:c.A576T:p.G192G,SLC35B3:NM_015948:exon6:c.A576T:p.G192G,SLC35B3:NM_001142540:exon6:c.A576T:p.G192G,;ANNO=splicing:SLC35B3
6	10694725	.	A	G	100	PASS	AC=28;STUDIES=2;MAC=28;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C6orf52
6	10695188	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PAK1IP1
6	10702799	.	G	A	100	PASS	AC=277;STUDIES=20;MAC=277;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PAK1IP1:NM_017906:exon4:c.G370A:p.G124R,;ANNO=splicing:PAK1IP1
6	10747996	.	T	C	100	PASS	AC=62;STUDIES=2;MAC=62;MAF=0.033;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:TMEM14B
6	10926573	.	T	C	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SYCP2L:NM_001040274:exon16:c.T1220C:p.M407T,;ANNO=splicing:SYCP2L
6	10964015	.	G	A	100	PASS	AC=359;STUDIES=20;MAC=359;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SYCP2L:NM_001040274:exon29:c.G2415A:p.R805R,;ANNO=splicing:SYCP2L
6	11766607	.	A	T	100	PASS	AC=233;STUDIES=12;MAC=233;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C6orf105:NM_001143948:exon4:c.T344A:p.F115Y,C6orf105:NM_032744:exon3:c.T290A:p.F97Y,;ANNO=splicing:C6orf105
6	11768482	.	C	T	100	PASS	AC=39;STUDIES=13;MAC=39;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C6orf105:NM_001143948:exon3:c.G342A:p.T114T,C6orf105:NM_032744:exon2:c.G288A:p.T96T,;ANNO=splicing:C6orf105
6	11770262	.	A	G	100	PASS	AC=27;STUDIES=3;MAC=27;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C6orf105(NM_001143948:c.207+2T>C)
6	13591902	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SIRT5:NM_001193267:exon5:c.C251G:p.T84S,SIRT5:NM_031244:exon5:c.C251G:p.T84S,;ANNO=splicing:SIRT5
6	13625996	.	C	T	100	PASS	AC=16;STUDIES=8;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RANBP9:NM_005493:exon13:c.G1948A:p.D650N,;ANNO=splicing:RANBP9
6	15533469	.	G	A	100	PASS	AC=339;STUDIES=10;MAC=339;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DTNBP1(NM_032122:c.667+2C>T,NM_183040:c.667+2C>T)
6	15615499	.	T	G	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DTNBP1:NM_032122:exon6:c.A487C:p.R163R,DTNBP1:NM_183040:exon6:c.A487C:p.R163R,;ANNO=splicing:DTNBP1
6	15638035	.	C	T	100	PASS	AC=17;STUDIES=8;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:DTNBP1:NM_032122:exon4:c.G162C:p.R54S,DTNBP1:NM_183040:exon4:c.G162C:p.R54S,;ANNO=synonymous:DTNBP1:NM_032122:exon4:c.G162A:p.R54R,DTNBP1:NM_183040:exon4:c.G162A:p.R54R,;ANNO=splicing:DTNBP1;ANNO=splicing:DTNBP1
6	16290693	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GMPR:NM_006877:exon8:c.G698C:p.G233A,;ANNO=splicing:GMPR
6	17541205	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CAP2:NM_006366:exon9:c.G828A:p.G276G,;ANNO=splicing:CAP2
6	17616926	.	C	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NUP153:NM_005124:exon21:c.G4175C:p.S1392T,;ANNO=splicing:NUP153
6	17781532	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIF13A:NM_022113:exon30:c.C3545T:p.A1182V,KIF13A:NM_001105568:exon29:c.C3506T:p.A1169V,KIF13A:NM_001105566:exon30:c.C3545T:p.A1182V,KIF13A:NM_001105567:exon29:c.C3506T:p.A1169V,;ANNO=splicing:KIF13A
6	18161559	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:KDM1B:NM_153042:exon4:c.C89T:p.A30V,;ANNO=splicing:KDM1B
6	18207760	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KDM1B:NM_153042:exon12:c.A1095G:p.P365P,;ANNO=splicing:KDM1B
6	20212368	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:MBOAT1:NM_001080480:exon1:c.A98G:p.Q33R,;ANNO=splicing:MBOAT1
6	20486920	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:E2F3:NM_001949:exon5:c.G885A:p.R295R,;ANNO=splicing:E2F3
6	22294812	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PRL:NM_000948:exon2:c.G30T:p.G10G,PRL:NM_001163558:exon3:c.G30T:p.G10G,;ANNO=splicing:PRL
6	24423277	.	T	C	100	PASS	AC=23;STUDIES=11;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:MRS2:NM_020662:exon10:c.T1220C:p.M407T,;ANNO=splicing:MRS2
6	24445774	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPLD1:NM_001503:exon20:c.G2020A:p.D674N,;ANNO=splicing:GPLD1
6	24445775	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GPLD1:NM_001503:exon20:c.C2019T:p.Y673Y,;ANNO=splicing:GPLD1
6	24450017	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GPLD1:NM_001503:exon15:c.A1446G:p.K482K,;ANNO=splicing:GPLD1
6	24460508	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:GPLD1:NM_001503:exon12:c.C1007T:p.P336L,;ANNO=nonsynonymous:GPLD1:NM_001503:exon12:c.C1007G:p.P336R,;ANNO=splicing:GPLD1;ANNO=splicing:GPLD1
6	24467502	.	C	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPLD1:NM_001503:exon8:c.G546T:p.W182C,;ANNO=splicing:GPLD1
6	24780892	.	A	C	100	PASS	AC=1611;STUDIES=21;MAC=1611;MAF=0.072;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:GMNN:NM_015895:exon3:c.A53C:p.N18T,;ANNO=splicing:GMNN
6	25471485	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRRC16A:NM_017640:exon10:c.C779T:p.T260I,LRRC16A:NM_001173977:exon10:c.C779T:p.T260I,;ANNO=splicing:LRRC16A
6	25515904	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LRRC16A:NM_017640:exon21:c.C1634T:p.P545L,LRRC16A:NM_001173977:exon21:c.C1634T:p.P545L,;ANNO=splicing:LRRC16A
6	25669794	.	G	A	100	PASS	AC=58;STUDIES=7;MAC=58;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCGN:NM_006998:exon5:c.G392A:p.R131H,;ANNO=splicing:SCGN
6	25691352	.	G	A	100	PASS	AC=112;STUDIES=15;MAC=112;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SCGN:NM_006998:exon10:c.G702A:p.Q234Q,;ANNO=splicing:SCGN
6	25773902	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC17A4:NM_005495:exon8:c.T987C:p.D329D,;ANNO=splicing:SLC17A4
6	25918714	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC17A2(NM_005835:c.649+1G>A)
6	25924134	.	C	T	100	PASS	AC=155;STUDIES=19;MAC=155;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC17A2:NM_005835:exon3:c.G29A:p.G10D,;ANNO=splicing:SLC17A2
6	26020718	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HIST1H3A:NM_003529:exon1:c.A1G:p.M1V,;ANNO=splicing:HIST1H3A
6	26056699	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:HIST1H1C
6	26108363	.	T	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:HIST1H1T
6	26225383	.	A	G	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:HIST1H3E:NM_003532:exon1:c.A1G:p.M1V,;ANNO=splicing:HIST1H3E
6	26368279	.	G	A	100	PASS	AC=226;STUDIES=3;MAC=226;MAF=0.109;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:BTN3A2
6	26370833	.	T	G	100	PASS	AC=816;STUDIES=16;MAC=816;MAF=0.043;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;HWE_FAILURES=1;ANNO=splicing:BTN3A2(NM_001197249:c.589+2T>G,NM_001197247:c.715+2T>G,NM_007047:c.715+2T>G,NM_001197248:c.646+2T>G,NM_001197246:c.715+2T>G)
6	26373642	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BTN3A2(NM_001197249:c.838+1G>A,NM_001197247:c.964+1G>A,NM_007047:c.964+1G>A,NM_001197248:c.895+1G>A,NM_001197246:c.964+1G>A)
6	26390439	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BTN2A2:NM_006995:exon5:c.C931G:p.Q311E,BTN2A2:NM_001197238:exon5:c.C931G:p.Q311E,BTN2A2:NM_001197239:exon3:c.C301G:p.Q101E,BTN2A2:NM_001197237:exon5:c.C931G:p.Q311E,BTN2A2:NM_181531:exon4:c.C583G:p.Q195E,BTN2A2:NM_001197240:exon4:c.C649G:p.Q217E,;ANNO=splicing:BTN2A2
6	26392603	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:BTN2A2:NM_006995:exon8:c.C980T:p.A327V,BTN2A2:NM_001197239:exon6:c.C350T:p.A117V,BTN2A2:NM_001197237:exon8:c.C980T:p.A327V,BTN2A2:NM_181531:exon7:c.C632T:p.A211V,;ANNO=splicing:BTN2A2
6	26453642	.	T	G	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=splicing:BTN3A3
6	26466202	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BTN2A1(NM_001197234:c.955+1G>A,NM_078476:c.955+1G>A,NM_007049:c.955+1G>A,NM_001197233:c.772+1G>A)
6	26508197	.	C	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BTN1A1:NM_001732:exon5:c.C879T:p.L293L,;ANNO=splicing:BTN1A1
6	26508290	.	A	G	100	PASS	AC=79;STUDIES=17;MAC=79;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BTN1A1:NM_001732:exon6:c.A882G:p.K294K,;ANNO=splicing:BTN1A1
6	26508729	.	T	C	100	PASS	AC=33;STUDIES=4;MAC=33;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BTN1A1:NM_001732:exon7:c.T908C:p.V303A,;ANNO=splicing:BTN1A1
6	27100096	.	G	A	100	PASS	AC=364;STUDIES=6;MAC=364;MAF=0.100;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:HIST1H2BJ
6	27840926	.	T	C	100	PASS	AC=340;STUDIES=7;MAC=340;MAF=0.063;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:HIST1H4L
6	28130359	.	A	G	100	PASS	AC=19;STUDIES=2;MAC=19;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ZNF389
6	28214748	.	A	G	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZKSCAN4:NM_019110:exon4:c.T777C:p.L259L,;ANNO=splicing:ZKSCAN4
6	28295310	.	C	G	100	PASS	AC=591;STUDIES=18;MAC=591;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF323:NM_145909:exon7:c.G382C:p.A128P,ZNF323:NM_030899:exon3:c.G382C:p.A128P,ZNF323:NM_001135216:exon3:c.G382C:p.A128P,ZNF323:NM_001135215:exon7:c.G382C:p.A128P,;ANNO=splicing:ZNF323
6	28309569	.	T	G	100	PASS	AC=417;STUDIES=2;MAC=417;MAF=0.294;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:ZNF323
6	28474088	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GPX6(NM_182701:c.359+1G>A)
6	28499674	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GPX5(NM_001509:c.359+2T>A)
6	28966512	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF311:NM_001010877:exon6:c.A414G:p.P138P,;ANNO=splicing:ZNF311
6	28971291	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF311:NM_001010877:exon3:c.C90T:p.S30S,;ANNO=splicing:ZNF311
6	29691303	.	G	A	100	PASS	AC=2593;STUDIES=18;MAC=2593;MAF=0.137;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HLA-F:NM_018950:exon1:c.G63A:p.A21A,HLA-F:NM_001098478:exon1:c.G63A:p.A21A,HLA-F:NM_001098479:exon1:c.G63A:p.A21A,;ANNO=splicing:HLA-F
6	29691951	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HLA-F:NM_018950:exon3:c.G336A:p.G112G,HLA-F:NM_001098478:exon3:c.G336A:p.G112G,HLA-F:NM_001098479:exon3:c.G336A:p.G112G,;ANNO=splicing:HLA-F
6	29797591	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:HLA-G(NM_002127:c.895-2A>G)
6	29910402	.	G	A	100	PASS	AC=2328;STUDIES=19;MAC=2328;MAF=0.110;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:HLA-A:NM_002116:exon1:c.G72A:p.P24P,;ANNO=splicing:HLA-A
6	29910403	.	G	C	100	PASS	AC=24;STUDIES=2;MAC=24;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:HLA-A:NM_002116:exon1:c.C73C:p.L25L,;ANNO=splicing:HLA-A
6	29911319	.	G	T	100	PASS	AC=635;STUDIES=4;MAC=635;MAF=0.212;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;SNP_ON_RIGHT;HWE_FAILURES=10;ANNO=synonymous:HLA-A:NM_002116:exon3:c.G618T:p.V206V,;ANNO=splicing:HLA-A
6	29911320	.	G	T	100	PASS	AC=120;STUDIES=3;MAC=120;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:HLA-A:NM_002116:exon3:c.C619T:p.L207L,;ANNO=splicing:HLA-A
6	29912395	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:HLA-A(NM_001242758:c.1012+2T>G,NM_002116:c.1012+2T>G)
6	29912836	.	A	T	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:HLA-A:NM_002116:exon6:c.T1013T:p.V338V,;ANNO=splicing:HLA-A
6	30115320	.	G	T	100	PASS	AC=133;STUDIES=11;MAC=133;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRIM40(NM_138700:c.602+1G>T)
6	30126177	.	G	A	100	PASS	AC=392;STUDIES=17;MAC=392;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRIM10:NM_006778:exon3:c.C755T:p.T252M,TRIM10:NM_052828:exon3:c.C755T:p.T252M,;ANNO=splicing:TRIM10
6	30313268	.	G	A	100	PASS	AC=4285;STUDIES=18;MAC=4285;MAF=0.229;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TRIM39-RPP21:NM_001199119:exon8:c.G1206A:p.R402R,RPP21:NM_024839:exon3:c.G159A:p.R53R,RPP21:NM_001199120:exon3:c.G183A:p.R61R,RPP21:NM_001199121:exon3:c.G159A:p.R53R,;ANNO=splicing:RPP21,TRIM39-RPP21
6	30520955	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GNL1:NM_005275:exon7:c.C810T:p.V270V,;ANNO=splicing:GNL1
6	30553768	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABCF1:NM_001025091:exon17:c.G1713A:p.A571A,ABCF1:NM_001090:exon16:c.G1599A:p.A533A,;ANNO=splicing:ABCF1
6	30587699	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MRPS18B:NM_014046:exon4:c.G287A:p.R96H,;ANNO=splicing:MRPS18B
6	30638813	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DHX16:NM_003587:exon2:c.G446A:p.G149E,DHX16:NM_001164239:exon2:c.G266A:p.G89E,;ANNO=splicing:DHX16
6	30679445	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MDC1:NM_014641:exon6:c.A2127G:p.E709E,;ANNO=splicing:MDC1
6	30712327	.	G	A	100	PASS	AC=35;STUDIES=2;MAC=35;MAF=0.079;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:IER3
6	30879922	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GTF2H4:NM_001517:exon10:c.G957A:p.T319T,;ANNO=splicing:GTF2H4
6	30883231	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VARS2:NM_020442:exon4:c.A383G:p.Q128R,VARS2:NM_001167734:exon4:c.A473G:p.Q158R,;ANNO=splicing:VARS2
6	30888212	.	A	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VARS2:NM_001167733:exon13:c.A976G:p.S326G,VARS2:NM_020442:exon14:c.A1396G:p.S466G,VARS2:NM_001167734:exon14:c.A1486G:p.S496G,;ANNO=splicing:VARS2
6	30890483	.	G	T	100	PASS	AC=6540;STUDIES=18;MAC=6540;MAF=0.344;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VARS2:NM_001167733:exon21:c.G1618T:p.V540L,VARS2:NM_020442:exon22:c.G2038T:p.V680L,VARS2:NM_001167734:exon22:c.G2128T:p.V710L,;ANNO=splicing:VARS2
6	30892129	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VARS2(NM_020442:c.2466-2A>G,NM_001167733:c.2046-2A>G,NM_001167734:c.2556-2A>G)
6	30893887	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:VARS2:NM_001167733:exon29:c.T2672G:p.L891R,VARS2:NM_020442:exon30:c.T3092G:p.L1031R,VARS2:NM_001167734:exon30:c.T3182G:p.L1061R,;ANNO=splicing:VARS2
6	30899571	.	C	T	100	PASS	AC=3282;STUDIES=18;MAC=3282;MAF=0.172;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SFTA2:NM_205854:exon2:c.G63A:p.G21G,;ANNO=splicing:SFTA2
6	31106236	.	G	A	100	PASS	AC=104;STUDIES=14;MAC=104;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PSORS1C1:NM_014068:exon4:c.G43A:p.G15S,;ANNO=splicing:PSORS1C1
6	31118898	.	A	T	100	PASS	AC=1642;STUDIES=18;MAC=1642;MAF=0.087;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:CCHCR1:NM_001105563:exon5:c.T695A:p.L232Q,CCHCR1:NM_019052:exon5:c.T536A:p.L179Q,CCHCR1:NM_001105564:exon5:c.T803A:p.L268Q,;ANNO=splicing:CCHCR1
6	31237162	.	C	G	100	PASS	AC=13959;STUDIES=18;MAC=5483;MAF=0.282;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HLA-C:NM_002117:exon7:c.C1049C:p.A350A,;ANNO=splicing:HLA-C
6	31237862	.	T	C	100	PASS	AC=2489;STUDIES=19;MAC=2489;MAF=0.116;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;SNP_ON_LEFT;HWE_FAILURES=1;ANNO=synonymous:HLA-C:NM_002117:exon5:c.G896G:p.W299W,;ANNO=splicing:HLA-C
6	31237987	.	C	T	100	PASS	AC=1381;STUDIES=15;MAC=1381;MAF=0.080;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;HWE_FAILURES=2;ANNO=nonsynonymous:HLA-C:NM_002117:exon4:c.T895A:p.W299R,;ANNO=splicing:HLA-C
6	31238851	.	T	C	100	PASS	AC=13525;STUDIES=16;MAC=4849;MAF=0.264;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=stoploss:HLA-C:NM_002117:exon3:c.A618G:p.X206W,;ANNO=splicing:HLA-C
6	31239124	.	C	A	100	PASS	AC=138;STUDIES=3;MAC=138;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:HLA-C:NM_002117:exon3:c.C345T:p.S115S,;ANNO=splicing:HLA-C
6	31239376	.	C	T	100	PASS	AC=766;STUDIES=16;MAC=766;MAF=0.045;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:HLA-C:NM_002117:exon2:c.T343A:p.S115T,;ANNO=splicing:HLA-C
6	31239776	.	A	C	100	PASS	AC=4815;STUDIES=17;MAC=4815;MAF=0.277;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:HLA-C:NM_002117:exon1:c.C73G:p.P25A,;ANNO=splicing:HLA-C
6	31322303	.	C	G	100	PASS	AC=12156;STUDIES=22;MAC=11956;MAF=0.496;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HLA-B:NM_005514:exon7:c.G1046C:p.C349S,;ANNO=splicing:HLA-B
6	31322885	.	T	A	100	PASS	AC=68;STUDIES=2;MAC=68;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:HLA-B:NM_005514:exon5:c.A1011T:p.S337S,;ANNO=splicing:HLA-B
6	31323945	.	A	C	100	PASS	AC=7962;STUDIES=12;MAC=1722;MAF=0.178;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=7;ANNO=synonymous:HLA-B:NM_005514:exon3:c.T618G:p.A206A,;ANNO=splicing:HLA-B
6	31324465	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HLA-B:NM_005514:exon2:c.G343A:p.G115R,;ANNO=splicing:HLA-B
6	31324864	.	G	A	100	PASS	AC=895;STUDIES=16;MAC=895;MAF=0.054;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:HLA-B:NM_005514:exon1:c.C72T:p.A24A,;ANNO=splicing:HLA-B
6	31378575	.	G	A	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MICA(NM_000247:c.325+1G>A,NM_001177519:c.325+1G>A)
6	31549407	.	C	T	100	PASS	AC=52;STUDIES=2;MAC=52;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LTB:NM_009588:exon2:c.G163A:p.G55S,LTB:NM_002341:exon3:c.G209A:p.G70E,;ANNO=splicing:LTB
6	31556295	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LST1:NM_205840:exon3:c.G113A:p.G38D,LST1:NM_007161:exon4:c.G157A:p.A53T,LST1:NM_205839:exon5:c.G136A:p.A46T,LST1:NM_205838:exon4:c.G43A:p.A15T,LST1:NM_001166538:exon3:c.G64A:p.A22T,LST1:NM_205837:exon4:c.G134A:p.G45D,;ANNO=splicing:LST1
6	31584119	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AIF1:NM_004847:exon3:c.A231G:p.P77P,;ANNO=splicing:AIF1(NM_001623:c.196-2A>G,NM_032955:c.34-2A>G)
6	31603525	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PRRC2A:NM_004638:exon24:c.A5540G:p.Q1847R,PRRC2A:NM_080686:exon24:c.A5540G:p.Q1847R,;ANNO=splicing:PRRC2A
6	31638728	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LY6G5B:NM_021221:exon1:c.A1G:p.M1V,;ANNO=splicing:LY6G5B
6	31647044	.	A	G	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LY6G5C:NM_025262:exon2:c.T123C:p.G41G,;ANNO=splicing:LY6G5C
6	31674736	.	G	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LY6G6F(NM_001003693:c.52+1G>T)
6	31692621	.	G	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:C6orf25:NM_138274:exon3:c.G508T:p.E170X,C6orf25:NM_025260:exon5:c.G640T:p.E214X,;ANNO=splicing:C6orf25
6	31701449	.	C	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:CLIC1:NM_001288:exon4:c.G276T:p.R92S,;ANNO=splicing:CLIC1
6	31711965	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MSH5:NM_025259:exon7:c.A587G:p.Q196R,;ANNO=splicing:MSH5(NM_172165:c.537-2A>G,NM_172166:c.537-2A>G,NM_002441:c.537-2A>G)
6	31807540	.	A	G	100	PASS	AC=138;STUDIES=2;MAC=138;MAF=0.097;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:C6orf48
6	31833650	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC44A4:NM_001178044:exon13:c.G1361A:p.R454H,SLC44A4:NM_025257:exon14:c.G1487A:p.R496H,SLC44A4:NM_001178045:exon14:c.G1259A:p.R420H,;ANNO=splicing:SLC44A4
6	31838588	.	C	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC44A4(NM_001178044:c.811+1G>A,NM_025257:c.937+1G>A,NM_001178045:c.709+1G>A)
6	31838589	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC44A4:NM_001178044:exon9:c.C811G:p.L271V,SLC44A4:NM_025257:exon10:c.C937G:p.L313V,SLC44A4:NM_001178045:exon10:c.C709G:p.L237V,;ANNO=splicing:SLC44A4
6	31838590	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC44A4:NM_001178044:exon9:c.C810T:p.A270A,SLC44A4:NM_025257:exon10:c.C936T:p.A312A,SLC44A4:NM_001178045:exon10:c.C708T:p.A236A,;ANNO=splicing:SLC44A4
6	31839339	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC44A4(NM_001178044:c.403-1G>C,NM_025257:c.529-1G>C,NM_001178045:c.301-1G>C)
6	31842296	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC44A4:NM_001178044:exon6:c.C344T:p.T115M,SLC44A4:NM_025257:exon7:c.C470T:p.T157M,SLC44A4:NM_001178045:exon7:c.C242T:p.T81M,;ANNO=splicing:SLC44A4
6	31856140	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EHMT2:NM_025256:exon11:c.G1407A:p.A469A,EHMT2:NM_006709:exon12:c.G1509A:p.A503A,;ANNO=splicing:EHMT2
6	31856846	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EHMT2:NM_006709:exon10:c.A1116G:p.G372G,;ANNO=splicing:EHMT2
6	31917333	.	C	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:CFB:NM_001710:exon10:c.C1407G:p.I469M,;ANNO=synonymous:CFB:NM_001710:exon10:c.C1407T:p.I469I,;ANNO=splicing:CFB;ANNO=splicing:CFB
6	31929164	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SKIV2L(NM_006929:c.789+1G>A)
6	31929325	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SKIV2L:NM_006929:exon9:c.A791T:p.E264V,;ANNO=splicing:SKIV2L
6	31938120	.	C	T	100	PASS	AC=441;STUDIES=20;MAC=441;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DOM3Z:NM_005510:exon5:c.G948A:p.R316R,;ANNO=splicing:DOM3Z
6	32017776	.	C	T	100	PASS	AC=57;STUDIES=12;MAC=57;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TNXB:NM_019105:exon27:c.G9432A:p.T3144T,;ANNO=splicing:TNXB
6	32053527	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TNXB:NM_019105:exon7:c.G3148A:p.D1050N,;ANNO=splicing:TNXB
6	32087734	.	A	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATF6B:NM_004381:exon9:c.T833A:p.V278E,ATF6B:NM_001136153:exon9:c.T824A:p.V275E,;ANNO=splicing:ATF6B
6	32150890	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AGER(NM_001136:c.508+1G>T,NM_001206954:c.508+1G>T,NM_001206940:c.508+1G>T,NM_172197:c.466+1G>T,NM_001206932:c.466+1G>T,NM_001206929:c.556+1G>T,NM_001206966:c.508+1G>T,NM_001206934:c.556+1G>T,NM_001206936:c.508+1G>T)
6	32183001	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NOTCH4(NM_004557:c.2021+2T>G)
6	32187906	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NOTCH4:NM_004557:exon7:c.G1315C:p.A439P,;ANNO=splicing:NOTCH4
6	32317517	.	C	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C6orf10:NM_006781:exon9:c.G349C:p.G117R,;ANNO=splicing:C6orf10
6	32339470	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C6orf10(NM_006781:c.13+1G>A)
6	32363816	.	T	C	100	PASS	AC=7193;STUDIES=17;MAC=7193;MAF=0.405;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:BTNL2:NM_019602:exon5:c.A1078G:p.S360G,;ANNO=splicing:BTNL2
6	32369562	.	C	G	100	PASS	AC=23;STUDIES=5;MAC=23;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BTNL2:NM_019602:exon4:c.G730C:p.A244P,;ANNO=splicing:BTNL2
6	32370993	.	C	T	100	PASS	AC=680;STUDIES=18;MAC=680;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BTNL2:NM_019602:exon3:c.G428A:p.G143D,;ANNO=splicing:BTNL2
6	32373064	.	C	T	100	PASS	AC=49;STUDIES=2;MAC=49;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BTNL2(NM_019602:c.79-1G>A)
6	32485853	.	C	T	100	PASS	AC=272;STUDIES=3;MAC=272;MAF=0.233;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;SNP_ON_RIGHT;HWE_FAILURES=15;ANNO=synonymous:HLA-DRB5:NM_002125:exon5:c.G765A:p.G255G,;ANNO=splicing:HLA-DRB5
6	32485856	.	T	C	100	PASS	AC=37;STUDIES=3;MAC=37;MAF=0.007;MULTIMAP_REVERSE;SNP_ON_LEFT;SNP_ON_RIGHT;DESIGN_FAILED;HWE_FAILURES=2;ANNO=splicing:HLA-DRB5(NM_002125:c.763-2A>G)
6	32487427	.	A	G	100	PASS	AC=1018;STUDIES=2;MAC=1018;MAF=0.427;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;HWE_FAILURES=5;ANNO=synonymous:HLA-DRB5:NM_002125:exon3:c.T372C:p.V124V,;ANNO=splicing:HLA-DRB5
6	32497900	.	A	G	100	PASS	AC=105;STUDIES=4;MAC=105;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;SNP_ON_RIGHT;ANNO=splicing:HLA-DRB5(NM_002125:c.100+2T>C)
6	32548522	.	C	G	100	PASS	AC=306;STUDIES=4;MAC=306;MAF=0.041;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_REVERSE;SNP_ON_LEFT;ANNO=splicing:HLA-DRB1(NM_002124:c.763+1G>C)
6	32548632	.	T	A	100	PASS	AC=485;STUDIES=6;MAC=485;MAF=0.124;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;SNP_ON_LEFT;HWE_FAILURES=3;ANNO=nonsynonymous:HLA-DRB1:NM_002124:exon4:c.A654T:p.R218S,;ANNO=splicing:HLA-DRB1
6	32549614	.	G	A	100	PASS	AC=58;STUDIES=4;MAC=58;MAF=0.047;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;HWE_FAILURES=2;ANNO=synonymous:HLA-DRB1:NM_002124:exon3:c.C372T:p.V124V,;ANNO=splicing:HLA-DRB1
6	32551885	.	C	T	100	PASS	AC=28;STUDIES=2;MAC=28;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:HLA-DRB1(NM_002124:c.370+1G>A)
6	32551886	.	C	T	100	PASS	AC=29;STUDIES=2;MAC=29;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:HLA-DRB1:NM_002124:exon2:c.G370A:p.V124I,;ANNO=splicing:HLA-DRB1
6	32557418	.	A	G	100	PASS	AC=140;STUDIES=4;MAC=140;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;SNP_ON_RIGHT;ANNO=splicing:HLA-DRB1(NM_002124:c.100+2T>C)
6	32557419	.	C	G	100	PASS	AC=119;STUDIES=2;MAC=119;MAF=0.158;MULTIMAP_FORWARD;MULTIMAP_REVERSE;SNP_ON_LEFT;SNP_ON_RIGHT;DESIGN_FAILED;HWE_FAILURES=1;ANNO=splicing:HLA-DRB1(NM_002124:c.100+1G>C)
6	32781500	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HLA-DOB:NM_002120:exon4:c.G754A:p.G252R,;ANNO=splicing:HLA-DOB
6	32797177	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TAP2:NM_018833:exon11:c.C1932T:p.A644A,TAP2:NM_000544:exon11:c.C1932T:p.A644A,;ANNO=splicing:TAP2
6	32812056	.	C	T	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PSMB8:NM_004159:exon1:c.G135A:p.E45E,;ANNO=splicing:PSMB8
6	32906461	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HLA-DMB:NM_002118:exon2:c.C337T:p.R113W,;ANNO=splicing:HLA-DMB
6	33037419	.	G	A	100	PASS	AC=3607;STUDIES=12;MAC=3607;MAF=0.237;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:HLA-DPA1:NM_033554:exon2:c.G345T:p.L115F,;ANNO=splicing:HLA-DPA1
6	33048457	.	C	G	100	PASS	AC=1222;STUDIES=5;MAC=1222;MAF=0.218;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;HWE_FAILURES=3;ANNO=nonsynonymous:HLA-DPB1:NM_002121:exon2:c.C109G:p.L37V,;ANNO=splicing:HLA-DPA1
6	33141279	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:COL11A2:NM_080681:exon34:c.G2424A:p.P808P,COL11A2:NM_080680:exon36:c.G2682A:p.P894P,COL11A2:NM_080679:exon33:c.G2361A:p.P787P,;ANNO=splicing:COL11A2
6	33141280	.	G	A	100	PASS	AC=2442;STUDIES=21;MAC=2442;MAF=0.109;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:COL11A2:NM_080681:exon34:c.C2423T:p.P808L,COL11A2:NM_080680:exon36:c.C2681T:p.P894L,COL11A2:NM_080679:exon33:c.C2360T:p.P787L,;ANNO=splicing:COL11A2
6	33148889	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL11A2:NM_080681:exon7:c.C920T:p.P307L,COL11A2:NM_080680:exon9:c.C1178T:p.P393L,COL11A2:NM_080679:exon6:c.C857T:p.P286L,;ANNO=splicing:COL11A2
6	33153477	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL11A2(NM_080680:c.876+1G>T)
6	33164211	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RXRB:NM_021976:exon5:c.C993T:p.S331S,;ANNO=splicing:RXRB
6	33168716	.	G	A	100	PASS	AC=19;STUDIES=2;MAC=19;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC39A7
6	33169432	.	A	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC39A7:NM_006979:exon1:c.A410T:p.Y137F,SLC39A7:NM_001077516:exon2:c.A410T:p.Y137F,;ANNO=splicing:SLC39A7
6	33235099	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VPS52(NM_022553:c.991-1C>T)
6	33236966	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:VPS52:NM_022553:exon6:c.C373T:p.R125X,;ANNO=splicing:VPS52
6	33238059	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:VPS52:NM_022553:exon2:c.C92T:p.A31V,;ANNO=splicing:VPS52
6	33256471	.	T	C	100	PASS	AC=22306;STUDIES=22;MAC=1994;MAF=0.082;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WDR46:NM_001164267:exon3:c.A118G:p.T40A,WDR46:NM_005452:exon3:c.A280G:p.T94A,;ANNO=splicing:WDR46
6	33263806	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RGL2:NM_004761:exon6:c.C767T:p.A256V,;ANNO=splicing:RGL2
6	33380199	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PHF1:NM_024165:exon2:c.G159A:p.K53K,PHF1:NM_002636:exon2:c.G159A:p.K53K,;ANNO=splicing:PHF1
6	33384698	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CUTA:NM_001014838:exon5:c.C343T:p.R115C,CUTA:NM_015921:exon4:c.C343T:p.R115C,CUTA:NM_001014837:exon5:c.C343T:p.R115C,CUTA:NM_001014433:exon5:c.C469T:p.R157C,CUTA:NM_001014840:exon5:c.C412T:p.R138C,;ANNO=splicing:CUTA
6	33608330	.	T	C	100	PASS	AC=18;STUDIES=4;MAC=18;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ITPR3:NM_002224:exon2:c.T159C:p.R53R,;ANNO=splicing:ITPR3
6	33626605	.	C	T	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ITPR3:NM_002224:exon5:c.C528T:p.N176N,;ANNO=splicing:ITPR3
6	33635567	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:ITPR3(NM_002224:c.1713-2A>G)
6	33644792	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ITPR3:NM_002224:exon27:c.C3448T:p.R1150C,;ANNO=splicing:ITPR3
6	33648228	.	C	T	100	PASS	AC=20383;STUDIES=20;MAC=2215;MAF=0.098;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITPR3(NM_002224:c.4345+2C>T)
6	33657016	.	C	T	100	PASS	AC=24;STUDIES=6;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ITPR3:NM_002224:exon50:c.C6696T:p.G2232G,;ANNO=splicing:ITPR3
6	34208659	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:HMGA1:NM_145902:exon2:c.G102A:p.P34P,HMGA1:NM_145899:exon3:c.G102A:p.P34P,HMGA1:NM_145901:exon2:c.G102A:p.P34P,HMGA1:NM_145905:exon2:c.G102A:p.P34P,HMGA1:NM_002131:exon3:c.G102A:p.P34P,HMGA1:NM_145903:exon2:c.G102A:p.P34P,;ANNO=splicing:HMGA1
6	34835243	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UHRF1BP1:NM_017754:exon17:c.G3568T:p.V1190F,;ANNO=splicing:UHRF1BP1
6	34835392	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UHRF1BP1:NM_017754:exon17:c.A3717G:p.P1239P,;ANNO=splicing:UHRF1BP1
6	35050593	.	T	C	100	PASS	AC=149;STUDIES=16;MAC=149;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ANKS1A:NM_015245:exon18:c.T2835C:p.N945N,;ANNO=splicing:ANKS1A
6	35261693	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF76(NM_003427:c.1494+1G>A)
6	35430691	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:FANCE:NM_021922:exon9:c.C1509T:p.N503N,;ANNO=splicing:FANCE
6	35438558	.	C	T	100	PASS	AC=135;STUDIES=8;MAC=135;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=splicing:RPL10A
6	35467758	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TULP1:NM_003322:exon14:c.C1495T:p.P499S,;ANNO=splicing:TULP1
6	35477526	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TULP1:NM_003322:exon7:c.G603A:p.G201G,;ANNO=splicing:TULP1
6	35604934	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FKBP5:NM_001145777:exon3:c.T107C:p.I36T,FKBP5:NM_001145775:exon4:c.T107C:p.I36T,FKBP5:NM_004117:exon3:c.T107C:p.I36T,FKBP5:NM_001145776:exon3:c.T107C:p.I36T,;ANNO=splicing:FKBP5
6	35854500	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SRPK1(NM_003137:c.478+1G>A)
6	35927367	.	A	G	100	PASS	AC=98;STUDIES=7;MAC=98;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC26A8:NM_052961:exon16:c.T1733C:p.V578A,SLC26A8:NM_001193476:exon16:c.T1733C:p.V578A,SLC26A8:NM_138718:exon14:c.T1418C:p.V473A,;ANNO=splicing:SLC26A8
6	36104726	.	T	C	100	PASS	AC=32;STUDIES=5;MAC=32;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MAPK13:NM_002754:exon8:c.T681C:p.D227D,;ANNO=splicing:MAPK13
6	36106657	.	T	G	100	PASS	AC=57;STUDIES=17;MAC=57;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MAPK13:NM_002754:exon11:c.T843G:p.A281A,;ANNO=splicing:MAPK13
6	36168072	.	A	G	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BRPF3
6	36274153	.	C	T	100	PASS	AC=6743;STUDIES=22;MAC=6743;MAF=0.278;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:PNPLA1:NM_001145717:exon7:c.C1469T:p.T490M,PNPLA1:NM_001145716:exon7:c.C1211T:p.T404M,PNPLA1:NM_173676:exon7:c.C1184T:p.T395M,;ANNO=splicing:PNPLA1
6	36287134	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C6orf222:NM_001010903:exon11:c.C1922T:p.P641L,;ANNO=splicing:C6orf222
6	36294531	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C6orf222(NM_001010903:c.792-1G>A)
6	36353310	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ETV7(NM_001207039:c.142+1G>A,NM_001207035:c.142+1G>A,NM_016135:c.142+1G>A,NM_001207036:c.142+1G>A,NM_001207038:c.142+1G>A)
6	36442567	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KCTD20:NM_173562:exon3:c.C162A:p.D54E,;ANNO=splicing:KCTD20
6	36708556	.	C	G	100	PASS	AC=429;STUDIES=2;MAC=429;MAF=0.219;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:CPNE5
6	36712825	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=synonymous:CPNE5:NM_020939:exon18:c.C1431T:p.N477N,;ANNO=nonsynonymous:CPNE5:NM_020939:exon18:c.C1431A:p.N477K,;ANNO=splicing:CPNE5;ANNO=splicing:CPNE5
6	36746631	.	G	A	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CPNE5:NM_020939:exon9:c.C632T:p.T211M,;ANNO=splicing:CPNE5
6	36887476	.	C	T	100	PASS	AC=2438;STUDIES=22;MAC=2438;MAF=0.101;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C6orf89:NM_152734:exon7:c.C969T:p.I323I,;ANNO=splicing:C6orf89
6	36931598	.	G	A	100	PASS	AC=17;STUDIES=9;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PI16(NM_001199159:c.1270-1G>A,NM_153370:c.1270-1G>A)
6	36943435	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MTCH1:NM_014341:exon7:c.G760A:p.V254I,;ANNO=splicing:MTCH1
6	36946386	.	G	T	100	PASS	AC=19;STUDIES=5;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MTCH1:NM_014341:exon3:c.C408A:p.A136A,;ANNO=splicing:MTCH1
6	37182972	.	A	G	100	PASS	AC=48;STUDIES=4;MAC=48;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM217(NM_145316:c.690+2T>C)
6	37446185	.	G	A	100	PASS	AC=31;STUDIES=12;MAC=31;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FTSJD2:NM_015050:exon22:c.G2154A:p.R718R,;ANNO=splicing:FTSJD2
6	38560616	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BTBD9:NM_001172418:exon3:c.A373G:p.T125A,BTBD9:NM_001099272:exon4:c.A550G:p.T184A,BTBD9:NM_152733:exon3:c.A346G:p.T116A,BTBD9:NM_052893:exon5:c.A550G:p.T184A,;ANNO=splicing:BTBD9
6	38738337	.	T	C	100	PASS	AC=258;STUDIES=8;MAC=258;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNAH8(NM_001206927:c.1764+2T>C)
6	38820471	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAH8:NM_001206927:exon40:c.C5468T:p.P1823L,;ANNO=splicing:DNAH8
6	38828406	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNAH8(NM_001206927:c.6131+1G>A)
6	38867683	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNAH8(NM_001206927:c.9194+1G>A)
6	38877519	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAH8:NM_001206927:exon65:c.A9739G:p.R3247G,;ANNO=splicing:DNAH8
6	38957948	.	C	T	100	PASS	AC=21;STUDIES=7;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAH8:NM_001206927:exon88:c.C13214T:p.T4405M,;ANNO=splicing:DNAH8
6	39161946	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KCNK5:NM_003740:exon4:c.C633T:p.A211A,;ANNO=splicing:KCNK5
6	39607534	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIF6(NM_145027:c.251-1G>A)
6	39693021	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KIF6:NM_145027:exon1:c.G66A:p.G22G,;ANNO=splicing:KIF6
6	39864952	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DAAM2:NM_001201427:exon21:c.A2512C:p.N838H,DAAM2:NM_015345:exon21:c.A2512C:p.N838H,;ANNO=splicing:DAAM2
6	39881172	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MOCS1:NM_001075098:exon6:c.G646A:p.V216M,MOCS1:NM_005943:exon5:c.G646A:p.V216M,;ANNO=splicing:MOCS1
6	39893421	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MOCS1(NM_001075098:c.418+1G>A,NM_005943:c.418+1G>A)
6	41035176	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C6orf130:NM_145063:exon6:c.G357T:p.R119S,;ANNO=splicing:C6orf130
6	41036579	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C6orf130(NM_145063:c.356+1G>C)
6	41039015	.	T	C	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C6orf130:NM_145063:exon3:c.A40G:p.I14V,;ANNO=splicing:C6orf130
6	41065096	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NFYA:NM_002505:exon10:c.G991A:p.D331N,NFYA:NM_021705:exon9:c.G904A:p.D302N,;ANNO=splicing:NFYA
6	41117998	.	C	A	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:TREML1(NM_178174:c.621+1G>T);ANNO=splicing:TREML1(NM_178174:c.621+1G>A)
6	41118000	.	A	G	100	PASS	AC=45;STUDIES=12;MAC=45;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TREML1:NM_178174:exon5:c.T620C:p.M207T,;ANNO=splicing:TREML1
6	41127619	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TREM2:NM_018965:exon3:c.C393T:p.D131D,;ANNO=splicing:TREM2
6	41168693	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TREML2:NM_024807:exon1:c.A54G:p.S18S,;ANNO=splicing:TREML2
6	41303666	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NCR2:NM_004828:exon1:c.G52C:p.G18R,NCR2:NM_001199509:exon1:c.G52C:p.G18R,NCR2:NM_001199510:exon1:c.G52C:p.G18R,;ANNO=splicing:NCR2
6	41704743	.	C	T	100	PASS	AC=24;STUDIES=9;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PGC(NM_002630:c.1014-1G>A)
6	41712133	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PGC(NM_002630:c.328+2T>C,NM_001166424:c.328+2T>C)
6	42182017	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MRPS10(NM_018141:c.113+1G>A)
6	42224569	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRERF1:NM_033502:exon12:c.T2477C:p.V826A,;ANNO=splicing:TRERF1
6	42224839	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRERF1:NM_033502:exon11:c.C2338T:p.R780C,;ANNO=splicing:TRERF1
6	42571456	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UBR2:NM_001184801:exon5:c.T662C:p.V221A,UBR2:NM_015255:exon5:c.T662C:p.V221A,;ANNO=splicing:UBR2
6	42666244	.	A	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PRPH2:NM_000322:exon3:c.T830G:p.V277G,;ANNO=splicing:PRPH2
6	42933526	.	C	T	100	PASS	AC=1406;STUDIES=22;MAC=1406;MAF=0.059;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PEX6:NM_000287:exon13:c.G2364A:p.V788V,;ANNO=splicing:PEX6
6	42992724	.	C	G	100	PASS	AC=471;STUDIES=11;MAC=471;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RRP36:NM_033112:exon2:c.C132G:p.G44G,;ANNO=splicing:RRP36
6	43010920	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CUL7(NM_014780:c.3355-2A>C,NM_001168370:c.3607-2A>C)
6	43025971	.	T	C	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MRPL2:NM_015950:exon2:c.A97G:p.M33V,;ANNO=splicing:MRPL2
6	43100425	.	A	T	100	PASS	AC=299;STUDIES=17;MAC=299;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTK7:NM_152880:exon7:c.A1228T:p.T410S,PTK7:NM_152882:exon7:c.A1228T:p.T410S,PTK7:NM_152881:exon7:c.A1228T:p.N410Y,PTK7:NM_002821:exon7:c.A1228T:p.T410S,;ANNO=splicing:PTK7
6	43160945	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CUL9:NM_015089:exon9:c.C2387T:p.A796V,;ANNO=splicing:CUL9
6	43170558	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CUL9:NM_015089:exon17:c.C3752T:p.T1251M,;ANNO=splicing:CUL9
6	43173161	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CUL9:NM_015089:exon24:c.A4793G:p.Q1598R,;ANNO=splicing:CUL9
6	43193771	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C6orf108:NM_006443:exon3:c.G376A:p.V126M,C6orf108:NM_199184:exon3:c.G376A:p.G126S,;ANNO=splicing:C6orf108
6	43270151	.	C	T	100	PASS	AC=8881;STUDIES=22;MAC=8881;MAF=0.374;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC22A7:NM_006672:exon7:c.C1269T:p.S423S,SLC22A7:NM_153320:exon7:c.C1275T:p.S425S,;ANNO=splicing:SLC22A7
6	43403832	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ABCC10:NM_033450:exon4:c.T1638C:p.D546D,;ANNO=splicing:ABCC10
6	43415145	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCC10:NM_001198934:exon17:c.A3704G:p.Q1235R,ABCC10:NM_033450:exon15:c.A3620G:p.Q1207R,;ANNO=splicing:ABCC10
6	43415146	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ABCC10:NM_001198934:exon17:c.G3705A:p.Q1235Q,ABCC10:NM_033450:exon15:c.G3621A:p.Q1207Q,;ANNO=splicing:ABCC10
6	43475195	.	G	A	100	PASS	AC=221;STUDIES=11;MAC=221;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C6orf154:NM_001012974:exon5:c.C879T:p.S293S,;ANNO=splicing:C6orf154
6	43480938	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:YIPF3:NM_015388:exon6:c.C535T:p.R179W,;ANNO=splicing:YIPF3
6	43494424	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:XPO5:NM_020750:exon27:c.C2982T:p.D994D,;ANNO=splicing:XPO5
6	43496662	.	A	C	100	PASS	AC=6382;STUDIES=18;MAC=6382;MAF=0.391;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=3;ANNO=synonymous:XPO5:NM_020750:exon24:c.T2679G:p.R893R,;ANNO=splicing:XPO5
6	43515346	.	C	T	100	PASS	AC=27;STUDIES=10;MAC=27;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:XPO5:NM_020750:exon19:c.G2159A:p.R720Q,;ANNO=splicing:XPO5
6	43646255	.	G	A	100	PASS	AC=24;STUDIES=5;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MRPS18A:NM_001193343:exon3:c.C252T:p.D84D,MRPS18A:NM_018135:exon3:c.C252T:p.D84D,;ANNO=splicing:MRPS18A
6	43748593	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VEGFA(NM_001171623:c.545+2T>C,NM_001025366:c.1085+2T>C)
6	43968881	.	G	A	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C6orf223(NM_153246:c.208+1G>A,NM_001171992:c.251+1G>A)
6	44147355	.	G	A	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CAPN11(NM_007058:c.1416-1G>A)
6	44150755	.	A	T	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CAPN11:NM_007058:exon20:c.A2016T:p.A672A,;ANNO=splicing:CAPN11
6	44269200	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AARS2:NM_020745:exon20:c.C2600T:p.A867V,;ANNO=splicing:AARS2
6	44272382	.	C	T	100	PASS	AC=125;STUDIES=16;MAC=125;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AARS2:NM_020745:exon12:c.G1752A:p.E584E,;ANNO=splicing:AARS2
6	44361309	.	G	A	100	PASS	AC=229;STUDIES=21;MAC=229;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CDC5L:NM_001253:exon4:c.G438A:p.E146E,;ANNO=splicing:CDC5L
6	45289532	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SUPT3H(NM_181356:c.134+1G>T)
6	45289533	.	C	T	100	PASS	AC=24;STUDIES=4;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SUPT3H:NM_181356:exon4:c.G134A:p.R45K,;ANNO=splicing:SUPT3H
6	45296398	.	T	C	100	PASS	AC=21;STUDIES=3;MAC=21;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:RUNX2
6	46108789	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ENPP4:NM_014936:exon3:c.A827G:p.N276S,;ANNO=splicing:ENPP4
6	46630235	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC25A27:NM_001204051:exon4:c.G506A:p.R169Q,SLC25A27:NM_001204052:exon4:c.G506A:p.R169Q,SLC25A27:NM_004277:exon4:c.G506A:p.R169Q,;ANNO=splicing:SLC25A27
6	46638864	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC25A27:NM_001204051:exon8:c.G799A:p.G267R,SLC25A27:NM_004277:exon8:c.G799A:p.G267R,;ANNO=splicing:SLC25A27
6	46682291	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLA2G7(NM_005084:c.376-1G>C,NM_001168357:c.376-1G>C)
6	46690518	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLA2G7(NM_005084:c.109+2T>C,NM_001168357:c.109+2T>C)
6	46761313	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MEP1A:NM_005588:exon2:c.G94A:p.V32I,;ANNO=splicing:MEP1A
6	46802316	.	G	A	100	PASS	AC=316;STUDIES=19;MAC=316;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:MEP1A:NM_005588:exon12:c.G1611A:p.A537A,;ANNO=splicing:MEP1A
6	46851296	.	C	T	100	PASS	AC=342;STUDIES=18;MAC=342;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GPR116:NM_001098518:exon6:c.G612A:p.A204A,GPR116:NM_015234:exon6:c.G612A:p.A204A,;ANNO=splicing:GPR116
6	46867766	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:GPR116:NM_001098518:exon3:c.G157A:p.V53I,GPR116:NM_015234:exon3:c.G157A:p.V53I,;ANNO=splicing:GPR116
6	46867767	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:GPR116:NM_001098518:exon3:c.C156T:p.A52A,GPR116:NM_015234:exon3:c.C156T:p.A52A,;ANNO=splicing:GPR116
6	46988467	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPR110:NM_153840:exon7:c.G611A:p.R204Q,GPR110:NM_025048:exon7:c.G611A:p.R204Q,;ANNO=splicing:GPR110
6	47471175	.	A	C	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CD2AP:NM_012120:exon2:c.A164C:p.K55T,;ANNO=splicing:CD2AP
6	47591922	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CD2AP:NM_012120:exon18:c.A1879G:p.M627V,;ANNO=splicing:CD2AP
6	47658337	.	G	A	100	PASS	AC=44;STUDIES=3;MAC=44;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:GPR111
6	47869671	.	C	G	100	PASS	AC=35;STUDIES=3;MAC=35;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C6orf138:NM_207499:exon3:c.G908C:p.G303A,;ANNO=splicing:C6orf138
6	49415384	.	T	G	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MUT:NM_000255:exon8:c.A1559C:p.K520T,;ANNO=splicing:MUT
6	49580247	.	C	T	100	PASS	AC=731;STUDIES=22;MAC=731;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RHAG:NM_000324:exon6:c.G808A:p.V270I,;ANNO=splicing:RHAG
6	49663547	.	A	T	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CRISP2(NM_001142435:c.604+2T>A,NM_001142407:c.604+2T>A,NM_001142417:c.604+2T>A,NM_003296:c.604+2T>A,NM_001142408:c.604+2T>A)
6	49665670	.	G	C	100	PASS	AC=132;STUDIES=10;MAC=132;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CRISP2:NM_003296:exon8:c.C418G:p.L140V,CRISP2:NM_001142408:exon8:c.C418G:p.L140V,CRISP2:NM_001142417:exon8:c.C418G:p.L140V,CRISP2:NM_001142435:exon7:c.C418G:p.L140V,CRISP2:NM_001142407:exon7:c.C418G:p.L140V,;ANNO=splicing:CRISP2
6	49819844	.	T	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CRISP1(NM_001131:c.66-2A>C,NM_001205220:c.66-2A>C,NM_170609:c.66-2A>C)
6	51503753	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PKHD1:NM_138694:exon64:c.G11400A:p.G3800G,;ANNO=splicing:PKHD1
6	51776597	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PKHD1:NM_170724:exon39:c.G6490A:p.G2164S,PKHD1:NM_138694:exon39:c.G6490A:p.G2164S,;ANNO=splicing:PKHD1
6	51798908	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PKHD1:NM_170724:exon37:c.G6121A:p.G2041S,PKHD1:NM_138694:exon37:c.G6121A:p.G2041S,;ANNO=splicing:PKHD1
6	51799119	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PKHD1:NM_170724:exon37:c.G5910A:p.G1970G,PKHD1:NM_138694:exon37:c.G5910A:p.G1970G,;ANNO=splicing:PKHD1
6	51889373	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PKHD1:NM_170724:exon32:c.C5235T:p.F1745F,PKHD1:NM_138694:exon32:c.C5235T:p.F1745F,;ANNO=splicing:PKHD1
6	51892628	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PKHD1:NM_170724:exon31:c.G3627A:p.L1209L,PKHD1:NM_138694:exon31:c.G3627A:p.L1209L,;ANNO=splicing:PKHD1
6	51893148	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PKHD1:NM_170724:exon30:c.C3366T:p.G1122G,PKHD1:NM_138694:exon30:c.C3366T:p.G1122G,;ANNO=splicing:PKHD1
6	51914956	.	G	A	100	PASS	AC=11024;STUDIES=22;MAC=11024;MAF=0.453;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PKHD1:NM_170724:exon22:c.C2278T:p.R760C,PKHD1:NM_138694:exon22:c.C2278T:p.R760C,;ANNO=splicing:PKHD1
6	51947977	.	A	G	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PKHD1:NM_170724:exon3:c.T129C:p.D43D,PKHD1:NM_138694:exon3:c.T129C:p.D43D,;ANNO=splicing:PKHD1
6	52103527	.	C	A	100	PASS	AC=22;STUDIES=2;MAC=22;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:IL17F(NM_052872:c.254+1G>T);ANNO=splicing:IL17F(NM_052872:c.254+1G>A)
6	52103527	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:IL17F(NM_052872:c.254+1G>T);ANNO=splicing:IL17F(NM_052872:c.254+1G>A)
6	52272574	.	C	T	100	PASS	AC=207;STUDIES=2;MAC=207;MAF=0.117;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:PAQR8
6	52380805	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRAM2:NM_012288:exon4:c.C410T:p.T137M,;ANNO=splicing:TRAM2
6	52617794	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:GSTA2(NM_000846:c.272-1G>T)
6	52702355	.	C	T	100	PASS	AC=17;STUDIES=8;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:GSTA5(NM_153699:c.139+1G>A)
6	52878461	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ICK:NM_016513:exon10:c.C1151T:p.S384L,ICK:NM_014920:exon9:c.C1151T:p.S384L,;ANNO=splicing:ICK
6	53517128	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KLHL31:NM_001003760:exon3:c.A1173G:p.R391R,;ANNO=splicing:KLHL31
6	53764688	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRRC1:NM_018214:exon8:c.T786G:p.I262M,;ANNO=splicing:LRRC1
6	53883888	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MLIP:NM_138569:exon1:c.C62T:p.T21M,;ANNO=splicing:MLIP
6	54025539	.	A	G	100	PASS	AC=58;STUDIES=10;MAC=58;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MLIP:NM_138569:exon7:c.A836G:p.H279R,;ANNO=splicing:MLIP
6	54254589	.	A	C	100	PASS	AC=1359;STUDIES=22;MAC=1359;MAF=0.056;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TINAG:NM_014464:exon11:c.A1297C:p.I433L,;ANNO=splicing:TINAG
6	55925689	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:COL21A1:NM_030820:exon26:c.C2352T:p.P784P,;ANNO=splicing:COL21A1
6	55989091	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL21A1(NM_030820:c.1650-1G>A)
6	56033094	.	G	A	100	PASS	AC=1301;STUDIES=19;MAC=1301;MAF=0.063;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL21A1:NM_030820:exon6:c.C1028T:p.T343M,;ANNO=splicing:COL21A1
6	56358978	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DST:NM_015548:exon64:c.G12355A:p.E4119K,;ANNO=splicing:DST
6	56401738	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DST:NM_015548:exon43:c.G8740T:p.V2914L,;ANNO=splicing:DST
6	56425092	.	C	T	100	PASS	AC=16;STUDIES=6;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DST:NM_015548:exon39:c.G6571A:p.D2191N,;ANNO=splicing:DST
6	56425220	.	G	A	100	PASS	AC=101;STUDIES=11;MAC=101;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DST:NM_015548:exon39:c.C6443T:p.S2148L,;ANNO=splicing:DST
6	56497835	.	T	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DST:NM_015548:exon14:c.A2011C:p.I671L,DST:NM_001723:exon14:c.A2011C:p.I671L,;ANNO=splicing:DST
6	56911574	.	A	G	100	PASS	AC=2547;STUDIES=15;MAC=2547;MAF=0.213;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:KIAA1586:NM_020931:exon1:c.A21G:p.E7E,;ANNO=splicing:KIAA1586
6	57393112	.	T	C	100	PASS	AC=583;STUDIES=10;MAC=583;MAF=0.066;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=4;ANNO=synonymous:PRIM2:NM_000947:exon9:c.T762C:p.S254S,;ANNO=splicing:PRIM2
6	57498965	.	A	G	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRIM2(NM_000947:c.1230-2A>G)
6	57499035	.	T	C	100	PASS	AC=279;STUDIES=8;MAC=279;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PRIM2:NM_000947:exon13:c.T1299C:p.N433N,;ANNO=splicing:PRIM2
6	64404472	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PHF3:NM_015153:exon5:c.A2498C:p.E833A,;ANNO=splicing:PHF3
6	64408113	.	G	T	100	PASS	AC=82;STUDIES=6;MAC=82;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PHF3:NM_015153:exon6:c.G2681T:p.G894V,;ANNO=splicing:PHF3
6	64410356	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PHF3:NM_015153:exon8:c.T3099C:p.H1033H,;ANNO=splicing:PHF3
6	65612113	.	C	T	100	PASS	AC=47;STUDIES=3;MAC=47;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EYS:NM_001142800:exon18:c.G2739A:p.R913R,;ANNO=splicing:EYS
6	69944925	.	T	C	100	PASS	AC=28;STUDIES=5;MAC=28;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BAI3:NM_001704:exon19:c.T2609C:p.I870T,;ANNO=splicing:BAI3
6	70408933	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LMBRD1(NM_018368:c.1338+2T>C)
6	70647991	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL19A1:NM_001858:exon9:c.C935T:p.P312L,;ANNO=splicing:COL19A1
6	70744192	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL19A1(NM_001858:c.1134+2T>C)
6	70778368	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL19A1:NM_001858:exon15:c.G1224A:p.R408R,;ANNO=splicing:COL19A1
6	70850846	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL19A1:NM_001858:exon20:c.G1447A:p.G483R,;ANNO=splicing:COL19A1
6	70894806	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL19A1:NM_001858:exon46:c.G2855A:p.R952H,;ANNO=splicing:COL19A1
6	70897778	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL19A1(NM_001858:c.2856-1G>C)
6	70964854	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL9A1:NM_001851:exon23:c.C1610T:p.T537M,COL9A1:NM_078485:exon17:c.C881T:p.T294M,;ANNO=splicing:COL9A1
6	70991091	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL9A1(NM_001851:c.876+2T>A,NM_078485:c.147+2T>A)
6	70991093	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:COL9A1:NM_001851:exon8:c.C876T:p.D292D,COL9A1:NM_078485:exon2:c.C147T:p.D49D,;ANNO=splicing:COL9A1
6	71185436	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM135A:NM_001162529:exon5:c.C368T:p.S123L,FAM135A:NM_020819:exon5:c.C239T:p.S80L,FAM135A:NM_001105531:exon7:c.C368T:p.S123L,;ANNO=splicing:FAM135A
6	73000563	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RIMS1:NM_014989:exon25:c.A3736G:p.R1246G,;ANNO=splicing:RIMS1
6	74104285	.	A	C	100	PASS	AC=110;STUDIES=2;MAC=110;MAF=0.056;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:DDX43
6	74407297	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD109(NM_001159587:c.247+2T>C,NM_001159588:c.247+2T>C,NM_133493:c.247+2T>C)
6	74498191	.	G	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CD109:NM_133493:exon22:c.G2557C:p.A853P,CD109:NM_001159587:exon22:c.G2557C:p.A853P,CD109:NM_001159588:exon21:c.G2326C:p.A776P,;ANNO=splicing:CD109
6	74533180	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD109(NM_001159587:c.4111-2A>G,NM_001159588:c.3931-2A>G,NM_133493:c.4162-2A>G)
6	75843010	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:COL12A1:NM_004370:exon34:c.A5793G:p.T1931T,COL12A1:NM_080645:exon19:c.A2301G:p.T767T,;ANNO=splicing:COL12A1
6	76459139	.	C	G	100	PASS	AC=24;STUDIES=2;MAC=24;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:MYO6
6	76595810	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYO6:NM_004999:exon24:c.C2506T:p.R836C,;ANNO=splicing:MYO6
6	76608128	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYO6:NM_004999:exon30:c.G3176C:p.R1059T,;ANNO=splicing:MYO6
6	76621416	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYO6(NM_004999:c.3439+1G>A)
6	76713589	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IMPG1(NM_001563:c.1212+2T>C)
6	79595096	.	C	T	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:IRAK1BP1:NM_001010844:exon2:c.C317T:p.A106V,;ANNO=splicing:IRAK1BP1
6	79607675	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:IRAK1BP1:NM_001010844:exon3:c.C511T:p.R171X,;ANNO=splicing:IRAK1BP1
6	79787224	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PHIP:NM_017934:exon4:c.C130G:p.L44V,;ANNO=splicing:PHIP
6	80624530	.	A	T	100	PASS	AC=316;STUDIES=2;MAC=316;MAF=0.160;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ELOVL4
6	80721446	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TTK:NM_001166691:exon7:c.A729G:p.G243G,TTK:NM_003318:exon7:c.A729G:p.G243G,;ANNO=splicing:TTK
6	80878747	.	G	C	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BCKDHB:NM_183050:exon5:c.G633C:p.K211N,BCKDHB:NM_000056:exon5:c.G633C:p.K211N,;ANNO=splicing:BCKDHB
6	80910652	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BCKDHB:NM_183050:exon7:c.G744A:p.A248A,BCKDHB:NM_000056:exon7:c.G744A:p.A248A,;ANNO=splicing:BCKDHB
6	82925967	.	T	G	100	PASS	AC=24;STUDIES=12;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IBTK:NM_015525:exon11:c.A1427C:p.E476A,;ANNO=splicing:IBTK
6	83839843	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DOPEY1:NM_001199942:exon17:c.C2316T:p.D772D,DOPEY1:NM_015018:exon17:c.C2343T:p.D781D,;ANNO=splicing:DOPEY1
6	84108085	.	C	T	100	PASS	AC=133;STUDIES=16;MAC=133;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ME1(NM_002395:c.362+1G>A)
6	84563879	.	A	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:RIPPLY2:NM_001009994:exon3:c.A238T:p.R80X,;ANNO=splicing:RIPPLY2
6	86256830	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:SNX14:NM_020468:exon10:c.G976T:p.E326X,SNX14:NM_153816:exon12:c.G1108T:p.E370X,;ANNO=splicing:SNX14
6	88239365	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:RARS2:NM_020320:exon10:c.G773T:p.R258L,;ANNO=nonsynonymous:RARS2:NM_020320:exon10:c.G773A:p.R258H,;ANNO=splicing:RARS2;ANNO=splicing:RARS2
6	88299641	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RARS2:NM_020320:exon1:c.A35G:p.Q12R,;ANNO=splicing:RARS2
6	88317390	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ORC3(NM_012381:c.427-1G>A,NM_181837:c.427-1G>A)
6	88385579	.	G	A	100	PASS	AC=439;STUDIES=10;MAC=439;MAF=0.046;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AKIRIN2:NM_018064:exon4:c.C600T:p.S200S,;ANNO=splicing:AKIRIN2
6	89324114	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RNGTT:NM_003800:exon15:c.G1507T:p.V503L,;ANNO=splicing:RNGTT
6	89890206	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GABRR1:NM_002042:exon9:c.T951C:p.G317G,;ANNO=splicing:GABRR1
6	89975332	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GABRR2:NM_002043:exon7:c.G964T:p.G322C,;ANNO=splicing:GABRR2
6	90337302	.	A	C	100	PASS	AC=136;STUDIES=9;MAC=136;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ANKRD6:NM_014942:exon14:c.A1372C:p.M458L,;ANNO=splicing:ANKRD6
6	90354735	.	C	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:MDN1:NM_014611:exon101:c.G16601T:p.R5534L,;ANNO=nonsynonymous:MDN1:NM_014611:exon101:c.G16601A:p.R5534Q,;ANNO=splicing:MDN1;ANNO=splicing:MDN1
6	90354735	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:MDN1:NM_014611:exon101:c.G16601T:p.R5534L,;ANNO=nonsynonymous:MDN1:NM_014611:exon101:c.G16601A:p.R5534Q,;ANNO=splicing:MDN1;ANNO=splicing:MDN1
6	90402872	.	C	T	100	PASS	AC=20;STUDIES=6;MAC=20;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MDN1:NM_014611:exon63:c.G9877A:p.V3293I,;ANNO=splicing:MDN1
6	90471466	.	C	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=synonymous:MDN1:NM_014611:exon17:c.G2358C:p.G786G,;ANNO=synonymous:MDN1:NM_014611:exon17:c.G2358A:p.G786G,;ANNO=splicing:MDN1;ANNO=splicing:MDN1
6	90471466	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:MDN1:NM_014611:exon17:c.G2358C:p.G786G,;ANNO=synonymous:MDN1:NM_014611:exon17:c.G2358A:p.G786G,;ANNO=splicing:MDN1;ANNO=splicing:MDN1
6	91261769	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAP3K7:NM_145333:exon8:c.G866A:p.R289Q,MAP3K7:NM_145332:exon8:c.G866A:p.R289Q,MAP3K7:NM_003188:exon8:c.G866A:p.R289Q,MAP3K7:NM_145331:exon8:c.G866A:p.R289Q,;ANNO=splicing:MAP3K7
6	94120219	.	G	A	100	PASS	AC=901;STUDIES=22;MAC=901;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EPHA7:NM_004440:exon3:c.C832T:p.P278S,;ANNO=splicing:EPHA7
6	96973174	.	T	G	100	PASS	AC=57;STUDIES=5;MAC=57;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA0776:NM_015323:exon4:c.T254G:p.V85G,;ANNO=splicing:KIAA0776
6	99328430	.	A	G	100	PASS	AC=18;STUDIES=8;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FBXL4:NM_012160:exon7:c.T1388C:p.M463T,;ANNO=splicing:FBXL4
6	99916493	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:USP45:NM_001080481:exon10:c.G935A:p.R312Q,;ANNO=splicing:USP45
6	99930627	.	A	G	100	PASS	AC=241;STUDIES=18;MAC=241;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:USP45(NM_001080481:c.845+2T>C)
6	99997450	.	T	G	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCNC:NM_005190:exon9:c.A532C:p.R178R,CCNC:NM_001013399:exon9:c.A277C:p.R93R,;ANNO=splicing:CCNC
6	100841364	.	A	G	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SIM1:NM_005068:exon10:c.T1569C:p.H523H,;ANNO=splicing:SIM1
6	100964057	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ASCC3:NM_006828:exon39:c.A6074G:p.Q2025R,;ANNO=splicing:ASCC3
6	101079088	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ASCC3:NM_006828:exon26:c.C4124T:p.A1375V,;ANNO=splicing:ASCC3
6	101079090	.	C	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ASCC3(NM_006828:c.4122-1G>C)
6	101215020	.	C	A	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ASCC3(NM_006828:c.1596+1G>T)
6	101215022	.	T	C	100	PASS	AC=23;STUDIES=3;MAC=23;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ASCC3:NM_006828:exon9:c.A1595G:p.K532R,;ANNO=splicing:ASCC3
6	101246588	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ASCC3(NM_006828:c.1395+1G>A)
6	102134227	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GRIK2:NM_021956:exon6:c.C950T:p.T317M,GRIK2:NM_175768:exon6:c.C950T:p.T317M,GRIK2:NM_001166247:exon6:c.C950T:p.T317M,;ANNO=splicing:GRIK2
6	105730456	.	A	G	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PREP:NM_002726:exon13:c.T1551C:p.G517G,;ANNO=splicing:PREP
6	105800848	.	C	A	100	PASS	AC=35;STUDIES=7;MAC=35;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PREP:NM_002726:exon7:c.G822T:p.A274A,;ANNO=splicing:PREP
6	106978190	.	C	T	100	PASS	AC=144;STUDIES=17;MAC=144;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:AIM1:NM_001624:exon6:c.C3494T:p.T1165M,;ANNO=splicing:AIM1
6	107110855	.	A	C	100	PASS	AC=24;STUDIES=8;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:QRSL1:NM_018292:exon10:c.A1161C:p.E387D,;ANNO=splicing:QRSL1
6	107351312	.	G	A	100	PASS	AC=28;STUDIES=4;MAC=28;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C6orf203(NM_001142470:c.3+1G>A)
6	107420500	.	G	A	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:BEND3
6	108071016	.	A	G	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCML4:NM_198081:exon3:c.T158C:p.I53T,;ANNO=splicing:SCML4
6	108214686	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:SEC63:NM_007214:exon16:c.T1674C:p.N558N,;ANNO=splicing:SEC63
6	109220996	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ARMC2(NM_032131:c.847+1G>A)
6	109481776	.	G	A	100	PASS	AC=46;STUDIES=14;MAC=46;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CEP57L1:NM_173830:exon10:c.G1018A:p.E340K,CEP57L1:NM_001083535:exon12:c.G1018A:p.E340K,;ANNO=splicing:CEP57L1
6	109699103	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CD164:NM_001142403:exon3:c.G331A:p.V111I,CD164:NM_001142402:exon3:c.G331A:p.V111I,CD164:NM_001142401:exon3:c.G331A:p.A111T,CD164:NM_006016:exon3:c.G331A:p.V111I,CD164:NM_001142404:exon3:c.G331A:p.V111I,;ANNO=splicing:CD164
6	109699104	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CD164:NM_001142403:exon3:c.C330T:p.S110S,CD164:NM_001142402:exon3:c.C330T:p.S110S,CD164:NM_001142401:exon3:c.C330T:p.S110S,CD164:NM_006016:exon3:c.C330T:p.S110S,CD164:NM_001142404:exon3:c.C330T:p.S110S,;ANNO=splicing:CD164
6	109752549	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PPIL6(NM_173672:c.231-1G>A,NM_001111298:c.231-1G>A)
6	109774465	.	C	A	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MICAL1(NM_001159291:c.571+1G>T,NM_022765:c.571+1G>T)
6	109863251	.	G	A	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AKD1:NM_001145128:exon27:c.C3349T:p.R1117C,;ANNO=splicing:AKD1
6	109965891	.	C	T	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AKD1:NM_001145128:exon9:c.G760A:p.E254K,AKD1:NM_145025:exon9:c.G760A:p.E254K,;ANNO=splicing:AKD1
6	110536489	.	C	G	100	PASS	AC=166;STUDIES=19;MAC=166;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CDC40:NM_015891:exon9:c.C943G:p.L315V,;ANNO=splicing:CDC40
6	110679158	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C6orf186:NM_001123364:exon1:c.G318A:p.K106K,;ANNO=splicing:C6orf186
6	111587079	.	G	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1919:NM_153369:exon4:c.G314T:p.G105V,;ANNO=splicing:KIAA1919
6	111685180	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:REV3L:NM_002912:exon16:c.A6755G:p.N2252S,;ANNO=splicing:REV3L
6	112389407	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WISP3(NM_003880:c.589-1G>C,NM_198239:c.643-1G>C)
6	112389600	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WISP3:NM_198239:exon4:c.A836G:p.K279R,WISP3:NM_003880:exon5:c.A782G:p.K261R,;ANNO=splicing:WISP3
6	112405393	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TUBE1:NM_016262:exon4:c.G209A:p.R70Q,;ANNO=splicing:TUBE1
6	112460954	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LAMA4:NM_001105207:exon23:c.G3089A:p.R1030Q,LAMA4:NM_001105206:exon23:c.G3110A:p.R1037Q,LAMA4:NM_002290:exon23:c.G3089A:p.R1030Q,;ANNO=splicing:LAMA4
6	112476767	.	A	G	100	PASS	AC=20;STUDIES=11;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LAMA4:NM_001105207:exon15:c.T1938C:p.D646D,LAMA4:NM_001105206:exon15:c.T1959C:p.D653D,LAMA4:NM_002290:exon15:c.T1938C:p.D646D,;ANNO=splicing:LAMA4
6	112522809	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LAMA4:NM_001105207:exon5:c.G503A:p.R168K,LAMA4:NM_001105206:exon5:c.G503A:p.R168K,LAMA4:NM_002290:exon5:c.G503A:p.R168K,;ANNO=splicing:LAMA4
6	116265588	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FRK:NM_002031:exon6:c.A959G:p.N320S,;ANNO=splicing:FRK
6	116544294	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NT5DC1:NM_152729:exon8:c.G802A:p.E268K,;ANNO=splicing:NT5DC1
6	116783619	.	T	G	100	PASS	AC=313;STUDIES=8;MAC=313;MAF=0.064;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=3;ANNO=splicing:FAM26F(NM_001010919:c.525+2T>G)
6	116968773	.	C	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZUFSP:NM_145062:exon8:c.G1317A:p.K439K,;ANNO=splicing:ZUFSP
6	116977847	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZUFSP:NM_145062:exon5:c.G961A:p.G321R,;ANNO=splicing:ZUFSP
6	117086309	.	C	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM162B(NM_001085480:c.281+1G>T)
6	117198661	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RFX6:NM_173560:exon1:c.G223C:p.E75Q,;ANNO=splicing:RFX6
6	117241617	.	C	T	100	PASS	AC=191;STUDIES=8;MAC=191;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RFX6:NM_173560:exon12:c.C1327T:p.H443Y,;ANNO=splicing:RFX6
6	117249922	.	G	C	100	PASS	AC=38;STUDIES=10;MAC=38;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RFX6:NM_173560:exon18:c.G2399C:p.G800A,;ANNO=splicing:RFX6
6	117622137	.	C	T	100	PASS	AC=24;STUDIES=13;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ROS1:NM_002944:exon42:c.G6733A:p.G2245S,;ANNO=splicing:ROS1
6	117631444	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ROS1:NM_002944:exon40:c.G6234T:p.R2078S,;ANNO=splicing:ROS1
6	117663563	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ROS1:NM_002944:exon28:c.G4669A:p.V1557I,;ANNO=splicing:ROS1
6	117665425	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ROS1:NM_002944:exon27:c.A4322G:p.D1441G,;ANNO=splicing:ROS1
6	117709197	.	T	G	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ROS1:NM_002944:exon13:c.A1760C:p.N587T,;ANNO=splicing:ROS1
6	117724301	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ROS1(NM_002944:c.577+1G>A)
6	117892023	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GOPC:NM_020399:exon6:c.A912C:p.T304T,GOPC:NM_001017408:exon5:c.A888C:p.T296T,;ANNO=splicing:GOPC
6	119252905	.	T	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MCM9
6	119501110	.	T	C	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MAN1A1:NM_005907:exon13:c.A1836G:p.K612K,;ANNO=splicing:MAN1A1
6	121452897	.	G	A	100	PASS	AC=273;STUDIES=20;MAC=273;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C6orf170:NM_152730:exon25:c.C2775T:p.D925D,;ANNO=splicing:C6orf170
6	121600391	.	C	A	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C6orf170:NM_152730:exon15:c.G1609T:p.A537S,;ANNO=splicing:C6orf170
6	121602832	.	T	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C6orf170:NM_152730:exon14:c.A1466T:p.E489V,;ANNO=splicing:C6orf170
6	122768149	.	G	A	100	PASS	AC=199;STUDIES=18;MAC=199;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SERINC1:NM_020755:exon9:c.C996T:p.S332S,;ANNO=splicing:SERINC1
6	123122552	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SMPDL3A(NM_006714:c.568+1G>A)
6	123637602	.	C	T	100	PASS	AC=20;STUDIES=5;MAC=20;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRDN:NM_006073:exon24:c.G1510A:p.G504S,;ANNO=splicing:TRDN
6	123699042	.	T	C	100	PASS	AC=3293;STUDIES=12;MAC=3293;MAF=0.379;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=3;ANNO=synonymous:TRDN:NM_006073:exon17:c.A1188G:p.K396K,;ANNO=splicing:TRDN
6	123703291	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRDN:NM_006073:exon15:c.T1137G:p.D379E,;ANNO=splicing:TRDN
6	125569426	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TPD52L1(NM_001003396:c.284-2A>G,NM_001003397:c.284-2A>G,NM_003287:c.284-2A>G,NM_001003395:c.197-2A>G)
6	126073236	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HEY2:NM_012259:exon3:c.A246G:p.Q82Q,;ANNO=splicing:HEY2
6	126199409	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NCOA7:NM_001199620:exon7:c.G352T:p.A118S,NCOA7:NM_001122842:exon5:c.G352T:p.A118S,NCOA7:NM_001199619:exon6:c.G352T:p.A118S,NCOA7:NM_001199621:exon4:c.G40T:p.A14S,NCOA7:NM_181782:exon5:c.G352T:p.A118S,;ANNO=splicing:NCOA7
6	126249320	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NCOA7:NM_001199620:exon17:c.G2620T:p.V874F,NCOA7:NM_001122842:exon15:c.G2587T:p.V863F,NCOA7:NM_001199619:exon16:c.G2620T:p.V874F,NCOA7:NM_001199621:exon14:c.G2275T:p.V759F,NCOA7:NM_001199622:exon5:c.G451T:p.V151F,NCOA7:NM_181782:exon15:c.G2620T:p.V874F,;ANNO=splicing:NCOA7
6	126295993	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HINT3:NM_138571:exon4:c.G390A:p.R130R,;ANNO=splicing:HINT3
6	128306864	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PTPRK(NM_001135648:c.3269+2T>C,NM_002844:c.3251+2T>C)
6	129498852	.	T	G	100	PASS	AC=26;STUDIES=12;MAC=26;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LAMA2:NM_001079823:exon10:c.T1308G:p.G436G,LAMA2:NM_000426:exon10:c.T1308G:p.G436G,;ANNO=splicing:LAMA2
6	129513825	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LAMA2:NM_001079823:exon12:c.A1609T:p.I537L,LAMA2:NM_000426:exon12:c.A1609T:p.I537L,;ANNO=splicing:LAMA2
6	129635800	.	G	A	100	PASS	AC=1694;STUDIES=22;MAC=1694;MAF=0.070;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LAMA2:NM_001079823:exon24:c.G3412A:p.V1138M,LAMA2:NM_000426:exon24:c.G3412A:p.V1138M,;ANNO=splicing:LAMA2
6	129641684	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LAMA2:NM_001079823:exon28:c.A4060G:p.I1354V,LAMA2:NM_000426:exon28:c.A4060G:p.I1354V,;ANNO=splicing:LAMA2
6	129763368	.	A	G	100	PASS	AC=100;STUDIES=6;MAC=100;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LAMA2:NM_001079823:exon44:c.A6270G:p.K2090K,LAMA2:NM_000426:exon44:c.A6270G:p.K2090K,;ANNO=splicing:LAMA2
6	129823915	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LAMA2:NM_001079823:exon58:c.C8344T:p.R2782C,LAMA2:NM_000426:exon59:c.C8356T:p.R2786C,;ANNO=splicing:LAMA2
6	130166999	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C6orf191(NM_001010876:c.33-2A>G)
6	130442104	.	G	T	100	PASS	AC=38;STUDIES=4;MAC=38;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:L3MBTL3(NM_001007102:c.1891+1G>T,NM_032438:c.1966+1G>T)
6	130505247	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SAMD3(NM_001017373:c.654+1G>A,NM_152552:c.654+1G>A)
6	131540948	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AKAP7:NM_016377:exon7:c.G850A:p.G284S,;ANNO=splicing:AKAP7
6	131894479	.	G	A	100	PASS	AC=23;STUDIES=5;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARG1:NM_000045:exon1:c.G57A:p.Q19Q,;ANNO=splicing:ARG1
6	131973806	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ENPP3:NM_005021:exon4:c.A402G:p.Q134Q,;ANNO=splicing:ENPP3
6	132045180	.	A	G	100	PASS	AC=156;STUDIES=13;MAC=156;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ENPP3:NM_005021:exon19:c.A1747G:p.S583G,;ANNO=splicing:ENPP3
6	132058572	.	A	G	100	PASS	AC=20;STUDIES=4;MAC=20;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:ENPP3:NM_005021:exon22:c.A2167G:p.K723E,;ANNO=splicing:ENPP3
6	132190629	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ENPP1:NM_006208:exon13:c.T1405C:p.F469L,;ANNO=splicing:ENPP1
6	132636774	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MOXD1:NM_015529:exon10:c.C1508T:p.T503M,;ANNO=splicing:MOXD1
6	132649152	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MOXD1:NM_015529:exon6:c.G946T:p.G316C,;ANNO=splicing:MOXD1
6	132789613	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STX7:NM_003569:exon8:c.C539T:p.A180V,;ANNO=splicing:STX7
6	132874859	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TAAR8:NM_053278:exon1:c.A1028G:p.X343X,;ANNO=splicing:TAAR8
6	132945355	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TAAR2:NM_001033080:exon1:c.G60T:p.K20N,;ANNO=splicing:TAAR2
6	133100407	.	C	T	100	PASS	AC=65;STUDIES=14;MAC=65;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C6orf192:NM_052831:exon7:c.G795A:p.K265K,;ANNO=splicing:C6orf192
6	133105072	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C6orf192:NM_052831:exon6:c.G658A:p.E220K,;ANNO=splicing:C6orf192
6	133769316	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:EYA4:NM_172105:exon5:c.A276T:p.T92T,EYA4:NM_004100:exon5:c.A276T:p.T92T,;ANNO=splicing:EYA4
6	133804171	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EYA4:NM_172103:exon12:c.G1040A:p.R347H,EYA4:NM_172105:exon13:c.G1109A:p.R370H,EYA4:NM_004100:exon13:c.G1109A:p.R370H,;ANNO=splicing:EYA4
6	134638530	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SGK1:NM_001143676:exon1:c.G69A:p.R23R,;ANNO=splicing:SGK1
6	135263548	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ALDH8A1:NM_170771:exon3:c.C441T:p.V147V,ALDH8A1:NM_001193480:exon3:c.C441T:p.V147V,ALDH8A1:NM_022568:exon3:c.C441T:p.V147V,;ANNO=splicing:ALDH8A1
6	135323873	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HBS1L:NM_001145158:exon4:c.G412A:p.G138R,HBS1L:NM_006620:exon5:c.G538A:p.G180R,;ANNO=splicing:HBS1L
6	135323980	.	C	T	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HBS1L:NM_001145158:exon4:c.G305A:p.G102E,HBS1L:NM_006620:exon5:c.G431A:p.G144E,;ANNO=splicing:HBS1L
6	135621639	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AHI1:NM_017651:exon26:c.C3484T:p.H1162Y,AHI1:NM_001134831:exon27:c.C3484T:p.H1162Y,AHI1:NM_001134830:exon25:c.C3484T:p.H1162Y,;ANNO=splicing:AHI1
6	135679271	.	G	A	100	PASS	AC=18;STUDIES=6;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AHI1:NM_017651:exon23:c.C3164T:p.T1055M,AHI1:NM_001134831:exon24:c.C3164T:p.T1055M,AHI1:NM_001134830:exon22:c.C3164T:p.T1055M,;ANNO=splicing:AHI1
6	136470287	.	T	C	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PDE7B:NM_018945:exon5:c.T381C:p.N127N,;ANNO=splicing:PDE7B
6	136495026	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDE7B:NM_018945:exon9:c.C803T:p.T268I,;ANNO=splicing:PDE7B
6	136667216	.	T	G	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MAP7:NM_001198614:exon18:c.A2083C:p.T695P,MAP7:NM_001198617:exon15:c.A1735C:p.T579P,MAP7:NM_001198615:exon17:c.A1972C:p.T658P,MAP7:NM_003980:exon17:c.A2017C:p.T673P,MAP7:NM_001198618:exon17:c.A1579C:p.T527P,MAP7:NM_001198608:exon17:c.A2083C:p.T695P,MAP7:NM_001198619:exon17:c.A1579C:p.T527P,MAP7:NM_001198609:exon17:c.A2107C:p.T703P,MAP7:NM_001198616:exon16:c.A1906C:p.T636P,MAP7:NM_001198611:exon16:c.A1972C:p.T658P,;ANNO=splicing:MAP7
6	137219380	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PEX7(NM_000288:c.903+1G>C)
6	137330455	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IL20RA:NM_014432:exon4:c.C578T:p.T193M,;ANNO=splicing:IL20RA
6	137466911	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IL22RA2(NM_181310:c.376-1G>A,NM_181309:c.546-1G>A,NM_052962:c.642-1G>A)
6	137540381	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IFNGR1:NM_000416:exon1:c.A84G:p.S28S,;ANNO=splicing:IFNGR1
6	138200488	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TNFAIP3:NM_006290:exon7:c.C1906T:p.H636Y,;ANNO=splicing:TNFAIP3
6	138202173	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TNFAIP3:NM_006290:exon9:c.G2090A:p.R697K,;ANNO=splicing:TNFAIP3
6	138608212	.	C	T	100	PASS	AC=672;STUDIES=20;MAC=672;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KIAA1244:NM_020340:exon17:c.C2787T:p.G929G,;ANNO=splicing:KIAA1244
6	138726283	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HEBP2:NM_014320:exon2:c.C104T:p.P35L,;ANNO=splicing:HEBP2
6	138727287	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HEBP2:NM_014320:exon3:c.C418T:p.R140W,;ANNO=splicing:HEBP2
6	138727288	.	G	A	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HEBP2:NM_014320:exon3:c.G419A:p.R140Q,;ANNO=splicing:HEBP2
6	138817509	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NHSL1(NM_020464:c.202-1G>T,NM_001144060:c.58-1G>T)
6	139106519	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC28A(NM_015439:c.747+1G>A)
6	139165719	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ECT2L(NM_001077706:c.764+2T>C,NM_001195037:c.764+2T>C)
6	139197608	.	G	C	100	PASS	AC=70;STUDIES=4;MAC=70;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:ECT2L(NM_001077706:c.1578-1G>C,NM_001195037:c.1578-1G>C)
6	139197609	.	G	A	100	PASS	AC=6015;STUDIES=22;MAC=6015;MAF=0.249;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ECT2L:NM_001077706:exon14:c.G1579A:p.E527K,ECT2L:NM_001195037:exon13:c.G1579A:p.E527K,;ANNO=splicing:ECT2L
6	139223635	.	A	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ECT2L(NM_001077706:c.2587-2A>T,NM_001195037:c.2587-2A>T)
6	139233903	.	G	A	100	PASS	AC=29;STUDIES=5;MAC=29;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:REPS1:NM_031922:exon16:c.C1967T:p.P656L,REPS1:NM_001128617:exon15:c.C1889T:p.P630L,;ANNO=splicing:REPS1
6	139235897	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:REPS1:NM_031922:exon15:c.A1719G:p.G573G,REPS1:NM_001128617:exon14:c.A1641G:p.G547G,;ANNO=splicing:REPS1
6	139242175	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:REPS1:NM_031922:exon11:c.C1425T:p.S475S,REPS1:NM_001128617:exon10:c.C1344T:p.S448S,;ANNO=splicing:REPS1
6	139591762	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TXLNB:NM_153235:exon4:c.T518C:p.L173P,;ANNO=splicing:TXLNB
6	142468536	.	T	A	100	PASS	AC=37;STUDIES=9;MAC=37;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VTA1:NM_016485:exon1:c.T112A:p.C38S,;ANNO=splicing:VTA1
6	142490816	.	T	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VTA1(NM_016485:c.335+2T>A)
6	142525201	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VTA1:NM_016485:exon7:c.G777C:p.Q259H,;ANNO=splicing:VTA1
6	142724940	.	G	A	100	PASS	AC=21;STUDIES=4;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPR126:NM_001032394:exon13:c.G1873A:p.A625T,GPR126:NM_001032395:exon13:c.G1873A:p.A625T,GPR126:NM_198569:exon14:c.G1957A:p.A653T,GPR126:NM_020455:exon14:c.G1957A:p.A653T,;ANNO=splicing:GPR126
6	142759501	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GPR126:NM_001032394:exon23:c.G3490C:p.D1164H,GPR126:NM_001032395:exon23:c.G3490C:p.D1164H,GPR126:NM_198569:exon24:c.G3574C:p.D1192H,GPR126:NM_020455:exon24:c.G3574C:p.D1192H,;ANNO=splicing:GPR126
6	143753641	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADAT2(NM_182503:c.459+1G>T)
6	144179144	.	G	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LTV1:NM_032860:exon6:c.G795A:p.K265K,;ANNO=splicing:LTV1
6	144743015	.	G	A	100	PASS	AC=294;STUDIES=20;MAC=294;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UTRN:NM_007124:exon3:c.G143A:p.S48N,;ANNO=splicing:UTRN
6	144758881	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UTRN:NM_007124:exon10:c.C1240T:p.R414W,;ANNO=splicing:UTRN
6	144835787	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UTRN:NM_007124:exon36:c.G5075A:p.R1692H,;ANNO=splicing:UTRN
6	144852187	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UTRN(NM_007124:c.5906-1G>A)
6	145161969	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UTRN(NM_007124:c.10270+1G>A)
6	146263009	.	A	G	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SHPRH:NM_173082:exon10:c.T2240C:p.V747A,SHPRH:NM_001042683:exon10:c.T2240C:p.V747A,;ANNO=splicing:SHPRH
6	146273614	.	C	T	100	PASS	AC=15;STUDIES=9;MAC=15;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SHPRH:NM_173082:exon3:c.G634A:p.V212I,SHPRH:NM_001042683:exon3:c.G634A:p.V212I,;ANNO=splicing:SHPRH
6	146870601	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RAB32:NM_006834:exon2:c.G252A:p.G84G,;ANNO=splicing:RAB32
6	147556386	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STXBP5:NM_001127715:exon3:c.G249T:p.R83S,STXBP5:NM_139244:exon3:c.G249T:p.R83S,;ANNO=splicing:STXBP5
6	148856037	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SASH1:NM_015278:exon16:c.A2095G:p.S699G,;ANNO=splicing:SASH1
6	148867282	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SASH1:NM_015278:exon19:c.G3480A:p.A1160A,;ANNO=splicing:SASH1
6	149394969	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UST:NM_005715:exon8:c.A938G:p.E313G,;ANNO=splicing:UST
6	149862721	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:PPIL4:NM_139126:exon2:c.A72T:p.R24S,;ANNO=synonymous:PPIL4:NM_139126:exon2:c.A72G:p.R24R,;ANNO=splicing:PPIL4;ANNO=splicing:PPIL4
6	149862721	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:PPIL4:NM_139126:exon2:c.A72T:p.R24S,;ANNO=synonymous:PPIL4:NM_139126:exon2:c.A72G:p.R24R,;ANNO=splicing:PPIL4;ANNO=splicing:PPIL4
6	150164259	.	A	C	100	PASS	AC=76;STUDIES=3;MAC=76;MAF=0.078;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRP11:NM_032832:exon3:c.T773G:p.V258G,;ANNO=splicing:LRP11
6	150211953	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RAET1E:NM_139165:exon1:c.G85T:p.G29C,;ANNO=splicing:RAET1E
6	150239308	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RAET1G(NM_001001788:c.842+2T>C)
6	150267791	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ULBP2(NM_025217:c.631+2T>C)
6	150291283	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:ULBP1
6	150387297	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=synonymous:ULBP3:NM_024518:exon2:c.C90T:p.D30D,;ANNO=splicing:ULBP3
6	151197310	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MTHFD1L:NM_015440:exon2:c.C312A:p.P104P,;ANNO=splicing:MTHFD1L
6	151239713	.	G	A	100	PASS	AC=38;STUDIES=5;MAC=38;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MTHFD1L:NM_015440:exon9:c.C893A:p.A298D,;ANNO=splicing:MTHFD1L
6	151647019	.	A	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AKAP12:NM_144497:exon1:c.A24C:p.T8T,;ANNO=splicing:AKAP12
6	151674887	.	G	A	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:AKAP12
6	151748618	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RMND1:NM_017909:exon6:c.G829C:p.E277Q,;ANNO=splicing:RMND1
6	151865707	.	A	C	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C6orf97:NM_025059:exon4:c.A444C:p.Q148H,;ANNO=splicing:C6orf97
6	152163733	.	C	G	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ESR1:NM_001122740:exon3:c.C454G:p.P152A,ESR1:NM_000125:exon2:c.C454G:p.P152A,ESR1:NM_001122741:exon3:c.C454G:p.P152A,ESR1:NM_001122742:exon4:c.C454G:p.P152A,;ANNO=splicing:ESR1
6	152453258	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SYNE1:NM_033071:exon144:c.C25949T:p.T8650M,SYNE1:NM_182961:exon144:c.C26093T:p.T8698M,;ANNO=splicing:SYNE1
6	152558082	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SYNE1:NM_033071:exon108:c.C19856T:p.T6619M,SYNE1:NM_182961:exon109:c.C20069T:p.T6690M,;ANNO=splicing:SYNE1
6	152577899	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYNE1:NM_033071:exon101:c.T18761C:p.L6254P,SYNE1:NM_182961:exon102:c.T18974C:p.L6325P,;ANNO=splicing:SYNE1
6	152583322	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYNE1:NM_033071:exon100:c.G18604A:p.E6202K,SYNE1:NM_182961:exon101:c.G18817A:p.E6273K,;ANNO=splicing:SYNE1
6	152660377	.	G	A	100	PASS	AC=23;STUDIES=9;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SYNE1:NM_033071:exon74:c.C12137T:p.T4046M,SYNE1:NM_182961:exon75:c.C12350T:p.T4117M,;ANNO=splicing:SYNE1
6	152697692	.	G	C	100	PASS	AC=49;STUDIES=13;MAC=49;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYNE1:NM_033071:exon58:c.C9169G:p.L3057V,SYNE1:NM_182961:exon58:c.C9148G:p.L3050V,;ANNO=splicing:SYNE1
6	152746682	.	C	A	100	PASS	AC=63;STUDIES=17;MAC=63;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYNE1:NM_033071:exon39:c.G5122T:p.A1708S,SYNE1:NM_182961:exon39:c.G5101T:p.A1701S,;ANNO=splicing:SYNE1
6	152771967	.	A	G	100	PASS	AC=74;STUDIES=16;MAC=74;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYNE1:NM_033071:exon27:c.T3209C:p.V1070A,SYNE1:NM_182961:exon27:c.T3188C:p.V1063A,;ANNO=splicing:SYNE1
6	152776725	.	T	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:SYNE1:NM_033071:exon24:c.A2749T:p.S917C,SYNE1:NM_182961:exon24:c.A2728T:p.S910C,;ANNO=nonsynonymous:SYNE1:NM_033071:exon24:c.A2749G:p.S917G,SYNE1:NM_182961:exon24:c.A2728G:p.S910G,;ANNO=splicing:SYNE1;ANNO=splicing:SYNE1
6	152832706	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SYNE1:NM_033071:exon6:c.G330A:p.P110P,;ANNO=splicing:SYNE1
6	153042878	.	G	A	100	PASS	AC=47;STUDIES=14;MAC=47;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYCT1:NM_025107:exon2:c.G198A:p.E66E,;ANNO=splicing:MYCT1
6	154428601	.	T	C	100	PASS	AC=34;STUDIES=3;MAC=34;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OPRM1:NM_001145286:exon4:c.T1166C:p.V389A,;ANNO=splicing:OPRM1
6	154731566	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CNKSR3:NM_173515:exon12:c.G1280A:p.G427D,;ANNO=splicing:CNKSR3
6	154735433	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CNKSR3:NM_173515:exon10:c.G1070A:p.R357Q,;ANNO=splicing:CNKSR3
6	155141466	.	T	C	100	PASS	AC=31;STUDIES=5;MAC=31;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SCAF8:NM_014892:exon15:c.T1791C:p.T597T,;ANNO=splicing:SCAF8
6	155500277	.	G	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TIAM2:NM_012454:exon10:c.G2628T:p.Q876H,;ANNO=splicing:TIAM2
6	155504372	.	G	T	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TIAM2:NM_012454:exon13:c.G2802T:p.G934G,;ANNO=splicing:TIAM2
6	155619721	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TFB1M(NM_016020:c.285-2A>G)
6	155718098	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NOX3(NM_015718:c.1580-2A>G)
6	155757680	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NOX3:NM_015718:exon7:c.C670T:p.R224W,;ANNO=splicing:NOX3
6	155761270	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NOX3:NM_015718:exon6:c.A488G:p.N163S,;ANNO=splicing:NOX3
6	157511343	.	A	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARID1B:NM_017519:exon14:c.A3822G:p.K1274K,ARID1B:NM_020732:exon15:c.A3861G:p.K1287K,;ANNO=splicing:ARID1B
6	158066871	.	C	T	100	PASS	AC=43;STUDIES=5;MAC=43;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZDHHC14:NM_153746:exon6:c.C855T:p.D285D,ZDHHC14:NM_024630:exon6:c.C855T:p.D285D,;ANNO=splicing:ZDHHC14
6	158288665	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:SNX9:NM_016224:exon2:c.G99A:p.P33P,;ANNO=splicing:SNX9
6	158331056	.	A	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SNX9:NM_016224:exon9:c.A948T:p.T316T,;ANNO=splicing:SNX9
6	158484904	.	G	C	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYNJ2:NM_003898:exon9:c.G1209C:p.E403D,SYNJ2:NM_001178088:exon8:c.G498C:p.E166D,;ANNO=splicing:SYNJ2
6	158495613	.	G	A	100	PASS	AC=15;STUDIES=10;MAC=15;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SYNJ2:NM_003898:exon16:c.G2135A:p.G712E,SYNJ2:NM_001178088:exon15:c.G1424A:p.G475E,;ANNO=splicing:SYNJ2
6	158499194	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SYNJ2(NM_003898:c.2449-2A>G,NM_001178088:c.1738-2A>G)
6	158579305	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:SERAC1:NM_032861:exon2:c.A91G:p.R31G,;ANNO=splicing:SERAC1
6	159026379	.	T	C	100	PASS	AC=143;STUDIES=7;MAC=143;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TMEM181:NM_020823:exon7:c.T984C:p.T328T,;ANNO=splicing:TMEM181
6	159058804	.	G	A	100	PASS	AC=258;STUDIES=21;MAC=258;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:DYNLT1:NM_006519:exon3:c.C192T:p.I64I,;ANNO=splicing:DYNLT1
6	159188109	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:EZR:NM_001111077:exon14:c.C1598T:p.T533M,EZR:NM_003379:exon13:c.C1598T:p.T533M,;ANNO=splicing:EZR
6	159197440	.	A	C	100	PASS	AC=17;STUDIES=8;MAC=17;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EZR:NM_001111077:exon8:c.T795G:p.P265P,EZR:NM_003379:exon7:c.T795G:p.P265P,;ANNO=splicing:EZR
6	159650848	.	A	G	100	PASS	AC=77;STUDIES=6;MAC=77;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FNDC1:NM_032532:exon10:c.A1182G:p.E394E,;ANNO=splicing:FNDC1
6	160183176	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACAT2(NM_005891:c.55+2T>C)
6	160239686	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PNLDC1:NM_173516:exon16:c.C1224T:p.I408I,;ANNO=splicing:PNLDC1
6	160481748	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IGF2R:NM_000876:exon23:c.C3261T:p.T1087T,;ANNO=splicing:IGF2R
6	160482959	.	C	T	100	PASS	AC=28;STUDIES=8;MAC=28;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IGF2R:NM_000876:exon25:c.C3581T:p.S1194L,;ANNO=splicing:IGF2R
6	160494500	.	C	T	100	PASS	AC=11;STUDIES=9;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IGF2R:NM_000876:exon34:c.C4946T:p.A1649V,;ANNO=splicing:IGF2R
6	160517472	.	C	T	100	PASS	AC=166;STUDIES=18;MAC=166;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:IGF2R:NM_000876:exon45:c.C6657T:p.D2219D,;ANNO=splicing:IGF2R
6	160668329	.	A	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC22A2:NM_003058:exon5:c.T844G:p.C282G,;ANNO=splicing:SLC22A2
6	160953563	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LPA:NM_005577:exon39:c.G5961A:p.Q1987Q,;ANNO=splicing:LPA
6	160963839	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LPA:NM_005577:exon35:c.A5400G:p.A1800A,;ANNO=splicing:LPA
6	160968968	.	G	A	100	PASS	AC=278;STUDIES=17;MAC=278;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:LPA:NM_005577:exon33:c.C5157T:p.D1719D,;ANNO=splicing:LPA
6	160969693	.	T	C	100	PASS	AC=102;STUDIES=14;MAC=102;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:LPA(NM_005577:c.4973-2A>G)
6	160998167	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LPA(NM_005577:c.4631+1G>A)
6	160999738	.	T	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:LPA(NM_005577:c.4289-2A>G)
6	161006077	.	C	T	100	PASS	AC=613;STUDIES=18;MAC=613;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LPA(NM_005577:c.4289+1G>A)
6	161026077	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:LPA(NM_005577:c.2945+1G>A)
6	161026078	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:LPA:NM_005577:exon19:c.C2945T:p.A982V,;ANNO=splicing:LPA
6	161532868	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAP3K4:NM_006724:exon23:c.G4247A:p.G1416D,MAP3K4:NM_005922:exon24:c.G4397A:p.G1466D,;ANNO=splicing:MAP3K4
6	165693598	.	C	A	100	PASS	AC=77;STUDIES=5;MAC=77;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C6orf118:NM_144980:exon9:c.G1358T:p.G453V,;ANNO=splicing:C6orf118
6	166743735	.	C	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SFT2D1:NM_145169:exon2:c.G64A:p.V22I,;ANNO=splicing:SFT2D1
6	166836744	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RPS6KA2:NM_021135:exon17:c.G1743A:p.E581E,RPS6KA2:NM_001006932:exon18:c.G1767A:p.E589E,;ANNO=splicing:RPS6KA2
6	166873038	.	G	C	100	PASS	AC=17;STUDIES=4;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RPS6KA2:NM_021135:exon12:c.C974G:p.T325R,RPS6KA2:NM_001006932:exon13:c.C998G:p.T333R,;ANNO=splicing:RPS6KA2
6	167416734	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FGFR1OP:NM_194429:exon3:c.C210T:p.D70D,FGFR1OP:NM_007045:exon3:c.C210T:p.D70D,;ANNO=splicing:FGFR1OP
6	167594221	.	G	C	100	PASS	AC=30;STUDIES=4;MAC=30;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:TCP10L2:NM_001145121:exon7:c.G870C:p.Q290H,;ANNO=splicing:TCP10L2
6	167711559	.	G	C	100	PASS	AC=346;STUDIES=17;MAC=346;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UNC93A(NM_018974:c.625+1G>C)
6	167719539	.	G	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UNC93A(NM_018974:c.976+1G>A,NM_001143947:c.850+1G>A)
6	167721268	.	C	T	100	PASS	AC=25;STUDIES=7;MAC=25;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:UNC93A:NM_001143947:exon6:c.C852T:p.G284G,UNC93A:NM_018974:exon7:c.C978T:p.G326G,;ANNO=splicing:UNC93A
6	167789455	.	A	G	100	PASS	AC=130;STUDIES=8;MAC=130;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TCP10:NM_004610:exon6:c.T687C:p.A229A,;ANNO=splicing:TCP10
6	167796300	.	G	A	100	PASS	AC=12;STUDIES=8;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:TCP10:NM_004610:exon2:c.C62T:p.P21L,;ANNO=splicing:TCP10
6	167797869	.	C	G	100	PASS	AC=52;STUDIES=2;MAC=52;MAF=0.039;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:TCP10
6	168351867	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MLLT4:NM_001207008:exon28:c.G3761A:p.R1254H,MLLT4:NM_001040000:exon29:c.G3812A:p.R1271H,;ANNO=splicing:MLLT4
6	168363113	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MLLT4:NM_001207008:exon29:c.T4762C:p.L1588L,;ANNO=splicing:MLLT4
6	168443241	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIF25:NM_030615:exon8:c.G830A:p.G277D,;ANNO=splicing:KIF25
6	168443396	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIF25:NM_030615:exon8:c.G985A:p.G329R,;ANNO=splicing:KIF25
6	168445769	.	C	T	100	PASS	AC=66;STUDIES=3;MAC=66;MAF=0.032;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:KIF25
6	168465737	.	G	A	100	PASS	AC=21;STUDIES=11;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FRMD1:NM_001122841:exon5:c.C258T:p.S86S,FRMD1:NM_024919:exon5:c.C462T:p.S154S,;ANNO=splicing:FRMD1
6	168467512	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FRMD1(NM_001122841:c.180-1G>T,NM_024919:c.384-1G>T)
6	168479562	.	C	T	100	PASS	AC=668;STUDIES=22;MAC=668;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FRMD1:NM_024919:exon1:c.G213A:p.G71G,;ANNO=splicing:FRMD1
6	169637889	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:THBS2:NM_003247:exon9:c.G1131A:p.S377S,;ANNO=splicing:THBS2
6	169637890	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:THBS2:NM_003247:exon9:c.C1130T:p.S377L,;ANNO=splicing:THBS2
6	169640686	.	G	A	100	PASS	AC=40;STUDIES=7;MAC=40;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:THBS2:NM_003247:exon7:c.C893T:p.S298L,;ANNO=splicing:THBS2
6	170036466	.	C	A	100	PASS	AC=321;STUDIES=14;MAC=321;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR27(NM_182552:c.2003+1G>T,NM_001202550:c.1622+1G>T)
6	170049295	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDR27:NM_001202550:exon12:c.C1177T:p.R393W,WDR27:NM_182552:exon15:c.C1558T:p.R520W,;ANNO=splicing:WDR27
6	170151721	.	A	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:C6orf70
6	170151758	.	A	T	100	PASS	AC=31;STUDIES=2;MAC=31;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C6orf70:NM_018341:exon1:c.A5T:p.E2V,;ANNO=splicing:C6orf70
6	170162627	.	G	A	100	PASS	AC=35;STUDIES=5;MAC=35;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C6orf70:NM_018341:exon9:c.G960A:p.E320E,;ANNO=splicing:C6orf70
6	170597327	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DLL1:NM_005618:exon4:c.C670T:p.P224S,;ANNO=splicing:DLL1
6	170632167	.	G	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM120B:NM_032448:exon3:c.G1735T:p.V579F,;ANNO=splicing:FAM120B
7	591027	.	G	A	100	PASS	AC=19;STUDIES=4;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PRKAR1B:NM_001164759:exon10:c.C972T:p.F324F,PRKAR1B:NM_001164760:exon10:c.C972T:p.F324F,PRKAR1B:NM_001164762:exon10:c.C972T:p.F324F,PRKAR1B:NM_001164758:exon10:c.C972T:p.F324F,PRKAR1B:NM_001164761:exon10:c.C972T:p.F324F,PRKAR1B:NM_002735:exon10:c.C972T:p.F324F,;ANNO=splicing:PRKAR1B
7	716867	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PRKAR1B:NM_001164759:exon4:c.A439G:p.S147G,PRKAR1B:NM_001164760:exon4:c.A439G:p.S147G,PRKAR1B:NM_001164762:exon4:c.A439G:p.S147G,PRKAR1B:NM_001164758:exon4:c.A439G:p.S147G,PRKAR1B:NM_001164761:exon4:c.A439G:p.S147G,PRKAR1B:NM_002735:exon4:c.A439G:p.S147G,;ANNO=splicing:PRKAR1B
7	780456	.	G	A	100	PASS	AC=13;STUDIES=11;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HEATR2:NM_017802:exon3:c.G781A:p.V261I,;ANNO=splicing:HEATR2
7	796419	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HEATR2:NM_017802:exon6:c.T1258C:p.C420R,;ANNO=splicing:HEATR2
7	891121	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SUN1(NM_001130965:c.757+2T>G)
7	897594	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SUN1:NM_001130965:exon13:c.A1524T:p.R508S,SUN1:NM_025154:exon12:c.A1275T:p.R425S,SUN1:NM_001171944:exon11:c.A1215T:p.R405S,;ANNO=splicing:SUN1
7	925694	.	T	G	100	PASS	AC=50;STUDIES=3;MAC=50;MAF=0.081;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GET4:NM_015949:exon2:c.T157G:p.Y53D,;ANNO=splicing:GET4
7	1476378	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MICALL2:NM_182924:exon15:c.G2591A:p.R864Q,;ANNO=splicing:MICALL2
7	1476379	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MICALL2:NM_182924:exon15:c.C2590T:p.R864W,;ANNO=splicing:MICALL2
7	1477171	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MICALL2:NM_182924:exon14:c.G2476A:p.E826K,;ANNO=splicing:MICALL2
7	1482119	.	G	A	100	PASS	AC=222;STUDIES=11;MAC=222;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MICALL2:NM_182924:exon7:c.C1420T:p.P474S,;ANNO=splicing:MICALL2
7	1487401	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MICALL2:NM_182924:exon4:c.T335C:p.I112T,;ANNO=splicing:MICALL2
7	1520077	.	T	C	100	PASS	AC=64;STUDIES=14;MAC=64;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:INTS1:NM_001080453:exon30:c.A3950G:p.D1317G,;ANNO=splicing:INTS1
7	1521123	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:INTS1:NM_001080453:exon28:c.C3705G:p.A1235A,;ANNO=splicing:INTS1
7	1522183	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:INTS1:NM_001080453:exon27:c.C3702T:p.A1234A,;ANNO=splicing:INTS1
7	1522342	.	G	A	100	PASS	AC=283;STUDIES=13;MAC=283;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:INTS1:NM_001080453:exon27:c.C3543T:p.A1181A,;ANNO=splicing:INTS1
7	1586816	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TMEM184A:NM_001097620:exon9:c.C1014T:p.A338A,;ANNO=splicing:TMEM184A
7	1937837	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAD1L1:NM_001013836:exon18:c.A1997G:p.K666R,MAD1L1:NM_001013837:exon18:c.A1997G:p.K666R,MAD1L1:NM_003550:exon18:c.A1997G:p.K666R,;ANNO=splicing:MAD1L1
7	2108972	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MAD1L1:NM_001013836:exon12:c.G1075T:p.A359S,MAD1L1:NM_001013837:exon12:c.G1075T:p.A359S,MAD1L1:NM_003550:exon12:c.G1075T:p.A359S,;ANNO=splicing:MAD1L1
7	2289636	.	C	T	100	PASS	AC=245;STUDIES=21;MAC=245;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NUDT1:NM_198949:exon4:c.C366T:p.D122D,NUDT1:NM_198954:exon3:c.C366T:p.D122D,NUDT1:NM_198950:exon4:c.C297T:p.D99D,NUDT1:NM_198952:exon4:c.C366T:p.D122D,NUDT1:NM_198948:exon4:c.C297T:p.D99D,NUDT1:NM_002452:exon3:c.C297T:p.D99D,NUDT1:NM_198953:exon3:c.C297T:p.D99D,;ANNO=splicing:NUDT1
7	2405952	.	G	A	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EIF3B:NM_003751:exon7:c.G1158A:p.R386R,EIF3B:NM_001037283:exon7:c.G1158A:p.R386R,;ANNO=splicing:EIF3B
7	2583225	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BRAT1:NM_152743:exon5:c.C802T:p.R268C,;ANNO=splicing:BRAT1
7	2583596	.	C	T	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BRAT1:NM_152743:exon5:c.G431A:p.G144D,;ANNO=splicing:BRAT1
7	2584692	.	T	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BRAT1(NM_152743:c.282-2A>T)
7	2606797	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IQCE:NM_152558:exon2:c.G84A:p.T28T,;ANNO=splicing:IQCE
7	2608634	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IQCE(NM_152558:c.130+1G>A,NM_001100390:c.82+1G>A)
7	2617988	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IQCE:NM_152558:exon7:c.G578A:p.R193H,IQCE:NM_001100390:exon6:c.G530A:p.R177H,;ANNO=splicing:IQCE
7	2623271	.	C	G	100	PASS	AC=64;STUDIES=14;MAC=64;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IQCE:NM_152558:exon10:c.C702G:p.S234R,IQCE:NM_001100390:exon9:c.C654G:p.S218R,;ANNO=splicing:IQCE
7	2748223	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AMZ1:NM_133463:exon4:c.C474T:p.D158D,;ANNO=splicing:AMZ1
7	2748350	.	G	A	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AMZ1:NM_133463:exon4:c.G601A:p.E201K,;ANNO=splicing:AMZ1
7	2751963	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AMZ1(NM_133463:c.948-1G>C)
7	2951930	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CARD11:NM_032415:exon23:c.A3020G:p.D1007G,;ANNO=splicing:CARD11
7	4014001	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SDK1:NM_152744:exon13:c.C1818G:p.R606R,;ANNO=splicing:SDK1
7	4798847	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FOXK1:NM_001037165:exon6:c.C1410T:p.P470P,;ANNO=splicing:FOXK1
7	4825314	.	C	T	100	PASS	AC=826;STUDIES=19;MAC=826;MAF=0.047;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:KIAA0415:NM_014855:exon9:c.C1131T:p.H377H,;ANNO=splicing:KIAA0415
7	5112554	.	A	C	100	PASS	AC=5918;STUDIES=16;MAC=5918;MAF=0.350;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=splicing:RBAK-LOC389458
7	5112853	.	G	C	100	PASS	AC=227;STUDIES=4;MAC=227;MAF=0.041;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:RBAK-LOC389458
7	5269369	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:WIPI2:NM_015610:exon12:c.G1252A:p.A418T,WIPI2:NM_016003:exon11:c.G1198A:p.A400T,;ANNO=splicing:WIPI2
7	5347942	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TNRC18:NM_001080495:exon30:c.G8702A:p.R2901H,;ANNO=splicing:TNRC18
7	5541661	.	G	A	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:FBXL18:NM_024963:exon3:c.C239T:p.A80V,;ANNO=splicing:FBXL18
7	5633398	.	G	A	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:FSCN1:NM_003088:exon1:c.G831A:p.Q277Q,;ANNO=splicing:FSCN1
7	5643663	.	C	T	100	PASS	AC=19;STUDIES=3;MAC=19;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FSCN1(NM_003088:c.1279+2C>T)
7	5681007	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RNF216:NM_207116:exon15:c.T1989A:p.I663I,RNF216:NM_207111:exon15:c.T2160A:p.I720I,;ANNO=splicing:RNF216
7	5800769	.	A	G	100	PASS	AC=1942;STUDIES=2;MAC=32;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=splicing:RNF216
7	5922125	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OCM:NM_001097622:exon2:c.C63G:p.D21E,;ANNO=splicing:OCM
7	5998623	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:RSPH10B(NM_173565:c.659+1G>A)
7	6094177	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EIF2AK1:NM_001134335:exon2:c.C277T:p.L93L,EIF2AK1:NM_014413:exon2:c.C277T:p.L93L,;ANNO=splicing:EIF2AK1
7	6205176	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CYTH3:NM_004227:exon11:c.C972T:p.P324P,;ANNO=splicing:CYTH3
7	6431672	.	A	G	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:RAC1:NM_006908:exon3:c.A225G:p.T75T,RAC1:NM_018890:exon3:c.A225G:p.T75T,;ANNO=splicing:RAC1
7	6449761	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DAGLB:NM_139179:exon14:c.G1820A:p.R607Q,DAGLB:NM_001142936:exon12:c.G1433A:p.R478Q,;ANNO=splicing:DAGLB
7	6550540	.	G	A	100	PASS	AC=135;STUDIES=8;MAC=135;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GRID2IP:NM_001145118:exon9:c.C1554T:p.C518C,;ANNO=splicing:GRID2IP
7	6831629	.	G	C	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:RSPH10B2(NM_001099697:c.2233+1G>C)
7	7413177	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL28A1:NM_001037763:exon32:c.G2360A:p.G787D,;ANNO=splicing:COL28A1
7	7420292	.	G	C	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL28A1:NM_001037763:exon30:c.C2321G:p.T774R,;ANNO=splicing:COL28A1
7	7472264	.	G	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL28A1:NM_001037763:exon24:c.C1928A:p.P643H,;ANNO=splicing:COL28A1
7	7557470	.	T	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL28A1(NM_001037763:c.813-2A>T)
7	7559694	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL28A1:NM_001037763:exon6:c.C812T:p.P271L,;ANNO=splicing:COL28A1
7	7678701	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RPA3:NM_002947:exon6:c.C174A:p.P58P,;ANNO=splicing:RPA3
7	8043538	.	C	T	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GLCCI1:NM_138426:exon2:c.C458T:p.A153V,;ANNO=splicing:GLCCI1
7	8178679	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ICA1(NM_004968:c.955-2A>T,NM_022307:c.955-2A>T,NM_001136020:c.955-2A>T)
7	11450835	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:THSD7A:NM_015204:exon18:c.C3797T:p.A1266V,;ANNO=splicing:THSD7A
7	12375766	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VWDE(NM_001135924:c.4654+1G>A)
7	12376613	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VWDE(NM_001135924:c.4558+1G>A)
7	12395956	.	C	A	100	PASS	AC=27;STUDIES=2;MAC=27;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VWDE:NM_001135924:exon18:c.G3526T:p.V1176L,;ANNO=splicing:VWDE
7	12412604	.	G	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VWDE:NM_001135924:exon10:c.C1586A:p.T529K,;ANNO=splicing:VWDE
7	14017104	.	A	T	100	PASS	AC=46;STUDIES=9;MAC=46;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ETV1:NM_001163147:exon5:c.T183A:p.A61A,ETV1:NM_001163150:exon2:c.T63A:p.A21A,ETV1:NM_001163152:exon2:c.T63A:p.A21A,ETV1:NM_004956:exon6:c.T183A:p.A61A,;ANNO=splicing:ETV1
7	14669895	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DGKB:NM_145695:exon13:c.A1136T:p.Q379L,DGKB:NM_004080:exon13:c.A1136T:p.Q379L,;ANNO=splicing:DGKB
7	14775667	.	G	A	100	PASS	AC=40;STUDIES=9;MAC=40;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DGKB:NM_145695:exon4:c.C321T:p.G107G,DGKB:NM_004080:exon4:c.C321T:p.G107G,;ANNO=splicing:DGKB
7	15601344	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AGMO(NM_001004320:c.126+1G>T)
7	16640569	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ANKMY2:NM_020319:exon10:c.C1143T:p.H381H,;ANNO=splicing:ANKMY2
7	16900123	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AGR3(NM_176813:c.451+1G>T)
7	16901606	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AGR3(NM_176813:c.303+2T>C)
7	16901609	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AGR3:NM_176813:exon5:c.T302C:p.M101T,;ANNO=splicing:AGR3
7	16901685	.	C	T	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AGR3(NM_176813:c.226-1G>A)
7	17836451	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SNX13:NM_015132:exon25:c.A2625G:p.P875P,;ANNO=splicing:SNX13
7	17838381	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SNX13:NM_015132:exon24:c.A2445G:p.R815R,;ANNO=splicing:SNX13
7	17889971	.	T	C	100	PASS	AC=25;STUDIES=5;MAC=25;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SNX13:NM_015132:exon11:c.A1064G:p.K355R,;ANNO=splicing:SNX13
7	18801781	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HDAC9:NM_178423:exon15:c.G2036A:p.R679Q,HDAC9:NM_178425:exon14:c.G2045A:p.R682Q,HDAC9:NM_058176:exon14:c.G2036A:p.R679Q,;ANNO=splicing:HDAC9
7	18806778	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HDAC9:NM_178423:exon16:c.G2205T:p.G735G,HDAC9:NM_178425:exon15:c.G2214T:p.G738G,HDAC9:NM_058176:exon15:c.G2205T:p.G735G,;ANNO=splicing:HDAC9
7	20180780	.	A	C	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MACC1:NM_182762:exon7:c.T2348G:p.M783R,;ANNO=splicing:MACC1
7	20197826	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MACC1(NM_182762:c.2157+1G>A)
7	20666235	.	G	C	100	PASS	AC=576;STUDIES=11;MAC=576;MAF=0.054;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCB5(NM_001163941:c.108+1G>C)
7	20683255	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABCB5:NM_001163941:exon7:c.G678A:p.R226R,;ANNO=splicing:ABCB5
7	20691041	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCB5(NM_001163941:c.1332-2A>G)
7	20691246	.	T	C	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABCB5:NM_178559:exon4:c.T201C:p.N67N,ABCB5:NM_001163942:exon4:c.T201C:p.N67N,ABCB5:NM_001163993:exon4:c.T201C:p.N67N,ABCB5:NM_001163941:exon13:c.T1536C:p.N512N,;ANNO=splicing:ABCB5
7	20721129	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCB5:NM_178559:exon6:c.C374T:p.A125V,ABCB5:NM_001163941:exon15:c.C1709T:p.A570V,;ANNO=splicing:ABCB5
7	20768077	.	A	T	100	PASS	AC=895;STUDIES=21;MAC=895;MAF=0.038;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCB5:NM_178559:exon14:c.A1531T:p.I511L,ABCB5:NM_001163941:exon23:c.A2866T:p.I956L,;ANNO=splicing:ABCB5
7	21641236	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DNAH11:NM_003777:exon18:c.G3648A:p.E1216E,;ANNO=splicing:DNAH11
7	21646160	.	C	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DNAH11:NM_003777:exon19:c.C3765T:p.D1255D,;ANNO=splicing:DNAH11
7	21784489	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DNAH11:NM_003777:exon51:c.G8340A:p.R2780R,;ANNO=splicing:DNAH11
7	21904153	.	A	G	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAH11:NM_003777:exon70:c.A11396G:p.D3799G,;ANNO=splicing:DNAH11
7	21932044	.	C	T	100	PASS	AC=6402;STUDIES=17;MAC=6402;MAF=0.406;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:DNAH11:NM_003777:exon77:c.C12531T:p.D4177D,;ANNO=splicing:DNAH11
7	21940626	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAH11:NM_003777:exon82:c.C13327T:p.R4443C,;ANNO=splicing:DNAH11
7	22478374	.	C	T	100	PASS	AC=64;STUDIES=4;MAC=64;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STEAP1B:NM_001164460:exon5:c.G763A:p.A255T,;ANNO=splicing:STEAP1B
7	22533397	.	T	C	100	PASS	AC=338;STUDIES=6;MAC=338;MAF=0.079;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:STEAP1B:NM_001164460:exon3:c.A143G:p.Q48R,STEAP1B:NM_207342:exon3:c.A86G:p.Q29R,;ANNO=splicing:STEAP1B
7	23016426	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM126A:NM_032581:exon6:c.C416T:p.P139L,;ANNO=splicing:FAM126A
7	23235458	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NUPL2:NM_007342:exon4:c.G446T:p.G149V,;ANNO=splicing:NUPL2
7	23235533	.	A	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NUPL2:NM_007342:exon4:c.A521G:p.Y174C,;ANNO=splicing:NUPL2
7	23293788	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPNMB:NM_001005340:exon3:c.G224A:p.G75E,GPNMB:NM_002510:exon3:c.G224A:p.G75E,;ANNO=splicing:GPNMB
7	23740403	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C7orf46(NM_001127364:c.637-2A>G,NM_001127365:c.463-2A>G,NM_199136:c.745-2A>G)
7	23871756	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STK31:NM_001122833:exon24:c.A2762G:p.D921G,STK31:NM_032944:exon24:c.A2762G:p.D921G,STK31:NM_031414:exon24:c.A2831G:p.D944G,;ANNO=splicing:STK31
7	24747872	.	C	T	100	PASS	AC=12;STUDIES=9;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DFNA5:NM_001127453:exon7:c.G864A:p.A288A,DFNA5:NM_001127454:exon6:c.G372A:p.A124A,DFNA5:NM_004403:exon7:c.G864A:p.A288A,;ANNO=splicing:DFNA5
7	24747873	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:DFNA5:NM_001127453:exon7:c.C863T:p.A288V,DFNA5:NM_001127454:exon6:c.C371T:p.A124V,DFNA5:NM_004403:exon7:c.C863T:p.A288V,;ANNO=nonsynonymous:DFNA5:NM_001127453:exon7:c.C863A:p.A288E,DFNA5:NM_001127454:exon6:c.C371A:p.A124E,DFNA5:NM_004403:exon7:c.C863A:p.A288E,;ANNO=splicing:DFNA5;ANNO=splicing:DFNA5
7	24747873	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:DFNA5:NM_001127453:exon7:c.C863T:p.A288V,DFNA5:NM_001127454:exon6:c.C371T:p.A124V,DFNA5:NM_004403:exon7:c.C863T:p.A288V,;ANNO=nonsynonymous:DFNA5:NM_001127453:exon7:c.C863A:p.A288E,DFNA5:NM_001127454:exon6:c.C371A:p.A124E,DFNA5:NM_004403:exon7:c.C863A:p.A288E,;ANNO=splicing:DFNA5;ANNO=splicing:DFNA5
7	24756874	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DFNA5:NM_001127453:exon5:c.C696T:p.F232F,DFNA5:NM_001127454:exon4:c.C204T:p.F68F,DFNA5:NM_004403:exon5:c.C696T:p.F232F,;ANNO=splicing:DFNA5
7	24856230	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OSBPL3:NM_145321:exon17:c.G1918C:p.V640L,OSBPL3:NM_145322:exon16:c.G1825C:p.V609L,OSBPL3:NM_145320:exon17:c.G1933C:p.V645L,OSBPL3:NM_015550:exon18:c.G2026C:p.V676L,;ANNO=splicing:OSBPL3
7	24902911	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OSBPL3:NM_145321:exon9:c.G778A:p.G260S,OSBPL3:NM_015550:exon9:c.G778A:p.G260S,;ANNO=splicing:OSBPL3
7	25181861	.	G	A	100	PASS	AC=19;STUDIES=5;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C7orf31:NM_138811:exon9:c.C950T:p.P317L,;ANNO=splicing:C7orf31
7	27159136	.	G	C	100	PASS	AC=218;STUDIES=2;MAC=218;MAF=0.110;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:HOXA3
7	27835838	.	G	C	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TAX1BP1:NM_006024:exon12:c.G1638C:p.Q546H,TAX1BP1:NM_001206901:exon12:c.G1638C:p.Q546H,TAX1BP1:NM_001079864:exon12:c.G1638C:p.Q546H,TAX1BP1:NM_001206902:exon11:c.G1167C:p.Q389H,;ANNO=splicing:TAX1BP1
7	29111388	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CPVL(NM_019029:c.864+1G>T,NM_031311:c.864+1G>T)
7	29132319	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CPVL(NM_019029:c.462-1G>A,NM_031311:c.462-1G>A)
7	30795038	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:INMT:NM_006774:exon3:c.C363T:p.S121S,INMT:NM_001199219:exon3:c.C360T:p.S120S,;ANNO=splicing:INMT
7	30868352	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FAM188B:NM_032222:exon6:c.C1131T:p.L377L,;ANNO=splicing:FAM188B
7	30891833	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM188B:NM_032222:exon11:c.G1549A:p.A517T,;ANNO=splicing:FAM188B
7	31016937	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GHRHR:NM_000823:exon12:c.G1146A:p.E382E,;ANNO=splicing:GHRHR
7	31120229	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ADCYAP1R1:NM_001199636:exon5:c.C267T:p.V89V,ADCYAP1R1:NM_001199635:exon5:c.C267T:p.V89V,ADCYAP1R1:NM_001118:exon5:c.C267T:p.V89V,;ANNO=splicing:ADCYAP1R1
7	31614355	.	C	T	100	PASS	AC=20;STUDIES=6;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCDC129:NM_194300:exon7:c.C597T:p.Y199Y,;ANNO=splicing:CCDC129
7	31682295	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC129(NM_194300:c.1311-1G>A)
7	31683566	.	C	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC129:NM_194300:exon11:c.C2582A:p.S861Y,;ANNO=splicing:CCDC129
7	31735236	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C7orf16(NM_006658:c.235+1G>A)
7	31877485	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDE1C:NM_001191056:exon10:c.G1081A:p.A361T,PDE1C:NM_005020:exon11:c.G1081A:p.A361T,PDE1C:NM_001191059:exon11:c.G1081A:p.A361T,PDE1C:NM_001191058:exon11:c.G1261A:p.A421T,PDE1C:NM_001191057:exon10:c.G1081A:p.A361T,;ANNO=splicing:PDE1C
7	32110008	.	C	T	100	PASS	AC=39;STUDIES=3;MAC=39;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PDE1C
7	33192464	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BBS9(NM_014451:c.263+1G>A,NM_198428:c.263+1G>A,NM_001033605:c.263+1G>A,NM_001033604:c.263+1G>A)
7	33644587	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:BBS9:NM_001033605:exon21:c.G2617T:p.E873X,BBS9:NM_014451:exon20:c.G2512T:p.E838X,BBS9:NM_001033604:exon21:c.G2527T:p.E843X,BBS9:NM_198428:exon22:c.G2632T:p.E878X,;ANNO=splicing:BBS9
7	33976901	.	A	G	100	PASS	AC=44;STUDIES=14;MAC=44;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BMPER:NM_133468:exon3:c.A220G:p.N74D,;ANNO=splicing:BMPER
7	34851475	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NPSR1:NM_207172:exon4:c.G478A:p.E160K,NPSR1:NM_207173:exon4:c.G478A:p.E160K,;ANNO=splicing:NPSR1
7	37903064	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:TXNDC3:NM_016616:exon8:c.C454T:p.Q152X,;ANNO=splicing:TXNDC3
7	37907304	.	T	C	100	PASS	AC=16911;STUDIES=21;MAC=5575;MAF=0.248;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:TXNDC3:NM_016616:exon11:c.T622C:p.C208R,;ANNO=splicing:TXNDC3
7	37949282	.	C	T	100	PASS	AC=25;STUDIES=11;MAC=25;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SFRP4:NM_003014:exon5:c.G792A:p.R264R,;ANNO=splicing:SFRP4
7	38301820	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:TARP(NM_001003806:c.145-1G>A,NM_001003799:c.318-1G>A)
7	38313248	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:TARP
7	38469443	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AMPH:NM_139316:exon14:c.C1181T:p.P394L,AMPH:NM_001635:exon14:c.C1181T:p.P394L,;ANNO=splicing:AMPH
7	38471790	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AMPH:NM_139316:exon13:c.C1157T:p.T386M,AMPH:NM_001635:exon13:c.C1157T:p.T386M,;ANNO=splicing:AMPH
7	38803147	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VPS41:NM_014396:exon17:c.G1330A:p.A444T,VPS41:NM_080631:exon16:c.G1255A:p.A419T,;ANNO=splicing:VPS41
7	38807138	.	G	A	100	PASS	AC=74;STUDIES=13;MAC=74;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VPS41:NM_014396:exon15:c.C1246T:p.R416C,VPS41:NM_080631:exon14:c.C1171T:p.R391C,;ANNO=splicing:VPS41
7	38816280	.	G	A	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VPS41:NM_014396:exon11:c.C881T:p.T294M,VPS41:NM_080631:exon10:c.C806T:p.T269M,;ANNO=splicing:VPS41
7	38835211	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:VPS41:NM_014396:exon9:c.G571A:p.G191S,VPS41:NM_080631:exon8:c.G496A:p.G166S,;ANNO=splicing:VPS41
7	39125631	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:POU6F2:NM_007252:exon3:c.G190A:p.G64R,POU6F2:NM_001166018:exon3:c.G190A:p.G64R,;ANNO=splicing:POU6F2
7	39606003	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:C7orf36
7	40039098	.	T	G	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CDK13:NM_003718:exon4:c.T2181G:p.T727T,CDK13:NM_031267:exon4:c.T2181G:p.T727T,;ANNO=splicing:CDK13
7	40132385	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CDK13:NM_003718:exon13:c.A3237G:p.V1079V,;ANNO=splicing:CDK13
7	40220598	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C7orf10(NM_001193313:c.173+1G>A,NM_001193311:c.173+1G>A,NM_024728:c.173+1G>A,NM_001193312:c.173+1G>A)
7	40498796	.	C	T	100	PASS	AC=124;STUDIES=14;MAC=124;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C7orf10:NM_001193312:exon10:c.C862T:p.R288W,C7orf10:NM_001193313:exon11:c.C1006T:p.R336W,C7orf10:NM_024728:exon11:c.C895T:p.R299W,C7orf10:NM_001193311:exon11:c.C1006T:p.R336W,;ANNO=splicing:C7orf10
7	40535883	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C7orf10:NM_001193312:exon11:c.G864A:p.R288R,C7orf10:NM_001193313:exon12:c.G1008A:p.R336R,C7orf10:NM_024728:exon12:c.G897A:p.R299R,C7orf10:NM_001193311:exon12:c.G1008A:p.R336R,;ANNO=splicing:C7orf10
7	42951515	.	G	A	100	PASS	AC=1692;STUDIES=10;MAC=550;MAF=0.245;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=5;ANNO=nonsynonymous:C7orf25:NM_001099858:exon1:c.C152T:p.P51L,;ANNO=splicing:C7orf25
7	43495897	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HECW1:NM_015052:exon13:c.C2502T:p.N834N,;ANNO=splicing:HECW1
7	43506167	.	T	C	100	PASS	AC=127;STUDIES=13;MAC=127;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HECW1:NM_015052:exon15:c.T2913C:p.Y971Y,;ANNO=splicing:HECW1
7	43687233	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C7orf44:NM_018224:exon3:c.T16A:p.Y6N,;ANNO=splicing:C7orf44
7	43827503	.	C	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BLVRA:NM_000712:exon3:c.C13A:p.P5T,;ANNO=splicing:BLVRA
7	43908975	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MRPS24:NM_032014:exon2:c.G40T:p.V14L,URGCP-MRPS24:NM_001204871:exon5:c.G176T:p.G59V,;ANNO=splicing:MRPS24,URGCP-MRPS24
7	43921259	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=synonymous:URGCP:NM_001077664:exon5:c.A72C:p.T24T,URGCP:NM_017920:exon4:c.A174C:p.T58T,URGCP:NM_001077663:exon5:c.A201C:p.T67T,URGCP-MRPS24:NM_001204871:exon4:c.A174C:p.T58T,;ANNO=splicing:URGCP,URGCP-MRPS24
7	44100377	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=synonymous:DBNL:NM_014063:exon13:c.C1158T:p.A386A,DBNL:NM_001014436:exon13:c.C1155T:p.A385A,DBNL:NM_001122956:exon13:c.C1182T:p.A394A,;ANNO=splicing:DBNL
7	44104431	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PGAM2:NM_000290:exon2:c.G595T:p.G199W,;ANNO=splicing:PGAM2
7	44147299	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AEBP1:NM_001129:exon4:c.T739C:p.F247L,;ANNO=splicing:AEBP1
7	44268525	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:CAMK2B(NM_001220:c.1339-2A>T)
7	44796747	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZMIZ2:NM_174929:exon3:c.G367A:p.G123R,ZMIZ2:NM_031449:exon4:c.G367A:p.G123R,;ANNO=splicing:ZMIZ2
7	44874160	.	A	G	100	PASS	AC=40;STUDIES=3;MAC=40;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:H2AFV:NM_201516:exon4:c.T197C:p.V66A,;ANNO=splicing:H2AFV
7	45007335	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO1G:NM_033054:exon14:c.A1651G:p.T551A,;ANNO=splicing:MYO1G
7	45113170	.	G	A	100	PASS	AC=5033;STUDIES=22;MAC=5033;MAF=0.218;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCM2:NM_031443:exon8:c.G915A:p.T305T,CCM2:NM_001029835:exon8:c.G978A:p.T326T,CCM2:NM_001167935:exon6:c.G642A:p.T214T,CCM2:NM_001167934:exon7:c.G741A:p.T247T,;ANNO=splicing:CCM2
7	45141668	.	C	T	100	PASS	AC=35;STUDIES=12;MAC=35;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TBRG4:NM_199122:exon6:c.G993A:p.G331G,TBRG4:NM_030900:exon6:c.G993A:p.G331G,TBRG4:NM_004749:exon8:c.G1323A:p.G441G,;ANNO=splicing:TBRG4
7	45717468	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADCY1:NM_021116:exon9:c.C1606T:p.R536W,;ANNO=splicing:ADCY1
7	45747949	.	G	A	100	PASS	AC=274;STUDIES=19;MAC=274;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADCY1:NM_021116:exon18:c.G2818A:p.A940T,;ANNO=splicing:ADCY1
7	47333332	.	G	A	100	PASS	AC=336;STUDIES=16;MAC=336;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TNS3:NM_022748:exon25:c.C3771T:p.F1257F,;ANNO=splicing:TNS3
7	47481602	.	G	A	100	PASS	AC=1194;STUDIES=5;MAC=1194;MAF=0.487;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:TNS3
7	47832225	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PKD1L1:NM_138295:exon56:c.G8526C:p.E2842D,;ANNO=splicing:PKD1L1
7	47847987	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PKD1L1(NM_138295:c.7686-2A>G)
7	47869722	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PKD1L1:NM_138295:exon43:c.G6474A:p.R2158R,;ANNO=splicing:PKD1L1
7	47874840	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PKD1L1:NM_138295:exon38:c.C5945T:p.P1982L,;ANNO=splicing:PKD1L1
7	47917087	.	C	T	100	PASS	AC=1666;STUDIES=22;MAC=1666;MAF=0.069;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PKD1L1:NM_138295:exon22:c.G3663A:p.P1221P,;ANNO=splicing:PKD1L1
7	47921682	.	A	T	100	PASS	AC=7315;STUDIES=22;MAC=7315;MAF=0.302;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PKD1L1:NM_138295:exon20:c.T3267A:p.A1089A,;ANNO=splicing:PKD1L1
7	48019066	.	T	C	100	PASS	AC=40;STUDIES=5;MAC=40;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HUS1:NM_004507:exon1:c.A51G:p.T17T,;ANNO=splicing:HUS1
7	48045567	.	G	A	100	PASS	AC=37;STUDIES=6;MAC=37;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SUN3:NM_152782:exon7:c.C576T:p.A192A,SUN3:NM_001030019:exon6:c.C576T:p.A192A,;ANNO=splicing:SUN3
7	48128850	.	G	A	100	PASS	AC=1040;STUDIES=2;MAC=906;MAF=0.466;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UPP1
7	48258950	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCA13(NM_152701:c.287-1G>C)
7	48337963	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ABCA13:NM_152701:exon23:c.A9200G:p.D3067G,;ANNO=splicing:ABCA13
7	48451950	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCA13:NM_152701:exon41:c.C12229T:p.P4077S,;ANNO=splicing:ABCA13
7	48452181	.	G	T	100	PASS	AC=40;STUDIES=8;MAC=40;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCA13(NM_152701:c.12459+1G>T)
7	48494883	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCA13:NM_152701:exon43:c.G12815A:p.S4272N,;ANNO=splicing:ABCA13
7	48506642	.	A	G	100	PASS	AC=3429;STUDIES=20;MAC=3429;MAF=0.153;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:ABCA13:NM_152701:exon44:c.A12905G:p.Q4302R,;ANNO=splicing:ABCA13
7	50175760	.	T	G	100	PASS	AC=23;STUDIES=4;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C7orf72:NM_001161834:exon5:c.T934G:p.F312V,;ANNO=splicing:C7orf72
7	50571757	.	T	A	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DDC:NM_000790:exon7:c.A715T:p.M239L,DDC:NM_001082971:exon7:c.A715T:p.M239L,;ANNO=splicing:DDC
7	50800049	.	T	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:GRB10
7	51287641	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:COBL:NM_015198:exon2:c.G42A:p.G14G,;ANNO=splicing:COBL
7	55231426	.	T	C	100	PASS	AC=108;STUDIES=9;MAC=108;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EGFR:NM_201282:exon14:c.T1632C:p.G544G,EGFR:NM_005228:exon14:c.T1632C:p.G544G,EGFR:NM_201284:exon14:c.T1632C:p.G544G,;ANNO=splicing:EGFR
7	56084928	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:PSPH:NM_004577:exon6:c.C420T:p.N140N,;ANNO=splicing:PSPH
7	63529269	.	C	T	100	PASS	AC=32;STUDIES=3;MAC=32;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=stopgain:ZNF727:NM_001159522:exon2:c.C4T:p.R2X,;ANNO=splicing:ZNF727
7	63529988	.	G	A	100	PASS	AC=98;STUDIES=3;MAC=98;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF727(NM_001159522:c.226+1G>A)
7	64152339	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:ZNF107(NM_016220:c.19+1G>C,NM_001013746:c.19+1G>C)
7	65547439	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ASL(NM_000048:c.291+1G>T,NM_001024946:c.291+1G>T,NM_001024944:c.291+1G>T,NM_001024943:c.291+1G>T)
7	65548162	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ASL(NM_000048:c.446+1G>A,NM_001024946:c.446+1G>A,NM_001024944:c.446+1G>A,NM_001024943:c.446+1G>A)
7	65599361	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CRCP:NM_014478:exon4:c.A239T:p.K80I,CRCP:NM_001040647:exon3:c.A140T:p.K47I,CRCP:NM_001142414:exon3:c.A218T:p.K73I,;ANNO=splicing:CRCP
7	66459197	.	A	G	100	PASS	AC=73;STUDIES=11;MAC=73;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:SBDS(NM_016038:c.258+2T>C)
7	66460278	.	C	A	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:SBDS:NM_016038:exon1:c.G127T:p.V43L,;ANNO=splicing:SBDS
7	66648223	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TYW1:NM_018264:exon14:c.G1809A:p.K603K,;ANNO=splicing:TYW1
7	71571137	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CALN1:NM_031468:exon4:c.C387T:p.D129D,CALN1:NM_001017440:exon3:c.C261T:p.D87D,;ANNO=splicing:CALN1
7	72178756	.	C	A	100	PASS	AC=380;STUDIES=8;MAC=380;MAF=0.056;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:TYW1B:NM_001145441:exon8:c.G708T:p.R236S,TYW1B:NM_001145440:exon10:c.G1194T:p.R398S,;ANNO=splicing:TYW1B
7	73012042	.	G	A	100	PASS	AC=1950;STUDIES=20;MAC=1950;MAF=0.100;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:MLXIPL:NM_032952:exon9:c.C1073T:p.A358V,MLXIPL:NM_032953:exon9:c.C1073T:p.A358V,MLXIPL:NM_032951:exon9:c.C1073T:p.A358V,MLXIPL:NM_032954:exon9:c.C1073T:p.A358V,;ANNO=splicing:MLXIPL
7	73020440	.	G	A	100	PASS	AC=24;STUDIES=3;MAC=24;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:MLXIPL:NM_032952:exon6:c.C620T:p.A207V,MLXIPL:NM_032953:exon6:c.C620T:p.A207V,MLXIPL:NM_032951:exon6:c.C620T:p.A207V,MLXIPL:NM_032954:exon6:c.C620T:p.A207V,;ANNO=splicing:MLXIPL
7	73457314	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ELN:NM_001081755:exon7:c.G326A:p.G109D,ELN:NM_001081753:exon7:c.G326A:p.G109D,ELN:NM_001081752:exon6:c.G296A:p.G99D,ELN:NM_000501:exon7:c.G326A:p.G109D,ELN:NM_001081754:exon7:c.G326A:p.G109D,;ANNO=splicing:ELN
7	73462886	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ELN:NM_001081755:exon15:c.G799A:p.G267S,ELN:NM_001081753:exon15:c.G814A:p.G272S,ELN:NM_001081752:exon14:c.G769A:p.G257S,ELN:NM_000501:exon15:c.G799A:p.G267S,ELN:NM_001081754:exon15:c.G814A:p.G272S,;ANNO=splicing:ELN
7	73469098	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ELN:NM_001081755:exon19:c.C1149T:p.Y383Y,ELN:NM_001081753:exon19:c.C1164T:p.Y388Y,ELN:NM_001081752:exon18:c.C1119T:p.Y373Y,ELN:NM_000501:exon19:c.C1149T:p.Y383Y,ELN:NM_001081754:exon19:c.C1164T:p.Y388Y,;ANNO=splicing:ELN
7	73471003	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ELN:NM_001081755:exon21:c.C1317T:p.P439P,ELN:NM_001081753:exon21:c.C1332T:p.P444P,ELN:NM_001081752:exon20:c.C1287T:p.P429P,ELN:NM_000501:exon21:c.C1317T:p.P439P,ELN:NM_001081754:exon21:c.C1332T:p.P444P,;ANNO=splicing:ELN
7	73471042	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ELN:NM_001081755:exon21:c.C1356T:p.Y452Y,ELN:NM_001081753:exon21:c.C1371T:p.Y457Y,ELN:NM_001081752:exon20:c.C1326T:p.Y442Y,ELN:NM_000501:exon21:c.C1356T:p.Y452Y,ELN:NM_001081754:exon21:c.C1371T:p.Y457Y,;ANNO=splicing:ELN
7	73482987	.	G	A	100	PASS	AC=80;STUDIES=13;MAC=80;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ELN:NM_001081755:exon32:c.G2075A:p.G692D,ELN:NM_001081753:exon31:c.G2036A:p.G679D,ELN:NM_001081752:exon30:c.G1991A:p.G664D,ELN:NM_000501:exon33:c.G2132A:p.G711D,ELN:NM_001081754:exon32:c.G2093A:p.G698D,;ANNO=splicing:ELN
7	73513567	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LIMK1:NM_001204426:exon4:c.G505C:p.G169R,LIMK1:NM_002314:exon5:c.G607C:p.G203R,;ANNO=splicing:LIMK1
7	73530287	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LIMK1:NM_001204426:exon12:c.C1464T:p.N488N,LIMK1:NM_002314:exon13:c.C1566T:p.N522N,;ANNO=splicing:LIMK1
7	73631155	.	G	T	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LAT2:NM_032463:exon4:c.G95T:p.G32V,LAT2:NM_014146:exon3:c.G95T:p.G32V,LAT2:NM_032464:exon4:c.G95T:p.G32V,;ANNO=splicing:LAT2
7	73634075	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LAT2:NM_032463:exon5:c.C136T:p.R46C,LAT2:NM_014146:exon4:c.C136T:p.R46C,LAT2:NM_032464:exon5:c.C136T:p.R46C,;ANNO=splicing:LAT2
7	73635063	.	A	G	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LAT2:NM_032463:exon9:c.A331G:p.I111V,LAT2:NM_014146:exon8:c.A331G:p.I111V,LAT2:NM_032464:exon9:c.A331G:p.I111V,;ANNO=splicing:LAT2
7	73653317	.	G	A	100	PASS	AC=21;STUDIES=10;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RFC2:NM_181471:exon8:c.C695T:p.A232V,RFC2:NM_002914:exon7:c.C593T:p.A198V,;ANNO=splicing:RFC2
7	73657575	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RFC2:NM_181471:exon6:c.A436G:p.M146V,RFC2:NM_002914:exon5:c.A334G:p.M112V,;ANNO=splicing:RFC2
7	73973958	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:GTF2IRD1:NM_005685:exon22:c.C2293T:p.P765S,GTF2IRD1:NM_016328:exon22:c.C2338T:p.P780S,GTF2IRD1:NM_001199207:exon22:c.C2389T:p.P797S,;ANNO=splicing:GTF2IRD1
7	74197403	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:NCF1:NM_000265:exon6:c.C573T:p.S191S,;ANNO=splicing:NCF1
7	74482604	.	C	T	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:WBSCR16:NM_030798:exon3:c.G456A:p.T152T,;ANNO=splicing:WBSCR16
7	75130792	.	T	C	100	PASS	AC=20;STUDIES=4;MAC=20;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:SPDYE5:NM_001099435:exon5:c.T742C:p.W248R,;ANNO=splicing:SPDYE5
7	75177111	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HIP1:NM_005338:exon24:c.G2407A:p.E803K,;ANNO=splicing:HIP1
7	75182887	.	T	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HIP1:NM_005338:exon22:c.A2160G:p.S720S,;ANNO=splicing:HIP1
7	75221832	.	G	A	100	PASS	AC=12;STUDIES=7;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HIP1:NM_005338:exon3:c.C185T:p.T62M,;ANNO=splicing:HIP1
7	75616676	.	A	C	100	PASS	AC=38;STUDIES=2;MAC=38;MAF=0.100;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM120A(NM_031925:c.918+2T>G)
7	75618544	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM120A(NM_031925:c.317-2A>G)
7	75687396	.	G	A	100	PASS	AC=291;STUDIES=20;MAC=291;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MDH2:NM_005918:exon4:c.G429A:p.P143P,;ANNO=splicing:MDH2
7	75689816	.	G	A	100	PASS	AC=87;STUDIES=7;MAC=87;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MDH2:NM_005918:exon5:c.G555A:p.K185K,;ANNO=splicing:MDH2
7	75694121	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MDH2:NM_005918:exon8:c.C735T:p.G245G,;ANNO=splicing:MDH2
7	76062244	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZP3:NM_007155:exon4:c.G279T:p.R93S,ZP3:NM_001110354:exon3:c.G432T:p.R144S,;ANNO=splicing:ZP3
7	76121468	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:DTX2(NM_001102594:c.908-2A>G,NM_001102595:c.908-2A>G,NM_020892:c.908-2A>G,NM_001102596:c.908-2A>G)
7	76129758	.	G	A	100	PASS	AC=400;STUDIES=3;MAC=400;MAF=0.072;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:DTX2:NM_001102595:exon6:c.G1151A:p.G384E,DTX2:NM_001102594:exon7:c.G1151A:p.G384E,DTX2:NM_020892:exon8:c.G1151A:p.G384E,DTX2:NM_001102596:exon4:c.G1010A:p.G337E,;ANNO=splicing:DTX2
7	76247619	.	T	C	100	PASS	AC=32;STUDIES=5;MAC=32;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:POMZP3(NM_012230:c.227-2A>G,NM_152992:c.227-2A>G)
7	76903799	.	A	C	100	PASS	AC=105;STUDIES=16;MAC=105;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC146:NM_020879:exon11:c.A1270C:p.K424Q,;ANNO=splicing:CCDC146
7	76943687	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PION:NM_017439:exon27:c.G2209A:p.D737N,;ANNO=splicing:PION
7	77558425	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PHTF2(NM_001127358:c.1005-1G>T,NM_020432:c.1005-1G>T,NM_001127357:c.1017-1G>T)
7	80117849	.	A	C	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GNAT3(NM_001102386:c.303+2T>G)
7	80231504	.	G	C	100	PASS	AC=986;STUDIES=2;MAC=910;MAF=0.480;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:CD36
7	80290527	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD36(NM_001001547:c.429+1G>A,NM_000072:c.429+1G>A,NM_001001548:c.429+1G>A,NM_001127443:c.429+1G>A,NM_001127444:c.429+1G>A)
7	80290528	.	T	C	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD36(NM_001001547:c.429+2T>C,NM_000072:c.429+2T>C,NM_001001548:c.429+2T>C,NM_001127443:c.429+2T>C,NM_001127444:c.429+2T>C)
7	80292304	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD36(NM_001001547:c.429-2A>G,NM_000072:c.429-2A>G,NM_001001548:c.429-2A>G,NM_001127443:c.429-2A>G,NM_001127444:c.429-2A>G)
7	80302726	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD36(NM_001001547:c.1254+1G>A,NM_000072:c.1254+1G>A,NM_001001548:c.1254+1G>A,NM_001127443:c.1254+1G>A,NM_001127444:c.1254+1G>A)
7	80378343	.	T	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SEMA3C:NM_006379:exon17:c.A1713T:p.A571A,;ANNO=splicing:SEMA3C
7	80430074	.	T	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SEMA3C:NM_006379:exon10:c.A985G:p.S329G,;ANNO=splicing:SEMA3C
7	81596485	.	G	A	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CACNA2D1:NM_000722:exon31:c.C2502T:p.D834D,;ANNO=splicing:CACNA2D1
7	81714215	.	T	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CACNA2D1:NM_000722:exon7:c.A528C:p.S176S,;ANNO=splicing:CACNA2D1
7	84666348	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SEMA3D:NM_152754:exon10:c.T1048C:p.S350P,;ANNO=splicing:SEMA3D
7	84694741	.	A	G	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SEMA3D:NM_152754:exon6:c.T717C:p.N239N,;ANNO=splicing:SEMA3D
7	86479859	.	G	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GRM3:NM_000840:exon5:c.G2565T:p.Q855H,;ANNO=splicing:GRM3
7	86542256	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA1324L(NM_001142749:c.1995+1G>T,NM_152748:c.1494+1G>T)
7	86554972	.	T	G	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1324L:NM_152748:exon9:c.A770C:p.E257A,KIAA1324L:NM_001142749:exon10:c.A1271C:p.E424A,;ANNO=splicing:KIAA1324L
7	86795921	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DMTF1:NM_001142327:exon4:c.C232T:p.L78F,DMTF1:NM_021145:exon6:c.C232T:p.L78F,;ANNO=splicing:DMTF1
7	86822669	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DMTF1:NM_001142327:exon15:c.C1650T:p.S550S,DMTF1:NM_001142326:exon14:c.C1386T:p.S462S,DMTF1:NM_021145:exon17:c.C1650T:p.S550S,;ANNO=splicing:DMTF1
7	87005269	.	G	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CROT:NM_021151:exon9:c.G876C:p.E292D,CROT:NM_001143935:exon10:c.G960C:p.E320D,;ANNO=splicing:CROT
7	87022264	.	C	A	100	PASS	AC=40;STUDIES=5;MAC=40;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CROT:NM_021151:exon17:c.C1599A:p.S533R,CROT:NM_001143935:exon18:c.C1683A:p.S561R,;ANNO=splicing:CROT
7	87473070	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC25A40:NM_018843:exon9:c.C740G:p.S247C,;ANNO=splicing:SLC25A40
7	87754974	.	G	A	100	PASS	AC=24;STUDIES=5;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ADAM22:NM_021722:exon8:c.G678A:p.Q226Q,ADAM22:NM_004194:exon8:c.G678A:p.Q226Q,ADAM22:NM_021721:exon8:c.G678A:p.Q226Q,ADAM22:NM_021723:exon8:c.G678A:p.Q226Q,ADAM22:NM_016351:exon8:c.G678A:p.Q226Q,;ANNO=splicing:ADAM22
7	87780346	.	G	A	100	PASS	AC=57;STUDIES=6;MAC=57;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ADAM22:NM_021722:exon19:c.G1617A:p.Q539Q,ADAM22:NM_004194:exon19:c.G1617A:p.Q539Q,ADAM22:NM_021721:exon19:c.G1617A:p.Q539Q,ADAM22:NM_021723:exon19:c.G1617A:p.Q539Q,ADAM22:NM_016351:exon19:c.G1617A:p.Q539Q,;ANNO=splicing:ADAM22
7	89937168	.	G	A	100	PASS	AC=238;STUDIES=17;MAC=238;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C7orf63:NM_001160138:exon21:c.G2496A:p.K832K,C7orf63:NM_001039706:exon21:c.G2550A:p.K850K,;ANNO=splicing:C7orf63
7	89938680	.	C	T	100	PASS	AC=9190;STUDIES=18;MAC=7636;MAF=0.454;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:C7orf63:NM_001160138:exon22:c.C2600T:p.T867M,C7orf63:NM_001039706:exon22:c.C2654T:p.T885M,;ANNO=splicing:C7orf63
7	91682040	.	T	G	100	PASS	AC=14;STUDIES=10;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AKAP9:NM_147185:exon22:c.T5369G:p.V1790G,AKAP9:NM_005751:exon22:c.T5369G:p.V1790G,;ANNO=splicing:AKAP9
7	91753166	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CYP51A1:NM_000786:exon6:c.C772T:p.R258C,CYP51A1:NM_001146152:exon6:c.C457T:p.R153C,;ANNO=splicing:CYP51A1
7	91758195	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CYP51A1:NM_000786:exon3:c.C467T:p.P156L,CYP51A1:NM_001146152:exon3:c.C152T:p.P51L,;ANNO=splicing:CYP51A1
7	91867072	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KRIT1:NM_194455:exon6:c.A264G:p.G88G,KRIT1:NM_001013406:exon5:c.A264G:p.G88G,KRIT1:NM_004912:exon6:c.A264G:p.G88G,KRIT1:NM_194454:exon6:c.A264G:p.G88G,KRIT1:NM_194456:exon7:c.A264G:p.G88G,;ANNO=splicing:KRIT1
7	92078190	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GATAD1:NM_021167:exon2:c.A374T:p.N125I,;ANNO=splicing:GATAD1
7	92122443	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PEX1:NM_000466:exon20:c.G3031A:p.V1011M,;ANNO=splicing:PEX1
7	92848413	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HEPACAM2(NM_198151:c.394+1G>A,NM_001039372:c.430+1G>A)
7	93090133	.	C	T	100	PASS	AC=679;STUDIES=12;MAC=679;MAF=0.053;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CALCR:NM_001742:exon8:c.G648A:p.P216P,CALCR:NM_001164738:exon7:c.G648A:p.P216P,CALCR:NM_001164737:exon10:c.G750A:p.P250P,;ANNO=splicing:CALCR
7	93116243	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CALCR:NM_001742:exon3:c.T51C:p.N17N,CALCR:NM_001164738:exon2:c.T51C:p.N17N,CALCR:NM_001164737:exon4:c.T105C:p.N35N,;ANNO=splicing:CALCR
7	94042447	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL1A2:NM_000089:exon26:c.G1556A:p.R519Q,;ANNO=splicing:COL1A2
7	94048862	.	G	A	100	PASS	AC=49;STUDIES=11;MAC=49;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL1A2:NM_000089:exon34:c.G2078A:p.R693Q,;ANNO=splicing:COL1A2
7	94944635	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PON1:NM_000446:exon4:c.A369G:p.E123E,;ANNO=splicing:PON1
7	94947635	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PON1:NM_000446:exon2:c.G145A:p.E49K,;ANNO=splicing:PON1
7	94991674	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PON3:NM_000940:exon8:c.A906G:p.E302E,;ANNO=splicing:PON3
7	94993374	.	C	T	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PON3:NM_000940:exon6:c.G496A:p.V166M,;ANNO=splicing:PON3
7	95041788	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PON2:NM_000305:exon4:c.G203A:p.G68D,PON2:NM_001018161:exon4:c.G203A:p.G68D,;ANNO=splicing:PON2
7	95800784	.	T	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC25A13:NM_014251:exon12:c.A1230C:p.T410T,SLC25A13:NM_001160210:exon12:c.A1233C:p.T411T,;ANNO=splicing:SLC25A13
7	95813588	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC25A13(NM_001160210:c.1180+1G>A,NM_014251:c.1177+1G>A)
7	97870556	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TECPR1:NM_015395:exon7:c.G658A:p.V220M,;ANNO=splicing:TECPR1
7	97874379	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TECPR1:NM_015395:exon4:c.C226T:p.R76C,;ANNO=splicing:TECPR1
7	97991670	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:BAIAP2L1:NM_018842:exon2:c.C126T:p.N42N,;ANNO=splicing:BAIAP2L1
7	98446205	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM130(NM_001134450:c.1119+1G>A,NM_001134451:c.813+1G>A,NM_152913:c.1119+1G>A)
7	98491422	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRRAP:NM_003496:exon6:c.C368T:p.T123M,;ANNO=splicing:TRRAP
7	98652413	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SMURF1:NM_020429:exon6:c.G479C:p.G160A,SMURF1:NM_181349:exon6:c.G479C:p.G160A,SMURF1:NM_001199847:exon6:c.G479C:p.G160A,;ANNO=splicing:SMURF1
7	98775688	.	G	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KPNA7:NM_001145715:exon9:c.C1319T:p.A440V,;ANNO=splicing:KPNA7
7	99017771	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PTCD1:NM_015545:exon8:c.A1922G:p.Y641C,ATP5J2-PTCD1:NM_001198879:exon9:c.A2069G:p.Y690C,;ANNO=splicing:ATP5J2-PTCD1,PTCD1
7	99023238	.	A	C	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTCD1:NM_015545:exon6:c.T917G:p.V306G,ATP5J2-PTCD1:NM_001198879:exon7:c.T1064G:p.V355G,;ANNO=splicing:ATP5J2-PTCD1,PTCD1
7	99056770	.	T	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ATP5J2:NM_001003713:exon3:c.A238C:p.K80Q,ATP5J2:NM_004889:exon3:c.A256C:p.K86Q,;ANNO=splicing:ATP5J2
7	99104080	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZKSCAN5:NM_145102:exon2:c.A413G:p.Q138R,ZKSCAN5:NM_014569:exon2:c.A413G:p.Q138R,;ANNO=splicing:ZKSCAN5
7	99110213	.	T	C	100	PASS	AC=154;STUDIES=12;MAC=154;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZKSCAN5:NM_145102:exon3:c.T552C:p.N184N,ZKSCAN5:NM_014569:exon3:c.T552C:p.N184N,;ANNO=splicing:ZKSCAN5
7	99160117	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZNF655:NM_024061:exon4:c.G349C:p.G117R,ZNF655:NM_001085367:exon4:c.G349C:p.G117R,;ANNO=splicing:ZNF655
7	99161485	.	G	A	100	PASS	AC=65;STUDIES=14;MAC=65;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF655(NM_001085366:c.136-1G>A,NM_024061:c.349-1G>A,NM_001085367:c.349-1G>A,NM_001009958:c.136-1G>A)
7	99208014	.	A	G	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LOC100289187(NM_001195541:c.493-2A>G,NM_001195543:c.493-2A>G,NM_001195542:c.493-2A>G)
7	99264573	.	A	G	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:CYP3A5(NM_000777:c.432+2T>C)
7	99313528	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:CYP3A7:NM_000765:exon7:c.G523A:p.V175I,;ANNO=splicing:CYP3A7
7	99314801	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CYP3A7:NM_000765:exon6:c.C520G:p.H174D,;ANNO=splicing:CYP3A7
7	99367392	.	C	G	100	PASS	AC=44;STUDIES=12;MAC=44;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CYP3A4:NM_017460:exon6:c.G520C:p.D174H,CYP3A4:NM_001202855:exon6:c.G520C:p.D174H,;ANNO=splicing:CYP3A4
7	99375702	.	C	T	100	PASS	AC=14;STUDIES=10;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:CYP3A4:NM_017460:exon3:c.G167A:p.G56D,CYP3A4:NM_001202855:exon3:c.G167A:p.G56D,;ANNO=splicing:CYP3A4
7	99436743	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CYP3A43:NM_057096:exon3:c.G166C:p.G56R,CYP3A43:NM_022820:exon3:c.G166C:p.G56R,CYP3A43:NM_057095:exon3:c.G166C:p.G56R,;ANNO=splicing:CYP3A43
7	99461160	.	G	T	100	PASS	AC=57;STUDIES=6;MAC=57;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CYP3A43:NM_022820:exon12:c.G1257T:p.R419S,CYP3A43:NM_057095:exon12:c.G1254T:p.R418S,;ANNO=splicing:CYP3A43
7	99526464	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GJC3:NM_181538:exon1:c.A780C:p.A260A,;ANNO=splicing:GJC3
7	99527243	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GJC3:NM_181538:exon1:c.A1G:p.M1V,;ANNO=splicing:GJC3
7	99569370	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AZGP1:NM_001185:exon2:c.C336T:p.N112N,;ANNO=splicing:AZGP1
7	99627484	.	C	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZKSCAN1:NM_003439:exon4:c.C581G:p.A194G,;ANNO=splicing:ZKSCAN1
7	99688952	.	G	A	100	PASS	AC=139;STUDIES=17;MAC=139;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COPS6:NM_006833:exon8:c.G741A:p.A247A,;ANNO=splicing:COPS6
7	99693397	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MCM7:NM_182776:exon10:c.G1067A:p.R356Q,MCM7:NM_005916:exon11:c.G1595A:p.R532Q,;ANNO=splicing:MCM7
7	99703582	.	G	A	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AP4M1:NM_004722:exon12:c.G930A:p.R310R,;ANNO=splicing:AP4M1
7	99720405	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CNPY4(NM_152755:c.342-2A>C)
7	99768106	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GPC2:NM_152742:exon10:c.A1487G:p.D496G,;ANNO=splicing:GPC2
7	99796885	.	C	T	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STAG3:NM_012447:exon15:c.C1468T:p.L490F,;ANNO=splicing:STAG3
7	99809499	.	G	A	100	PASS	AC=17;STUDIES=11;MAC=17;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STAG3:NM_012447:exon32:c.G3597A:p.M1199I,;ANNO=splicing:STAG3
7	99818295	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:PVRIG:NM_024070:exon4:c.C595T:p.R199C,;ANNO=splicing:PVRIG
7	99905325	.	C	T	100	PASS	AC=279;STUDIES=3;MAC=279;MAF=0.140;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=splicing:SPDYE3
7	99995536	.	G	C	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:PILRA(NM_013439:c.707+1G>C,NM_178272:c.488+1G>C)
7	100004852	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZCWPW1:NM_017984:exon11:c.C1064T:p.P355L,;ANNO=splicing:ZCWPW1
7	100007051	.	C	T	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZCWPW1:NM_017984:exon9:c.G868A:p.D290N,;ANNO=splicing:ZCWPW1
7	100007167	.	C	A	100	PASS	AC=31;STUDIES=7;MAC=31;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZCWPW1:NM_017984:exon9:c.G752T:p.G251V,;ANNO=splicing:ZCWPW1
7	100033389	.	C	T	100	PASS	AC=62;STUDIES=9;MAC=62;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C7orf47:NM_145030:exon3:c.G453A:p.G151G,;ANNO=splicing:C7orf47
7	100205261	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PCOLCE:NM_002593:exon8:c.G1014A:p.V338V,;ANNO=splicing:PCOLCE
7	100211329	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MOSPD3:NM_001040098:exon4:c.C511T:p.H171Y,MOSPD3:NM_023948:exon3:c.C511T:p.H171Y,MOSPD3:NM_001040097:exon4:c.C511T:p.H171Y,MOSPD3:NM_001040099:exon3:c.C481T:p.H161Y,;ANNO=splicing:MOSPD3
7	100224387	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TFR2:NM_003227:exon17:c.G2135A:p.R712Q,TFR2:NM_001206855:exon14:c.G1622A:p.R541Q,;ANNO=splicing:TFR2
7	100225847	.	C	T	100	PASS	AC=104;STUDIES=14;MAC=104;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TFR2:NM_003227:exon11:c.G1473A:p.E491E,TFR2:NM_001206855:exon8:c.G960A:p.E320E,;ANNO=splicing:TFR2
7	100275376	.	G	A	100	PASS	AC=55;STUDIES=5;MAC=55;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GNB2:NM_005273:exon7:c.G432A:p.G144G,;ANNO=splicing:GNB2
7	100279946	.	G	A	100	PASS	AC=594;STUDIES=20;MAC=594;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GIGYF1:NM_022574:exon21:c.C2760T:p.D920D,;ANNO=splicing:GIGYF1
7	100346094	.	G	A	100	PASS	AC=411;STUDIES=12;MAC=411;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZAN(NM_003386:c.1249+1G>A,NM_173059:c.1249+1G>A)
7	100348890	.	G	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZAN(NM_003386:c.1606+1G>T,NM_173059:c.1606+1G>T)
7	100349336	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZAN:NM_173059:exon14:c.A1608G:p.V536V,ZAN:NM_003386:exon14:c.A1608G:p.V536V,;ANNO=splicing:ZAN
7	100358158	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZAN:NM_173059:exon19:c.A3841G:p.S1281G,ZAN:NM_003386:exon19:c.A3841G:p.S1281G,;ANNO=splicing:ZAN
7	100361819	.	C	T	100	PASS	AC=287;STUDIES=7;MAC=287;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZAN:NM_173059:exon22:c.C4267T:p.P1423S,ZAN:NM_003386:exon22:c.C4267T:p.P1423S,;ANNO=splicing:ZAN
7	100369644	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZAN(NM_003386:c.5425+1G>C,NM_173059:c.5425+1G>C)
7	100377373	.	G	A	100	PASS	AC=3173;STUDIES=9;MAC=3173;MAF=0.277;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=3;ANNO=splicing:ZAN(NM_003386:c.6621+1G>A,NM_173059:c.6621+1G>A)
7	100390165	.	C	T	100	PASS	AC=43;STUDIES=7;MAC=43;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZAN:NM_173059:exon42:c.C7850T:p.A2617V,;ANNO=splicing:ZAN
7	100390166	.	G	A	100	PASS	AC=19;STUDIES=4;MAC=19;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZAN:NM_173059:exon42:c.G7851A:p.A2617A,;ANNO=splicing:ZAN
7	100403123	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EPHB4:NM_004444:exon15:c.G2678T:p.G893V,;ANNO=splicing:EPHB4
7	100403124	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EPHB4:NM_004444:exon15:c.G2677A:p.G893R,;ANNO=splicing:EPHB4
7	100453458	.	C	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC12A9:NM_020246:exon4:c.C447T:p.A149A,;ANNO=splicing:SLC12A9
7	100454797	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:SLC12A9:NM_020246:exon5:c.C756T:p.G252G,;ANNO=splicing:SLC12A9
7	100457773	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC12A9:NM_020246:exon9:c.C1137T:p.G379G,;ANNO=splicing:SLC12A9
7	100459532	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC12A9:NM_020246:exon12:c.C1710T:p.L570L,;ANNO=splicing:SLC12A9
7	100481990	.	C	T	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SRRT:NM_001128852:exon7:c.C759T:p.A253A,SRRT:NM_001128854:exon7:c.C759T:p.A253A,SRRT:NM_015908:exon7:c.C759T:p.A253A,SRRT:NM_001128853:exon7:c.C759T:p.A253A,;ANNO=splicing:SRRT
7	100486285	.	G	T	100	PASS	AC=54;STUDIES=3;MAC=54;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:SRRT
7	100612969	.	A	G	100	PASS	AC=378;STUDIES=3;MAC=378;MAF=0.213;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:MUC12:NM_001164462:exon1:c.A66G:p.P22P,;ANNO=splicing:MUC12
7	100692603	.	A	C	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MUC17(NM_001040105:c.12663-2A>C)
7	100696427	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MUC17:NM_001040105:exon10:c.C13264T:p.R4422W,;ANNO=splicing:MUC17
7	100771765	.	G	A	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SERPINE1:NM_000602:exon2:c.G91A:p.V31M,;ANNO=splicing:SERPINE1(NM_001165413:c.90+1G>A)
7	100841646	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MOGAT3:NM_178176:exon5:c.G494C:p.G165A,;ANNO=splicing:MOGAT3
7	100853611	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLOD3(NM_001084:c.1614+1G>A)
7	100853612	.	G	A	100	PASS	AC=7;STUDIES=7;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLOD3:NM_001084:exon14:c.C1614T:p.V538V,;ANNO=splicing:PLOD3
7	100877560	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CLDN15:NM_014343:exon2:c.C381T:p.A127A,CLDN15:NM_001185080:exon3:c.C381T:p.A127A,;ANNO=splicing:CLDN15
7	100884186	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FIS1:NM_016068:exon3:c.G180A:p.E60E,;ANNO=splicing:FIS1
7	100962343	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:RABL5
7	101183330	.	G	A	100	PASS	AC=22;STUDIES=8;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EMID2:NM_133457:exon5:c.G598A:p.G200R,;ANNO=splicing:EMID2
7	101187376	.	T	A	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EMID2:NM_133457:exon6:c.T696A:p.P232P,;ANNO=splicing:EMID2
7	101194424	.	C	T	100	PASS	AC=3165;STUDIES=12;MAC=3165;MAF=0.332;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=5;ANNO=synonymous:EMID2:NM_133457:exon10:c.C1023T:p.S341S,;ANNO=splicing:EMID2
7	101265377	.	C	G	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYL10:NM_138403:exon5:c.G453C:p.K151N,;ANNO=splicing:MYL10
7	101870948	.	C	T	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CUX1:NM_181552:exon21:c.C3432T:p.L1144L,CUX1:NM_001202543:exon21:c.C3465T:p.L1155L,;ANNO=splicing:CUX1
7	101918630	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CUX1:NM_001202545:exon16:c.C1425T:p.A475A,CUX1:NM_181500:exon17:c.C1557T:p.A519A,CUX1:NM_001202544:exon16:c.C1515T:p.A505A,CUX1:NM_001913:exon17:c.C1563T:p.A521A,CUX1:NM_001202546:exon16:c.C1446T:p.A482A,;ANNO=splicing:CUX1
7	101921335	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CUX1:NM_001202545:exon17:c.G1541A:p.R514Q,CUX1:NM_181500:exon18:c.G1673A:p.R558Q,CUX1:NM_001202544:exon17:c.G1631A:p.R544Q,CUX1:NM_001913:exon18:c.G1679A:p.R560Q,CUX1:NM_001202546:exon17:c.G1562A:p.R521Q,;ANNO=splicing:CUX1
7	101923411	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CUX1:NM_001202545:exon18:c.G1625A:p.R542Q,CUX1:NM_181500:exon19:c.G1757A:p.R586Q,CUX1:NM_001202544:exon18:c.G1715A:p.R572Q,CUX1:NM_001913:exon19:c.G1763A:p.R588Q,CUX1:NM_001202546:exon18:c.G1646A:p.R549Q,;ANNO=splicing:CUX1
7	102040094	.	A	G	100	PASS	AC=67;STUDIES=14;MAC=67;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PRKRIP1:NM_024653:exon3:c.A305G:p.K102R,;ANNO=splicing:PRKRIP1
7	102106601	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRWD1:NM_152892:exon3:c.G316C:p.V106L,;ANNO=splicing:LRWD1
7	102109101	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LRWD1:NM_152892:exon8:c.G1020A:p.E340E,;ANNO=splicing:LRWD1
7	102309361	.	C	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:POLR2J2(NM_032959:c.140+1G>T)
7	102523916	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FBXL13(NM_145032:c.1225-2A>G,NM_001111038:c.1225-2A>G)
7	103017309	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC26A5:NM_206883:exon19:c.A1987G:p.I663V,SLC26A5:NM_001167962:exon18:c.A1891G:p.I631V,SLC26A5:NM_198999:exon19:c.A1987G:p.I663V,;ANNO=splicing:SLC26A5
7	103029560	.	G	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC26A5:NM_206884:exon14:c.C1409A:p.T470N,SLC26A5:NM_206883:exon14:c.C1409A:p.T470N,SLC26A5:NM_001167962:exon13:c.C1313A:p.T438N,SLC26A5:NM_198999:exon14:c.C1409A:p.T470N,;ANNO=splicing:SLC26A5
7	103053559	.	C	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC26A5:NM_206884:exon5:c.G293T:p.G98V,SLC26A5:NM_206883:exon5:c.G293T:p.G98V,SLC26A5:NM_206885:exon5:c.G293T:p.G98V,SLC26A5:NM_001167962:exon5:c.G293T:p.G98V,SLC26A5:NM_198999:exon5:c.G293T:p.G98V,;ANNO=splicing:SLC26A5
7	103061810	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC26A5:NM_206884:exon3:c.C152T:p.T51I,SLC26A5:NM_206883:exon3:c.C152T:p.T51I,SLC26A5:NM_206885:exon3:c.C152T:p.T51I,SLC26A5:NM_001167962:exon3:c.C152T:p.T51I,SLC26A5:NM_198999:exon3:c.C152T:p.T51I,;ANNO=splicing:SLC26A5
7	103062016	.	T	C	100	PASS	AC=20;STUDIES=2;MAC=20;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC26A5
7	103194107	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RELN:NM_005045:exon39:c.C5969T:p.P1990L,RELN:NM_173054:exon39:c.C5969T:p.P1990L,;ANNO=splicing:RELN
7	103197425	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RELN:NM_005045:exon38:c.C5796T:p.N1932N,RELN:NM_173054:exon38:c.C5796T:p.N1932N,;ANNO=splicing:RELN
7	103234329	.	T	G	100	PASS	AC=169;STUDIES=11;MAC=169;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RELN:NM_005045:exon27:c.A3712C:p.N1238H,RELN:NM_173054:exon27:c.A3712C:p.N1238H,;ANNO=splicing:RELN
7	103393630	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RELN:NM_005045:exon5:c.A576G:p.L192L,RELN:NM_173054:exon5:c.A576G:p.L192L,;ANNO=splicing:RELN
7	104707174	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MLL5:NM_182931:exon6:c.C417T:p.S139S,MLL5:NM_018682:exon5:c.C417T:p.S139S,;ANNO=splicing:MLL5
7	104717411	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MLL5:NM_182931:exon10:c.G770A:p.G257D,MLL5:NM_018682:exon9:c.G770A:p.G257D,;ANNO=splicing:MLL5
7	105029238	.	C	T	100	PASS	AC=42;STUDIES=2;MAC=42;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SRPK2:NM_182692:exon1:c.G16A:p.V6M,;ANNO=splicing:SRPK2
7	105172803	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RINT1:NM_021930:exon1:c.C41T:p.P14L,;ANNO=splicing:RINT1
7	105205977	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RINT1:NM_021930:exon14:c.A2068G:p.I690V,;ANNO=splicing:RINT1
7	105429051	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ATXN7L1:NM_020725:exon3:c.C354T:p.C118C,ATXN7L1:NM_152749:exon3:c.C354T:p.C118C,;ANNO=splicing:ATXN7L1
7	105603809	.	A	G	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CDHR3:NM_152750:exon1:c.A45G:p.S15S,;ANNO=splicing:CDHR3
7	105656471	.	G	A	100	PASS	AC=90;STUDIES=18;MAC=90;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CDHR3:NM_152750:exon11:c.G1426A:p.A476T,;ANNO=splicing:CDHR3
7	105893463	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NAMPT:NM_005746:exon10:c.G1365A:p.Q455Q,;ANNO=splicing:NAMPT
7	106921844	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:COG5:NM_001161520:exon14:c.T1569C:p.S523S,COG5:NM_006348:exon14:c.T1569C:p.S523S,COG5:NM_181733:exon14:c.T1569C:p.S523S,;ANNO=splicing:COG5
7	107217036	.	T	C	100	PASS	AC=14;STUDIES=6;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DUS4L:NM_181581:exon7:c.T705C:p.D235D,;ANNO=splicing:DUS4L
7	107315554	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC26A4:NM_000441:exon6:c.T765C:p.Y255Y,;ANNO=splicing:SLC26A4
7	107323901	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC26A4:NM_000441:exon8:c.C920T:p.T307M,;ANNO=splicing:SLC26A4
7	107323983	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC26A4(NM_000441:c.1001+1G>A)
7	107329499	.	T	C	100	PASS	AC=23;STUDIES=8;MAC=23;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC26A4:NM_000441:exon9:c.T1003C:p.F335L,;ANNO=splicing:SLC26A4
7	107338556	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC26A4:NM_000441:exon14:c.C1614T:p.N538N,;ANNO=splicing:SLC26A4
7	107340529	.	T	C	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC26A4:NM_000441:exon15:c.T1616C:p.I539T,;ANNO=splicing:SLC26A4
7	107412499	.	C	G	100	PASS	AC=36;STUDIES=8;MAC=36;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC26A3:NM_000111:exon18:c.G2062C:p.D688H,;ANNO=splicing:SLC26A3
7	107545948	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DLD:NM_000108:exon7:c.C581T:p.T194M,;ANNO=splicing:DLD
7	107555951	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DLD:NM_000108:exon9:c.G685T:p.G229C,;ANNO=splicing:DLD
7	107556141	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DLD:NM_000108:exon9:c.C875T:p.S292F,;ANNO=splicing:DLD
7	107575859	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LAMB1(NM_002291:c.4188+1G>C)
7	107599692	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LAMB1(NM_002291:c.2690+2T>C)
7	107600136	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LAMB1:NM_002291:exon19:c.C2458T:p.P820S,;ANNO=splicing:LAMB1
7	107674791	.	C	T	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LAMB4:NM_007356:exon31:c.G4680A:p.E1560E,;ANNO=splicing:LAMB4
7	107689977	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LAMB4(NM_007356:c.3916-1G>A)
7	107706208	.	C	T	100	PASS	AC=91;STUDIES=7;MAC=91;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LAMB4:NM_007356:exon21:c.G2835A:p.T945T,;ANNO=splicing:LAMB4
7	107732072	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LAMB4:NM_007356:exon14:c.T1700G:p.L567W,;ANNO=splicing:LAMB4
7	107732783	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LAMB4:NM_007356:exon13:c.G1549A:p.V517M,;ANNO=splicing:LAMB4
7	107763575	.	C	T	100	PASS	AC=61;STUDIES=6;MAC=61;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LAMB4(NM_007356:c.34+1G>A)
7	107800936	.	C	T	100	PASS	AC=626;STUDIES=22;MAC=626;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NRCAM:NM_001037132:exon28:c.G3468A:p.A1156A,NRCAM:NM_001193584:exon27:c.G3096A:p.A1032A,NRCAM:NM_005010:exon26:c.G3105A:p.A1035A,NRCAM:NM_001193583:exon28:c.G3132A:p.A1044A,NRCAM:NM_001193582:exon29:c.G3189A:p.A1063A,;ANNO=splicing:NRCAM
7	107848103	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NRCAM:NM_001037132:exon10:c.C1076T:p.A359V,NRCAM:NM_001193584:exon12:c.C1019T:p.A340V,NRCAM:NM_005010:exon12:c.C1058T:p.A353V,NRCAM:NM_001193583:exon12:c.C1019T:p.A340V,NRCAM:NM_001193582:exon13:c.C1076T:p.A359V,;ANNO=splicing:NRCAM
7	107866089	.	C	T	100	PASS	AC=20;STUDIES=9;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NRCAM:NM_001037132:exon7:c.G778A:p.A260T,NRCAM:NM_005010:exon9:c.G760A:p.A254T,NRCAM:NM_001193582:exon10:c.G778A:p.A260T,;ANNO=splicing:NRCAM
7	111430661	.	C	T	100	PASS	AC=13;STUDIES=9;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DOCK4:NM_014705:exon31:c.G3167A:p.G1056E,;ANNO=splicing:DOCK4
7	111575683	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DOCK4:NM_014705:exon12:c.G978A:p.M326I,;ANNO=splicing:DOCK4
7	111580166	.	T	C	100	PASS	AC=416;STUDIES=20;MAC=416;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DOCK4:NM_014705:exon11:c.A976G:p.M326V,;ANNO=splicing:DOCK4
7	111629217	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DOCK4:NM_014705:exon6:c.G317A:p.R106H,;ANNO=splicing:DOCK4
7	111629218	.	G	A	100	PASS	AC=50;STUDIES=13;MAC=50;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DOCK4:NM_014705:exon6:c.C316T:p.R106C,;ANNO=splicing:DOCK4
7	111936283	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF277(NM_021994:c.382-1G>T)
7	112090836	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IFRD1:NM_001550:exon1:c.A93C:p.A31A,IFRD1:NM_001007245:exon2:c.A93C:p.A31A,;ANNO=splicing:IFRD1
7	115590928	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TFEC:NM_001018058:exon5:c.C428T:p.P143L,TFEC:NM_012252:exon6:c.C515T:p.P172L,;ANNO=splicing:TFEC
7	116419011	.	T	C	100	PASS	AC=28;STUDIES=7;MAC=28;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MET:NM_000245:exon17:c.T3522C:p.H1174H,MET:NM_001127500:exon17:c.T3576C:p.H1192H,;ANNO=splicing:MET
7	116862916	.	T	C	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:ST7:NM_021908:exon16:c.T1640A:p.M547K,;ANNO=nonsynonymous:ST7:NM_021908:exon16:c.T1640C:p.M547T,;ANNO=splicing:ST7;ANNO=splicing:ST7
7	117066989	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ASZ1:NM_130768:exon2:c.A106G:p.K36E,;ANNO=splicing:ASZ1
7	117171169	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CFTR(NM_000492:c.489+1G>T)
7	117174330	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CFTR:NM_000492:exon5:c.A490G:p.T164A,;ANNO=splicing:CFTR
7	117199709	.	G	A	100	PASS	AC=516;STUDIES=21;MAC=516;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CFTR:NM_000492:exon11:c.G1584A:p.E528E,;ANNO=splicing:CFTR
7	117227792	.	G	A	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CFTR(NM_000492:c.1584-1G>A)
7	117227887	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CFTR:NM_000492:exon12:c.G1679C:p.R560T,;ANNO=splicing:CFTR
7	117232712	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CFTR(NM_000492:c.2490+1G>A)
7	117246808	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CFTR(NM_000492:c.2988+1G>A)
7	117359689	.	A	G	100	PASS	AC=13;STUDIES=8;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CTTNBP2:NM_033427:exon21:c.T4513C:p.S1505P,;ANNO=splicing:CTTNBP2
7	117864712	.	A	C	100	PASS	AC=88;STUDIES=3;MAC=88;MAF=0.044;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ANKRD7
7	120739978	.	A	G	100	PASS	AC=29;STUDIES=3;MAC=29;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C7orf58(NM_024913:c.749-2A>G,NM_001105533:c.749-2A>G)
7	120767311	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C7orf58:NM_024913:exon10:c.G1302C:p.K434N,C7orf58:NM_001105533:exon9:c.G1302C:p.K434N,;ANNO=splicing:C7orf58
7	120780881	.	A	G	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C7orf58:NM_024913:exon15:c.A1700G:p.D567G,C7orf58:NM_001105533:exon14:c.A1700G:p.D567G,;ANNO=splicing:C7orf58
7	121003000	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FAM3C:NM_001040020:exon7:c.A333G:p.G111G,FAM3C:NM_014888:exon7:c.A333G:p.G111G,;ANNO=splicing:FAM3C
7	121650388	.	G	A	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PTPRZ1:NM_001206838:exon12:c.G1288A:p.E430K,PTPRZ1:NM_001206839:exon12:c.G1288A:p.E430K,PTPRZ1:NM_002851:exon12:c.G1288A:p.E430K,;ANNO=splicing:PTPRZ1
7	121651363	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTPRZ1:NM_001206838:exon12:c.G2263A:p.E755K,PTPRZ1:NM_001206839:exon12:c.G2263A:p.E755K,PTPRZ1:NM_002851:exon12:c.G2263A:p.G755S,;ANNO=splicing:PTPRZ1
7	121674150	.	C	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PTPRZ1:NM_001206838:exon16:c.C2588A:p.T863K,PTPRZ1:NM_002851:exon16:c.C5168A:p.T1723K,;ANNO=splicing:PTPRZ1
7	122774582	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC13A1:NM_022444:exon8:c.C814T:p.R272C,;ANNO=splicing:SLC13A1
7	122811823	.	A	C	100	PASS	AC=23;STUDIES=3;MAC=23;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC13A1:NM_022444:exon3:c.T364G:p.W122G,;ANNO=splicing:SLC13A1
7	123143419	.	T	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IQUB(NM_178827:c.532-2A>C)
7	127239434	.	G	C	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FSCN3(NM_020369:c.1120-1G>C)
7	127725832	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SND1:NM_014390:exon20:c.C2304T:p.N768N,;ANNO=splicing:SND1
7	127975732	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RBM28:NM_001166135:exon4:c.G388A:p.A130T,RBM28:NM_018077:exon8:c.G811A:p.A271T,;ANNO=splicing:RBM28
7	127977183	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RBM28(NM_018077:c.613+2T>C,NM_001166135:c.190+2T>C)
7	128034653	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IMPDH1:NM_000883:exon15:c.C1551T:p.S517S,IMPDH1:NM_001102605:exon14:c.C1521T:p.S507S,IMPDH1:NM_001142574:exon12:c.C1281T:p.S427S,IMPDH1:NM_001142573:exon12:c.C1296T:p.S432S,IMPDH1:NM_001142576:exon14:c.C1452T:p.S484S,IMPDH1:NM_001142575:exon11:c.C1221T:p.S407S,IMPDH1:NM_183243:exon13:c.C1443T:p.S481S,;ANNO=splicing:IMPDH1
7	128036987	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IMPDH1:NM_000883:exon11:c.C1164T:p.N388N,IMPDH1:NM_001102605:exon10:c.C1134T:p.N378N,IMPDH1:NM_001142574:exon8:c.C894T:p.N298N,IMPDH1:NM_001142573:exon8:c.C909T:p.N303N,IMPDH1:NM_001142576:exon10:c.C1065T:p.N355N,IMPDH1:NM_001142575:exon7:c.C834T:p.N278N,IMPDH1:NM_183243:exon9:c.C1056T:p.N352N,;ANNO=splicing:IMPDH1
7	128049496	.	T	C	100	PASS	AC=18;STUDIES=9;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:IMPDH1:NM_000883:exon2:c.A189G:p.S63S,IMPDH1:NM_001142576:exon2:c.A189G:p.S63S,;ANNO=splicing:IMPDH1
7	128117227	.	G	A	100	PASS	AC=1672;STUDIES=21;MAC=1672;MAF=0.076;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:METTL2B:NM_018396:exon2:c.G202A:p.V68I,;ANNO=splicing:METTL2B
7	128415040	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OPN1SW:NM_001708:exon2:c.G521A:p.R174Q,;ANNO=splicing:OPN1SW
7	128415041	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OPN1SW:NM_001708:exon2:c.C520T:p.R174W,;ANNO=splicing:OPN1SW
7	128475627	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FLNC:NM_001458:exon2:c.C600T:p.P200P,FLNC:NM_001127487:exon2:c.C600T:p.P200P,;ANNO=splicing:FLNC
7	128486356	.	C	T	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FLNC:NM_001458:exon23:c.C3966T:p.G1322G,FLNC:NM_001127487:exon23:c.C3966T:p.G1322G,;ANNO=splicing:FLNC
7	128503115	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATP6V1F:NM_001198909:exon1:c.C157T:p.R53C,ATP6V1F:NM_004231:exon1:c.C157T:p.R53W,;ANNO=splicing:ATP6V1F
7	128520441	.	G	C	100	PASS	AC=29;STUDIES=3;MAC=29;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KCP:NM_001135914:exon30:c.C3383G:p.P1128R,;ANNO=splicing:KCP
7	128527355	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KCP(NM_001135914:c.2329-1G>T)
7	128578301	.	G	T	100	PASS	AC=771;STUDIES=2;MAC=747;MAF=0.492;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IRF5
7	128843429	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SMO:NM_005631:exon2:c.C536T:p.T179M,;ANNO=splicing:SMO
7	128845623	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SMO:NM_005631:exon4:c.C920T:p.T307I,;ANNO=splicing:SMO
7	128851478	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SMO:NM_005631:exon11:c.G1803A:p.A601A,;ANNO=splicing:SMO
7	129120729	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM40B:NM_020704:exon19:c.T2048G:p.M683R,FAM40B:NM_001134336:exon19:c.T2048G:p.M683R,;ANNO=splicing:FAM40B
7	129825030	.	A	G	100	PASS	AC=84;STUDIES=10;MAC=84;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM209(NM_032842:c.951+2T>C)
7	129940755	.	G	C	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CPA4(NM_016352:c.384+1G>C)
7	129950826	.	C	T	100	PASS	AC=16;STUDIES=10;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CPA4:NM_001163446:exon8:c.C894T:p.L298L,CPA4:NM_016352:exon9:c.C993T:p.L331L,;ANNO=splicing:CPA4
7	129951878	.	G	A	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CPA4:NM_001163446:exon9:c.G895A:p.D299N,CPA4:NM_016352:exon10:c.G994A:p.D332N,;ANNO=splicing:CPA4
7	129984630	.	A	G	100	PASS	AC=1287;STUDIES=2;MAC=609;MAF=0.321;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=splicing:CPA5
7	130023634	.	C	T	100	PASS	AC=16;STUDIES=8;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CPA1:NM_001868:exon6:c.C695T:p.T232M,;ANNO=splicing:CPA1
7	130023635	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CPA1:NM_001868:exon6:c.G696A:p.T232T,;ANNO=splicing:CPA1
7	130135210	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MEST:NM_002402:exon2:c.A28G:p.M10V,MEST:NM_177524:exon2:c.A1G:p.M1V,MEST:NM_177525:exon2:c.A1G:p.M1V,;ANNO=splicing:MEST
7	130364205	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TSGA13:NM_052933:exon5:c.G175A:p.A59T,;ANNO=splicing:TSGA13
7	130827699	.	C	T	100	PASS	AC=225;STUDIES=6;MAC=225;MAF=0.033;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MKLN1:NM_001145354:exon2:c.C28T:p.R10W,;ANNO=splicing:MKLN1
7	131195587	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PODXL:NM_005397:exon2:c.C706T:p.P236S,;ANNO=splicing:PODXL
7	131859678	.	G	T	100	PASS	AC=959;STUDIES=21;MAC=959;MAF=0.042;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLXNA4:NM_020911:exon21:c.C3876A:p.A1292A,;ANNO=splicing:PLXNA4
7	132070054	.	T	C	100	PASS	AC=8408;STUDIES=17;MAC=7192;MAF=0.461;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=5;ANNO=nonsynonymous:PLXNA4:NM_001105543:exon4:c.A1372G:p.M458V,;ANNO=splicing:PLXNA4
7	133848293	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LRGUK(NM_144648:c.939+1G>A)
7	133906669	.	C	T	100	PASS	AC=2058;STUDIES=21;MAC=2058;MAF=0.091;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:LRGUK:NM_144648:exon16:c.C1982T:p.A661V,;ANNO=splicing:LRGUK
7	133984276	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC35B4:NM_032826:exon8:c.T672C:p.S224S,;ANNO=splicing:SLC35B4
7	134215396	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:AKR1B10:NM_020299:exon2:c.C68T:p.S23F,;ANNO=splicing:AKR1B10
7	134216660	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:AKR1B10:NM_020299:exon3:c.T235C:p.L79L,;ANNO=nonsynonymous:AKR1B10:NM_020299:exon3:c.T235G:p.L79V,;ANNO=splicing:AKR1B10;ANNO=splicing:AKR1B10
7	134222413	.	G	A	100	PASS	AC=70;STUDIES=6;MAC=70;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:AKR1B10:NM_020299:exon7:c.G741A:p.Q247Q,;ANNO=splicing:AKR1B10
7	135095397	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CNOT4:NM_001190850:exon7:c.C689T:p.A230V,CNOT4:NM_013316:exon7:c.C689T:p.A230V,CNOT4:NM_001190848:exon7:c.C689T:p.A230V,CNOT4:NM_001190849:exon7:c.C689T:p.A230V,CNOT4:NM_001008225:exon7:c.C689T:p.A230V,CNOT4:NM_001190847:exon7:c.C689T:p.A230V,;ANNO=splicing:CNOT4
7	135107102	.	G	C	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CNOT4:NM_001190850:exon3:c.C175G:p.P59A,CNOT4:NM_013316:exon3:c.C175G:p.P59A,CNOT4:NM_001190848:exon3:c.C175G:p.P59A,CNOT4:NM_001190849:exon3:c.C175G:p.P59A,CNOT4:NM_001008225:exon3:c.C175G:p.P59A,CNOT4:NM_001190847:exon3:c.C175G:p.P59A,;ANNO=splicing:CNOT4
7	135261718	.	C	T	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NUP205:NM_015135:exon5:c.C490T:p.P164S,;ANNO=splicing:NUP205
7	135384112	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC13A4:NM_012450:exon8:c.A896G:p.N299S,;ANNO=splicing:SLC13A4
7	135415028	.	G	A	100	PASS	AC=402;STUDIES=2;MAC=402;MAF=0.212;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=splicing:FAM180A
7	136935977	.	C	A	100	PASS	AC=129;STUDIES=17;MAC=129;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PTN:NM_002825:exon4:c.G451T:p.A151S,;ANNO=splicing:PTN
7	137206613	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DGKI:NM_004717:exon21:c.T2247C:p.A749A,;ANNO=splicing:DGKI
7	137341213	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DGKI:NM_004717:exon4:c.A680G:p.K227R,;ANNO=splicing:DGKI
7	137567157	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CREB3L2(NM_194071:c.1487+1G>A)
7	137590594	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CREB3L2:NM_194071:exon6:c.A769G:p.K257E,;ANNO=splicing:CREB3L2
7	137600583	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CREB3L2:NM_194071:exon3:c.G495A:p.G165G,;ANNO=splicing:CREB3L2
7	137600758	.	T	C	100	PASS	AC=23;STUDIES=5;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CREB3L2:NM_194071:exon3:c.A320G:p.D107G,;ANNO=splicing:CREB3L2
7	137761356	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AKR1D1:NM_001190906:exon1:c.C92T:p.S31L,AKR1D1:NM_001190907:exon1:c.C92T:p.S31L,AKR1D1:NM_005989:exon1:c.C92T:p.S31L,;ANNO=splicing:AKR1D1
7	137773515	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AKR1D1(NM_001190906:c.261+1G>T,NM_001190907:c.261+1G>T,NM_005989:c.261+1G>T)
7	137782613	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AKR1D1:NM_001190906:exon4:c.C380T:p.P127L,AKR1D1:NM_001190907:exon4:c.C380T:p.P127L,AKR1D1:NM_005989:exon4:c.C380T:p.P127L,;ANNO=splicing:AKR1D1
7	138447178	.	G	A	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATP6V0A4:NM_130840:exon6:c.C419T:p.T140M,ATP6V0A4:NM_130841:exon6:c.C419T:p.T140M,ATP6V0A4:NM_020632:exon7:c.C419T:p.T140M,;ANNO=splicing:ATP6V0A4
7	138593738	.	T	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1549:NM_001164665:exon5:c.A3275T:p.Q1092L,KIAA1549:NM_020910:exon5:c.A3275T:p.Q1092L,;ANNO=splicing:KIAA1549
7	138593867	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1549:NM_001164665:exon5:c.T3146A:p.V1049E,KIAA1549:NM_020910:exon5:c.T3146A:p.V1049E,;ANNO=splicing:KIAA1549
7	138916697	.	G	C	100	PASS	AC=139;STUDIES=14;MAC=139;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UBN2:NM_173569:exon1:c.G467C:p.R156P,;ANNO=splicing:UBN2
7	138945999	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UBN2:NM_173569:exon6:c.G907T:p.V303F,;ANNO=splicing:UBN2
7	139635991	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TBXAS1:NM_001061:exon5:c.C338T:p.A113V,TBXAS1:NM_001166254:exon7:c.C134T:p.A45V,TBXAS1:NM_001166253:exon5:c.C338T:p.A113V,TBXAS1:NM_030984:exon5:c.C338T:p.A113V,TBXAS1:NM_001130966:exon9:c.C338T:p.A113V,;ANNO=splicing:TBXAS1
7	139754461	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PARP12(NM_022750:c.862+1G>C)
7	140111856	.	T	C	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RAB19:NM_001008749:exon3:c.T384C:p.I128I,;ANNO=splicing:RAB19
7	140154896	.	C	G	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:MKRN1:NM_013446:exon7:c.G1235C:p.R412P,;ANNO=splicing:MKRN1
7	140374064	.	G	C	100	PASS	AC=79;STUDIES=16;MAC=79;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADCK2(NM_052853:c.933+1G>C)
7	140389398	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADCK2:NM_052853:exon6:c.G1559A:p.G520D,;ANNO=splicing:ADCK2
7	141539138	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PRSS37:NM_001171951:exon2:c.C176T:p.P59L,PRSS37:NM_001008270:exon2:c.C176T:p.P59L,;ANNO=splicing:PRSS37
7	141755358	.	T	C	100	PASS	AC=3707;STUDIES=19;MAC=3707;MAF=0.195;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:MGAM:NM_004668:exon28:c.T3315C:p.I1105I,;ANNO=splicing:MGAM
7	141763299	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:MGAM:NM_004668:exon36:c.G4258A:p.D1420N,;ANNO=splicing:MGAM
7	141763386	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MGAM:NM_004668:exon36:c.C4345T:p.H1449Y,;ANNO=splicing:MGAM
7	141794453	.	A	T	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:MGAM:NM_004668:exon39:c.A4652T:p.Y1551F,;ANNO=splicing:MGAM
7	141796131	.	G	A	100	PASS	AC=13164;STUDIES=18;MAC=3654;MAF=0.217;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:MGAM:NM_004668:exon42:c.G4920A:p.E1640E,;ANNO=splicing:MGAM
7	141796215	.	T	C	100	PASS	AC=37;STUDIES=2;MAC=37;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:MGAM:NM_004668:exon42:c.T5004C:p.R1668R,;ANNO=splicing:MGAM
7	141803238	.	A	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MGAM:NM_004668:exon47:c.A5495G:p.Q1832R,;ANNO=splicing:MGAM
7	141957488	.	C	T	100	PASS	AC=35;STUDIES=4;MAC=35;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRSS58:NM_001001317:exon2:c.G40A:p.V14I,;ANNO=splicing:PRSS58
7	142457376	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRSS1(NM_002769:c.40+1G>A)
7	142458566	.	G	A	100	PASS	AC=141;STUDIES=5;MAC=141;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:PRSS1(NM_002769:c.200+1G>A)
7	142459626	.	C	T	100	PASS	AC=491;STUDIES=6;MAC=491;MAF=0.068;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:PRSS1:NM_002769:exon3:c.C202T:p.R68C,;ANNO=splicing:PRSS1
7	142459877	.	C	T	100	PASS	AC=56;STUDIES=7;MAC=56;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:PRSS1:NM_002769:exon3:c.C453T:p.G151G,;ANNO=splicing:PRSS1
7	142480067	.	C	T	100	PASS	AC=462;STUDIES=2;MAC=154;MAF=0.250;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=4;ANNO=splicing:PRSS2(NM_002770:c.159+1C>T)
7	142567571	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EPHB6:NM_004445:exon17:c.G2459T:p.G820V,;ANNO=splicing:EPHB6
7	142568847	.	A	G	100	PASS	AC=27;STUDIES=2;MAC=27;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:EPHB6
7	142570231	.	T	C	100	PASS	AC=15;STUDIES=3;MAC=15;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRPV6:NM_018646:exon14:c.A1789G:p.I597V,;ANNO=splicing:TRPV6
7	142609915	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TRPV5:NM_019841:exon13:c.G1521A:p.A507A,;ANNO=splicing:TRPV5
7	142611809	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRPV5(NM_019841:c.1519+1G>A)
7	142611811	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TRPV5:NM_019841:exon12:c.C1518T:p.S506S,;ANNO=splicing:TRPV5
7	142659292	.	A	G	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KEL:NM_000420:exon1:c.T2C:p.M1T,;ANNO=splicing:KEL
7	142749439	.	T	C	100	PASS	AC=163;STUDIES=9;MAC=163;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OR6V1:NM_001001667:exon1:c.T2C:p.M1T,;ANNO=splicing:OR6V1
7	142829304	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PIP:NM_002652:exon1:c.C95G:p.T32S,;ANNO=splicing:PIP
7	142836284	.	T	C	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PIP(NM_002652:c.316+2T>C)
7	142983294	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMEM139:NM_153345:exon2:c.G244T:p.G82C,;ANNO=splicing:TMEM139
7	142983295	.	G	A	100	PASS	AC=44;STUDIES=14;MAC=44;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMEM139:NM_153345:exon2:c.G245A:p.G82D,;ANNO=splicing:TMEM139
7	142989560	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CASP2:NM_001224:exon3:c.G300A:p.P100P,CASP2:NM_032982:exon3:c.G393A:p.P131P,;ANNO=splicing:CASP2
7	143027865	.	G	A	100	PASS	AC=7;STUDIES=7;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CLCN1:NM_000083:exon8:c.G854A:p.G285E,;ANNO=splicing:CLCN1
7	143043750	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CLCN1:NM_000083:exon19:c.A2363C:p.Q788P,;ANNO=splicing:CLCN1
7	143085431	.	C	T	100	PASS	AC=151;STUDIES=6;MAC=151;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZYX:NM_003461:exon6:c.C1143T:p.N381N,ZYX:NM_001010972:exon6:c.C1143T:p.N381N,;ANNO=splicing:ZYX
7	143088867	.	T	C	100	PASS	AC=21661;STUDIES=21;MAC=1773;MAF=0.076;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:EPHA1:NM_005232:exon17:c.A2698G:p.M900V,;ANNO=splicing:EPHA1
7	143092107	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EPHA1:NM_005232:exon14:c.G2146A:p.E716K,;ANNO=splicing:EPHA1
7	143748430	.	A	G	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stoploss:OR2A5:NM_012365:exon1:c.A936G:p.X312W,;ANNO=splicing:OR2A5
7	144075958	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:ARHGEF5:NM_005435:exon14:c.C4635G:p.D1545E,;ANNO=synonymous:ARHGEF5:NM_005435:exon14:c.C4635T:p.D1545D,;ANNO=splicing:ARHGEF5;ANNO=splicing:ARHGEF5
7	144075958	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:ARHGEF5:NM_005435:exon14:c.C4635G:p.D1545E,;ANNO=synonymous:ARHGEF5:NM_005435:exon14:c.C4635T:p.D1545D,;ANNO=splicing:ARHGEF5;ANNO=splicing:ARHGEF5
7	144097204	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NOBOX:NM_001080413:exon5:c.G1046C:p.W349S,;ANNO=splicing:NOBOX
7	146825928	.	G	A	100	PASS	AC=104;STUDIES=15;MAC=104;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CNTNAP2:NM_014141:exon7:c.G1083A:p.V361V,;ANNO=splicing:CNTNAP2
7	148311389	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C7orf33(NM_145304:c.459+1G>A)
7	148456729	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CUL1:NM_003592:exon6:c.C624T:p.Y208Y,;ANNO=splicing:CUL1
7	148507426	.	A	G	100	PASS	AC=49;STUDIES=6;MAC=49;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:EZH2:NM_152998:exon16:c.T1896C:p.N632N,EZH2:NM_001203249:exon16:c.T1860C:p.N620N,EZH2:NM_001203247:exon17:c.T2013C:p.N671N,EZH2:NM_004456:exon17:c.T2028C:p.N676N,EZH2:NM_001203248:exon17:c.T1986C:p.N662N,;ANNO=splicing:EZH2
7	148708938	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDIA4:NM_004911:exon6:c.G979A:p.A327T,;ANNO=splicing:PDIA4
7	148708939	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PDIA4:NM_004911:exon6:c.C978T:p.A326A,;ANNO=splicing:PDIA4
7	148823288	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZNF425:NM_001001661:exon1:c.G18C:p.S6S,;ANNO=splicing:ZNF425
7	148851037	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZNF398:NM_170686:exon2:c.A25G:p.T9A,;ANNO=splicing:ZNF398
7	148875740	.	A	G	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZNF398:NM_020781:exon7:c.A263G:p.D88G,ZNF398:NM_170686:exon6:c.A776G:p.D259G,;ANNO=splicing:ZNF398
7	148904444	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF282:NM_003575:exon4:c.C714T:p.D238D,;ANNO=splicing:ZNF282
7	149133916	.	C	T	100	PASS	AC=1608;STUDIES=21;MAC=1608;MAF=0.068;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF777:NM_015694:exon5:c.G1089A:p.A363A,;ANNO=splicing:ZNF777
7	149133917	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:ZNF777:NM_015694:exon5:c.C1088T:p.A363V,;ANNO=splicing:ZNF777
7	149474024	.	A	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SSPO:NM_198455:exon3:c.A234T:p.K78N,;ANNO=splicing:SSPO
7	149475870	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SSPO:NM_198455:exon7:c.G836A:p.G279E,;ANNO=splicing:SSPO
7	149480598	.	G	A	100	PASS	AC=40;STUDIES=6;MAC=40;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SSPO(NM_198455:c.2306-1G>A)
7	149480764	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SSPO:NM_198455:exon16:c.C2472T:p.A824A,;ANNO=splicing:SSPO
7	149482573	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SSPO:NM_198455:exon20:c.G2993A:p.R998H,;ANNO=splicing:SSPO
7	149485059	.	T	C	100	PASS	AC=1567;STUDIES=17;MAC=1567;MAF=0.092;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SSPO:NM_198455:exon24:c.T3818C:p.L1273P,;ANNO=splicing:SSPO
7	149485060	.	G	A	100	PASS	AC=22;STUDIES=3;MAC=22;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:SSPO(NM_198455:c.3818+1G>A)
7	149485557	.	C	T	100	PASS	AC=403;STUDIES=16;MAC=403;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SSPO:NM_198455:exon25:c.C3967T:p.R1323W,;ANNO=splicing:SSPO
7	149487608	.	T	G	100	PASS	AC=98;STUDIES=3;MAC=98;MAF=0.068;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=3;ANNO=splicing:SSPO(NM_198455:c.4925+1T>G)
7	149497517	.	C	T	100	PASS	AC=22;STUDIES=8;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SSPO:NM_198455:exon47:c.C7279T:p.R2427C,;ANNO=splicing:SSPO
7	149500437	.	G	A	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SSPO:NM_198455:exon51:c.G7967A:p.R2656K,;ANNO=splicing:SSPO
7	149500777	.	G	A	100	PASS	AC=39;STUDIES=5;MAC=39;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SSPO:NM_198455:exon53:c.G8099A:p.R2700H,;ANNO=splicing:SSPO
7	149519770	.	T	C	100	PASS	AC=131;STUDIES=4;MAC=131;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SSPO(NM_198455:c.13272+2T>C)
7	149525728	.	C	T	100	PASS	AC=407;STUDIES=9;MAC=407;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SSPO:NM_198455:exon99:c.C15003T:p.A5001A,;ANNO=splicing:SSPO
7	150036076	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:RARRES2:NM_002889:exon4:c.G374A:p.R125Q,;ANNO=splicing:RARRES2
7	150037293	.	G	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:RARRES2:NM_002889:exon3:c.C175A:p.P59T,;ANNO=splicing:RARRES2
7	150037526	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RARRES2:NM_002889:exon2:c.C173T:p.T58M,;ANNO=splicing:RARRES2
7	150697687	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NOS3:NM_000603:exon10:c.G1233C:p.Q411H,NOS3:NM_001160110:exon9:c.G1233C:p.Q411H,NOS3:NM_001160111:exon9:c.G1233C:p.Q411H,NOS3:NM_001160109:exon9:c.G1233C:p.Q411H,;ANNO=splicing:NOS3
7	150710817	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NOS3:NM_000603:exon26:c.C3261T:p.Y1087Y,;ANNO=splicing:ATG9B(NM_173681:c.3300+1G>A)
7	150718276	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:ATG9B:NM_173681:exon5:c.C962T:p.P321L,;ANNO=nonsynonymous:ATG9B:NM_173681:exon5:c.C962G:p.P321R,;ANNO=splicing:ATG9B;ANNO=splicing:ATG9B
7	150720532	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATG9B:NM_173681:exon3:c.G659A:p.G220E,;ANNO=splicing:ATG9B
7	150720770	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ATG9B(NM_173681:c.596+2T>C)
7	150732828	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCB8:NM_007188:exon6:c.A926C:p.Q309P,;ANNO=splicing:ABCB8
7	150747343	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACCN3:NM_020321:exon2:c.G685C:p.E229Q,ACCN3:NM_020322:exon2:c.G685C:p.E229Q,ACCN3:NM_004769:exon2:c.G685C:p.E229Q,;ANNO=splicing:ACCN3
7	150768923	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC4A2:NM_001199694:exon14:c.C2297T:p.S766L,SLC4A2:NM_001199693:exon14:c.C2312T:p.S771L,SLC4A2:NM_001199692:exon15:c.C2339T:p.S780L,SLC4A2:NM_003040:exon15:c.C2339T:p.S780L,;ANNO=splicing:SLC4A2
7	150835231	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AGAP3:NM_031946:exon12:c.T1497C:p.G499G,;ANNO=splicing:AGAP3
7	150837067	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AGAP3:NM_031946:exon13:c.C1668T:p.A556A,;ANNO=splicing:AGAP3
7	150911145	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:ABCF2:NM_005692:exon15:c.G1867T:p.V623L,ABCF2:NM_007189:exon15:c.G1867T:p.V623L,;ANNO=nonsynonymous:ABCF2:NM_005692:exon15:c.G1867A:p.V623M,ABCF2:NM_007189:exon15:c.G1867A:p.V623M,;ANNO=splicing:ABCF2;ANNO=splicing:ABCF2
7	150920935	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCF2:NM_005692:exon5:c.C551T:p.A184V,ABCF2:NM_007189:exon5:c.C551T:p.A184V,;ANNO=splicing:ABCF2
7	150937333	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SMARCD3:NM_003078:exon11:c.C999T:p.S333S,SMARCD3:NM_001003802:exon11:c.C999T:p.S333S,SMARCD3:NM_001003801:exon10:c.C1038T:p.S346S,;ANNO=splicing:SMARCD3
7	151133265	.	C	T	100	PASS	AC=24;STUDIES=5;MAC=24;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CRYGN(NM_144727:c.416+1G>A)
7	151668151	.	G	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GALNTL5(NM_145292:c.368+1G>C)
7	151680072	.	T	C	100	PASS	AC=18319;STUDIES=20;MAC=3517;MAF=0.161;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:GALNTL5:NM_145292:exon4:c.T370C:p.C124R,;ANNO=splicing:GALNTL5
7	151699798	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GALNTL5(NM_145292:c.658-1G>C)
7	151896365	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MLL3:NM_170606:exon27:c.C4272T:p.H1424H,;ANNO=splicing:MLL3
7	151970951	.	C	T	100	PASS	AC=189;STUDIES=2;MAC=189;MAF=0.085;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:MLL3:NM_170606:exon7:c.G851A:p.R284Q,;ANNO=splicing:MLL3
7	155095606	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:INSIG1(NM_198336:c.419+1G>A)
7	156451155	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RNF32(NM_030936:c.575-1G>T,NM_001184996:c.575-1G>T,NM_001184997:c.575-1G>T)
7	156468559	.	T	C	100	PASS	AC=997;STUDIES=18;MAC=997;MAF=0.048;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RNF32(NM_030936:c.852+2T>C,NM_001184996:c.852+2T>C,NM_001184997:c.852+2T>C)
7	156516874	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LMBR1(NM_022458:c.1158-2A>G)
7	156756597	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NOM1(NM_138400:c.1911-2A>G)
7	156762224	.	G	C	100	PASS	AC=12395;STUDIES=21;MAC=11187;MAF=0.474;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:NOM1:NM_138400:exon11:c.G2410C:p.V804L,;ANNO=splicing:NOM1
7	157000092	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:UBE3C:NM_014671:exon12:c.G1419A:p.G473G,;ANNO=splicing:UBE3C
7	157155855	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:DNAJB6:NM_058246:exon3:c.A66G:p.A22A,DNAJB6:NM_005494:exon3:c.A66G:p.A22A,;ANNO=splicing:DNAJB6
7	157414055	.	G	A	100	PASS	AC=37;STUDIES=4;MAC=37;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PTPRN2:NM_130843:exon14:c.C2256T:p.T752T,PTPRN2:NM_130842:exon14:c.C2292T:p.T764T,PTPRN2:NM_002847:exon15:c.C2343T:p.T781T,;ANNO=splicing:PTPRN2
7	158444986	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NCAPG2:NM_017760:exon23:c.G2933A:p.R978Q,;ANNO=splicing:NCAPG2
7	158472777	.	C	T	100	PASS	AC=21;STUDIES=4;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NCAPG2:NM_017760:exon11:c.G1021A:p.A341T,;ANNO=splicing:NCAPG2
7	158664253	.	G	A	100	PASS	AC=264;STUDIES=11;MAC=264;MAF=0.039;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:WDR60:NM_018051:exon3:c.G490A:p.V164I,;ANNO=splicing:WDR60
7	158716423	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:WDR60:NM_018051:exon17:c.C2256T:p.T752T,;ANNO=splicing:WDR60
8	190907	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZNF596:NM_001042416:exon2:c.G12A:p.P4P,ZNF596:NM_173539:exon2:c.G12A:p.P4P,ZNF596:NM_001042415:exon2:c.G12A:p.P4P,;ANNO=splicing:ZNF596
8	1842737	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARHGEF10:NM_014629:exon13:c.C1439T:p.S480L,;ANNO=splicing:ARHGEF10
8	1900992	.	C	T	100	PASS	AC=64;STUDIES=9;MAC=64;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGEF10:NM_014629:exon28:c.C3519T:p.T1173T,;ANNO=splicing:ARHGEF10
8	1900993	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ARHGEF10:NM_014629:exon28:c.G3520A:p.G1174R,;ANNO=splicing:ARHGEF10
8	1993158	.	G	A	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:MYOM2
8	2005466	.	G	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYOM2:NM_003970:exon4:c.G264T:p.R88S,;ANNO=splicing:MYOM2
8	2027693	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYOM2:NM_003970:exon13:c.A1515T:p.E505D,;ANNO=splicing:MYOM2
8	2040174	.	T	G	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:MYOM2:NM_003970:exon16:c.T1829G:p.V610G,;ANNO=splicing:MYOM2
8	2056578	.	G	A	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYOM2:NM_003970:exon24:c.G3000A:p.E1000E,;ANNO=splicing:MYOM2
8	2077113	.	A	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYOM2(NM_003970:c.3694-2A>G)
8	2820745	.	G	C	100	PASS	AC=5430;STUDIES=17;MAC=5430;MAF=0.348;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:CSMD1:NM_033225:exon60:c.C9453G:p.L3151L,;ANNO=splicing:CSMD1
8	2820916	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CSMD1:NM_033225:exon60:c.C9282T:p.A3094A,;ANNO=splicing:CSMD1
8	2966126	.	G	A	100	PASS	AC=190;STUDIES=8;MAC=190;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CSMD1:NM_033225:exon44:c.C6753T:p.H2251H,;ANNO=splicing:CSMD1
8	3047637	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CSMD1:NM_033225:exon34:c.C5195G:p.A1732G,;ANNO=splicing:CSMD1
8	3165342	.	C	T	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CSMD1:NM_033225:exon25:c.G3825A:p.A1275A,;ANNO=splicing:CSMD1
8	3165343	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:CSMD1:NM_033225:exon25:c.C3824T:p.A1275V,;ANNO=nonsynonymous:CSMD1:NM_033225:exon25:c.C3824A:p.A1275E,;ANNO=splicing:CSMD1;ANNO=splicing:CSMD1
8	3205682	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CSMD1:NM_033225:exon22:c.C3306T:p.A1102A,;ANNO=splicing:CSMD1
8	3263742	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CSMD1:NM_033225:exon15:c.A2073C:p.T691T,;ANNO=splicing:CSMD1
8	6293568	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MCPH1(NM_024596:c.321-1G>C,NM_001172575:c.321-1G>C,NM_001172574:c.321-1G>C)
8	6372298	.	G	A	100	PASS	AC=68;STUDIES=15;MAC=68;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ANGPT2:NM_001118888:exon5:c.C776T:p.A259V,ANGPT2:NM_001147:exon6:c.C932T:p.A311V,ANGPT2:NM_001118887:exon6:c.C929T:p.A310V,;ANNO=splicing:ANGPT2
8	6582391	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AGPAT5:NM_018361:exon2:c.A220G:p.I74V,;ANNO=splicing:AGPAT5
8	6614685	.	A	G	100	PASS	AC=82;STUDIES=8;MAC=82;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AGPAT5:NM_018361:exon8:c.A871G:p.M291V,;ANNO=splicing:AGPAT5
8	6681044	.	T	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:XKR5:NM_207411:exon4:c.A636T:p.A212A,;ANNO=splicing:XKR5
8	6690239	.	C	T	100	PASS	AC=49;STUDIES=9;MAC=49;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:XKR5:NM_207411:exon2:c.G242A:p.R81Q,;ANNO=splicing:XKR5
8	6794249	.	C	A	100	PASS	AC=81;STUDIES=5;MAC=81;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DEFA4(NM_001925:c.172+1G>T)
8	6794433	.	C	T	100	PASS	AC=15;STUDIES=4;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=splicing:DEFA4
8	6873621	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DEFA1:NM_004084:exon3:c.G176A:p.G59D,DEFA1B:NM_001042500:exon3:c.G176A:p.G59D,DEFA3:NM_005217:exon3:c.G176A:p.G59D,;ANNO=splicing:DEFA1,DEFA1B,DEFA3
8	7218632	.	C	T	100	PASS	AC=244;STUDIES=3;MAC=244;MAF=0.390;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=5;ANNO=nonsynonymous:ZNF705G:NM_001164457:exon2:c.G139A:p.G47R,;ANNO=splicing:ZNF705G
8	8176818	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SGK223:NM_001080826:exon5:c.A3067T:p.I1023F,;ANNO=splicing:SGK223
8	8197151	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SGK223:NM_001080826:exon3:c.G2157A:p.R719R,;ANNO=splicing:SGK223
8	8865478	.	A	G	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ERI1(NM_153332:c.108-2A>G)
8	9577884	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TNKS:NM_003747:exon12:c.A1750T:p.M584L,;ANNO=splicing:TNKS
8	9622299	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TNKS:NM_003747:exon23:c.G3446A:p.R1149Q,;ANNO=splicing:TNKS
8	10387210	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:PRSS55(NM_198464:c.347+1G>T,NM_001197020:c.347+1G>T)
8	10473956	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:RP1L1:NM_178857:exon3:c.G751T:p.G251W,;ANNO=nonsynonymous:RP1L1:NM_178857:exon3:c.G751A:p.G251R,;ANNO=splicing:RP1L1;ANNO=splicing:RP1L1
8	10480101	.	A	G	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RP1L1(NM_178857:c.609+2T>C)
8	10480730	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:RP1L1
8	10555515	.	G	C	100	PASS	AC=27;STUDIES=5;MAC=27;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C8orf74:NM_001040032:exon3:c.G648C:p.Q216H,;ANNO=splicing:C8orf74
8	11282144	.	G	A	100	PASS	AC=32;STUDIES=5;MAC=32;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM167A:NM_053279:exon3:c.C383T:p.T128M,;ANNO=splicing:FAM167A
8	11405542	.	C	G	100	PASS	AC=101;STUDIES=10;MAC=101;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BLK:NM_001715:exon4:c.C177G:p.D59E,;ANNO=splicing:BLK
8	11706672	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CTSB:NM_147781:exon6:c.C329T:p.A110V,CTSB:NM_147780:exon7:c.C329T:p.A110V,CTSB:NM_147783:exon6:c.C329T:p.A110V,CTSB:NM_001908:exon5:c.C329T:p.A110V,CTSB:NM_147782:exon6:c.C329T:p.A110V,;ANNO=splicing:CTSB
8	11710838	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CTSB:NM_147781:exon3:c.G126A:p.Q42Q,CTSB:NM_147780:exon4:c.G126A:p.Q42Q,CTSB:NM_147783:exon3:c.G126A:p.Q42Q,CTSB:NM_001908:exon2:c.G126A:p.Q42Q,CTSB:NM_147782:exon3:c.G126A:p.Q42Q,;ANNO=splicing:CTSB
8	11841930	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DEFB135:NM_001033017:exon2:c.G65A:p.G22D,;ANNO=splicing:DEFB135
8	12594410	.	T	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LONRF1:NM_152271:exon5:c.A1353T:p.G451G,;ANNO=splicing:LONRF1
8	12948941	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DLC1:NM_182643:exon14:c.G3741A:p.R1247R,DLC1:NM_001164271:exon10:c.G2208A:p.R736R,DLC1:NM_006094:exon10:c.G2430A:p.R810R,;ANNO=splicing:DLC1
8	12950333	.	A	G	100	PASS	AC=53;STUDIES=6;MAC=53;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DLC1:NM_182643:exon13:c.T3528C:p.Y1176Y,DLC1:NM_001164271:exon9:c.T1995C:p.Y665Y,DLC1:NM_006094:exon9:c.T2217C:p.Y739Y,;ANNO=splicing:DLC1
8	13251201	.	T	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DLC1:NM_182643:exon4:c.A1175T:p.D392V,DLC1:NM_024767:exon4:c.A1175T:p.D392V,;ANNO=splicing:DLC1
8	16032808	.	A	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MSR1:NM_138716:exon3:c.T105A:p.N35K,MSR1:NM_002445:exon3:c.T105A:p.N35K,MSR1:NM_138715:exon3:c.T105A:p.N35K,;ANNO=splicing:MSR1
8	16035394	.	C	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:MSR1(NM_138716:c.103+1G>T,NM_138715:c.103+1G>T,NM_002445:c.103+1G>T);ANNO=splicing:MSR1(NM_138716:c.103+1G>C,NM_138715:c.103+1G>C,NM_002445:c.103+1G>C)
8	16035396	.	C	T	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:MSR1:NM_138716:exon2:c.G102T:p.P34P,MSR1:NM_002445:exon2:c.G102T:p.P34P,MSR1:NM_138715:exon2:c.G102T:p.P34P,;ANNO=synonymous:MSR1:NM_138716:exon2:c.G102A:p.P34P,MSR1:NM_002445:exon2:c.G102A:p.P34P,MSR1:NM_138715:exon2:c.G102A:p.P34P,;ANNO=splicing:MSR1;ANNO=splicing:MSR1
8	16035502	.	C	T	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MSR1
8	16853164	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FGF20:NM_019851:exon2:c.A390G:p.S130S,;ANNO=splicing:FGF20
8	16961900	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EFHA2:NM_181723:exon10:c.C985T:p.R329C,;ANNO=splicing:EFHA2
8	17125768	.	T	C	100	PASS	AC=5078;STUDIES=22;MAC=5078;MAF=0.210;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:VPS37A:NM_152415:exon3:c.T202C:p.L68L,VPS37A:NM_001145152:exon2:c.T127C:p.L43L,;ANNO=splicing:VPS37A
8	17132243	.	C	T	100	PASS	AC=15;STUDIES=3;MAC=15;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VPS37A:NM_152415:exon5:c.C418T:p.L140L,VPS37A:NM_001145152:exon4:c.C343T:p.L115L,;ANNO=splicing:VPS37A
8	17132466	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VPS37A:NM_152415:exon5:c.C641T:p.P214L,VPS37A:NM_001145152:exon4:c.C566T:p.P189L,;ANNO=splicing:VPS37A
8	17163465	.	A	T	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MTMR7:NM_004686:exon11:c.T1153A:p.Y385N,;ANNO=splicing:MTMR7
8	17402114	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC7A2:NM_001008539:exon3:c.A531G:p.A177A,SLC7A2:NM_001164771:exon3:c.A651G:p.A217A,SLC7A2:NM_003046:exon3:c.A651G:p.A217A,;ANNO=splicing:SLC7A2
8	17478560	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PDGFRL:NM_006207:exon4:c.C354T:p.S118S,;ANNO=splicing:PDGFRL
8	17491723	.	G	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PDGFRL(NM_006207:c.939+1G>T)
8	17570762	.	C	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MTUS1(NM_001166393:c.19-1G>T,NM_001001925:c.2422-1G>T,NM_001001924:c.2584-1G>T,NM_001001931:c.325-1G>T)
8	17739687	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FGL1:NM_004467:exon3:c.C65T:p.A22V,FGL1:NM_147203:exon3:c.C65T:p.A22V,FGL1:NM_201553:exon4:c.C65T:p.A22V,FGL1:NM_201552:exon4:c.C65T:p.A22V,;ANNO=splicing:FGL1
8	17749317	.	C	G	100	PASS	AC=126;STUDIES=2;MAC=126;MAF=0.064;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FGL1
8	17883053	.	G	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PCM1:NM_006197:exon38:c.G5935T:p.A1979S,;ANNO=splicing:PCM1
8	17920738	.	A	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ASAH1:NM_004315:exon7:c.T507A:p.G169G,ASAH1:NM_001127505:exon7:c.T441A:p.G147G,ASAH1:NM_177924:exon7:c.T459A:p.G153G,;ANNO=splicing:ASAH1
8	18067463	.	T	C	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:NAT1
8	18656805	.	G	A	100	PASS	AC=3889;STUDIES=21;MAC=3889;MAF=0.164;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PSD3:NM_206909:exon5:c.C480T:p.H160H,PSD3:NM_015310:exon8:c.C2082T:p.H694H,;ANNO=splicing:PSD3
8	19218826	.	G	A	100	PASS	AC=20;STUDIES=7;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SH2D4A(NM_022071:c.706+1G>A,NM_001174160:c.571+1G>A,NM_001174159:c.706+1G>A)
8	20008178	.	G	A	100	PASS	AC=11;STUDIES=8;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC18A1:NM_003053:exon11:c.C1093T:p.R365W,SLC18A1:NM_001135691:exon12:c.C1093T:p.R365W,SLC18A1:NM_001142324:exon11:c.C997T:p.R333W,SLC18A1:NM_001142325:exon12:c.C1093T:p.R365W,;ANNO=splicing:SLC18A1
8	21768370	.	T	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DOK2(NM_003974:c.433-2A>G)
8	21771050	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DOK2:NM_003974:exon1:c.G63C:p.K21N,;ANNO=splicing:DOK2
8	21847855	.	G	C	100	PASS	AC=1685;STUDIES=20;MAC=1685;MAF=0.076;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:XPO7:NM_015024:exon17:c.G1869C:p.G623G,;ANNO=splicing:XPO7
8	21848323	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:XPO7:NM_015024:exon18:c.G1934A:p.S645N,;ANNO=splicing:XPO7
8	21851875	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:XPO7:NM_015024:exon20:c.G2150A:p.R717Q,;ANNO=splicing:XPO7
8	21883031	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:NPM2:NM_182795:exon3:c.C143A:p.T48K,;ANNO=nonsynonymous:NPM2:NM_182795:exon3:c.C143T:p.T48M,;ANNO=splicing:NPM2;ANNO=splicing:NPM2
8	21883032	.	G	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NPM2:NM_182795:exon3:c.G144T:p.T48T,;ANNO=splicing:NPM2
8	21883282	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NPM2:NM_182795:exon4:c.T269C:p.M90T,;ANNO=splicing:NPM2
8	21955027	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM160B2:NM_022749:exon4:c.T298C:p.Y100H,;ANNO=splicing:FAM160B2
8	21978578	.	A	G	100	PASS	AC=1233;STUDIES=17;MAC=1233;MAF=0.067;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=3;ANNO=synonymous:HR:NM_018411:exon10:c.T2367C:p.S789S,HR:NM_005144:exon10:c.T2367C:p.S789S,;ANNO=splicing:HR
8	22006489	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LGI3:NM_139278:exon8:c.C831T:p.A277A,;ANNO=splicing:LGI3
8	22019383	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SFTPC:NM_001172357:exon1:c.G42A:p.P14P,SFTPC:NM_001172410:exon1:c.G42A:p.P14P,SFTPC:NM_003018:exon1:c.G42A:p.P14P,;ANNO=splicing:SFTPC
8	22147439	.	A	G	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PIWIL2:NM_018068:exon9:c.A1066G:p.R356G,PIWIL2:NM_001135721:exon9:c.A1066G:p.R356G,;ANNO=splicing:PIWIL2
8	22167475	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PIWIL2:NM_018068:exon15:c.T1688C:p.I563T,PIWIL2:NM_001135721:exon15:c.T1688C:p.I563T,;ANNO=splicing:PIWIL2
8	22333014	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PPP3CC:NM_005605:exon3:c.A249G:p.V83V,;ANNO=splicing:PPP3CC
8	22389818	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PPP3CC:NM_005605:exon11:c.C1222T:p.R408W,;ANNO=splicing:PPP3CC
8	22412121	.	G	A	100	PASS	AC=41;STUDIES=8;MAC=41;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SORBS3:NM_005775:exon2:c.G102A:p.R34R,;ANNO=splicing:SORBS3
8	22418885	.	A	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SORBS3:NM_005775:exon6:c.A516G:p.R172R,;ANNO=splicing:SORBS3
8	22419444	.	G	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SORBS3:NM_005775:exon7:c.G584T:p.G195V,;ANNO=splicing:SORBS3
8	22421882	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SORBS3:NM_005775:exon9:c.G762T:p.R254S,;ANNO=splicing:SORBS3
8	22421982	.	C	T	100	PASS	AC=69;STUDIES=4;MAC=69;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SORBS3:NM_005775:exon10:c.C764T:p.P255L,;ANNO=splicing:SORBS3
8	22449181	.	C	T	100	PASS	AC=867;STUDIES=17;MAC=867;MAF=0.043;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:PDLIM2:NM_021630:exon9:c.C1631T:p.A544V,PDLIM2:NM_176871:exon8:c.C881T:p.A294V,;ANNO=splicing:PDLIM2
8	22474933	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1967:NM_021174:exon15:c.A1846G:p.K616E,;ANNO=splicing:KIAA1967
8	22476240	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KIAA1967:NM_021174:exon18:c.C2331T:p.F777F,;ANNO=splicing:KIAA1967
8	22571049	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PEBP4:NM_144962:exon7:c.G518T:p.G173V,;ANNO=splicing:PEBP4
8	22582468	.	G	A	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PEBP4:NM_144962:exon6:c.C405T:p.A135A,;ANNO=splicing:PEBP4
8	22777697	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PEBP4:NM_144962:exon3:c.C258T:p.D86D,;ANNO=splicing:PEBP4
8	22785097	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PEBP4:NM_144962:exon2:c.A131G:p.Q44R,;ANNO=splicing:PEBP4
8	22885843	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TNFRSF10B(NM_147187:c.661+1G>A,NM_003842:c.748+1G>A)
8	22972282	.	A	G	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:TNFRSF10C:NM_003841:exon3:c.A279G:p.S93S,;ANNO=splicing:TNFRSF10C
8	22995702	.	G	C	100	PASS	AC=43;STUDIES=3;MAC=43;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TNFRSF10D:NM_003840:exon8:c.C1026G:p.D342E,;ANNO=splicing:TNFRSF10D
8	23054646	.	C	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:TNFRSF10A:NM_003844:exon9:c.G1086T:p.E362D,;ANNO=splicing:TNFRSF10A
8	23056778	.	C	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TNFRSF10A(NM_003844:c.1014+1G>C)
8	23059322	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:TNFRSF10A:NM_003844:exon4:c.G628A:p.G210R,;ANNO=splicing:TNFRSF10A
8	23060160	.	C	G	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:TNFRSF10A(NM_003844:c.517+1G>C)
8	23217779	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LOXL2(NM_002318:c.355-1G>A)
8	23306454	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ENTPD4(NM_004901:c.8-2A>T,NM_001128930:c.8-2A>T)
8	24157589	.	A	G	100	PASS	AC=18;STUDIES=11;MAC=18;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADAM28:NM_021777:exon2:c.A149G:p.Q50R,ADAM28:NM_014265:exon2:c.A149G:p.Q50R,;ANNO=splicing:ADAM28
8	24181516	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADAM28:NM_021777:exon9:c.C890T:p.T297I,ADAM28:NM_014265:exon9:c.C890T:p.T297I,;ANNO=splicing:ADAM28
8	24181517	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADAM28(NM_014265:c.890+1G>A,NM_021777:c.890+1G>A)
8	24251659	.	T	C	100	PASS	AC=325;STUDIES=9;MAC=325;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADAMDEC1:NM_001145272:exon3:c.T125C:p.M42T,ADAMDEC1:NM_001145271:exon5:c.T125C:p.M42T,ADAMDEC1:NM_014479:exon4:c.T362C:p.M121T,;ANNO=splicing:ADAMDEC1
8	24261602	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADAMDEC1(NM_001145271:c.1169+1G>A,NM_014479:c.1406+1G>A,NM_001145272:c.1169+1G>A)
8	24339824	.	G	T	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:ADAM7:NM_003817:exon9:c.G875A:p.S292N,;ANNO=nonsynonymous:ADAM7:NM_003817:exon9:c.G875T:p.S292I,;ANNO=splicing:ADAM7;ANNO=splicing:ADAM7
8	24349417	.	T	C	100	PASS	AC=429;STUDIES=22;MAC=429;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAM7:NM_003817:exon14:c.T1358C:p.I453T,;ANNO=splicing:ADAM7
8	24771275	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NEFM
8	25126362	.	T	C	100	PASS	AC=14;STUDIES=2;MAC=14;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DOCK5:NM_024940:exon3:c.T129C:p.G43G,;ANNO=splicing:DOCK5
8	25261074	.	C	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DOCK5:NM_024940:exon48:c.C4927A:p.P1643T,;ANNO=splicing:DOCK5
8	25276976	.	C	G	100	PASS	AC=58;STUDIES=9;MAC=58;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GNRH1:NM_001083111:exon4:c.G238C:p.E80Q,GNRH1:NM_000825:exon3:c.G238C:p.E80Q,;ANNO=splicing:GNRH1
8	25279183	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GNRH1:NM_001083111:exon3:c.T143G:p.I48R,GNRH1:NM_000825:exon2:c.T143G:p.I48R,;ANNO=splicing:GNRH1
8	25280706	.	C	G	100	PASS	AC=23;STUDIES=11;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GNRH1:NM_001083111:exon2:c.G141C:p.E47D,GNRH1:NM_000825:exon1:c.G141C:p.E47D,;ANNO=splicing:GNRH1
8	26481822	.	C	T	100	PASS	AC=80;STUDIES=19;MAC=80;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DPYSL2:NM_001386:exon4:c.C477T:p.H159H,DPYSL2:NM_001197293:exon4:c.C792T:p.H264H,;ANNO=splicing:DPYSL2
8	26721603	.	C	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADRA1A(NM_033303:c.883+1G>C,NM_033302:c.883+1G>C,NM_033304:c.883+1G>C,NM_000680:c.883+1G>C)
8	27255304	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PTK2B:NM_173176:exon2:c.G203A:p.R68Q,PTK2B:NM_004103:exon3:c.G203A:p.R68Q,PTK2B:NM_173175:exon2:c.G203A:p.R68Q,PTK2B:NM_173174:exon7:c.G203A:p.R68Q,;ANNO=splicing:PTK2B
8	27293865	.	C	T	100	PASS	AC=8444;STUDIES=21;MAC=8444;MAF=0.375;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:PTK2B:NM_173176:exon15:c.C1341T:p.H447H,PTK2B:NM_004103:exon16:c.C1341T:p.H447H,PTK2B:NM_173175:exon15:c.C1341T:p.H447H,PTK2B:NM_173174:exon20:c.C1341T:p.H447H,;ANNO=splicing:PTK2B
8	27296826	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PTK2B:NM_173176:exon20:c.C1745T:p.A582V,PTK2B:NM_004103:exon21:c.C1745T:p.A582V,PTK2B:NM_173175:exon20:c.C1745T:p.A582V,PTK2B:NM_173174:exon25:c.C1745T:p.A582V,;ANNO=splicing:PTK2B
8	27303435	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTK2B:NM_173176:exon24:c.G2339A:p.R780Q,PTK2B:NM_004103:exon25:c.G2339A:p.R780Q,PTK2B:NM_173174:exon29:c.G2339A:p.R780Q,;ANNO=splicing:PTK2B
8	27309026	.	C	T	100	PASS	AC=67;STUDIES=16;MAC=67;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PTK2B:NM_173176:exon27:c.C2548T:p.L850L,PTK2B:NM_004103:exon28:c.C2548T:p.L850L,PTK2B:NM_173175:exon26:c.C2422T:p.L808L,PTK2B:NM_173174:exon32:c.C2548T:p.L850L,;ANNO=splicing:PTK2B
8	27327497	.	A	C	100	PASS	AC=45;STUDIES=2;MAC=45;MAF=0.402;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CHRNA2:NM_000742:exon3:c.T75G:p.G25G,;ANNO=splicing:CHRNA2
8	27358529	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EPHX2(NM_001979:c.186+2T>A)
8	27364389	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EPHX2:NM_001979:exon5:c.G538A:p.V180I,;ANNO=splicing:EPHX2
8	27396208	.	G	A	100	PASS	AC=1708;STUDIES=22;MAC=1708;MAF=0.070;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EPHX2:NM_001979:exon14:c.G1275A:p.A425A,;ANNO=splicing:EPHX2
8	27514397	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SCARA3:NM_182826:exon4:c.G325A:p.D109N,SCARA3:NM_016240:exon4:c.G325A:p.D109N,;ANNO=splicing:SCARA3
8	27903045	.	G	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C8orf80:NM_001010906:exon12:c.C1445T:p.P482L,;ANNO=splicing:C8orf80
8	28048668	.	A	C	100	PASS	AC=714;STUDIES=2;MAC=714;MAF=0.362;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:ELP3
8	28595036	.	G	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EXTL3:NM_001440:exon5:c.G2277T:p.R759R,;ANNO=splicing:EXTL3
8	28638341	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:INTS9:NM_001145159:exon11:c.G1206A:p.T402T,INTS9:NM_001172562:exon12:c.G1197A:p.T399T,INTS9:NM_018250:exon12:c.G1269A:p.T423T,;ANNO=splicing:INTS9
8	29940361	.	A	C	100	PASS	AC=29;STUDIES=2;MAC=29;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM66(NM_016127:c.103+2T>G)
8	30469817	.	T	C	100	PASS	AC=76;STUDIES=17;MAC=76;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GTF2E2:NM_002095:exon5:c.A548G:p.K183R,;ANNO=splicing:GTF2E2
8	30553995	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GSR:NM_001195102:exon7:c.C697T:p.R233C,GSR:NM_001195104:exon7:c.C697T:p.R233C,GSR:NM_000637:exon7:c.C697T:p.R233C,GSR:NM_001195103:exon7:c.C697T:p.R233C,;ANNO=splicing:GSR
8	30557599	.	C	T	100	PASS	AC=16;STUDIES=9;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GSR:NM_001195102:exon6:c.G694A:p.G232S,GSR:NM_001195104:exon6:c.G694A:p.G232S,GSR:NM_000637:exon6:c.G694A:p.G232S,GSR:NM_001195103:exon6:c.G694A:p.G232S,;ANNO=splicing:GSR
8	30560611	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GSR:NM_001195102:exon5:c.C639T:p.P213P,GSR:NM_001195104:exon5:c.C639T:p.P213P,GSR:NM_000637:exon5:c.C639T:p.P213P,GSR:NM_001195103:exon5:c.C639T:p.P213P,;ANNO=splicing:GSR
8	30567332	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GSR:NM_001195102:exon3:c.C421T:p.R141C,GSR:NM_001195104:exon3:c.C421T:p.R141C,GSR:NM_000637:exon3:c.C421T:p.R141C,GSR:NM_001195103:exon3:c.C421T:p.R141C,;ANNO=splicing:GSR
8	30916058	.	A	G	100	PASS	AC=91;STUDIES=16;MAC=91;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WRN:NM_000553:exon2:c.A95G:p.K32R,;ANNO=splicing:WRN
8	30948047	.	T	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:WRN:NM_000553:exon14:c.T1719G:p.T573T,;ANNO=splicing:WRN
8	33318891	.	T	C	100	PASS	AC=103;STUDIES=19;MAC=103;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FUT10:NM_032664:exon2:c.A80G:p.Q27R,;ANNO=splicing:FUT10
8	33342739	.	T	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MAK16:NM_032509:exon1:c.T15C:p.D5D,;ANNO=splicing:MAK16
8	33346315	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAK16:NM_032509:exon4:c.G239A:p.R80Q,;ANNO=splicing:MAK16
8	35541244	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UNC5D:NM_080872:exon5:c.C750T:p.Y250Y,;ANNO=splicing:UNC5D
8	36691176	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:KCNU1:NM_001031836:exon11:c.C1211A:p.A404E,;ANNO=nonsynonymous:KCNU1:NM_001031836:exon11:c.C1211T:p.A404V,;ANNO=splicing:KCNU1;ANNO=splicing:KCNU1
8	36698521	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KCNU1:NM_001031836:exon16:c.G1703T:p.C568F,;ANNO=splicing:KCNU1
8	36763226	.	G	A	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KCNU1:NM_001031836:exon20:c.G2010A:p.R670R,;ANNO=splicing:KCNU1
8	37706113	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BRF2(NM_018310:c.214+1G>A)
8	37732033	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RAB11FIP1:NM_025151:exon3:c.G1622A:p.R541Q,RAB11FIP1:NM_001002814:exon3:c.G1622A:p.R541Q,;ANNO=splicing:RAB11FIP1
8	37993283	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:ASH2L:NM_001105214:exon14:c.C1436G:p.T479R,ASH2L:NM_004674:exon14:c.C1718G:p.T573R,;ANNO=nonsynonymous:ASH2L:NM_001105214:exon14:c.C1436T:p.T479M,ASH2L:NM_004674:exon14:c.C1718T:p.T573M,;ANNO=splicing:ASH2L;ANNO=splicing:ASH2L
8	38006160	.	G	A	100	PASS	AC=17;STUDIES=11;MAC=17;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:STAR:NM_000349:exon2:c.C177T:p.L59L,;ANNO=splicing:STAR
8	38105232	.	A	G	100	PASS	AC=63;STUDIES=16;MAC=63;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DDHD2:NM_001164232:exon10:c.A1127G:p.D376G,DDHD2:NM_015214:exon10:c.A1127G:p.D376G,;ANNO=splicing:DDHD2
8	38109430	.	G	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DDHD2:NM_001164232:exon12:c.G1345T:p.G449C,DDHD2:NM_015214:exon12:c.G1345T:p.G449C,;ANNO=splicing:DDHD2
8	38147994	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:WHSC1L1:NM_023034:exon17:c.G3117T:p.K1039N,;ANNO=splicing:WHSC1L1
8	38262026	.	T	C	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LETM2(NM_001199659:c.1077+2T>C,NM_144652:c.933+2T>C,NM_001199660:c.609+2T>C)
8	38264462	.	A	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LETM2(NM_001199659:c.1077-2A>T,NM_144652:c.933-2A>T,NM_001199660:c.609-2A>T)
8	38274933	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FGFR1:NM_001174065:exon12:c.G1548A:p.S516S,FGFR1:NM_023106:exon11:c.G1281A:p.S427S,FGFR1:NM_015850:exon12:c.G1548A:p.S516S,FGFR1:NM_001174066:exon11:c.G1287A:p.S429S,FGFR1:NM_023110:exon12:c.G1554A:p.S518S,FGFR1:NM_001174063:exon12:c.G1548A:p.S516S,FGFR1:NM_001174064:exon13:c.G1524A:p.S508S,FGFR1:NM_023105:exon11:c.G1287A:p.S429S,FGFR1:NM_001174067:exon13:c.G1647A:p.S549S,;ANNO=splicing:FGFR1
8	38835666	.	T	C	100	PASS	AC=17430;STUDIES=21;MAC=5078;MAF=0.226;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:HTRA4:NM_153692:exon4:c.T966C:p.N322N,;ANNO=splicing:HTRA4
8	38840075	.	G	A	100	PASS	AC=18;STUDIES=4;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HTRA4(NM_153692:c.1172+1G>A)
8	38845455	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HTRA4:NM_153692:exon9:c.C1269T:p.S423S,;ANNO=splicing:HTRA4
8	38854041	.	C	T	100	PASS	AC=629;STUDIES=3;MAC=629;MAF=0.321;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:TM2D2
8	38912091	.	G	A	100	PASS	AC=30;STUDIES=4;MAC=30;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADAM9:NM_003816:exon13:c.G1394A:p.R465Q,;ANNO=splicing:ADAM9
8	38959383	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAM9:NM_003816:exon21:c.C2300T:p.P767L,;ANNO=splicing:ADAM9
8	39022284	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADAM32:NM_145004:exon8:c.A596G:p.Y199C,;ANNO=splicing:ADAM32
8	39114861	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADAM32:NM_145004:exon19:c.G2161A:p.E721K,;ANNO=splicing:ADAM32
8	39142312	.	T	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAM32:NM_145004:exon25:c.T2358A:p.S786R,;ANNO=splicing:ADAM32
8	39442197	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADAM18(NM_014237:c.55+1G>A,NM_001190956:c.55+1G>A)
8	39494782	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADAM18(NM_014237:c.588-1G>A)
8	39564310	.	T	A	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAM18:NM_014237:exon18:c.T1904A:p.I635K,;ANNO=splicing:ADAM18
8	39581425	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADAM18:NM_014237:exon19:c.C2176T:p.R726C,;ANNO=splicing:ADAM18
8	39603992	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADAM2:NM_001464:exon19:c.G2173A:p.E725K,;ANNO=splicing:ADAM2
8	39606830	.	C	G	100	PASS	AC=57;STUDIES=4;MAC=57;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADAM2(NM_001464:c.2014+1G>C)
8	39646261	.	T	A	100	PASS	AC=128;STUDIES=15;MAC=128;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADAM2(NM_001464:c.570-2A>T)
8	40683094	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZMAT4:NM_024645:exon2:c.G102A:p.E34E,ZMAT4:NM_001135731:exon2:c.G102A:p.E34E,;ANNO=splicing:ZMAT4
8	41456823	.	G	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AGPAT6:NM_178819:exon2:c.G165A:p.A55A,;ANNO=splicing:AGPAT6
8	41467003	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AGPAT6:NM_178819:exon3:c.C234T:p.N78N,;ANNO=splicing:AGPAT6
8	41559139	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ANK1:NM_020475:exon22:c.T2390C:p.L797S,ANK1:NM_020476:exon22:c.T2390C:p.L797S,ANK1:NM_000037:exon22:c.T2390C:p.L797S,ANK1:NM_020477:exon22:c.T2390C:p.L797S,ANK1:NM_001142446:exon22:c.T2489C:p.L830S,;ANNO=splicing:ANK1
8	41561560	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ANK1:NM_020475:exon20:c.C2294T:p.S765L,ANK1:NM_020476:exon20:c.C2294T:p.S765L,ANK1:NM_000037:exon20:c.C2294T:p.S765L,ANK1:NM_020477:exon20:c.C2294T:p.S765L,ANK1:NM_001142446:exon20:c.C2393T:p.S798L,;ANNO=splicing:ANK1
8	42037444	.	A	G	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLAT:NM_033011:exon11:c.T1225C:p.L409L,PLAT:NM_000930:exon12:c.T1363C:p.L455L,;ANNO=splicing:PLAT
8	42177163	.	G	A	100	PASS	AC=173;STUDIES=6;MAC=173;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IKBKB:NM_001190720:exon14:c.G1571A:p.R524Q,IKBKB:NM_001556:exon15:c.G1577A:p.R526Q,;ANNO=splicing:IKBKB
8	42296969	.	G	A	100	PASS	AC=96;STUDIES=20;MAC=96;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC20A2:NM_006749:exon7:c.C933T:p.Y311Y,;ANNO=splicing:SLC20A2
8	42552742	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CHRNB3(NM_000749:c.52+1G>A)
8	42612181	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CHRNA6(NM_004198:c.264-1G>T,NM_001199279:c.219-1G>T)
8	42620347	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CHRNA6:NM_004198:exon2:c.G80A:p.G27D,CHRNA6:NM_001199279:exon2:c.G80A:p.G27D,;ANNO=splicing:CHRNA6
8	42623496	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CHRNA6:NM_004198:exon1:c.A78T:p.K26N,CHRNA6:NM_001199279:exon1:c.A78T:p.K26N,;ANNO=splicing:CHRNA6
8	43046738	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HGSNAT:NM_152419:exon12:c.C1250T:p.T417I,;ANNO=splicing:HGSNAT
8	43152162	.	G	C	100	PASS	AC=56;STUDIES=10;MAC=56;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:POTEA(NM_001005365:c.299-1G>C,NM_001002920:c.299-1G>C)
8	48309185	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA0146:NM_001080394:exon6:c.T775C:p.Y259H,;ANNO=splicing:KIAA0146
8	48697675	.	G	A	100	PASS	AC=15;STUDIES=4;MAC=15;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRKDC:NM_001081640:exon77:c.C11105T:p.P3702L,PRKDC:NM_006904:exon77:c.C11105T:p.P3702L,;ANNO=splicing:PRKDC
8	48730122	.	C	T	100	PASS	AC=59;STUDIES=12;MAC=59;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PRKDC:NM_001081640:exon68:c.G9445A:p.A3149T,PRKDC:NM_006904:exon68:c.G9445A:p.A3149T,;ANNO=splicing:PRKDC
8	48736557	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PRKDC:NM_001081640:exon64:c.G8783A:p.S2928N,PRKDC:NM_006904:exon64:c.G8783A:p.S2928N,;ANNO=splicing:PRKDC
8	48772173	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRKDC:NM_001081640:exon46:c.G6205A:p.G2069R,PRKDC:NM_006904:exon46:c.G6205A:p.G2069R,;ANNO=splicing:PRKDC
8	48878747	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MCM4:NM_182746:exon9:c.A833G:p.D278G,MCM4:NM_005914:exon8:c.A833G:p.D278G,;ANNO=splicing:MCM4
8	48887523	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MCM4(NM_005914:c.2365+1G>A,NM_182746:c.2365+1G>A)
8	49637360	.	T	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EFCAB1:NM_024593:exon6:c.A577T:p.S193C,EFCAB1:NM_001142857:exon5:c.A421T:p.S141C,;ANNO=splicing:EFCAB1
8	51314904	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SNTG1:NM_018967:exon4:c.T162C:p.G54G,;ANNO=splicing:SNTG1
8	51363116	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SNTG1:NM_018967:exon7:c.C278T:p.A93V,;ANNO=splicing:SNTG1
8	51569585	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SNTG1:NM_018967:exon14:c.A966G:p.P322P,;ANNO=splicing:SNTG1
8	52361678	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PXDNL:NM_144651:exon11:c.C1250T:p.A417V,;ANNO=splicing:PXDNL
8	52387532	.	G	C	100	PASS	AC=130;STUDIES=7;MAC=130;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=stopgain:PXDNL:NM_144651:exon7:c.C694T:p.Q232X,;ANNO=nonsynonymous:PXDNL:NM_144651:exon7:c.C694G:p.Q232E,;ANNO=splicing:PXDNL;ANNO=splicing:PXDNL
8	52387700	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PXDNL:NM_144651:exon7:c.C526T:p.R176C,;ANNO=splicing:PXDNL
8	53044738	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ST18:NM_014682:exon22:c.T2446C:p.C816R,;ANNO=splicing:ST18
8	53084352	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ST18:NM_014682:exon10:c.C1069T:p.H357Y,;ANNO=splicing:ST18
8	53571536	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RB1CC1:NM_001083617:exon13:c.A1690G:p.T564A,RB1CC1:NM_014781:exon13:c.A1690G:p.T564A,;ANNO=splicing:RB1CC1
8	54682303	.	A	G	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ATP6V1H:NM_015941:exon11:c.T1050C:p.S350S,ATP6V1H:NM_213619:exon10:c.T996C:p.S332S,ATP6V1H:NM_213620:exon11:c.T1050C:p.S350S,;ANNO=splicing:ATP6V1H
8	54978372	.	G	A	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:LYPLA1:NM_006330:exon3:c.C103T:p.H35Y,;ANNO=splicing:LYPLA1
8	55014316	.	G	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LYPLA1:NM_006330:exon1:c.C68A:p.A23E,;ANNO=splicing:LYPLA1
8	55055347	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MRPL15(NM_014175:c.553+1G>A)
8	56864526	.	A	C	100	PASS	AC=12;STUDIES=8;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LYN:NM_002350:exon7:c.A489C:p.G163G,LYN:NM_001111097:exon7:c.A426C:p.G142G,;ANNO=splicing:LYN
8	59329511	.	C	T	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UBXN2B:NM_001077619:exon2:c.C187T:p.R63W,;ANNO=splicing:UBXN2B
8	59407065	.	C	T	100	PASS	AC=87;STUDIES=8;MAC=87;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CYP7A1:NM_000780:exon4:c.G1039A:p.D347N,;ANNO=splicing:CYP7A1
8	61471412	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RAB2A:NM_002865:exon2:c.A48C:p.R16R,;ANNO=splicing:RAB2A
8	61766059	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CHD7:NM_017780:exon31:c.G6775A:p.A2259T,;ANNO=splicing:CHD7
8	62475438	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ASPH:NM_004318:exon18:c.T1302G:p.G434G,ASPH:NM_001164750:exon18:c.T1215G:p.G405G,;ANNO=splicing:ASPH
8	62496504	.	C	A	100	PASS	AC=34;STUDIES=6;MAC=34;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ASPH:NM_004318:exon15:c.G1061T:p.R354M,ASPH:NM_001164750:exon15:c.G974T:p.R325M,;ANNO=splicing:ASPH
8	63978463	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TTPA:NM_000370:exon3:c.G552A:p.T184T,;ANNO=splicing:TTPA
8	63985494	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TTPA:NM_000370:exon2:c.G358A:p.A120T,;ANNO=splicing:TTPA
8	65509486	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CYP7B1:NM_004820:exon6:c.G1234A:p.E412K,;ANNO=splicing:CYP7B1
8	66525480	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARMC1:NM_018120:exon4:c.C464T:p.T155M,;ANNO=splicing:ARMC1
8	66651738	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PDE7A:NM_002603:exon6:c.A516G:p.L172L,PDE7A:NM_001242318:exon6:c.A594G:p.L198L,;ANNO=splicing:PDE7A
8	67047224	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRIM55(NM_184085:c.341-1G>A,NM_033058:c.341-1G>A,NM_184087:c.341-1G>A,NM_184086:c.341-1G>A)
8	67064613	.	A	G	100	PASS	AC=130;STUDIES=5;MAC=130;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TRIM55:NM_184085:exon8:c.A987G:p.E329E,TRIM55:NM_033058:exon8:c.A987G:p.E329E,TRIM55:NM_184086:exon8:c.A987G:p.E329E,;ANNO=splicing:TRIM55
8	67417763	.	G	A	100	PASS	AC=43;STUDIES=5;MAC=43;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C8orf46:NM_152765:exon3:c.G280A:p.V94M,;ANNO=splicing:C8orf46
8	67740937	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C8orf44-SGK3:NM_001204173:exon9:c.C466A:p.H156N,SGK3:NM_001033578:exon7:c.C466A:p.H156N,SGK3:NM_013257:exon7:c.C466A:p.H156N,SGK3:NM_170709:exon7:c.C466A:p.H156N,;ANNO=splicing:C8orf44-SGK3,SGK3
8	67817462	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C8orf45:NM_173518:exon14:c.G1771A:p.V591I,C8orf45:NM_001136160:exon14:c.G1771A:p.V591I,;ANNO=splicing:C8orf45
8	67922949	.	C	T	100	PASS	AC=51;STUDIES=15;MAC=51;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LRRC67(NM_001013626:c.552+1G>A)
8	68062019	.	T	C	100	PASS	AC=75;STUDIES=6;MAC=75;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CSPP1:NM_024790:exon16:c.T1962C:p.T654T,;ANNO=splicing:CSPP1
8	68062171	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CSPP1(NM_024790:c.2113+1G>A)
8	68087671	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CSPP1:NM_024790:exon24:c.G3094A:p.V1032I,;ANNO=splicing:CSPP1
8	68163686	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ARFGEF1(NM_006421:c.2698-1G>A)
8	68396094	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CPA6(NM_020361:c.747-1G>A)
8	68396915	.	T	C	100	PASS	AC=3076;STUDIES=22;MAC=3076;MAF=0.129;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CPA6:NM_020361:exon7:c.A746G:p.N249S,;ANNO=splicing:CPA6
8	68956825	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PREX2:NM_025170:exon8:c.G943A:p.A315T,PREX2:NM_024870:exon8:c.G943A:p.A315T,;ANNO=splicing:PREX2
8	68972914	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PREX2:NM_025170:exon11:c.C1239T:p.S413S,PREX2:NM_024870:exon11:c.C1239T:p.S413S,;ANNO=splicing:PREX2
8	68972915	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PREX2:NM_025170:exon11:c.G1240A:p.E414K,PREX2:NM_024870:exon11:c.G1240A:p.E414K,;ANNO=splicing:PREX2
8	69012080	.	T	C	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PREX2(NM_025170:c.2715+2T>C,NM_024870:c.2715+2T>C)
8	69020567	.	G	T	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PREX2(NM_024870:c.2938+1G>T)
8	69104759	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:PREX2:NM_024870:exon37:c.C4603A:p.R1535R,;ANNO=nonsynonymous:PREX2:NM_024870:exon37:c.C4603T:p.R1535W,;ANNO=splicing:PREX2;ANNO=splicing:PREX2
8	69621313	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C8orf34:NM_052958:exon9:c.C1326T:p.F442F,;ANNO=splicing:C8orf34
8	69699676	.	A	C	100	PASS	AC=12;STUDIES=7;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C8orf34(NM_052958:c.1455-2A>C)
8	70498593	.	C	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SULF1:NM_001128205:exon7:c.C414A:p.A138A,SULF1:NM_001128204:exon6:c.C414A:p.A138A,SULF1:NM_015170:exon7:c.C414A:p.A138A,SULF1:NM_001128206:exon6:c.C414A:p.A138A,;ANNO=splicing:SULF1
8	70536177	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SULF1:NM_001128205:exon15:c.A1595G:p.K532R,SULF1:NM_001128204:exon14:c.A1595G:p.K532R,SULF1:NM_015170:exon15:c.A1595G:p.K532R,SULF1:NM_001128206:exon14:c.A1595G:p.K532R,;ANNO=splicing:SULF1
8	70570741	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SULF1:NM_001128205:exon23:c.G2587A:p.G863R,SULF1:NM_001128204:exon22:c.G2587A:p.G863R,SULF1:NM_015170:exon23:c.G2587A:p.G863R,SULF1:NM_001128206:exon22:c.G2587A:p.G863R,;ANNO=splicing:SULF1
8	70594420	.	C	A	100	PASS	AC=282;STUDIES=17;MAC=282;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLCO5A1:NM_030958:exon7:c.G1781T:p.G594V,SLCO5A1:NM_001146008:exon6:c.G1781T:p.G594V,SLCO5A1:NM_001146009:exon5:c.G1616T:p.G539V,;ANNO=splicing:SLCO5A1
8	71619168	.	G	T	100	PASS	AC=16;STUDIES=7;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:XKR9:NM_001011720:exon4:c.G273T:p.R91S,;ANNO=splicing:XKR9
8	72936145	.	T	C	100	PASS	AC=3691;STUDIES=22;MAC=3691;MAF=0.154;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRPA1:NM_007332:exon26:c.A3053G:p.H1018R,;ANNO=splicing:TRPA1
8	72959383	.	A	G	100	PASS	AC=117;STUDIES=17;MAC=117;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TRPA1:NM_007332:exon16:c.T1965C:p.Y655Y,;ANNO=splicing:TRPA1
8	73982215	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C8orf84:NM_153225:exon4:c.T502A:p.Y168N,;ANNO=splicing:C8orf84
8	73984105	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C8orf84:NM_153225:exon3:c.T410A:p.V137D,;ANNO=splicing:C8orf84
8	74893388	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM70(NM_017866:c.316-2A>G,NM_001040613:c.330-2A>G)
8	74941306	.	A	C	100	PASS	AC=158;STUDIES=2;MAC=158;MAF=0.055;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:LY96
8	75275287	.	A	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GDAP1:NM_018972:exon5:c.A693T:p.P231P,GDAP1:NM_001040875:exon5:c.A489T:p.P163P,;ANNO=splicing:GDAP1
8	75757618	.	T	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PI15:NM_015886:exon5:c.T527C:p.M176T,;ANNO=splicing:PI15
8	81605240	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF704:NM_001033723:exon3:c.C324T:p.N108N,;ANNO=splicing:ZNF704
8	82391647	.	A	G	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FABP4(NM_001442:c.348+2T>C)
8	82615337	.	A	C	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZFAND1:NM_001170797:exon7:c.T503G:p.V168G,ZFAND1:NM_024699:exon7:c.T503G:p.V168G,ZFAND1:NM_001170796:exon7:c.T482G:p.V161G,;ANNO=splicing:ZFAND1
8	85686889	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RALYL:NM_001100392:exon4:c.G332A:p.R111K,RALYL:NM_001100391:exon3:c.G371A:p.R124K,RALYL:NM_001100393:exon3:c.G332A:p.R111K,RALYL:NM_173848:exon3:c.G332A:p.R111K,;ANNO=splicing:RALYL
8	86053617	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LRRCC1:NM_033402:exon18:c.G2841A:p.K947K,;ANNO=splicing:LRRCC1
8	86118454	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:E2F5:NM_001083588:exon4:c.T549A:p.N183K,E2F5:NM_001951:exon4:c.T549A:p.N183K,E2F5:NM_001083589:exon4:c.T66A:p.N22K,;ANNO=splicing:E2F5
8	86127149	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C8orf59(NM_001099673:c.231+1G>T,NM_001099672:c.231+1G>T,NM_001099671:c.231+1G>T,NM_001099670:c.231+1G>T)
8	86131463	.	A	T	100	PASS	AC=1304;STUDIES=2;MAC=670;MAF=0.339;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C8orf59
8	86244781	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CA1:NM_001128829:exon7:c.G451A:p.V151I,CA1:NM_001164830:exon5:c.G451A:p.V151I,CA1:NM_001128831:exon6:c.G451A:p.V151I,CA1:NM_001738:exon7:c.G451A:p.V151I,CA1:NM_001128830:exon7:c.G451A:p.V151I,;ANNO=splicing:CA1
8	87081851	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PSKH2:NM_033126:exon1:c.A1G:p.M1V,;ANNO=splicing:PSKH2
8	87153758	.	G	A	100	PASS	AC=29;STUDIES=9;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ATP6V0D2:NM_152565:exon4:c.G561A:p.K187K,;ANNO=splicing:ATP6V0D2
8	87163770	.	G	T	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:ATP6V0D2(NM_152565:c.891+1G>A);ANNO=splicing:ATP6V0D2(NM_152565:c.891+1G>T)
8	87229698	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:SLC7A13(NM_138817:c.1179+1G>A)
8	87437452	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:WWP1:NM_007013:exon10:c.G1062A:p.G354G,;ANNO=splicing:WWP1
8	87500869	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM82B(NM_016033:c.247-1G>A)
8	87543456	.	C	T	100	PASS	AC=43;STUDIES=6;MAC=43;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CPNE3:NM_003909:exon5:c.C386T:p.T129M,;ANNO=splicing:CPNE3
8	87556968	.	G	A	100	PASS	AC=189;STUDIES=20;MAC=189;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CPNE3:NM_003909:exon9:c.G634A:p.V212M,;ANNO=splicing:CPNE3
8	87560528	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CPNE3(NM_003909:c.879-1G>T)
8	87560661	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CPNE3:NM_003909:exon12:c.G1012A:p.A338T,;ANNO=splicing:CPNE3
8	87560663	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CPNE3(NM_003909:c.1013+1G>A)
8	87563330	.	T	G	100	PASS	AC=65;STUDIES=3;MAC=65;MAF=0.097;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CPNE3(NM_003909:c.1068+2T>G)
8	87917310	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CNBD1:NM_173538:exon3:c.C160T:p.R54W,;ANNO=splicing:CNBD1
8	90949252	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NBN(NM_002485:c.2234+2T>G)
8	91937883	.	A	G	100	PASS	AC=15;STUDIES=4;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NECAB1:NM_022351:exon7:c.A615G:p.P205P,;ANNO=splicing:NECAB1
8	91940452	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NECAB1:NM_022351:exon8:c.C618T:p.G206G,;ANNO=splicing:NECAB1
8	92033484	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TMEM55A:NM_018710:exon2:c.G255A:p.T85T,;ANNO=splicing:TMEM55A
8	92033632	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TMEM55A:NM_018710:exon2:c.C107T:p.A36V,;ANNO=splicing:TMEM55A
8	92213022	.	T	A	100	PASS	AC=75;STUDIES=3;MAC=75;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LRRC69(NM_001129890:c.933+2T>A)
8	92346523	.	A	G	100	PASS	AC=701;STUDIES=21;MAC=701;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC26A7:NM_134266:exon6:c.A643G:p.I215V,SLC26A7:NM_052832:exon6:c.A643G:p.I215V,;ANNO=splicing:SLC26A7
8	94767139	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM67
8	94767249	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM67:NM_153704:exon1:c.C107T:p.A36V,;ANNO=splicing:TMEM67
8	94784818	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM67:NM_153704:exon7:c.G653C:p.G218A,TMEM67:NM_001142301:exon8:c.G410C:p.G137A,;ANNO=splicing:TMEM67
8	94811986	.	G	A	100	PASS	AC=32;STUDIES=13;MAC=32;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TMEM67:NM_153704:exon21:c.G2241A:p.Q747Q,TMEM67:NM_001142301:exon22:c.G1998A:p.Q666Q,;ANNO=splicing:TMEM67
8	94816990	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TMEM67:NM_153704:exon23:c.A2323G:p.I775V,TMEM67:NM_001142301:exon24:c.A2080G:p.I694V,;ANNO=splicing:TMEM67
8	95161102	.	G	A	100	PASS	AC=2897;STUDIES=22;MAC=2897;MAF=0.119;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CDH17:NM_001144663:exon14:c.C1797T:p.S599S,CDH17:NM_004063:exon14:c.C1797T:p.S599S,;ANNO=splicing:CDH17
8	95188906	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CDH17:NM_001144663:exon5:c.T287C:p.V96A,CDH17:NM_004063:exon5:c.T287C:p.V96A,;ANNO=splicing:CDH17
8	95738670	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DPY19L4(NM_181787:c.127+1G>A)
8	95793310	.	A	T	100	PASS	AC=54;STUDIES=3;MAC=54;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DPY19L4(NM_181787:c.1632-2A>T)
8	95800280	.	C	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DPY19L4:NM_181787:exon18:c.C2007T:p.H669H,;ANNO=splicing:DPY19L4
8	95878387	.	A	C	100	PASS	AC=74;STUDIES=17;MAC=74;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:INTS8:NM_017864:exon18:c.A2263C:p.S755R,;ANNO=splicing:INTS8
8	97247771	.	G	A	100	PASS	AC=21;STUDIES=5;MAC=21;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:UQCRB
8	97285617	.	T	C	100	PASS	AC=140;STUDIES=9;MAC=140;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PTDSS1:NM_014754:exon2:c.T270C:p.N90N,;ANNO=splicing:PTDSS1
8	98817579	.	A	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LAPTM4B(NM_018407:c.372-2A>T)
8	98954005	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MATN2:NM_030583:exon4:c.C713T:p.T238M,MATN2:NM_002380:exon4:c.C713T:p.T238M,;ANNO=splicing:MATN2
8	99019456	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MATN2(NM_030583:c.1450+1G>A,NM_002380:c.1450+1G>A)
8	99118501	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HRSP12:NM_005836:exon3:c.C225T:p.N75N,;ANNO=splicing:HRSP12
8	99142206	.	G	A	100	PASS	AC=24;STUDIES=9;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:POP1:NM_001145860:exon5:c.G487A:p.A163T,POP1:NM_015029:exon5:c.G487A:p.A163T,POP1:NM_001145861:exon5:c.G487A:p.A163T,;ANNO=splicing:POP1
8	99142207	.	C	T	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:POP1:NM_001145860:exon5:c.C488T:p.A163V,POP1:NM_015029:exon5:c.C488T:p.A163V,POP1:NM_001145861:exon5:c.C488T:p.A163V,;ANNO=splicing:POP1
8	99168279	.	C	T	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:POP1:NM_001145860:exon15:c.C2059T:p.R687C,POP1:NM_015029:exon15:c.C2059T:p.R687C,POP1:NM_001145861:exon15:c.C2059T:p.R687C,;ANNO=splicing:POP1
8	99205612	.	C	T	100	PASS	AC=10726;STUDIES=18;MAC=10186;MAF=0.487;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:NIPAL2(NM_024759:c.1067+1G>A)
8	99205614	.	T	G	100	PASS	AC=188;STUDIES=10;MAC=188;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=synonymous:NIPAL2:NM_024759:exon11:c.A1066C:p.R356R,;ANNO=splicing:NIPAL2
8	99248383	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NIPAL2:NM_024759:exon4:c.G436A:p.G146S,;ANNO=splicing:NIPAL2
8	100287484	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VPS13B(NM_152564:c.2824+2T>G,NM_017890:c.2824+2T>G)
8	100711754	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VPS13B:NM_152564:exon36:c.G6048A:p.A2016A,VPS13B:NM_017890:exon36:c.G6123A:p.A2041A,;ANNO=splicing:VPS13B
8	100844598	.	A	T	100	PASS	AC=60;STUDIES=2;MAC=60;MAF=0.095;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:VPS13B:NM_152564:exon52:c.A9332T:p.Y3111F,VPS13B:NM_017890:exon52:c.A9407T:p.Y3136F,;ANNO=splicing:VPS13B
8	100861004	.	G	A	100	PASS	AC=79;STUDIES=8;MAC=79;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VPS13B:NM_152564:exon55:c.G9943A:p.V3315I,VPS13B:NM_017890:exon55:c.G10018A:p.V3340I,;ANNO=splicing:VPS13B
8	101011489	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RGS22(NM_015668:c.2949+1G>A)
8	101196856	.	G	C	100	PASS	AC=101;STUDIES=8;MAC=101;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPAG1:NM_003114:exon7:c.G596C:p.G199A,SPAG1:NM_172218:exon7:c.G596C:p.G199A,;ANNO=splicing:SPAG1
8	101629847	.	C	T	100	PASS	AC=20;STUDIES=7;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SNX31(NM_152628:c.432+1G>A)
8	101642553	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SNX31(NM_152628:c.321+2T>G)
8	101725408	.	C	G	100	PASS	AC=175;STUDIES=3;MAC=175;MAF=0.107;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:PABPC1:NM_002568:exon5:c.G645C:p.G215G,;ANNO=splicing:PABPC1
8	101725411	.	T	A	100	PASS	AC=53;STUDIES=2;MAC=53;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;SNP_ON_LEFT;ANNO=splicing:PABPC1(NM_002568:c.643-2A>T)
8	102564943	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GRHL2:NM_024915:exon3:c.G217A:p.V73I,;ANNO=splicing:GRHL2
8	103307557	.	A	G	100	PASS	AC=30;STUDIES=5;MAC=30;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UBR5:NM_015902:exon31:c.T3933C:p.D1311D,;ANNO=splicing:UBR5
8	103308010	.	T	C	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UBR5:NM_015902:exon29:c.A3666G:p.K1222K,;ANNO=splicing:UBR5
8	103852050	.	G	A	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AZIN1:NM_015878:exon5:c.C104T:p.T35I,AZIN1:NM_148174:exon4:c.C104T:p.T35I,;ANNO=splicing:AZIN1
8	104153284	.	G	A	100	PASS	AC=18;STUDIES=2;MAC=18;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BAALC:NM_024812:exon1:c.G159A:p.S53S,BAALC:NM_001024372:exon1:c.G159A:p.S53S,;ANNO=splicing:BAALC
8	104388187	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CTHRC1:NM_138455:exon2:c.G372A:p.A124A,;ANNO=splicing:CTHRC1
8	104943491	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RIMS2:NM_001100117:exon12:c.A2245G:p.I749V,RIMS2:NM_014677:exon9:c.A1621G:p.I541V,;ANNO=splicing:RIMS2
8	105405011	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DPYS(NM_001385:c.1443+1G>A)
8	106573591	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZFPM2:NM_012082:exon4:c.G302A:p.G101E,;ANNO=splicing:ZFPM2
8	107696586	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OXR1:NM_181354:exon4:c.C503T:p.T168I,OXR1:NM_018002:exon6:c.C524T:p.T175I,OXR1:NM_001198533:exon6:c.C524T:p.T175I,OXR1:NM_001198532:exon5:c.C527T:p.T176I,;ANNO=splicing:OXR1
8	108970309	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RSPO2:NM_178565:exon5:c.A615G:p.G205G,;ANNO=splicing:RSPO2
8	110451125	.	G	A	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PKHD1L1(NM_177531:c.3760-1G>A)
8	110464510	.	G	A	100	PASS	AC=129;STUDIES=13;MAC=129;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PKHD1L1(NM_177531:c.6507+1G>A)
8	110472066	.	G	C	100	PASS	AC=691;STUDIES=14;MAC=691;MAF=0.040;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PKHD1L1(NM_177531:c.7246+1G>C)
8	110477475	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PKHD1L1(NM_177531:c.8413+1G>A)
8	110535120	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PKHD1L1(NM_177531:c.12330+1G>A)
8	110535460	.	A	G	100	PASS	AC=51;STUDIES=2;MAC=51;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PKHD1L1(NM_177531:c.12330-2A>G)
8	113275868	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CSMD3:NM_198123:exon61:c.C9862T:p.P3288S,CSMD3:NM_198124:exon62:c.C9742T:p.P3248S,CSMD3:NM_052900:exon59:c.C9355T:p.P3119S,;ANNO=splicing:CSMD3
8	113347559	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CSMD3:NM_198123:exon45:c.C7164T:p.H2388H,CSMD3:NM_198124:exon46:c.C7044T:p.H2348H,CSMD3:NM_052900:exon44:c.C6852T:p.H2284H,;ANNO=splicing:CSMD3
8	113418955	.	A	G	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CSMD3:NM_198123:exon35:c.T5607C:p.A1869A,CSMD3:NM_198124:exon36:c.T5487C:p.A1829A,CSMD3:NM_052900:exon34:c.T5295C:p.A1765A,;ANNO=splicing:CSMD3
8	113484935	.	C	T	100	PASS	AC=1613;STUDIES=21;MAC=1613;MAF=0.068;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CSMD3:NM_198123:exon32:c.G5280A:p.A1760A,CSMD3:NM_198124:exon33:c.G5160A:p.A1720A,CSMD3:NM_052900:exon31:c.G4968A:p.A1656A,;ANNO=splicing:CSMD3
8	117879001	.	C	T	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RAD21
8	118159193	.	T	C	100	PASS	AC=38;STUDIES=6;MAC=38;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC30A8:NM_173851:exon2:c.T72C:p.S24S,;ANNO=splicing:SLC30A8
8	118175769	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC30A8:NM_173851:exon6:c.G829A:p.G277S,SLC30A8:NM_001172813:exon9:c.G682A:p.G228S,SLC30A8:NM_001172811:exon8:c.G682A:p.G228S,SLC30A8:NM_001172814:exon7:c.G682A:p.G228S,SLC30A8:NM_001172815:exon9:c.G682A:p.G228S,;ANNO=splicing:SLC30A8
8	118849440	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EXT1:NM_000127:exon2:c.G963A:p.K321K,;ANNO=splicing:EXT1
8	120430298	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NOV:NM_002514:exon3:c.C311T:p.A104V,;ANNO=splicing:NOV
8	120592406	.	T	C	100	PASS	AC=41;STUDIES=3;MAC=41;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ENPP2:NM_001130863:exon19:c.A1730G:p.N577S,ENPP2:NM_006209:exon20:c.A1886G:p.N629S,ENPP2:NM_001040092:exon19:c.A1730G:p.N577S,;ANNO=splicing:ENPP2
8	120599285	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ENPP2:NM_001130863:exon14:c.C1238T:p.T413M,ENPP2:NM_006209:exon15:c.C1394T:p.T465M,ENPP2:NM_001040092:exon14:c.C1238T:p.T413M,;ANNO=splicing:ENPP2
8	121015349	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DEPTOR:NM_022783:exon6:c.C924A:p.S308S,;ANNO=splicing:DEPTOR
8	121237452	.	C	T	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL14A1:NM_021110:exon15:c.C1863T:p.T621T,;ANNO=splicing:COL14A1
8	121239591	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL14A1:NM_021110:exon17:c.C2137T:p.L713F,;ANNO=splicing:COL14A1
8	121243856	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL14A1:NM_021110:exon19:c.C2348T:p.T783M,;ANNO=splicing:COL14A1
8	121302005	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL14A1:NM_021110:exon34:c.G4236A:p.P1412P,;ANNO=splicing:COL14A1
8	121312972	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL14A1:NM_021110:exon36:c.G4316A:p.R1439K,;ANNO=splicing:COL14A1
8	121381724	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL14A1:NM_021110:exon47:c.G5311A:p.A1771T,;ANNO=splicing:COL14A1
8	121457827	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MTBP:NM_022045:exon1:c.G117C:p.P39P,;ANNO=splicing:MTBP
8	121530092	.	C	T	100	PASS	AC=176;STUDIES=19;MAC=176;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MTBP:NM_022045:exon19:c.C2248T:p.L750F,;ANNO=splicing:MTBP
8	121530944	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MTBP:NM_022045:exon20:c.A2497T:p.I833L,;ANNO=splicing:MTBP
8	124138928	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR67(NM_001145088:c.1884+1G>A,NM_145647:c.1884+1G>A)
8	124154697	.	G	T	100	PASS	AC=2620;STUDIES=15;MAC=2620;MAF=0.187;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR67(NM_145647:c.2835+1G>T)
8	124206388	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM83A:NM_032899:exon3:c.G773T:p.S258I,FAM83A:NM_207006:exon3:c.G773T:p.S258I,;ANNO=splicing:FAM83A
8	124238872	.	C	T	100	PASS	AC=453;STUDIES=13;MAC=453;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZHX1-C8ORF76:NM_001204180:exon6:c.G720A:p.R240R,C8orf76:NM_032847:exon5:c.G816A:p.R272R,;ANNO=splicing:C8orf76,ZHX1-C8ORF76
8	124440262	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:WDYHV1:NM_018024:exon2:c.T182C:p.M61T,;ANNO=splicing:WDYHV1
8	124663818	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KLHL38:NM_001081675:exon1:c.A1349G:p.Q450R,;ANNO=splicing:KLHL38
8	124982337	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FER1L6:NM_001039112:exon6:c.C447T:p.S149S,;ANNO=splicing:FER1L6
8	125033908	.	A	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FER1L6:NM_001039112:exon17:c.A2132T:p.E711V,;ANNO=splicing:FER1L6
8	125074273	.	G	A	100	PASS	AC=58;STUDIES=8;MAC=58;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FER1L6:NM_001039112:exon25:c.G3328A:p.D1110N,;ANNO=splicing:FER1L6
8	125076589	.	T	G	100	PASS	AC=19318;STUDIES=21;MAC=3590;MAF=0.157;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FER1L6:NM_001039112:exon26:c.T3330G:p.D1110E,;ANNO=splicing:FER1L6
8	125103824	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FER1L6:NM_001039112:exon34:c.G4552A:p.D1518N,;ANNO=splicing:FER1L6
8	125110124	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FER1L6:NM_001039112:exon37:c.G4883T:p.G1628V,;ANNO=splicing:FER1L6
8	125520754	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TATDN1:NM_001146160:exon6:c.C336G:p.D112E,TATDN1:NM_032026:exon8:c.C477G:p.D159E,;ANNO=splicing:TATDN1
8	126015418	.	C	T	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SQLE:NM_003129:exon2:c.C292T:p.R98C,;ANNO=splicing:SQLE
8	126021414	.	A	T	100	PASS	AC=246;STUDIES=18;MAC=246;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SQLE:NM_003129:exon6:c.A937T:p.N313Y,;ANNO=splicing:SQLE
8	130762676	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GSDMC(NM_031415:c.1083+1G>T)
8	130764945	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GSDMC:NM_031415:exon7:c.A843G:p.P281P,;ANNO=splicing:GSDMC
8	130774873	.	T	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GSDMC:NM_031415:exon5:c.A675C:p.K225N,;ANNO=splicing:GSDMC
8	133078133	.	T	A	100	PASS	AC=16;STUDIES=2;MAC=16;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HHLA1:NM_001145095:exon15:c.A1552T:p.T518S,;ANNO=splicing:HHLA1
8	133112323	.	C	T	100	PASS	AC=24;STUDIES=2;MAC=24;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HHLA1:NM_001145095:exon3:c.G198A:p.T66T,;ANNO=splicing:HHLA1
8	133623608	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRRC6:NM_012472:exon9:c.T976A:p.Y326N,;ANNO=splicing:LRRC6
8	133826883	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PHF20L1:NM_032205:exon10:c.C932T:p.A311V,PHF20L1:NM_016018:exon10:c.C932T:p.A311V,;ANNO=splicing:PHF20L1
8	133894856	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TG:NM_003235:exon7:c.A888G:p.R296R,;ANNO=splicing:TG
8	133919145	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TG:NM_003235:exon17:c.C3847T:p.R1283W,;ANNO=splicing:TG
8	133925510	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TG:NM_003235:exon20:c.G4378A:p.V1460I,;ANNO=splicing:TG
8	133931769	.	C	T	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TG:NM_003235:exon21:c.C4527T:p.H1509H,;ANNO=splicing:TG
8	133980214	.	A	G	100	PASS	AC=696;STUDIES=18;MAC=696;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TG:NM_003235:exon31:c.A5862G:p.K1954K,;ANNO=splicing:TG
8	133981702	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TG(NM_003235:c.5863-1G>A)
8	134114798	.	G	A	100	PASS	AC=28;STUDIES=4;MAC=28;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLA:NM_001045557:exon1:c.C10T:p.R4W,;ANNO=splicing:SLA
8	134125846	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TG:NM_003235:exon44:c.C7753T:p.R2585W,;ANNO=splicing:TG
8	134125847	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TG:NM_003235:exon44:c.G7754A:p.R2585Q,;ANNO=splicing:TG
8	135521991	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZFAT:NM_001174157:exon14:c.C3177T:p.G1059G,ZFAT:NM_020863:exon15:c.C3363T:p.G1121G,ZFAT:NM_001167583:exon15:c.C3327T:p.G1109G,ZFAT:NM_001029939:exon16:c.C3327T:p.G1109G,;ANNO=splicing:ZFAT
8	139160764	.	A	G	100	PASS	AC=105;STUDIES=16;MAC=105;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FAM135B:NM_015912:exon14:c.T3447C:p.D1149D,;ANNO=splicing:FAM135B
8	139165458	.	C	T	100	PASS	AC=20;STUDIES=8;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FAM135B:NM_015912:exon13:c.G1260A:p.G420G,;ANNO=splicing:FAM135B
8	139626111	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL22A1:NM_152888:exon56:c.C3977T:p.P1326L,;ANNO=splicing:COL22A1
8	139635975	.	C	T	100	PASS	AC=76;STUDIES=15;MAC=76;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL22A1:NM_152888:exon52:c.G3771A:p.P1257P,;ANNO=splicing:COL22A1
8	139662020	.	T	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL22A1:NM_152888:exon46:c.A3335T:p.D1112V,;ANNO=splicing:COL22A1
8	139662021	.	C	T	100	PASS	AC=33;STUDIES=5;MAC=33;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL22A1:NM_152888:exon46:c.G3334A:p.D1112N,;ANNO=splicing:COL22A1
8	139675949	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL22A1:NM_152888:exon42:c.C3185T:p.P1062L,;ANNO=splicing:COL22A1
8	139688801	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL22A1:NM_152888:exon41:c.T3150C:p.P1050P,;ANNO=splicing:COL22A1
8	139691919	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL22A1:NM_152888:exon40:c.G3013T:p.A1005S,;ANNO=splicing:COL22A1
8	139712355	.	G	A	100	PASS	AC=578;STUDIES=20;MAC=578;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL22A1:NM_152888:exon32:c.C2592T:p.P864P,;ANNO=splicing:COL22A1
8	139791753	.	C	T	100	PASS	AC=36;STUDIES=7;MAC=36;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL22A1:NM_152888:exon14:c.G1703A:p.R568Q,;ANNO=splicing:COL22A1
8	139833379	.	G	A	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL22A1:NM_152888:exon7:c.C1245T:p.D415D,;ANNO=splicing:COL22A1
8	141370291	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TRAPPC9:NM_001160372:exon9:c.C1353T:p.G451G,TRAPPC9:NM_031466:exon9:c.C1647T:p.G549G,;ANNO=splicing:TRAPPC9
8	142446785	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FLJ43860(NM_207414:c.3399+1G>A)
8	142477498	.	C	T	100	PASS	AC=91;STUDIES=5;MAC=91;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FLJ43860(NM_207414:c.2322+1G>A)
8	142477649	.	C	G	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FLJ43860(NM_207414:c.2172-1G>C)
8	142500218	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FLJ43860:NM_207414:exon5:c.C696T:p.S232S,;ANNO=splicing:FLJ43860
8	142505038	.	T	C	100	PASS	AC=11508;STUDIES=12;MAC=2974;MAF=0.205;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FLJ43860(NM_207414:c.408-1A>G)
8	142505439	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FLJ43860:NM_207414:exon3:c.A407T:p.E136V,;ANNO=splicing:FLJ43860
8	143560847	.	C	T	100	PASS	AC=66;STUDIES=11;MAC=66;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BAI1:NM_001702:exon7:c.C1725T:p.P575P,;ANNO=splicing:BAI1
8	143823221	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLURP1:NM_020427:exon2:c.G178A:p.E60K,;ANNO=splicing:SLURP1
8	143832587	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LYPD2:NM_205545:exon2:c.G60A:p.A20A,;ANNO=splicing:LYPD2
8	143922641	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:GML:NM_002066:exon3:c.C181T:p.R61C,;ANNO=splicing:GML
8	143922642	.	G	A	100	PASS	AC=100;STUDIES=7;MAC=100;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GML(NM_002066:c.181+1G>A)
8	143956570	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CYP11B1:NM_000497:exon8:c.A1201G:p.T401A,;ANNO=splicing:CYP11B1
8	143957129	.	G	T	100	PASS	AC=346;STUDIES=18;MAC=346;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:CYP11B1:NM_001026213:exon6:c.C1120A:p.R374R,CYP11B1:NM_000497:exon6:c.C1120A:p.R374R,;ANNO=splicing:CYP11B1
8	143994702	.	G	T	100	PASS	AC=7292;STUDIES=14;MAC=5392;MAF=0.425;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:CYP11B2:NM_000498:exon6:c.C1120A:p.R374R,;ANNO=splicing:CYP11B2
8	143996122	.	G	A	100	PASS	AC=30;STUDIES=3;MAC=30;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;TRIALLELIC;ANNO=synonymous:CYP11B2:NM_000498:exon4:c.C798T:p.Y266Y,;ANNO=stopgain:CYP11B2:NM_000498:exon4:c.C798A:p.Y266X,;ANNO=splicing:CYP11B2;ANNO=splicing:CYP11B2
8	143996463	.	T	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CYP11B2:NM_000498:exon3:c.A594C:p.E198D,;ANNO=splicing:CYP11B2
8	144297000	.	C	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GPIHBP1:NM_178172:exon3:c.C294T:p.T98T,;ANNO=splicing:GPIHBP1
8	144297001	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPIHBP1:NM_178172:exon3:c.G295A:p.E99K,;ANNO=splicing:GPIHBP1
8	144356971	.	C	T	100	PASS	AC=38;STUDIES=11;MAC=38;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GLI4:NM_138465:exon3:c.C222T:p.P74P,;ANNO=splicing:GLI4
8	144398295	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TOP1MT:NM_052963:exon11:c.C1332T:p.A444A,;ANNO=splicing:TOP1MT
8	144399893	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TOP1MT:NM_052963:exon10:c.G1330A:p.A444T,;ANNO=splicing:TOP1MT
8	144399894	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TOP1MT:NM_052963:exon10:c.C1329T:p.R443R,;ANNO=splicing:TOP1MT
8	144458822	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RHPN1:NM_052924:exon3:c.A304C:p.S102R,;ANNO=splicing:RHPN1
8	144590069	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZC3H3:NM_015117:exon4:c.C1562T:p.A521V,;ANNO=splicing:ZC3H3
8	144643541	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:GSDMD:NM_001166237:exon9:c.C684A:p.D228E,GSDMD:NM_024736:exon6:c.C684A:p.D228E,;ANNO=synonymous:GSDMD:NM_001166237:exon9:c.C684T:p.D228D,GSDMD:NM_024736:exon6:c.C684T:p.D228D,;ANNO=splicing:GSDMD;ANNO=splicing:GSDMD
8	144650059	.	C	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C8orf73(NM_001100878:c.1764-1G>C)
8	144659232	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NAPRT1:NM_145201:exon5:c.G684A:p.P228P,;ANNO=splicing:NAPRT1
8	144662182	.	G	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:EEF1D:NM_001130057:exon7:c.C807T:p.H269H,EEF1D:NM_032378:exon9:c.C1905T:p.H635H,EEF1D:NM_001130056:exon6:c.C735T:p.H245H,EEF1D:NM_001130053:exon9:c.C1905T:p.H635H,EEF1D:NM_001195203:exon7:c.C750T:p.H250H,EEF1D:NM_001130055:exon8:c.C807T:p.H269H,EEF1D:NM_001960:exon7:c.C807T:p.H269H,;ANNO=splicing:EEF1D
8	144668389	.	T	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:EEF1D:NM_001130057:exon3:c.A189C:p.G63G,EEF1D:NM_032378:exon5:c.A1287C:p.G429G,EEF1D:NM_001130053:exon5:c.A1287C:p.G429G,EEF1D:NM_001195203:exon3:c.A189C:p.G63G,EEF1D:NM_001130055:exon4:c.A189C:p.G63G,EEF1D:NM_001960:exon3:c.A189C:p.G63G,;ANNO=splicing:EEF1D
8	144800217	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MAPK15:NM_139021:exon3:c.A166C:p.R56R,;ANNO=splicing:MAPK15
8	144801164	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MAPK15:NM_139021:exon6:c.C419T:p.P140L,;ANNO=splicing:MAPK15
8	144802456	.	C	T	100	PASS	AC=20;STUDIES=8;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MAPK15:NM_139021:exon8:c.C778T:p.R260W,;ANNO=splicing:MAPK15
8	144803580	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MAPK15:NM_139021:exon11:c.C1203T:p.H401H,;ANNO=splicing:MAPK15
8	144803920	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MAPK15(NM_139021:c.1329-2A>G)
8	144804051	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MAPK15(NM_139021:c.1458+1G>A)
8	144812307	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM83H:NM_198488:exon2:c.A446G:p.Q149R,;ANNO=splicing:FAM83H
8	144886217	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SCRIB:NM_015356:exon22:c.A3119C:p.K1040T,SCRIB:NM_182706:exon22:c.A3119C:p.K1040T,;ANNO=splicing:SCRIB
8	144889183	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SCRIB:NM_015356:exon17:c.C2179A:p.L727M,SCRIB:NM_182706:exon17:c.C2179A:p.L727M,;ANNO=splicing:SCRIB
8	144892774	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SCRIB:NM_015356:exon13:c.G1405A:p.G469S,SCRIB:NM_182706:exon13:c.G1405A:p.G469S,;ANNO=splicing:SCRIB
8	144893077	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SCRIB:NM_015356:exon11:c.C1272T:p.L424L,SCRIB:NM_182706:exon11:c.C1272T:p.L424L,;ANNO=splicing:SCRIB
8	144893317	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SCRIB:NM_015356:exon10:c.C1105T:p.R369C,SCRIB:NM_182706:exon10:c.C1105T:p.R369C,;ANNO=splicing:SCRIB
8	144896066	.	T	G	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCRIB:NM_015356:exon3:c.A278C:p.D93A,SCRIB:NM_182706:exon3:c.A278C:p.D93A,;ANNO=splicing:SCRIB
8	144920853	.	C	T	100	PASS	AC=9;STUDIES=8;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NRBP2:NM_178564:exon10:c.G839A:p.R280Q,;ANNO=splicing:NRBP2
8	145004104	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLEC:NM_201383:exon22:c.G2751A:p.T917T,PLEC:NM_201380:exon22:c.G3150A:p.T1050T,PLEC:NM_201384:exon22:c.G2739A:p.T913T,PLEC:NM_201381:exon22:c.G2643A:p.T881T,PLEC:NM_201378:exon22:c.G2697A:p.T899T,PLEC:NM_000445:exon23:c.G2820A:p.T940T,PLEC:NM_201379:exon22:c.G2673A:p.T891T,PLEC:NM_201382:exon22:c.G2739A:p.T913T,;ANNO=splicing:PLEC
8	145008167	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLEC:NM_201383:exon12:c.C1274T:p.S425L,PLEC:NM_201380:exon12:c.C1673T:p.S558L,PLEC:NM_201384:exon12:c.C1262T:p.S421L,PLEC:NM_201381:exon12:c.C1166T:p.S389L,PLEC:NM_201378:exon12:c.C1220T:p.S407L,PLEC:NM_000445:exon13:c.C1343T:p.S448L,PLEC:NM_201379:exon12:c.C1196T:p.S399L,PLEC:NM_201382:exon12:c.C1262T:p.S421L,;ANNO=splicing:PLEC
8	145018817	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PLEC:NM_201381:exon1:c.C15T:p.P5P,;ANNO=splicing:PLEC
8	145058713	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PARP10:NM_032789:exon5:c.G1457T:p.R486L,;ANNO=splicing:PARP10
8	145108296	.	G	A	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OPLAH:NM_017570:exon20:c.C2687T:p.A896V,;ANNO=splicing:OPLAH
8	145140784	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GPAA1(NM_003801:c.1622-1G>A)
8	145140785	.	G	A	100	PASS	AC=40;STUDIES=4;MAC=40;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GPAA1:NM_003801:exon12:c.G1623A:p.R541R,;ANNO=splicing:GPAA1
8	145151488	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CYC1:NM_001916:exon5:c.C613T:p.H205Y,;ANNO=splicing:CYC1
8	145541207	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DGAT1:NM_012079:exon12:c.G981A:p.A327A,;ANNO=splicing:DGAT1
8	145545073	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DGAT1(NM_012079:c.200-2A>G)
8	145618184	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ADCK5:NM_174922:exon15:c.G1638A:p.R546R,;ANNO=splicing:ADCK5
8	145626956	.	C	G	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CPSF1:NM_013291:exon4:c.G174C:p.E58D,;ANNO=splicing:CPSF1
8	145634556	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CPSF1
8	145640359	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC39A4:NM_130849:exon4:c.C803T:p.T268M,SLC39A4:NM_017767:exon3:c.C728T:p.T243M,;ANNO=splicing:SLC39A4
8	145640612	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC39A4:NM_130849:exon3:c.C666T:p.A222A,SLC39A4:NM_017767:exon2:c.C591T:p.A197A,;ANNO=splicing:SLC39A4
8	145641195	.	G	A	100	PASS	AC=70;STUDIES=5;MAC=70;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC39A4:NM_130849:exon2:c.C473T:p.T158M,SLC39A4:NM_017767:exon1:c.C398T:p.T133M,;ANNO=splicing:SLC39A4
8	145661042	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TONSL:NM_013432:exon17:c.T2774G:p.L925W,;ANNO=splicing:TONSL
8	145662065	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TONSL(NM_013432:c.1890-1G>C)
8	145732114	.	G	C	100	PASS	AC=77;STUDIES=9;MAC=77;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPT:NM_005309:exon10:c.G1288C:p.E430Q,;ANNO=splicing:GPT
8	145732225	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPT:NM_005309:exon10:c.C1399T:p.R467W,;ANNO=splicing:GPT
8	145736177	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MFSD3:NM_138431:exon4:c.G956T:p.G319V,;ANNO=splicing:MFSD3
8	145737295	.	C	T	100	PASS	AC=33;STUDIES=5;MAC=33;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RECQL4:NM_004260:exon19:c.G3393A:p.Q1131Q,;ANNO=splicing:RECQL4
8	145742799	.	T	C	100	PASS	AC=33;STUDIES=6;MAC=33;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RECQL4:NM_004260:exon3:c.A212G:p.E71G,;ANNO=splicing:RECQL4
8	146015154	.	T	A	100	PASS	AC=71;STUDIES=2;MAC=71;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:RPL8
9	154795	.	T	C	100	PASS	AC=10908;STUDIES=15;MAC=3356;MAF=0.235;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=2;ANNO=synonymous:CBWD1:NM_001145355:exon9:c.A468G:p.R156R,CBWD1:NM_018491:exon8:c.A576G:p.R192R,CBWD1:NM_001145356:exon8:c.A576G:p.R192R,;ANNO=splicing:CBWD1
9	215028	.	A	G	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DOCK8:NM_203447:exon1:c.A52G:p.R18G,;ANNO=splicing:DOCK8
9	271729	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DOCK8:NM_203447:exon2:c.A156G:p.L52L,;ANNO=splicing:DOCK8
9	731265	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KANK1:NM_153186:exon4:c.G2530C:p.G844R,KANK1:NM_015158:exon5:c.G3004C:p.G1002R,;ANNO=splicing:KANK1
9	732617	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KANK1:NM_153186:exon5:c.G2771A:p.R924K,KANK1:NM_015158:exon6:c.G3245A:p.R1082K,;ANNO=splicing:KANK1
9	742206	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KANK1:NM_153186:exon9:c.C3224T:p.A1075V,KANK1:NM_015158:exon10:c.C3698T:p.A1233V,;ANNO=splicing:KANK1
9	744588	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KANK1:NM_153186:exon10:c.C3521T:p.P1174L,KANK1:NM_015158:exon11:c.C3995T:p.P1332L,;ANNO=splicing:KANK1
9	2056846	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SMARCA2(NM_003070:c.1347+1G>A,NM_139045:c.1347+1G>A)
9	2191407	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SMARCA2:NM_139045:exon32:c.G4682A:p.R1561H,SMARCA2:NM_003070:exon33:c.G4736A:p.R1579H,;ANNO=splicing:SMARCA2
9	2719094	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KCNV2:NM_133497:exon1:c.C1355T:p.A452V,;ANNO=splicing:KCNV2
9	2827074	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA0020:NM_014878:exon10:c.C1034T:p.S345L,;ANNO=splicing:KIAA0020
9	3829492	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GLIS3:NM_152629:exon9:c.G2009C:p.G670A,GLIS3:NM_001042413:exon10:c.G2474C:p.G825A,;ANNO=splicing:GLIS3
9	3937028	.	G	A	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GLIS3:NM_152629:exon4:c.C1407T:p.T469T,GLIS3:NM_001042413:exon5:c.C1872T:p.T624T,;ANNO=splicing:GLIS3
9	4117769	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GLIS3:NM_152629:exon3:c.C1244T:p.T415M,GLIS3:NM_001042413:exon4:c.C1709T:p.T570M,;ANNO=splicing:GLIS3
9	4622408	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C9orf68:NM_001039395:exon6:c.G598A:p.A200T,;ANNO=splicing:C9orf68
9	4718417	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AK3(NM_016282:c.563+2T>C,NM_001199853:c.353+2T>C,NM_001199852:c.443+2T>C,NM_001199856:c.353+2T>C,NM_001199855:c.353+2T>C,NM_001199854:c.563+2T>C)
9	4833154	.	G	A	100	PASS	AC=351;STUDIES=19;MAC=351;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RCL1:NM_005772:exon4:c.G385A:p.V129I,;ANNO=splicing:RCL1
9	5164266	.	C	T	100	PASS	AC=18;STUDIES=6;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:INSL6(NM_007179:c.289-1G>A)
9	5304371	.	T	C	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:RLN2:NM_134441:exon1:c.A210G:p.A70A,RLN2:NM_005059:exon1:c.A210G:p.A70A,;ANNO=splicing:RLN2
9	5361758	.	C	G	100	PASS	AC=20;STUDIES=4;MAC=20;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C9orf46:NM_018465:exon4:c.G212C:p.G71A,;ANNO=splicing:C9orf46
9	5522533	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PDCD1LG2
9	5797816	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ERMP1(NM_024896:c.2386+1G>T)
9	5892552	.	G	C	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MLANA(NM_005511:c.77+1G>C)
9	6007196	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA2026:NM_001017969:exon1:c.C592T:p.R198W,;ANNO=splicing:KIAA2026
9	6250600	.	G	T	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IL33(NM_033439:c.217+1G>T,NM_001199640:c.217+1G>T)
9	6255967	.	G	C	100	PASS	AC=49;STUDIES=10;MAC=49;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IL33(NM_033439:c.612-1G>C,NM_001199641:c.234-1G>C,NM_001199640:c.486-1G>C)
9	6554781	.	C	A	100	PASS	AC=154;STUDIES=19;MAC=154;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:GLDC:NM_000170:exon19:c.G2203T:p.V735L,;ANNO=splicing:GLDC
9	7046917	.	A	G	100	PASS	AC=1302;STUDIES=22;MAC=1302;MAF=0.054;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KDM4C:NM_001146696:exon16:c.A2381G:p.K794R,KDM4C:NM_015061:exon16:c.A2315G:p.K772R,KDM4C:NM_001146694:exon16:c.A2315G:p.K772R,KDM4C:NM_001146695:exon16:c.A2315G:p.K772R,;ANNO=splicing:KDM4C
9	8319965	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PTPRD:NM_001040712:exon29:c.G4306A:p.A1436T,PTPRD:NM_130391:exon30:c.G4315A:p.A1439T,PTPRD:NM_130392:exon30:c.G4318A:p.A1440T,PTPRD:NM_002839:exon45:c.G5536A:p.A1846T,PTPRD:NM_130393:exon28:c.G4288A:p.A1430T,PTPRD:NM_001171025:exon28:c.G4315A:p.A1439T,;ANNO=splicing:PTPRD
9	8341267	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PTPRD:NM_001040712:exon25:c.G3719A:p.R1240H,PTPRD:NM_130391:exon26:c.G3728A:p.R1243H,PTPRD:NM_130392:exon26:c.G3731A:p.R1244H,PTPRD:NM_002839:exon41:c.G4949A:p.R1650H,PTPRD:NM_130393:exon24:c.G3701A:p.R1234H,PTPRD:NM_001171025:exon24:c.G3728A:p.R1243H,;ANNO=splicing:PTPRD
9	12702272	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TYRP1:NM_000550:exon5:c.C915G:p.S305R,;ANNO=splicing:TYRP1
9	12704706	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TYRP1(NM_000550:c.1261+1G>A)
9	12707998	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TYRP1:NM_000550:exon7:c.T1263C:p.D421D,;ANNO=splicing:TYRP1
9	13112024	.	C	T	100	PASS	AC=808;STUDIES=20;MAC=808;MAF=0.036;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MPDZ:NM_003829:exon41:c.G5636A:p.R1879K,;ANNO=splicing:MPDZ
9	13119648	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MPDZ:NM_003829:exon38:c.A5232G:p.R1744R,;ANNO=splicing:MPDZ
9	13223709	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MPDZ:NM_003829:exon4:c.G394A:p.G132S,;ANNO=splicing:MPDZ
9	13247799	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MPDZ:NM_003829:exon2:c.C18G:p.D6E,;ANNO=splicing:MPDZ
9	14746468	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FREM1(NM_144966:c.6138-2A>G,NM_001177704:c.1746-2A>G)
9	14770803	.	A	G	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FREM1:NM_144966:exon27:c.T4859C:p.V1620A,FREM1:NM_001177704:exon3:c.T467C:p.V156A,;ANNO=splicing:FREM1
9	14819439	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FREM1:NM_144966:exon15:c.C2339T:p.A780V,;ANNO=splicing:FREM1
9	14842658	.	C	G	100	PASS	AC=212;STUDIES=20;MAC=212;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FREM1:NM_144966:exon10:c.G1394C:p.G465A,;ANNO=splicing:FREM1
9	15578847	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C9orf93:NM_173550:exon4:c.C178T:p.L60L,;ANNO=splicing:C9orf93
9	15777823	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C9orf93:NM_173550:exon19:c.C2897T:p.T966M,;ANNO=splicing:C9orf93
9	15784692	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C9orf93:NM_173550:exon21:c.G3267C:p.K1089N,;ANNO=splicing:C9orf93
9	15784694	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9orf93(NM_173550:c.3267+2T>A)
9	17273731	.	A	G	100	PASS	AC=5696;STUDIES=21;MAC=5696;MAF=0.261;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:CNTLN:NM_017738:exon6:c.A850G:p.T284A,CNTLN:NM_001114395:exon6:c.A850G:p.T284A,;ANNO=splicing:CNTLN
9	17464622	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CNTLN(NM_017738:c.3531+1G>A)
9	17484293	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CNTLN:NM_017738:exon24:c.G3856C:p.A1286P,;ANNO=splicing:CNTLN
9	17795543	.	T	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SH3GL2:NM_003026:exon9:c.T861A:p.G287G,;ANNO=splicing:SH3GL2
9	18504954	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADAMTSL1:NM_052866:exon2:c.A191G:p.K64R,ADAMTSL1:NM_001040272:exon2:c.A191G:p.K64R,;ANNO=splicing:ADAMTSL1
9	18635941	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAMTSL1:NM_052866:exon6:c.C602T:p.S201L,ADAMTSL1:NM_001040272:exon6:c.C602T:p.S201L,;ANNO=splicing:ADAMTSL1
9	18753505	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADAMTSL1:NM_001040272:exon16:c.C2216T:p.P739L,;ANNO=splicing:ADAMTSL1
9	18906690	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ADAMTSL1:NM_001040272:exon28:c.G4962A:p.R1654R,;ANNO=splicing:ADAMTSL1
9	19087154	.	T	C	100	PASS	AC=3079;STUDIES=22;MAC=3079;MAF=0.127;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:HAUS6:NM_017645:exon6:c.A585G:p.Q195Q,;ANNO=splicing:HAUS6
9	19121164	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLIN2(NM_001122:c.309-1G>T)
9	19126307	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLIN2:NM_001122:exon3:c.A31G:p.S11G,;ANNO=splicing:PLIN2
9	19376255	.	A	C	100	PASS	AC=588;STUDIES=8;MAC=588;MAF=0.098;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;SNP_ON_RIGHT;HWE_FAILURES=1;ANNO=splicing:RPS6
9	19424838	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACER2:NM_001010887:exon3:c.C364T:p.R122W,;ANNO=splicing:ACER2
9	19576923	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC24A2:NM_020344:exon6:c.G1227A:p.V409V,SLC24A2:NM_001193288:exon5:c.G1176A:p.V392V,;ANNO=splicing:SLC24A2
9	20363474	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MLLT3:NM_004529:exon7:c.G1331A:p.R444K,;ANNO=splicing:MLLT3
9	20770031	.	G	A	100	PASS	AC=135;STUDIES=9;MAC=135;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1797:NM_017794:exon10:c.G700A:p.V234I,;ANNO=splicing:KIAA1797
9	20885231	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA1797(NM_017794:c.2625+2T>C)
9	20981684	.	G	A	100	PASS	AC=38;STUDIES=8;MAC=38;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1797:NM_017794:exon40:c.G4637A:p.R1546Q,;ANNO=splicing:KIAA1797
9	20986463	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIAA1797:NM_017794:exon42:c.G4905A:p.T1635T,;ANNO=splicing:KIAA1797
9	20995555	.	C	T	100	PASS	AC=46;STUDIES=13;MAC=46;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1797:NM_017794:exon46:c.C5333T:p.A1778V,;ANNO=splicing:KIAA1797
9	21016009	.	G	A	100	PASS	AC=114;STUDIES=18;MAC=114;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTPLAD2:NM_001010915:exon4:c.C271T:p.L91F,;ANNO=splicing:PTPLAD2
9	26956371	.	A	G	100	PASS	AC=49;STUDIES=2;MAC=49;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:IFT74
9	27284972	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9orf11(NM_001161585:c.548-2A>G,NM_020641:c.635-2A>G)
9	27294315	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C9orf11:NM_001161585:exon3:c.C288T:p.N96N,C9orf11:NM_020641:exon3:c.C288T:p.N96N,;ANNO=splicing:C9orf11
9	27296610	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9orf11(NM_001161585:c.202+1G>A,NM_020641:c.202+1G>A)
9	32440462	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACO1(NM_002197:c.2247-1G>A)
9	32481339	.	C	T	100	PASS	AC=266;STUDIES=20;MAC=266;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DDX58:NM_014314:exon11:c.G1637A:p.R546Q,;ANNO=splicing:DDX58
9	32485278	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:DDX58(NM_014314:c.1375-1G>A)
9	32987842	.	T	C	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:APTX(NM_001195252:c.226-2A>G,NM_001195251:c.184-2A>G,NM_001195249:c.184-2A>G,NM_001195248:c.226-2A>G,NM_175073:c.184-2A>G,NM_175069:c.226-2A>G)
9	33001564	.	C	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:APTX(NM_001195252:c.38+1G>T,NM_001195250:c.38+1G>T,NM_001195248:c.38+1G>T,NM_175069:c.38+1G>T)
9	33318728	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NFX1(NM_002504:c.1588-1G>A,NM_147134:c.1588-1G>A,NM_147133:c.1588-1G>A)
9	33318729	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NFX1:NM_147134:exon8:c.T1589C:p.V530A,NFX1:NM_002504:exon8:c.T1589C:p.V530A,NFX1:NM_147133:exon8:c.T1589C:p.V530A,;ANNO=splicing:NFX1
9	33385287	.	T	C	100	PASS	AC=212;STUDIES=2;MAC=212;MAF=0.128;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=5;ANNO=nonsynonymous:AQP7:NM_001170:exon8:c.A745G:p.N249D,;ANNO=splicing:AQP7
9	33385863	.	G	T	100	PASS	AC=200;STUDIES=4;MAC=200;MAF=0.075;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=16;ANNO=nonsynonymous:AQP7:NM_001170:exon7:c.C527A:p.A176E,;ANNO=splicing:AQP7
9	33386193	.	G	A	100	PASS	AC=95;STUDIES=4;MAC=95;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:AQP7:NM_001170:exon6:c.C407T:p.T136M,;ANNO=splicing:AQP7
9	33466306	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NOL6:NM_022917:exon17:c.G2209A:p.V737M,;ANNO=splicing:NOL6
9	33468419	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NOL6:NM_022917:exon10:c.C1208T:p.P403L,NOL6:NM_139235:exon10:c.C1208T:p.P403L,;ANNO=splicing:NOL6
9	33796799	.	A	T	100	PASS	AC=77;STUDIES=5;MAC=77;MAF=0.042;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=3;ANNO=nonsynonymous:PRSS3:NM_002771:exon2:c.A199T:p.T67S,PRSS3:NM_007343:exon2:c.A370T:p.T124S,PRSS3:NM_001197098:exon2:c.A178T:p.T60S,PRSS3:NM_001197097:exon3:c.A241T:p.T81S,;ANNO=splicing:PRSS3
9	33796800	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PRSS3:NM_002771:exon2:c.C200T:p.T67I,PRSS3:NM_007343:exon2:c.C371T:p.T124I,PRSS3:NM_001197098:exon2:c.C179T:p.T60I,PRSS3:NM_001197097:exon3:c.C242T:p.T81I,;ANNO=splicing:PRSS3
9	33796801	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:PRSS3(NM_001197097:c.242+1G>A,NM_007343:c.371+1G>A,NM_001197098:c.179+1G>A,NM_002771:c.200+1G>A)
9	33797828	.	C	T	100	PASS	AC=76;STUDIES=10;MAC=76;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:PRSS3:NM_002771:exon3:c.C202T:p.R68C,PRSS3:NM_007343:exon3:c.C373T:p.R125C,PRSS3:NM_001197098:exon3:c.C181T:p.R61C,PRSS3:NM_001197097:exon4:c.C244T:p.R82C,;ANNO=splicing:PRSS3
9	33798079	.	T	C	100	PASS	AC=150;STUDIES=3;MAC=150;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:PRSS3:NM_002771:exon3:c.T453C:p.G151G,PRSS3:NM_007343:exon3:c.T624C:p.G208G,PRSS3:NM_001197098:exon3:c.T432C:p.G144G,PRSS3:NM_001197097:exon4:c.T495C:p.G165G,;ANNO=splicing:PRSS3
9	33798485	.	T	C	100	PASS	AC=36;STUDIES=2;MAC=36;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:PRSS3:NM_002771:exon4:c.T456C:p.A152A,PRSS3:NM_007343:exon4:c.T627C:p.A209A,PRSS3:NM_001197098:exon4:c.T435C:p.A145A,PRSS3:NM_001197097:exon5:c.T498C:p.A166A,;ANNO=splicing:PRSS3
9	33799026	.	C	G	100	PASS	AC=568;STUDIES=6;MAC=568;MAF=0.054;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:PRSS3:NM_002771:exon5:c.C592G:p.R198G,PRSS3:NM_007343:exon5:c.C763G:p.R255G,PRSS3:NM_001197098:exon5:c.C571G:p.R191G,PRSS3:NM_001197097:exon6:c.C634G:p.R212G,;ANNO=splicing:PRSS3
9	33799027	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:PRSS3:NM_002771:exon5:c.G593A:p.R198H,PRSS3:NM_007343:exon5:c.G764A:p.R255H,PRSS3:NM_001197098:exon5:c.G572A:p.R191H,PRSS3:NM_001197097:exon6:c.G635A:p.R212H,;ANNO=splicing:PRSS3
9	34242106	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UBAP1:NM_001171204:exon5:c.G1083A:p.T361T,UBAP1:NM_001171202:exon3:c.G1191A:p.T397T,UBAP1:NM_001171203:exon5:c.G1083A:p.T361T,UBAP1:NM_016525:exon4:c.G1083A:p.T361T,UBAP1:NM_001171201:exon3:c.G1275A:p.T425T,;ANNO=splicing:UBAP1
9	34257979	.	C	T	100	PASS	AC=299;STUDIES=18;MAC=299;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIF24:NM_194313:exon11:c.G1626A:p.R542R,;ANNO=splicing:KIF24
9	34306251	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIF24:NM_194313:exon3:c.A812G:p.Q271R,;ANNO=splicing:KIF24
9	34381366	.	C	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9orf24(NM_032596:c.472+1G>T,NM_147169:c.67+1G>T,NM_147168:c.67+1G>T)
9	34459050	.	A	G	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAI1:NM_012144:exon1:c.A47G:p.Q16R,;ANNO=splicing:DNAI1
9	34485237	.	C	T	100	PASS	AC=325;STUDIES=14;MAC=325;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAI1:NM_012144:exon3:c.C179T:p.A60V,;ANNO=splicing:DNAI1
9	34485238	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:DNAI1:NM_012144:exon3:c.G180A:p.A60A,;ANNO=splicing:DNAI1
9	34490009	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNAI1(NM_012144:c.388-1G>C)
9	34622525	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARID3C:NM_001017363:exon5:c.G867A:p.E289E,;ANNO=splicing:ARID3C
9	34637416	.	C	T	100	PASS	AC=220;STUDIES=6;MAC=220;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SIGMAR1:NM_147157:exon2:c.G153A:p.G51G,SIGMAR1:NM_005866:exon2:c.G153A:p.G51G,;ANNO=splicing:SIGMAR1
9	34648167	.	A	G	100	PASS	AC=37;STUDIES=13;MAC=37;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GALT:NM_000155:exon6:c.A563G:p.Q188R,;ANNO=splicing:GALT
9	34662075	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCL27:NM_006664:exon3:c.C205T:p.L69F,;ANNO=splicing:CCL27
9	35074490	.	A	G	100	PASS	AC=24;STUDIES=4;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FANCG:NM_004629:exon13:c.T1638C:p.G546G,;ANNO=splicing:FANCG
9	35075275	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FANCG(NM_004629:c.1480+1G>C)
9	35396599	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UNC13B:NM_006377:exon26:c.C3188T:p.A1063V,;ANNO=splicing:UNC13B
9	35548531	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RUSC2:NM_014806:exon2:c.C2013T:p.D671D,RUSC2:NM_001135999:exon2:c.C2013T:p.D671D,;ANNO=splicing:RUSC2
9	35611802	.	T	C	100	PASS	AC=18;STUDIES=6;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CD72:NM_001782:exon7:c.A949G:p.R317G,;ANNO=splicing:CD72
9	35650497	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SIT1(NM_014450:c.236+2T>G)
9	35650500	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SIT1:NM_014450:exon2:c.C235T:p.R79C,;ANNO=splicing:SIT1
9	35660643	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCDC107:NM_001195217:exon4:c.C409T:p.R137W,CCDC107:NM_174923:exon4:c.C409T:p.R137C,CCDC107:NM_001195201:exon4:c.C409T:p.R137C,CCDC107:NM_001195200:exon4:c.C409T:p.R137C,;ANNO=splicing:CCDC107
9	35662508	.	C	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9orf100(NM_032818:c.903+1G>T)
9	35663319	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C9orf100:NM_032818:exon5:c.C544T:p.R182W,;ANNO=splicing:C9orf100
9	35665029	.	C	T	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C9orf100:NM_032818:exon1:c.G138A:p.T46T,;ANNO=splicing:C9orf100
9	35712003	.	G	A	100	PASS	AC=5493;STUDIES=21;MAC=5493;MAF=0.243;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:TLN1:NM_006289:exon28:c.C3680T:p.S1227L,;ANNO=splicing:TLN1
9	35738371	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GBA2:NM_020944:exon14:c.T2055C:p.S685S,;ANNO=splicing:GBA2
9	35753657	.	G	A	100	PASS	AC=104;STUDIES=11;MAC=104;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MSMP:NM_001044264:exon2:c.C239T:p.T80M,;ANNO=splicing:MSMP
9	35753765	.	G	A	100	PASS	AC=22;STUDIES=11;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MSMP:NM_001044264:exon2:c.C131T:p.A44V,;ANNO=splicing:MSMP
9	35807327	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NPR2:NM_003995:exon18:c.G2644A:p.V882I,;ANNO=splicing:NPR2
9	35810245	.	G	A	100	PASS	AC=236;STUDIES=18;MAC=236;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPAG8:NM_172312:exon6:c.C1262T:p.P421L,SPAG8:NM_001039592:exon6:c.C1262T:p.P421L,;ANNO=splicing:SPAG8
9	35825369	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C9orf128:NM_001012446:exon3:c.T600C:p.G200G,;ANNO=splicing:C9orf128
9	36052261	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RECK(NM_021111:c.100-1G>C)
9	36108160	.	A	T	100	PASS	AC=16;STUDIES=8;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RECK:NM_021111:exon14:c.A1764T:p.K588N,;ANNO=splicing:RECK
9	36148648	.	G	A	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GLIPR2(NM_022343:c.226+1G>A)
9	37302186	.	A	G	100	PASS	AC=40;STUDIES=12;MAC=40;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZCCHC7:NM_032226:exon3:c.A612G:p.G204G,;ANNO=splicing:ZCCHC7
9	37304309	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZCCHC7:NM_032226:exon4:c.G779A:p.R260Q,;ANNO=splicing:ZCCHC7
9	37349450	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZCCHC7(NM_032226:c.1083+1G>A)
9	37425990	.	C	T	100	PASS	AC=20;STUDIES=7;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GRHPR:NM_012203:exon3:c.C286T:p.R96C,;ANNO=splicing:GRHPR
9	37426535	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GRHPR:NM_012203:exon4:c.T288C:p.R96R,;ANNO=splicing:GRHPR
9	37430644	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GRHPR(NM_012203:c.734+1G>A)
9	37436656	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GRHPR(NM_012203:c.865-2A>G)
9	37495274	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:POLR1E(NM_022490:c.655+1G>A)
9	37692739	.	G	A	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FRMPD1:NM_014907:exon2:c.G101A:p.R34Q,;ANNO=splicing:FRMPD1
9	37737094	.	T	C	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FRMPD1:NM_014907:exon14:c.T1403C:p.V468A,;ANNO=splicing:FRMPD1
9	39103742	.	A	C	100	PASS	AC=32;STUDIES=8;MAC=32;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:CNTNAP3:NM_033655:exon16:c.T2535G:p.R845R,;ANNO=splicing:CNTNAP3
9	39287976	.	C	T	100	PASS	AC=572;STUDIES=3;MAC=572;MAF=0.204;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;HWE_FAILURES=3;ANNO=splicing:CNTNAP3(NM_033655:c.85+1G>A)
9	40775035	.	C	T	100	PASS	AC=37;STUDIES=2;MAC=37;MAF=0.137;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:ZNF658:NM_033160:exon5:c.G240A:p.G80G,;ANNO=splicing:ZNF658
9	69247582	.	G	C	100	PASS	AC=119;STUDIES=2;MAC=119;MAF=0.182;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;HWE_FAILURES=1;ANNO=splicing:CBWD6(NM_001085457:c.430-1C>G)
9	70999315	.	T	C	100	PASS	AC=6867;STUDIES=21;MAC=6867;MAF=0.310;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:PGM5:NM_021965:exon3:c.T426C:p.G142G,;ANNO=splicing:PGM5
9	71002380	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:PGM5:NM_021965:exon4:c.G573A:p.V191V,;ANNO=splicing:PGM5
9	71820148	.	G	A	100	PASS	AC=415;STUDIES=6;MAC=415;MAF=0.069;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TJP2:NM_001170415:exon1:c.G71A:p.R24H,TJP2:NM_001170416:exon1:c.G71A:p.R24H,;ANNO=splicing:TJP2
9	71853627	.	A	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TJP2:NM_201629:exon16:c.A2277C:p.K759N,TJP2:NM_001170414:exon17:c.A2208C:p.K736N,TJP2:NM_001170415:exon16:c.A2289C:p.K763N,TJP2:NM_004817:exon16:c.A2277C:p.K759N,TJP2:NM_001170416:exon16:c.A2370C:p.K790N,TJP2:NM_001170630:exon16:c.A2277C:p.K759N,;ANNO=splicing:TJP2
9	71867729	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TJP2(NM_001170414:c.2811-2A>C,NM_201629:c.2880-2A>C,NM_004817:c.3321-2A>C,NM_001170415:c.3222-2A>C,NM_001170416:c.3414-2A>C)
9	71867731	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TJP2:NM_201629:exon20:c.A2881G:p.I961V,TJP2:NM_001170414:exon21:c.A2812G:p.I938V,TJP2:NM_001170415:exon21:c.A3223G:p.I1075V,TJP2:NM_004817:exon22:c.A3322G:p.I1108V,TJP2:NM_001170416:exon22:c.A3415G:p.I1139V,;ANNO=splicing:TJP2
9	72333599	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PTAR1:NM_001099666:exon7:c.C949T:p.R317W,;ANNO=splicing:PTAR1
9	72472824	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9orf135(NM_001010940:c.380-1G>A)
9	72783618	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MAMDC2:NM_153267:exon10:c.G1405A:p.V469M,;ANNO=splicing:MAMDC2
9	72833511	.	A	G	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MAMDC2:NM_153267:exon12:c.A1910G:p.Q637R,;ANNO=splicing:MAMDC2
9	74332864	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TMEM2:NM_013390:exon13:c.C2399T:p.A800V,TMEM2:NM_001135820:exon12:c.C2210T:p.A737V,;ANNO=splicing:TMEM2
9	74477523	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:FAM108B1:NM_016014:exon5:c.G856T:p.V286L,;ANNO=nonsynonymous:FAM108B1:NM_016014:exon5:c.G856A:p.V286M,;ANNO=splicing:FAM108B1;ANNO=splicing:FAM108B1
9	74477523	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:FAM108B1:NM_016014:exon5:c.G856T:p.V286L,;ANNO=nonsynonymous:FAM108B1:NM_016014:exon5:c.G856A:p.V286M,;ANNO=splicing:FAM108B1;ANNO=splicing:FAM108B1
9	74975136	.	T	C	100	PASS	AC=22920;STUDIES=20;MAC=668;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:ZFAND5:NM_001102421:exon3:c.A153G:p.G51G,ZFAND5:NM_006007:exon3:c.A153G:p.G51G,ZFAND5:NM_001102420:exon4:c.A153G:p.G51G,;ANNO=splicing:ZFAND5
9	75773610	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANXA1(NM_000700:c.66-1G>A)
9	77390991	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRPM6:NM_001177310:exon24:c.A3196G:p.N1066D,TRPM6:NM_001177311:exon24:c.A3196G:p.N1066D,TRPM6:NM_017662:exon24:c.A3211G:p.N1071D,;ANNO=splicing:TRPM6
9	77397769	.	T	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRPM6:NM_001177310:exon22:c.A2905G:p.T969A,TRPM6:NM_001177311:exon22:c.A2905G:p.T969A,TRPM6:NM_017662:exon22:c.A2920G:p.T974A,;ANNO=splicing:TRPM6
9	77400791	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRPM6:NM_001177310:exon21:c.T2903C:p.M968T,TRPM6:NM_001177311:exon21:c.T2903C:p.M968T,TRPM6:NM_017662:exon21:c.T2918C:p.M973T,;ANNO=splicing:TRPM6
9	77418802	.	G	A	100	PASS	AC=394;STUDIES=13;MAC=394;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRPM6:NM_001177310:exon15:c.C1624T:p.H542Y,TRPM6:NM_001177311:exon15:c.C1624T:p.H542Y,TRPM6:NM_017662:exon15:c.C1639T:p.H547Y,;ANNO=splicing:TRPM6
9	77435221	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRPM6:NM_001177310:exon9:c.G1118T:p.C373F,TRPM6:NM_001177311:exon9:c.G1118T:p.C373F,TRPM6:NM_017662:exon9:c.G1133T:p.C378F,;ANNO=splicing:TRPM6
9	77692495	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C9orf95:NM_017881:exon3:c.G31A:p.V11M,C9orf95:NM_001127603:exon3:c.G31A:p.V11M,;ANNO=splicing:C9orf95
9	78638797	.	C	T	100	PASS	AC=307;STUDIES=21;MAC=307;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PCSK5:NM_001190482:exon4:c.C555T:p.Y185Y,PCSK5:NM_006200:exon4:c.C555T:p.Y185Y,;ANNO=splicing:PCSK5
9	78711018	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PCSK5:NM_001190482:exon8:c.C1107T:p.I369I,PCSK5:NM_006200:exon8:c.C1107T:p.I369I,;ANNO=splicing:PCSK5
9	79074068	.	G	T	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:GCNT1
9	79441650	.	T	C	100	PASS	AC=34;STUDIES=9;MAC=34;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRUNE2(NM_015225:c.508-2A>G)
9	79959197	.	G	A	100	PASS	AC=177;STUDIES=10;MAC=177;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:VPS13A:NM_001018037:exon50:c.G7038A:p.E2346E,VPS13A:NM_015186:exon51:c.G7155A:p.E2385E,VPS13A:NM_001018038:exon51:c.G7155A:p.E2385E,VPS13A:NM_033305:exon51:c.G7155A:p.E2385E,;ANNO=splicing:VPS13A
9	80018236	.	C	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VPS13A:NM_001018037:exon68:c.C9157T:p.R3053C,VPS13A:NM_033305:exon69:c.C9274T:p.R3092C,;ANNO=splicing:VPS13A
9	80881357	.	G	C	100	PASS	AC=28;STUDIES=7;MAC=28;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEP78(NM_032171:c.1800-1G>C,NM_001098802:c.1848-1G>C)
9	80932719	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:PSAT1:NM_058179:exon7:c.G868A:p.V290I,PSAT1:NM_021154:exon7:c.G868A:p.V290M,;ANNO=splicing:PSAT1
9	82187750	.	A	G	100	PASS	AC=18832;STUDIES=17;MAC=286;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=2;ANNO=splicing:TLE4(NM_007005:c.44+1A>G)
9	86457152	.	A	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:KIF27:NM_017576:exon17:c.T3721C:p.Y1241H,;ANNO=splicing:KIF27
9	86907582	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC28A3(NM_001199633:c.1023+1G>A,NM_022127:c.1023+1G>A)
9	88201746	.	C	G	100	PASS	AC=15;STUDIES=3;MAC=15;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AGTPBP1:NM_015239:exon22:c.G2913C:p.L971F,;ANNO=splicing:AGTPBP1
9	88574781	.	T	G	100	PASS	AC=29;STUDIES=12;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NAA35:NM_024635:exon5:c.T347G:p.L116W,;ANNO=splicing:NAA35
9	88661486	.	G	A	100	PASS	AC=59;STUDIES=6;MAC=59;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GOLM1:NM_177937:exon5:c.C366T:p.D122D,GOLM1:NM_016548:exon5:c.C366T:p.D122D,;ANNO=splicing:GOLM1
9	88692506	.	T	C	100	PASS	AC=8;STUDIES=7;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GOLM1:NM_177937:exon3:c.A130G:p.T44A,GOLM1:NM_016548:exon3:c.A130G:p.T44A,;ANNO=splicing:GOLM1
9	88842771	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C9orf153:NM_001010907:exon3:c.A241G:p.S81G,;ANNO=splicing:C9orf153
9	88937241	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZCCHC6:NM_024617:exon14:c.T3027C:p.Y1009Y,ZCCHC6:NM_001185059:exon14:c.T3027C:p.Y1009Y,;ANNO=splicing:ZCCHC6
9	90252858	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DAPK1:NM_004938:exon4:c.C285T:p.L95L,;ANNO=splicing:DAPK1
9	90313571	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DAPK1:NM_004938:exon23:c.C2612T:p.A871V,;ANNO=splicing:DAPK1
9	90315151	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DAPK1:NM_004938:exon24:c.C2870T:p.S957L,;ANNO=splicing:DAPK1
9	90343723	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CTSL1:NM_145918:exon5:c.C620T:p.T207I,CTSL1:NM_001912:exon5:c.C620T:p.T207I,;ANNO=splicing:CTSL1
9	90584110	.	T	C	100	PASS	AC=53;STUDIES=5;MAC=53;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CDK20:NM_001170640:exon5:c.A655G:p.R219G,CDK20:NM_001039803:exon7:c.A842G:p.K281R,CDK20:NM_012119:exon6:c.A779G:p.K260R,CDK20:NM_001170639:exon6:c.A779G:p.K260R,CDK20:NM_178432:exon6:c.A818G:p.K273R,;ANNO=splicing:CDK20
9	90584710	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDK20(NM_012119:c.624+1G>A,NM_001170639:c.624+1G>A,NM_178432:c.663+1G>A,NM_001039803:c.687+1G>A)
9	90586063	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CDK20:NM_001170640:exon3:c.G377A:p.R126Q,CDK20:NM_001039803:exon3:c.G377A:p.R126Q,CDK20:NM_012119:exon3:c.G377A:p.R126Q,CDK20:NM_001170639:exon3:c.G377A:p.R126Q,CDK20:NM_178432:exon3:c.G416A:p.R139Q,;ANNO=splicing:CDK20
9	91083288	.	G	A	100	PASS	AC=346;STUDIES=18;MAC=346;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SPIN1:NM_006717:exon5:c.G357A:p.A119A,;ANNO=splicing:SPIN1
9	91930085	.	G	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:CKS2:NM_001827:exon2:c.G60C:p.R20R,;ANNO=splicing:CKS2
9	91947901	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SECISBP2:NM_024077:exon6:c.G880A:p.E294K,;ANNO=splicing:SECISBP2
9	91995971	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SEMA4D:NM_001142287:exon17:c.G1662A:p.P554P,SEMA4D:NM_006378:exon17:c.G1662A:p.P554P,;ANNO=splicing:SEMA4D
9	94843245	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SPTLC1:NM_006415:exon4:c.C261T:p.G87G,SPTLC1:NM_178324:exon4:c.C261T:p.G87G,;ANNO=splicing:SPTLC1
9	94984803	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IARS:NM_013417:exon33:c.G3705A:p.Q1235Q,IARS:NM_002161:exon33:c.G3705A:p.Q1235Q,;ANNO=splicing:IARS
9	95003243	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IARS:NM_013417:exon30:c.T3178C:p.L1060L,IARS:NM_002161:exon30:c.T3178C:p.L1060L,;ANNO=splicing:IARS
9	95019082	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IARS:NM_013417:exon20:c.G2017C:p.E673Q,IARS:NM_002161:exon20:c.G2017C:p.E673Q,;ANNO=splicing:IARS
9	95163372	.	A	G	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:OGN(NM_033014:c.268+2T>C,NM_014057:c.268+2T>C)
9	95263009	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ECM2:NM_001393:exon9:c.G1931A:p.R644Q,ECM2:NM_001197296:exon9:c.G1865A:p.R622H,ECM2:NM_001197295:exon9:c.G1865A:p.R622Q,;ANNO=splicing:ECM2
9	95263010	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ECM2:NM_001393:exon9:c.C1930T:p.R644W,ECM2:NM_001197296:exon9:c.C1864T:p.R622C,ECM2:NM_001197295:exon9:c.C1864T:p.R622W,;ANNO=splicing:ECM2
9	95279970	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ECM2:NM_001393:exon3:c.T480C:p.T160T,ECM2:NM_001197296:exon3:c.T480C:p.T160T,ECM2:NM_001197295:exon3:c.T480C:p.T160T,;ANNO=splicing:ECM2
9	95378339	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IPPK:NM_022755:exon13:c.C1251T:p.S417S,;ANNO=splicing:IPPK
9	95477535	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BICD2:NM_015250:exon7:c.C2469T:p.S823S,BICD2:NM_001003800:exon7:c.C2469T:p.S823S,;ANNO=splicing:BICD2
9	95772666	.	A	C	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FGD3:NM_001083536:exon7:c.A976C:p.R326R,FGD3:NM_033086:exon7:c.A976C:p.R326R,;ANNO=splicing:FGD3
9	95780497	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FGD3:NM_001083536:exon11:c.G1355A:p.R452Q,FGD3:NM_033086:exon11:c.G1355A:p.R452Q,;ANNO=splicing:FGD3
9	95784671	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FGD3:NM_001083536:exon14:c.G1557T:p.G519G,FGD3:NM_033086:exon14:c.G1557T:p.G519G,;ANNO=splicing:FGD3
9	95792277	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FGD3:NM_001083536:exon15:c.C1679T:p.A560V,FGD3:NM_033086:exon15:c.C1679T:p.A560V,;ANNO=splicing:FGD3
9	95838255	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SUSD3(NM_145006:c.277+1G>A)
9	95873003	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:C9orf89:NM_032310:exon3:c.C304T:p.Q102X,;ANNO=splicing:C9orf89
9	95873004	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9orf89(NM_032310:c.304+1G>A)
9	95874220	.	G	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:C9orf89:NM_032310:exon4:c.G364T:p.G122X,;ANNO=splicing:C9orf89
9	95993170	.	A	G	100	PASS	AC=2821;STUDIES=18;MAC=2821;MAF=0.149;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:WNK2:NM_006648:exon3:c.A855G:p.T285T,;ANNO=splicing:WNK2
9	96015165	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:WNK2:NM_006648:exon8:c.C1835T:p.S612L,;ANNO=splicing:WNK2
9	97522864	.	T	G	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9orf3(NM_032823:c.797+2T>G,NM_001193331:c.797+2T>G,NM_001193329:c.797+2T>G)
9	97767823	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9orf3(NM_032823:c.1743-1G>A,NM_001193329:c.2040-1G>A)
9	97873918	.	A	G	100	PASS	AC=31;STUDIES=4;MAC=31;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FANCC:NM_000136:exon13:c.T1156C:p.S386P,;ANNO=splicing:FANCC
9	97879672	.	G	C	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.073;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FANCC:NM_000136:exon11:c.C997G:p.L333V,;ANNO=splicing:FANCC
9	99015193	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HSD17B3(NM_000197:c.277-1G>C)
9	99017151	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HSD17B3:NM_000197:exon3:c.C276T:p.I92I,;ANNO=splicing:HSD17B3
9	99086450	.	A	G	100	PASS	AC=20;STUDIES=10;MAC=20;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC35D2:NM_007001:exon10:c.T754C:p.F252L,;ANNO=splicing:SLC35D2
9	99212909	.	G	C	100	PASS	AC=587;STUDIES=9;MAC=587;MAF=0.151;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=6;ANNO=synonymous:HABP4:NM_014282:exon1:c.G348C:p.P116P,;ANNO=splicing:HABP4
9	99408308	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9orf21(NM_153698:c.421-2A>G)
9	99525494	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZNF510:NM_014930:exon5:c.G258T:p.G86G,;ANNO=splicing:ZNF510
9	99537071	.	T	C	100	PASS	AC=524;STUDIES=20;MAC=524;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:ZNF510:NM_014930:exon3:c.A128G:p.Q43R,;ANNO=splicing:ZNF510
9	100133877	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C9orf174:NM_020893:exon34:c.G4621C:p.E1541Q,;ANNO=splicing:C9orf174
9	100204156	.	C	T	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TDRD7:NM_014290:exon6:c.C854T:p.T285M,;ANNO=splicing:TDRD7
9	100325015	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TMOD1:NM_001166116:exon5:c.G399A:p.A133A,TMOD1:NM_003275:exon5:c.G399A:p.A133A,;ANNO=splicing:TMOD1
9	100325102	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TMOD1:NM_001166116:exon5:c.C486T:p.N162N,TMOD1:NM_003275:exon5:c.C486T:p.N162N,;ANNO=splicing:TMOD1
9	100326321	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TMOD1:NM_001166116:exon6:c.C489T:p.S163S,TMOD1:NM_003275:exon6:c.C489T:p.S163S,;ANNO=splicing:TMOD1
9	100367147	.	C	A	100	PASS	AC=21;STUDIES=12;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:TSTD2:NM_139246:exon9:c.G1114T:p.G372X,;ANNO=splicing:TSTD2
9	100372734	.	C	T	100	PASS	AC=19;STUDIES=2;MAC=19;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=1;ANNO=splicing:TSTD2(NM_139246:c.729-1G>A)
9	100854283	.	C	T	100	PASS	AC=44;STUDIES=14;MAC=44;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRIM14:NM_014788:exon5:c.G701A:p.S234N,TRIM14:NM_033219:exon5:c.G701A:p.S234N,TRIM14:NM_033220:exon5:c.G701A:p.S234N,;ANNO=splicing:TRIM14
9	100962536	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TBC1D2:NM_018421:exon12:c.C2545T:p.R849W,;ANNO=splicing:TBC1D2
9	100991430	.	C	A	100	PASS	AC=4073;STUDIES=22;MAC=4073;MAF=0.168;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TBC1D2:NM_018421:exon5:c.G782T:p.G261V,;ANNO=splicing:TBC1D2
9	100995833	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TBC1D2(NM_018421:c.647-2A>G)
9	101147922	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GABBR2:NM_005458:exon11:c.C1662T:p.T554T,;ANNO=splicing:GABBR2
9	101544749	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ANKS6:NM_173551:exon5:c.G1219A:p.D407N,;ANNO=splicing:ANKS6
9	101759216	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL15A1:NM_001855:exon6:c.C805A:p.P269T,;ANNO=splicing:COL15A1
9	101782725	.	G	T	100	PASS	AC=17;STUDIES=8;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL15A1(NM_001855:c.1701+1G>T)
9	101787280	.	C	A	100	PASS	AC=47;STUDIES=9;MAC=47;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:COL15A1:NM_001855:exon15:c.C1979A:p.P660Q,;ANNO=nonsynonymous:COL15A1:NM_001855:exon15:c.C1979T:p.P660L,;ANNO=splicing:COL15A1;ANNO=splicing:COL15A1
9	101787280	.	C	T	100	PASS	AC=24;STUDIES=5;MAC=24;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:COL15A1:NM_001855:exon15:c.C1979A:p.P660Q,;ANNO=nonsynonymous:COL15A1:NM_001855:exon15:c.C1979T:p.P660L,;ANNO=splicing:COL15A1;ANNO=splicing:COL15A1
9	101814714	.	C	T	100	PASS	AC=50;STUDIES=16;MAC=50;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:COL15A1:NM_001855:exon31:c.C2949A:p.H983Q,;ANNO=synonymous:COL15A1:NM_001855:exon31:c.C2949T:p.H983H,;ANNO=splicing:COL15A1;ANNO=splicing:COL15A1
9	101816858	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:COL15A1:NM_001855:exon32:c.G2951A:p.G984D,;ANNO=nonsynonymous:COL15A1:NM_001855:exon32:c.G2951C:p.G984A,;ANNO=splicing:COL15A1;ANNO=splicing:COL15A1
9	101816859	.	T	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL15A1:NM_001855:exon32:c.T2952C:p.G984G,;ANNO=splicing:COL15A1
9	101818543	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL15A1:NM_001855:exon35:c.G3194A:p.G1065D,;ANNO=splicing:COL15A1
9	101824528	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL15A1:NM_001855:exon38:c.T3533C:p.L1178P,;ANNO=splicing:COL15A1
9	101824586	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL15A1:NM_001855:exon38:c.C3591T:p.N1197N,;ANNO=splicing:COL15A1
9	103055324	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:INVS:NM_183245:exon15:c.A2275G:p.S759G,INVS:NM_014425:exon14:c.A2785G:p.S929G,;ANNO=splicing:INVS
9	103340834	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MURC(NM_001018116:c.408+1G>T)
9	105779244	.	G	A	100	PASS	AC=1658;STUDIES=3;MAC=416;MAF=0.201;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CYLC2(NM_001340:c.1937+1G>A)
9	106862483	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SMC2:NM_006444:exon6:c.C590T:p.T197M,SMC2:NM_001042550:exon6:c.C590T:p.T197M,SMC2:NM_001042551:exon6:c.C590T:p.T197M,;ANNO=splicing:SMC2
9	107332410	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:OR13C8:NM_001004483:exon1:c.G962A:p.X321X,;ANNO=splicing:OR13C8
9	107535190	.	G	A	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:NIPSNAP3B(NM_018376:c.667+1G>A)
9	107593382	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABCA1:NM_005502:exon14:c.G1716A:p.G572G,;ANNO=splicing:ABCA1
9	107599376	.	A	G	100	PASS	AC=86;STUDIES=16;MAC=86;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCA1:NM_005502:exon11:c.T1196C:p.V399A,;ANNO=splicing:ABCA1
9	108363426	.	C	T	100	PASS	AC=546;STUDIES=20;MAC=546;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FKTN:NM_001079802:exon5:c.C166T:p.R56C,FKTN:NM_001198963:exon5:c.C166T:p.R56C,FKTN:NM_006731:exon4:c.C166T:p.R56C,;ANNO=splicing:FKTN
9	108363427	.	G	A	100	PASS	AC=19;STUDIES=5;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:FKTN:NM_001079802:exon5:c.G167A:p.R56H,FKTN:NM_001198963:exon5:c.G167A:p.R56H,FKTN:NM_006731:exon4:c.G167A:p.R56H,;ANNO=splicing:FKTN
9	108536147	.	T	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM38B:NM_018112:exon6:c.T662C:p.I221T,;ANNO=splicing:TMEM38B
9	111637174	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IKBKAP(NM_003640:c.3931+1G>T)
9	111640276	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IKBKAP:NM_003640:exon35:c.C3854T:p.P1285L,;ANNO=splicing:IKBKAP
9	111697968	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:C9orf6:NM_017832:exon2:c.C130T:p.R44X,;ANNO=splicing:C9orf6
9	112153419	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PTPN3:NM_002829:exon21:c.A2105G:p.N702S,PTPN3:NM_001145369:exon16:c.A1712G:p.N571S,PTPN3:NM_001145371:exon11:c.A1244G:p.N415S,PTPN3:NM_001145372:exon10:c.A1109G:p.N370S,PTPN3:NM_001145370:exon15:c.A1577G:p.N526S,PTPN3:NM_001145368:exon20:c.A1970G:p.N657S,;ANNO=splicing:PTPN3
9	112207572	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PTPN3:NM_002829:exon7:c.G414A:p.R138R,PTPN3:NM_001145369:exon2:c.G21A:p.R7R,PTPN3:NM_001145370:exon2:c.G21A:p.R7R,PTPN3:NM_001145368:exon7:c.G414A:p.R138R,;ANNO=splicing:PTPN3
9	112219494	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTPN3:NM_002829:exon4:c.G248A:p.R83K,PTPN3:NM_001145368:exon4:c.G248A:p.R83K,;ANNO=splicing:PTPN3
9	112961847	.	T	C	100	PASS	AC=469;STUDIES=2;MAC=469;MAF=0.238;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:C9orf152
9	113091512	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TXNDC8:NM_001003936:exon3:c.G189A:p.P63P,;ANNO=splicing:TXNDC8
9	113091513	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TXNDC8:NM_001003936:exon3:c.C188T:p.P63L,;ANNO=splicing:TXNDC8
9	113100053	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TXNDC8:NM_001003936:exon1:c.G24A:p.T8T,;ANNO=splicing:TXNDC8
9	113166832	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SVEP1:NM_153366:exon39:c.A9441T:p.R3147S,;ANNO=splicing:SVEP1
9	113431265	.	T	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MUSK(NM_005592:c.79+2T>G,NM_001166280:c.79+2T>G,NM_001166281:c.79+2T>G)
9	113457810	.	G	C	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MUSK:NM_001166280:exon4:c.G486C:p.R162S,MUSK:NM_001166281:exon4:c.G486C:p.R162S,MUSK:NM_005592:exon4:c.G486C:p.R162S,;ANNO=splicing:MUSK
9	114135595	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KIAA0368:NM_001080398:exon41:c.G4803T:p.R1601R,;ANNO=splicing:KIAA0368
9	114174295	.	T	C	100	PASS	AC=19;STUDIES=9;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA0368:NM_001080398:exon22:c.A2747G:p.H916R,;ANNO=splicing:KIAA0368
9	114247025	.	T	C	100	PASS	AC=28;STUDIES=4;MAC=28;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA0368:NM_001080398:exon1:c.A1G:p.M1V,;ANNO=splicing:KIAA0368
9	114332369	.	A	G	100	PASS	AC=29;STUDIES=12;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:PTGR1(NM_001146109:c.879+2T>C,NM_001146108:c.879+2T>C,NM_012212:c.879+2T>C)
9	114456228	.	C	T	100	PASS	AC=16;STUDIES=8;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C9orf84:NM_173521:exon24:c.G3124A:p.E1042K,C9orf84:NM_001080551:exon22:c.G3007A:p.E1003K,;ANNO=splicing:C9orf84
9	114500560	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C9orf84:NM_173521:exon10:c.T1225C:p.S409P,C9orf84:NM_001080551:exon8:c.T1108C:p.S370P,;ANNO=splicing:C9orf84
9	114520363	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9orf84(NM_173521:c.516+1G>T,NM_001080551:c.399+1G>T)
9	115216441	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HSDL2:NM_032303:exon9:c.C1014T:p.S338S,HSDL2:NM_001195822:exon7:c.C795T:p.S265S,;ANNO=splicing:HSDL2
9	115649609	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC46A2(NM_033051:c.1213+1G>A)
9	115962242	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FKBP15:NM_015258:exon7:c.T500C:p.V167A,;ANNO=splicing:FKBP15
9	116080917	.	A	G	100	PASS	AC=80;STUDIES=6;MAC=80;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:WDR31:NM_001012361:exon10:c.T781C:p.L261L,WDR31:NM_145241:exon10:c.T778C:p.L260L,;ANNO=splicing:WDR31
9	116152053	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ALAD:NM_000031:exon8:c.G626A:p.R209Q,;ANNO=splicing:ALAD
9	116185777	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:C9orf43:NM_152786:exon7:c.G655T:p.E219X,;ANNO=splicing:C9orf43
9	116191244	.	G	A	100	PASS	AC=726;STUDIES=9;MAC=726;MAF=0.064;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9orf43(NM_152786:c.1171+1G>A)
9	116222526	.	C	T	100	PASS	AC=183;STUDIES=2;MAC=183;MAF=0.133;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:RGS3
9	116267802	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RGS3:NM_144488:exon12:c.C978T:p.S326S,RGS3:NM_017790:exon9:c.C642T:p.S214S,RGS3:NM_130795:exon2:c.C135T:p.S45S,;ANNO=splicing:RGS3
9	116285321	.	G	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RGS3:NM_144488:exon18:c.G1870C:p.G624R,RGS3:NM_017790:exon15:c.G1534C:p.G512R,RGS3:NM_130795:exon8:c.G1027C:p.G343R,;ANNO=splicing:RGS3
9	116359048	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RGS3:NM_144488:exon26:c.G3412A:p.V1138I,RGS3:NM_021106:exon8:c.G1375A:p.V459I,RGS3:NM_134427:exon5:c.G322A:p.V108I,RGS3:NM_130795:exon16:c.G2569A:p.V857I,RGS3:NM_144489:exon5:c.G751A:p.V251I,;ANNO=splicing:RGS3
9	116823377	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AMBP:NM_001633:exon9:c.G855A:p.A285A,;ANNO=splicing:AMBP
9	116831979	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AMBP:NM_001633:exon6:c.G603A:p.P201P,;ANNO=splicing:AMBP
9	116835205	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AMBP:NM_001633:exon5:c.G556C:p.G186R,;ANNO=splicing:AMBP
9	116836317	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AMBP:NM_001633:exon4:c.C453T:p.Y151Y,;ANNO=splicing:AMBP
9	116855776	.	G	A	100	PASS	AC=116;STUDIES=6;MAC=116;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIF12:NM_138424:exon12:c.C988T:p.R330C,;ANNO=splicing:KIF12
9	116857304	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIF12:NM_138424:exon8:c.A704G:p.K235R,;ANNO=splicing:KIF12
9	116997878	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL27A1(NM_032888:c.2565-1G>C)
9	117027755	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL27A1:NM_032888:exon32:c.G3393A:p.P1131P,;ANNO=splicing:COL27A1
9	117044843	.	C	T	100	PASS	AC=203;STUDIES=14;MAC=203;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL27A1:NM_032888:exon39:c.C3878T:p.T1293M,;ANNO=splicing:COL27A1
9	117050790	.	G	A	100	PASS	AC=464;STUDIES=11;MAC=464;MAF=0.035;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL27A1:NM_032888:exon42:c.G4043A:p.R1348Q,;ANNO=splicing:COL27A1
9	117054489	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL27A1:NM_032888:exon49:c.C4583T:p.P1528L,;ANNO=splicing:COL27A1
9	117063405	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:COL27A1:NM_032888:exon52:c.G4755A:p.P1585P,;ANNO=splicing:COL27A1
9	117085526	.	G	A	100	PASS	AC=3894;STUDIES=7;MAC=2968;MAF=0.433;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=3;ANNO=nonsynonymous:ORM1:NM_000607:exon1:c.G113A:p.R38Q,;ANNO=splicing:ORM1
9	117086367	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:ORM1:NM_000607:exon3:c.C327T:p.Y109Y,;ANNO=splicing:ORM1
9	117092297	.	G	A	100	PASS	AC=46;STUDIES=5;MAC=46;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:ORM2:NM_000608:exon1:c.G113A:p.R38Q,;ANNO=splicing:ORM2
9	117093142	.	G	A	100	PASS	AC=26;STUDIES=4;MAC=26;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:ORM2:NM_000608:exon3:c.G328A:p.E110K,;ANNO=splicing:ORM2
9	117105989	.	C	T	100	PASS	AC=14;STUDIES=8;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AKNA:NM_030767:exon19:c.G3756A:p.A1252A,;ANNO=splicing:AKNA
9	117108289	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AKNA:NM_030767:exon18:c.G3515A:p.S1172N,;ANNO=splicing:AKNA
9	117110180	.	G	A	100	PASS	AC=389;STUDIES=14;MAC=389;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AKNA:NM_030767:exon16:c.C3222T:p.D1074D,;ANNO=splicing:AKNA
9	117143341	.	T	A	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AKNA:NM_030767:exon2:c.A273T:p.E91D,;ANNO=splicing:AKNA
9	117166177	.	G	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DFNB31:NM_015404:exon10:c.C2417T:p.P806L,DFNB31:NM_001083885:exon10:c.C1268T:p.P423L,DFNB31:NM_001173425:exon10:c.C2414T:p.P805L,;ANNO=splicing:DFNB31
9	117390529	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C9orf91:NM_153045:exon5:c.A473G:p.K158R,;ANNO=splicing:C9orf91
9	117786253	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TNC:NM_002160:exon27:c.A6494G:p.Q2165R,;ANNO=splicing:TNC
9	117792684	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TNC:NM_002160:exon24:c.T5921C:p.I1974T,;ANNO=splicing:TNC
9	117800658	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TNC:NM_002160:exon20:c.T5394C:p.A1798A,;ANNO=splicing:TNC
9	118138995	.	G	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DEC1(NM_017418:c.13+1G>T)
9	119093635	.	G	A	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PAPPA:NM_002581:exon11:c.G3260A:p.R1087Q,;ANNO=splicing:PAPPA
9	119188134	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ASTN2:NM_198186:exon8:c.G1319A:p.R440Q,ASTN2:NM_198187:exon8:c.G1172A:p.R391Q,ASTN2:NM_014010:exon22:c.G3863A:p.R1288Q,;ANNO=splicing:ASTN2
9	123156790	.	A	G	100	PASS	AC=96;STUDIES=4;MAC=96;MAF=0.032;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CDK5RAP2:NM_018249:exon36:c.T5578C:p.L1860L,CDK5RAP2:NM_001011649:exon35:c.T5341C:p.L1781L,;ANNO=splicing:CDK5RAP2
9	123540630	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FBXW2:NM_012164:exon4:c.G684A:p.A228A,;ANNO=splicing:FBXW2
9	123583117	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PSMD5:NM_005047:exon9:c.G1257A:p.T419T,;ANNO=splicing:PSMD5
9	123594111	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PSMD5:NM_005047:exon3:c.C431T:p.A144V,;ANNO=splicing:PSMD5
9	123808469	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C5:NM_001735:exon2:c.A258G:p.T86T,;ANNO=splicing:C5
9	123812460	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C5:NM_001735:exon1:c.C65T:p.T22I,;ANNO=splicing:C5
9	123898259	.	A	G	100	PASS	AC=55;STUDIES=6;MAC=55;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CNTRL:NM_007018:exon13:c.A2201G:p.Q734R,;ANNO=splicing:CNTRL
9	123903657	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CNTRL(NM_007018:c.2483-2A>G)
9	123907522	.	T	G	100	PASS	AC=19;STUDIES=4;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CNTRL:NM_007018:exon20:c.T3169G:p.F1057V,;ANNO=splicing:CNTRL
9	123922579	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CNTRL:NM_007018:exon30:c.C5088T:p.T1696T,;ANNO=splicing:CNTRL
9	123927222	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CNTRL:NM_007018:exon33:c.G5425T:p.V1809F,;ANNO=splicing:CNTRL
9	123935786	.	T	C	100	PASS	AC=15;STUDIES=7;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CNTRL:NM_007018:exon39:c.T6683C:p.M2228T,;ANNO=splicing:CNTRL
9	125042876	.	A	G	100	PASS	AC=27;STUDIES=8;MAC=27;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:MRRF:NM_138777:exon3:c.A339G:p.P113P,MRRF:NM_199177:exon2:c.A339G:p.P113P,;ANNO=splicing:MRRF
9	125054026	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MRRF(NM_001173512:c.303-2A>G,NM_138777:c.459-2A>G,NM_199177:c.459-2A>G)
9	125140294	.	C	T	100	PASS	AC=29;STUDIES=6;MAC=29;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTGS1:NM_000962:exon3:c.C211T:p.P71S,PTGS1:NM_080591:exon3:c.C211T:p.P71S,;ANNO=splicing:PTGS1
9	125330756	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OR1L8:NM_001004454:exon1:c.A1G:p.M1V,;ANNO=splicing:OR1L8
9	125486270	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OR1L4:NM_001005235:exon1:c.T2C:p.M1T,;ANNO=splicing:OR1L4
9	125620949	.	C	T	100	PASS	AC=16;STUDIES=3;MAC=16;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RC3H2:NM_018835:exon12:c.G2282A:p.R761K,RC3H2:NM_001100588:exon12:c.G2282A:p.R761K,;ANNO=splicing:RC3H2
9	125782737	.	A	G	100	PASS	AC=56;STUDIES=3;MAC=56;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RABGAP1:NM_012197:exon13:c.A1793G:p.K598R,;ANNO=splicing:RABGAP1
9	125852664	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RABGAP1:NM_012197:exon21:c.C2628T:p.N876N,;ANNO=splicing:RABGAP1
9	127216378	.	T	C	100	PASS	AC=40;STUDIES=3;MAC=40;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GPR144(NM_001161808:c.1078+2T>C)
9	127218899	.	A	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GPR144(NM_001161808:c.1449-2A>C)
9	127220392	.	G	C	100	PASS	AC=280;STUDIES=7;MAC=280;MAF=0.036;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPR144:NM_001161808:exon9:c.G1562C:p.G521A,;ANNO=splicing:GPR144
9	127220515	.	G	A	100	PASS	AC=47;STUDIES=5;MAC=47;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPR144:NM_001161808:exon9:c.G1685A:p.R562K,;ANNO=splicing:GPR144
9	127262993	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NR5A1:NM_004959:exon4:c.C246T:p.A82A,;ANNO=splicing:NR5A1
9	127289179	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:NR6A1:NM_033334:exon8:c.A1080G:p.R360R,NR6A1:NM_001489:exon8:c.A1065G:p.R355R,;ANNO=nonsynonymous:NR6A1:NM_033334:exon8:c.A1080C:p.R360S,NR6A1:NM_001489:exon8:c.A1065C:p.R355S,;ANNO=splicing:NR6A1;ANNO=splicing:NR6A1
9	127639695	.	C	T	100	PASS	AC=178;STUDIES=2;MAC=178;MAF=0.106;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:ARPC5L
9	127661756	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GOLGA1:NM_002077:exon14:c.C1163T:p.A388V,;ANNO=splicing:GOLGA1
9	127662731	.	G	C	100	PASS	AC=23;STUDIES=4;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GOLGA1:NM_002077:exon13:c.C1161G:p.L387L,;ANNO=splicing:GOLGA1
9	127683519	.	T	C	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GOLGA1:NM_002077:exon10:c.A732G:p.R244R,;ANNO=splicing:GOLGA1
9	128723127	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PBX3:NM_006195:exon6:c.C1008T:p.S336S,PBX3:NM_001134778:exon6:c.C783T:p.S261S,;ANNO=splicing:PBX3
9	129377850	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:LMX1B(NM_002316:c.326+2T>C,NM_001174146:c.326+2T>C,NM_001174147:c.326+2T>C)
9	129728123	.	G	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RALGPS1:NM_014636:exon3:c.G58T:p.G20C,RALGPS1:NM_001190729:exon3:c.G58T:p.G20C,RALGPS1:NM_001190730:exon3:c.G58T:p.G20C,RALGPS1:NM_001190728:exon2:c.G58T:p.G20C,;ANNO=splicing:RALGPS1
9	129928484	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RALGPS1:NM_014636:exon9:c.T747C:p.Y249Y,RALGPS1:NM_001190729:exon9:c.T747C:p.Y249Y,RALGPS1:NM_001190730:exon9:c.T747C:p.Y249Y,RALGPS1:NM_001190728:exon8:c.T747C:p.Y249Y,;ANNO=splicing:RALGPS1
9	129974998	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RALGPS1:NM_014636:exon16:c.C1446T:p.H482H,RALGPS1:NM_001190729:exon15:c.C1320T:p.H440H,RALGPS1:NM_001190728:exon14:c.C1320T:p.H440H,;ANNO=splicing:RALGPS1
9	130116688	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GARNL3:NM_032293:exon19:c.A1758C:p.K586N,;ANNO=splicing:GARNL3
9	130167270	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC2A8:NM_014580:exon8:c.G1150A:p.G384S,;ANNO=splicing:SLC2A8
9	130210156	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:RPL12:NM_000976:exon6:c.C492T:p.A164A,;ANNO=splicing:RPL12
9	130257600	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LRSAM1:NM_001005373:exon22:c.C1601T:p.T534M,LRSAM1:NM_001005374:exon21:c.C1601T:p.T534M,LRSAM1:NM_138361:exon21:c.C1601T:p.T534M,LRSAM1:NM_001190723:exon21:c.C1520T:p.T507M,;ANNO=splicing:LRSAM1
9	130444685	.	C	T	100	PASS	AC=25;STUDIES=13;MAC=25;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:STXBP1:NM_003165:exon18:c.C1548T:p.S516S,STXBP1:NM_001032221:exon18:c.C1548T:p.S516S,;ANNO=splicing:STXBP1
9	130472880	.	G	C	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C9orf117:NM_001012502:exon3:c.G434C:p.G145A,;ANNO=splicing:C9orf117
9	130474100	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C9orf117:NM_001012502:exon5:c.T857A:p.I286N,;ANNO=splicing:C9orf117
9	130489743	.	A	G	100	PASS	AC=7907;STUDIES=16;MAC=7907;MAF=0.427;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=5;ANNO=nonsynonymous:TTC16:NM_144965:exon12:c.A1763G:p.E588G,;ANNO=splicing:TTC16
9	130494842	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TOR2A(NM_001085347:c.721+1G>A)
9	130570983	.	T	C	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FPGS:NM_004957:exon10:c.T969C:p.H323H,FPGS:NM_001018078:exon10:c.T819C:p.H273H,;ANNO=splicing:FPGS
9	130605374	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ENG:NM_001114753:exon2:c.C218T:p.T73M,ENG:NM_000118:exon2:c.C218T:p.T73M,;ANNO=splicing:ENG
9	130605523	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ENG:NM_001114753:exon2:c.T69C:p.S23S,ENG:NM_000118:exon2:c.T69C:p.S23S,;ANNO=splicing:ENG
9	130707928	.	C	T	100	PASS	AC=17;STUDIES=7;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM102A:NM_001035254:exon7:c.G721A:p.G241S,FAM102A:NM_203305:exon4:c.G295A:p.G99S,;ANNO=splicing:FAM102A
9	130707929	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=synonymous:FAM102A:NM_001035254:exon7:c.C720T:p.S240S,FAM102A:NM_203305:exon4:c.C294T:p.S98S,;ANNO=synonymous:FAM102A:NM_001035254:exon7:c.C720A:p.S240S,FAM102A:NM_203305:exon4:c.C294A:p.S98S,;ANNO=splicing:FAM102A;ANNO=splicing:FAM102A
9	130707929	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:FAM102A:NM_001035254:exon7:c.C720T:p.S240S,FAM102A:NM_203305:exon4:c.C294T:p.S98S,;ANNO=synonymous:FAM102A:NM_001035254:exon7:c.C720A:p.S240S,FAM102A:NM_203305:exon4:c.C294A:p.S98S,;ANNO=splicing:FAM102A;ANNO=splicing:FAM102A
9	130860837	.	G	T	100	PASS	AC=68;STUDIES=9;MAC=68;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:SLC25A25
9	130884757	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:PTGES2:NM_025072:exon6:c.C889T:p.H297Y,;ANNO=splicing:PTGES2
9	130913998	.	T	C	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LCN2(NM_005564:c.355+2T>C)
9	130914303	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LCN2:NM_005564:exon4:c.C474T:p.Y158Y,;ANNO=splicing:LCN2
9	130914562	.	C	G	100	PASS	AC=16;STUDIES=8;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LCN2:NM_005564:exon5:c.C576G:p.I192M,;ANNO=splicing:LCN2
9	131150175	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:URM1:NM_001135947:exon3:c.G187A:p.V63M,URM1:NM_030914:exon3:c.G187A:p.V63M,;ANNO=splicing:URM1
9	131235320	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:ODF2:NM_153439:exon6:c.C785T:p.T262M,ODF2:NM_153440:exon6:c.C653T:p.T218M,ODF2:NM_002540:exon9:c.C638T:p.T213M,ODF2:NM_001242352:exon7:c.C695T:p.T232M,ODF2:NM_153435:exon7:c.C902T:p.T301M,ODF2:NM_153433:exon7:c.C710T:p.T237M,ODF2:NM_001242354:exon6:c.C467T:p.T156M,ODF2:NM_153436:exon6:c.C710T:p.T237M,ODF2:NM_153432:exon6:c.C842T:p.T281M,ODF2:NM_001242353:exon7:c.C710T:p.T237M,ODF2:NM_153437:exon7:c.C653T:p.T218M,;ANNO=splicing:ODF2
9	131235321	.	A	G	100	PASS	AC=22732;STUDIES=19;MAC=144;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=1;ANNO=splicing:ODF2(NM_153436:c.710+1A>G,NM_153439:c.785+1A>G,NM_153432:c.842+1A>G,NM_153435:c.902+1A>G,NM_001242354:c.467+1A>G,NM_001242353:c.710+1A>G,NM_001242352:c.695+1A>G,NM_002540:c.638+1A>G,NM_153440:c.653+1A>G,NM_153433:c.710+1A>G,NM_153437:c.653+1A>G)
9	131303380	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GLE1(NM_001003722:c.2028-1G>A)
9	131360782	.	A	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPTAN1:NM_001195532:exon24:c.A3458C:p.Q1153P,SPTAN1:NM_001130438:exon25:c.A3518C:p.Q1173P,SPTAN1:NM_003127:exon25:c.A3518C:p.Q1173P,;ANNO=splicing:SPTAN1
9	131367756	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPTAN1:NM_001195532:exon30:c.G3986A:p.R1329Q,SPTAN1:NM_001130438:exon31:c.G4046A:p.R1349Q,SPTAN1:NM_003127:exon31:c.G4046A:p.R1349Q,;ANNO=splicing:SPTAN1
9	131475557	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PKN3:NM_013355:exon8:c.G983A:p.S328N,;ANNO=splicing:PKN3
9	131475665	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PKN3:NM_013355:exon8:c.G1091A:p.R364Q,;ANNO=splicing:PKN3
9	131476477	.	C	A	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PKN3:NM_013355:exon11:c.C1314A:p.G438G,;ANNO=splicing:PKN3
9	131477451	.	G	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PKN3:NM_013355:exon14:c.G1653T:p.R551S,;ANNO=splicing:PKN3
9	131587147	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C9orf114:NM_016390:exon9:c.C714G:p.D238E,;ANNO=splicing:C9orf114
9	131591138	.	C	A	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C9orf114:NM_016390:exon3:c.G84T:p.K28N,;ANNO=splicing:C9orf114
9	131684560	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PHYHD1
9	131698784	.	T	C	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PHYHD1(NM_174933:c.372+2T>C,NM_001100876:c.372+2T>C,NM_001100877:c.372+2T>C)
9	131700036	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PHYHD1:NM_001100876:exon9:c.C436A:p.Q146K,PHYHD1:NM_001100877:exon6:c.C373A:p.Q125K,;ANNO=splicing:PHYHD1
9	131741542	.	A	G	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NUP188:NM_015354:exon13:c.A1205G:p.D402G,;ANNO=splicing:NUP188
9	131749996	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NUP188:NM_015354:exon23:c.G2393A:p.S798N,;ANNO=splicing:NUP188
9	131765097	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NUP188:NM_015354:exon37:c.C4139T:p.T1380I,;ANNO=splicing:NUP188
9	131772399	.	G	A	100	PASS	AC=25;STUDIES=8;MAC=25;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SH3GLB2:NM_020145:exon8:c.C738T:p.H246H,;ANNO=splicing:SH3GLB2
9	131774516	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SH3GLB2:NM_020145:exon6:c.C623T:p.A208V,;ANNO=splicing:SH3GLB2
9	131774576	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SH3GLB2:NM_020145:exon6:c.C563T:p.T188M,;ANNO=splicing:SH3GLB2
9	131860292	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CRAT:NM_000755:exon11:c.G1464A:p.T488T,;ANNO=splicing:CRAT
9	131866467	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CRAT:NM_000755:exon3:c.G410A:p.R137Q,;ANNO=splicing:CRAT
9	132381914	.	C	T	100	PASS	AC=42;STUDIES=14;MAC=42;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C9orf50:NM_199350:exon3:c.G601A:p.G201S,;ANNO=splicing:C9orf50
9	132632122	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:USP20:NM_001008563:exon14:c.C1564T:p.R522W,USP20:NM_006676:exon14:c.C1564T:p.R522W,USP20:NM_001110303:exon14:c.C1564T:p.R522W,;ANNO=splicing:USP20
9	132632825	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:USP20:NM_001008563:exon15:c.G1659T:p.K553N,USP20:NM_006676:exon15:c.G1659T:p.K553N,USP20:NM_001110303:exon15:c.G1659T:p.K553N,;ANNO=splicing:USP20
9	132638516	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:USP20:NM_001008563:exon22:c.A2408G:p.K803R,USP20:NM_006676:exon22:c.A2408G:p.K803R,USP20:NM_001110303:exon22:c.A2408G:p.K803R,;ANNO=splicing:USP20
9	132662825	.	G	C	100	PASS	AC=201;STUDIES=11;MAC=201;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FNBP1:NM_015033:exon14:c.C1430G:p.A477G,;ANNO=splicing:FNBP1
9	132720770	.	A	G	100	PASS	AC=1836;STUDIES=21;MAC=1836;MAF=0.080;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FNBP1:NM_015033:exon5:c.T408C:p.S136S,;ANNO=splicing:FNBP1
9	132848699	.	G	C	100	PASS	AC=398;STUDIES=20;MAC=398;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPR107:NM_020960:exon7:c.G565C:p.A189P,GPR107:NM_001136557:exon7:c.G565C:p.A189P,GPR107:NM_001136558:exon7:c.G565C:p.A189P,;ANNO=splicing:GPR107
9	132854659	.	C	T	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPR107:NM_020960:exon9:c.C862T:p.R288W,GPR107:NM_001136557:exon9:c.C862T:p.R288W,GPR107:NM_001136558:exon9:c.C862T:p.R288W,;ANNO=splicing:GPR107
9	133327612	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:ASS1
9	133485339	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FUBP3(NM_003934:c.190-2A>G)
9	133506175	.	C	T	100	PASS	AC=17;STUDIES=9;MAC=17;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FUBP3:NM_003934:exon13:c.C1278T:p.G426G,;ANNO=splicing:FUBP3
9	133755543	.	C	T	100	PASS	AC=20;STUDIES=8;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABL1:NM_005157:exon9:c.C1512T:p.D504D,ABL1:NM_007313:exon9:c.C1569T:p.D523D,;ANNO=splicing:ABL1
9	133756050	.	C	T	100	PASS	AC=141;STUDIES=9;MAC=141;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABL1:NM_005157:exon10:c.C1677T:p.S559S,ABL1:NM_007313:exon10:c.C1734T:p.S578S,;ANNO=splicing:ABL1
9	133911720	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:LAMC3(NM_006059:c.976+1G>A);ANNO=splicing:LAMC3(NM_006059:c.976+1G>C)
9	133914634	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:LAMC3:NM_006059:exon6:c.A1282T:p.R428X,;ANNO=splicing:LAMC3
9	133927878	.	A	G	100	PASS	AC=10848;STUDIES=21;MAC=10848;MAF=0.481;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:LAMC3:NM_006059:exon10:c.A1631G:p.E544G,;ANNO=splicing:LAMC3
9	133928352	.	G	C	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LAMC3:NM_006059:exon11:c.G1939C:p.G647R,;ANNO=splicing:LAMC3
9	133963008	.	G	A	100	PASS	AC=4916;STUDIES=21;MAC=4916;MAF=0.220;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:LAMC3:NM_006059:exon26:c.G4376A:p.R1459Q,;ANNO=splicing:LAMC3
9	133993305	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:AIF1L:NM_031426:exon5:c.T365G:p.L122X,AIF1L:NM_001185095:exon6:c.T443G:p.L148X,;ANNO=splicing:AIF1L
9	134004864	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NUP214:NM_005085:exon4:c.G592A:p.V198M,;ANNO=splicing:NUP214
9	134385382	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:POMT1:NM_007171:exon8:c.A698G:p.N233S,POMT1:NM_001077365:exon8:c.A698G:p.N233S,POMT1:NM_001136114:exon6:c.A347G:p.N116S,POMT1:NM_001077366:exon7:c.A536G:p.N179S,POMT1:NM_001136113:exon8:c.A698G:p.N233S,;ANNO=splicing:POMT1
9	134394343	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:POMT1:NM_007171:exon15:c.G1551A:p.A517A,POMT1:NM_001077365:exon15:c.G1485A:p.A495A,POMT1:NM_001136114:exon13:c.G1134A:p.A378A,POMT1:NM_001077366:exon14:c.G1323A:p.A441A,POMT1:NM_001136113:exon15:c.G1485A:p.A495A,;ANNO=splicing:POMT1
9	134395580	.	C	T	100	PASS	AC=47;STUDIES=10;MAC=47;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:POMT1:NM_007171:exon17:c.C1764T:p.S588S,POMT1:NM_001077365:exon17:c.C1698T:p.S566S,POMT1:NM_001136114:exon15:c.C1347T:p.S449S,POMT1:NM_001077366:exon16:c.C1536T:p.S512S,POMT1:NM_001136113:exon17:c.C1698T:p.S566S,;ANNO=splicing:POMT1
9	134405874	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:UCK1:NM_031432:exon2:c.A267C:p.P89P,UCK1:NM_001135954:exon2:c.A267C:p.P89P,;ANNO=splicing:UCK1
9	134458089	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RAPGEF1:NM_198679:exon22:c.G2911T:p.G971C,RAPGEF1:NM_005312:exon22:c.G2857T:p.G953C,;ANNO=splicing:RAPGEF1
9	135147195	.	T	C	100	PASS	AC=25;STUDIES=6;MAC=25;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SETX:NM_015046:exon24:c.A7101G:p.G2367G,;ANNO=splicing:SETX
9	135164037	.	T	C	100	PASS	AC=41;STUDIES=7;MAC=41;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SETX:NM_015046:exon16:c.A6108G:p.G2036G,;ANNO=splicing:SETX
9	135211684	.	T	C	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SETX:NM_015046:exon6:c.A717G:p.L239L,;ANNO=splicing:SETX
9	135218185	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SETX:NM_015046:exon5:c.C390T:p.N130N,;ANNO=splicing:SETX
9	135501132	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DDX31:NM_022779:exon17:c.C1947T:p.N649N,;ANNO=splicing:DDX31
9	135763824	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C9orf9:NM_018956:exon4:c.C495T:p.H165H,;ANNO=splicing:C9orf9
9	135763825	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9orf9(NM_018956:c.495+1G>A)
9	135782221	.	T	C	100	PASS	AC=3341;STUDIES=21;MAC=3341;MAF=0.149;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:TSC1:NM_001162426:exon14:c.A1332G:p.E444E,TSC1:NM_000368:exon14:c.A1335G:p.E445E,TSC1:NM_001162427:exon13:c.A1182G:p.E394E,;ANNO=splicing:TSC1
9	135786954	.	C	G	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=synonymous:TSC1:NM_001162426:exon10:c.G915C:p.G305G,TSC1:NM_000368:exon10:c.G915C:p.G305G,TSC1:NM_001162427:exon9:c.G762C:p.G254G,;ANNO=synonymous:TSC1:NM_001162426:exon10:c.G915A:p.G305G,TSC1:NM_000368:exon10:c.G915A:p.G305G,TSC1:NM_001162427:exon9:c.G762A:p.G254G,;ANNO=splicing:TSC1;ANNO=splicing:TSC1
9	135862165	.	G	A	100	PASS	AC=64;STUDIES=8;MAC=64;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GFI1B:NM_001135031:exon2:c.G100A:p.V34M,GFI1B:NM_004188:exon2:c.G100A:p.V34M,;ANNO=splicing:GFI1B
9	135864448	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:GFI1B:NM_004188:exon5:c.G511A:p.V171I,;ANNO=nonsynonymous:GFI1B:NM_004188:exon5:c.G511T:p.V171F,;ANNO=splicing:GFI1B;ANNO=splicing:GFI1B
9	135929874	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GTF3C5:NM_001122823:exon7:c.A1068G:p.T356T,GTF3C5:NM_012087:exon7:c.A1068G:p.T356T,;ANNO=splicing:GTF3C5
9	135979651	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RALGDS:NM_006266:exon10:c.C1670T:p.T557M,RALGDS:NM_001042368:exon10:c.C1505T:p.T502M,;ANNO=splicing:RALGDS
9	136217582	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:RPL7A:NM_000972:exon6:c.C626T:p.S209L,;ANNO=splicing:RPL7A
9	136221811	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SURF1:NM_003172:exon3:c.G108A:p.G36G,;ANNO=splicing:SURF1
9	136227005	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SURF2:NM_017503:exon4:c.C517T:p.P173S,;ANNO=splicing:SURF2
9	136255310	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C9orf96:NM_153710:exon6:c.T397C:p.W133R,;ANNO=splicing:C9orf96
9	136259419	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C9orf96:NM_153710:exon8:c.C585T:p.D195D,;ANNO=splicing:C9orf96
9	136265658	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C9orf96(NM_153710:c.1198+1G>A)
9	136268952	.	G	T	100	PASS	AC=1494;STUDIES=22;MAC=1494;MAF=0.063;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C9orf96:NM_153710:exon15:c.G1603T:p.G535C,;ANNO=splicing:C9orf96
9	136277899	.	C	T	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:REXO4:NM_020385:exon3:c.G715A:p.G239S,;ANNO=splicing:REXO4
9	136289598	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ADAMTS13:NM_139025:exon3:c.C330T:p.I110I,ADAMTS13:NM_139026:exon3:c.C330T:p.I110I,ADAMTS13:NM_139027:exon3:c.C330T:p.I110I,;ANNO=splicing:ADAMTS13
9	136295153	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAMTS13:NM_139025:exon8:c.G919A:p.A307T,ADAMTS13:NM_139026:exon8:c.G826A:p.A276T,ADAMTS13:NM_139027:exon8:c.G919A:p.A307T,;ANNO=splicing:ADAMTS13
9	136501834	.	T	C	100	PASS	AC=19;STUDIES=10;MAC=19;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DBH(NM_000787:c.339+2T>C)
9	136505114	.	A	G	100	PASS	AC=11430;STUDIES=21;MAC=11064;MAF=0.492;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:DBH:NM_000787:exon2:c.A486G:p.E162E,;ANNO=splicing:DBH
9	136507586	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DBH:NM_000787:exon3:c.G744C:p.K248N,;ANNO=splicing:DBH
9	136531857	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SARDH:NM_007101:exon20:c.G2631A:p.P877P,SARDH:NM_001134707:exon20:c.G2631A:p.P877P,;ANNO=splicing:SARDH
9	136641201	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:VAV2:NM_001134398:exon24:c.C1967T:p.P656L,VAV2:NM_003371:exon22:c.C1937T:p.P646L,;ANNO=splicing:VAV2
9	136671302	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:VAV2:NM_001134398:exon9:c.A737G:p.D246G,VAV2:NM_003371:exon8:c.A722G:p.D241G,;ANNO=splicing:VAV2
9	136677338	.	G	A	100	PASS	AC=14;STUDIES=8;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:VAV2:NM_001134398:exon5:c.C450T:p.D150D,VAV2:NM_003371:exon5:c.C450T:p.D150D,;ANNO=splicing:VAV2
9	137591755	.	C	T	100	PASS	AC=58;STUDIES=14;MAC=58;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL5A1:NM_000093:exon3:c.C278T:p.A93V,;ANNO=splicing:COL5A1
9	137591756	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:COL5A1:NM_000093:exon3:c.G279A:p.A93A,;ANNO=splicing:COL5A1
9	137622320	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL5A1:NM_000093:exon7:c.A1163G:p.N388S,;ANNO=splicing:COL5A1
9	137630361	.	G	A	100	PASS	AC=790;STUDIES=13;MAC=790;MAF=0.052;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL5A1:NM_000093:exon10:c.G1431A:p.A477A,;ANNO=splicing:COL5A1
9	137660308	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL5A1:NM_000093:exon25:c.C2285T:p.P762L,;ANNO=splicing:COL5A1
9	137705881	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:COL5A1:NM_000093:exon49:c.C3905G:p.P1302R,;ANNO=nonsynonymous:COL5A1:NM_000093:exon49:c.C3905T:p.P1302L,;ANNO=splicing:COL5A1;ANNO=splicing:COL5A1
9	137707833	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:COL5A1:NM_000093:exon52:c.C4121T:p.T1374M,;ANNO=splicing:COL5A1
9	137707834	.	G	A	100	PASS	AC=3518;STUDIES=22;MAC=3518;MAF=0.145;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL5A1:NM_000093:exon52:c.G4122A:p.T1374T,;ANNO=splicing:COL5A1
9	137714878	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL5A1:NM_000093:exon60:c.C4643T:p.S1548L,;ANNO=splicing:COL5A1
9	137772768	.	G	A	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FCN2(NM_004108:c.100+1G>A,NM_015837:c.100+1G>A)
9	137777213	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FCN2(NM_004108:c.429+1G>A,NM_015837:c.315+1G>A)
9	137802978	.	C	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FCN1(NM_002003:c.733+1G>A)
9	137804862	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FCN1:NM_002003:exon6:c.C468T:p.T156T,;ANNO=splicing:FCN1
9	137806265	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:FCN1:NM_002003:exon4:c.A273G:p.G91G,;ANNO=splicing:FCN1
9	138387415	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C9orf116:NM_001048265:exon3:c.C269T:p.A90V,C9orf116:NM_144654:exon3:c.C223T:p.R75W,;ANNO=splicing:C9orf116
9	138392598	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MRPS2:NM_016034:exon1:c.G42C:p.A14A,;ANNO=splicing:MRPS2
9	138415148	.	G	A	100	PASS	AC=42;STUDIES=7;MAC=42;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:LCN1:NM_002297:exon3:c.G292A:p.D98N,;ANNO=splicing:LCN1
9	138415149	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LCN1(NM_002297:c.292+1G>A)
9	138440554	.	G	C	100	PASS	AC=4977;STUDIES=21;MAC=4977;MAF=0.224;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:OBP2A:NM_014582:exon5:c.G389C:p.G130A,;ANNO=splicing:OBP2A
9	138440654	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:OBP2A:NM_014582:exon5:c.G489A:p.T163T,;ANNO=splicing:OBP2A
9	138456201	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:PAEP(NM_002571:c.421+1G>A,NM_001018049:c.421+1G>A)
9	138557755	.	G	A	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=unknown:UNKNOWN;ANNO=splicing:LCN9
9	138589353	.	G	C	100	PASS	AC=148;STUDIES=9;MAC=148;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SOHLH1:NM_001012415:exon4:c.C466G:p.R156G,SOHLH1:NM_001101677:exon4:c.C466G:p.R156G,;ANNO=splicing:SOHLH1
9	138589474	.	C	T	100	PASS	AC=52;STUDIES=9;MAC=52;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SOHLH1(NM_001101677:c.345-1G>A,NM_001012415:c.345-1G>A)
9	138642022	.	G	A	100	PASS	AC=86;STUDIES=15;MAC=86;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KCNT1:NM_020822:exon3:c.G333A:p.S111S,;ANNO=splicing:KCNT1
9	138670668	.	G	A	100	PASS	AC=28;STUDIES=9;MAC=28;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KCNT1:NM_020822:exon23:c.G2729A:p.R910Q,;ANNO=splicing:KCNT1
9	138709824	.	G	T	100	PASS	AC=41;STUDIES=11;MAC=41;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CAMSAP1:NM_015447:exon14:c.C4270A:p.R1424R,;ANNO=splicing:CAMSAP1
9	138716726	.	G	A	100	PASS	AC=16;STUDIES=7;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CAMSAP1:NM_015447:exon9:c.C1224T:p.L408L,;ANNO=splicing:CAMSAP1
9	138838116	.	A	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:UBAC1:NM_016172:exon5:c.T543C:p.N181N,;ANNO=splicing:UBAC1
9	138839644	.	G	A	100	PASS	AC=296;STUDIES=9;MAC=296;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:UBAC1:NM_016172:exon4:c.C441T:p.D147D,;ANNO=splicing:UBAC1
9	139110654	.	C	T	100	PASS	AC=5906;STUDIES=22;MAC=5906;MAF=0.243;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:QSOX2:NM_181701:exon8:c.G957A:p.K319K,;ANNO=splicing:QSOX2
9	139243218	.	G	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPSM1:NM_001145638:exon10:c.G1277A:p.R426Q,;ANNO=splicing:GPSM1
9	139259592	.	C	G	100	PASS	AC=87;STUDIES=13;MAC=87;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CARD9(NM_052814:c.1434+1G>C,NM_052813:c.1434+1G>C)
9	139264888	.	T	A	100	PASS	AC=89;STUDIES=15;MAC=89;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CARD9:NM_052813:exon6:c.A809T:p.E270V,CARD9:NM_052814:exon6:c.A809T:p.E270V,;ANNO=splicing:CARD9
9	139265596	.	G	A	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CARD9:NM_052813:exon4:c.C324T:p.D108D,CARD9:NM_052814:exon4:c.C324T:p.D108D,;ANNO=splicing:CARD9
9	139275844	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SNAPC4:NM_003086:exon18:c.C2318T:p.A773V,;ANNO=splicing:SNAPC4
9	139279173	.	G	A	100	PASS	AC=8091;STUDIES=20;MAC=8091;MAF=0.389;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:SNAPC4:NM_003086:exon13:c.C1419T:p.V473V,;ANNO=splicing:SNAPC4
9	139292751	.	C	T	100	PASS	AC=89;STUDIES=9;MAC=89;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SNAPC4:NM_003086:exon1:c.G130A:p.D44N,;ANNO=splicing:SNAPC4
9	139299543	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:SDCCAG3:NM_001039707:exon7:c.C1005T:p.T335T,SDCCAG3:NM_001039708:exon5:c.C786T:p.T262T,SDCCAG3:NM_006643:exon6:c.C936T:p.T312T,;ANNO=splicing:SDCCAG3
9	139311404	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PMPCA:NM_015160:exon7:c.C635T:p.A212V,;ANNO=splicing:PMPCA
9	139325568	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:INPP5E:NM_019892:exon8:c.G1551T:p.G517G,;ANNO=splicing:INPP5E
9	139326437	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:INPP5E:NM_019892:exon7:c.C1388T:p.A463V,;ANNO=splicing:INPP5E
9	139407585	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NOTCH1:NM_017617:exon15:c.T2355C:p.G785G,;ANNO=splicing:NOTCH1
9	139408963	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:NOTCH1:NM_017617:exon13:c.G2206A:p.G736R,;ANNO=splicing:NOTCH1
9	139412205	.	G	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=synonymous:NOTCH1:NM_017617:exon8:c.C1440T:p.P480P,;ANNO=synonymous:NOTCH1:NM_017617:exon8:c.C1440A:p.P480P,;ANNO=splicing:NOTCH1;ANNO=splicing:NOTCH1
9	139569261	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AGPAT2(NM_006412:c.588-2A>G,NM_001012727:c.492-2A>G)
9	139612162	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM69B:NM_152421:exon2:c.T197C:p.I66T,;ANNO=splicing:FAM69B
9	139635287	.	C	T	100	PASS	AC=16;STUDIES=3;MAC=16;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LCN10(NM_001001712:c.475+1G>A)
9	139639092	.	G	A	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:LCN6
9	139639621	.	C	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LCN6(NM_198946:c.412+1G>T)
9	139639622	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LCN6:NM_198946:exon4:c.A412G:p.S138G,;ANNO=splicing:LCN6
9	139649612	.	C	A	100	PASS	AC=2998;STUDIES=21;MAC=2998;MAF=0.139;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:LCN8:NM_178469:exon6:c.G422T:p.G141V,;ANNO=splicing:LCN8
9	139649967	.	G	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LCN8:NM_178469:exon4:c.C228A:p.G76G,;ANNO=splicing:LCN8
9	139657919	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LCN15:NM_203347:exon4:c.C308T:p.A103V,;ANNO=splicing:LCN15
9	139687270	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM141(NM_032928:c.313-1G>A)
9	139694455	.	T	A	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1984:NM_001039374:exon4:c.T272A:p.V91E,;ANNO=splicing:KIAA1984
9	139700690	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA1984:NM_001039374:exon10:c.G1109A:p.S370N,;ANNO=splicing:KIAA1984
9	139733937	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:C9orf86:NM_001173988:exon12:c.C1760T:p.A587V,C9orf86:NM_024718:exon12:c.C1757T:p.A586V,;ANNO=splicing:C9orf86
9	139734316	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C9orf86:NM_001173988:exon13:c.A1932G:p.E644E,C9orf86:NM_024718:exon13:c.A1929G:p.E643E,;ANNO=splicing:C9orf86
9	139745012	.	G	T	100	PASS	AC=19;STUDIES=7;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PHPT1:NM_001135861:exon3:c.G340T:p.G114C,;ANNO=splicing:PHPT1
9	139748789	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MAMDC4(NM_206920:c.796+1G>A)
9	139749302	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MAMDC4:NM_206920:exon9:c.G1023A:p.S341S,;ANNO=splicing:MAMDC4
9	139750072	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MAMDC4(NM_206920:c.1471+1G>A)
9	139753768	.	G	A	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MAMDC4:NM_206920:exon25:c.G3192A:p.P1064P,;ANNO=splicing:MAMDC4
9	139794123	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRAF2:NM_021138:exon3:c.C266T:p.S89L,;ANNO=splicing:TRAF2
9	139835915	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FBXW5:NM_018998:exon8:c.G1245A:p.R415R,;ANNO=splicing:FBXW5
9	139840643	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C8G:NM_000606:exon4:c.C453T:p.Y151Y,;ANNO=splicing:C8G
9	139841017	.	C	T	100	PASS	AC=101;STUDIES=7;MAC=101;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C8G:NM_000606:exon5:c.C555T:p.Y185Y,;ANNO=splicing:C8G
9	139841101	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C8G(NM_000606:c.556-2A>G)
9	139847479	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:LCN12:NM_178536:exon2:c.C250T:p.R84X,;ANNO=splicing:LCN12
9	139847480	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LCN12:NM_178536:exon2:c.G251A:p.R84Q,;ANNO=splicing:LCN12
9	139889895	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CLIC3:NM_004669:exon3:c.G268A:p.D90N,;ANNO=splicing:CLIC3
9	139906828	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABCA2:NM_001606:exon32:c.G5193A:p.R1731R,ABCA2:NM_212533:exon32:c.G5283A:p.R1761R,;ANNO=splicing:ABCA2
9	139934423	.	C	T	100	PASS	AC=68;STUDIES=8;MAC=68;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NPDC1:NM_015392:exon8:c.G885A:p.P295P,;ANNO=splicing:NPDC1
9	139934887	.	G	A	100	PASS	AC=25;STUDIES=8;MAC=25;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NPDC1:NM_015392:exon7:c.C710T:p.P237L,;ANNO=splicing:NPDC1
9	139943313	.	C	T	100	PASS	AC=64;STUDIES=3;MAC=64;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ENTPD2(NM_001246:c.1215-1G>A,NM_203468:c.1284-1G>A)
9	139944736	.	C	G	100	PASS	AC=846;STUDIES=6;MAC=846;MAF=0.271;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=13;ANNO=synonymous:ENTPD2:NM_203468:exon6:c.G1029C:p.V343V,ENTPD2:NM_001246:exon6:c.G1029C:p.V343V,;ANNO=splicing:ENTPD2
9	139945822	.	G	A	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ENTPD2:NM_203468:exon4:c.C387T:p.N129N,ENTPD2:NM_001246:exon4:c.C387T:p.N129N,;ANNO=splicing:ENTPD2
9	139946111	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ENTPD2:NM_203468:exon3:c.T237C:p.G79G,ENTPD2:NM_001246:exon3:c.T237C:p.G79G,;ANNO=splicing:ENTPD2
9	139973130	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UAP1L1(NM_207309:c.670+1G>A)
9	139976450	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:UAP1L1:NM_207309:exon8:c.C1365T:p.S455S,;ANNO=splicing:UAP1L1
9	140007259	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DPP7(NM_013379:c.870-2A>C)
9	140108520	.	C	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NDOR1:NM_001144028:exon5:c.C512G:p.P171R,NDOR1:NM_001144026:exon5:c.C512G:p.P171R,NDOR1:NM_014434:exon5:c.C512G:p.P171R,;ANNO=splicing:NDOR1
9	140109655	.	G	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NDOR1(NM_014434:c.1173+1G>T,NM_001144026:c.1173+1G>T,NM_001144027:c.1071+1G>T,NM_001144028:c.1173+1G>T)
9	140127379	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC34A3:NM_001177316:exon5:c.C448T:p.L150L,SLC34A3:NM_080877:exon5:c.C448T:p.L150L,SLC34A3:NM_001177317:exon5:c.C448T:p.L150L,;ANNO=splicing:SLC34A3
9	140127380	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC34A3(NM_001177317:c.448+1G>A,NM_001177316:c.448+1G>A,NM_080877:c.448+1G>A)
9	140127856	.	G	A	100	PASS	AC=24;STUDIES=8;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC34A3:NM_001177316:exon7:c.G756A:p.Q252Q,SLC34A3:NM_080877:exon7:c.G756A:p.Q252Q,SLC34A3:NM_001177317:exon7:c.G756A:p.Q252Q,;ANNO=splicing:SLC34A3
9	140128085	.	T	C	100	PASS	AC=9208;STUDIES=20;MAC=9208;MAF=0.426;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:SLC34A3:NM_001177316:exon8:c.T757C:p.L253L,SLC34A3:NM_080877:exon8:c.T757C:p.L253L,SLC34A3:NM_001177317:exon8:c.T757C:p.L253L,;ANNO=splicing:SLC34A3
9	140128174	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC34A3:NM_001177316:exon8:c.G846A:p.P282P,SLC34A3:NM_080877:exon8:c.G846A:p.P282P,SLC34A3:NM_001177317:exon8:c.G846A:p.P282P,;ANNO=splicing:SLC34A3
9	140128869	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC34A3:NM_001177316:exon11:c.C1095T:p.D365D,SLC34A3:NM_080877:exon11:c.C1095T:p.D365D,SLC34A3:NM_001177317:exon11:c.C1095T:p.D365D,;ANNO=splicing:SLC34A3
9	140138241	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:FAM166A(NM_001001710:c.865-1G>A)
9	140138623	.	C	T	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM166A:NM_001001710:exon6:c.G865A:p.A289T,;ANNO=splicing:FAM166A
9	140139757	.	G	A	100	PASS	AC=20830;STUDIES=18;MAC=184;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM166A(NM_001001710:c.522+2C>T)
9	140140008	.	A	G	100	PASS	AC=39;STUDIES=3;MAC=39;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FAM166A:NM_001001710:exon3:c.T273C:p.S91S,;ANNO=splicing:FAM166A
9	140242692	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EXD3(NM_017820:c.1830-2A>G)
9	140245598	.	G	A	100	PASS	AC=25;STUDIES=5;MAC=25;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EXD3:NM_017820:exon14:c.C1386T:p.G462G,;ANNO=splicing:EXD3
9	140289755	.	C	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EXD3:NM_017820:exon2:c.G55C:p.G19R,;ANNO=splicing:EXD3
9	140325554	.	T	G	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NOXA1(NM_006647:c.698+2T>G)
9	140349509	.	T	C	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NELF(NM_001130970:c.710+1A>G)
9	140350937	.	G	A	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NELF:NM_001130970:exon4:c.C630T:p.D210D,NELF:NM_001130969:exon4:c.C630T:p.D210D,NELF:NM_001178064:exon4:c.C630T:p.D210D,NELF:NM_001130971:exon4:c.C630T:p.D210D,NELF:NM_015537:exon4:c.C630T:p.D210D,;ANNO=splicing:NELF
9	140355188	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PNPLA7:NM_152286:exon33:c.C3768T:p.D1256D,PNPLA7:NM_001098537:exon34:c.C3843T:p.D1281D,;ANNO=splicing:PNPLA7
9	140357867	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PNPLA7:NM_152286:exon28:c.G3268A:p.A1090T,PNPLA7:NM_001098537:exon29:c.G3343A:p.A1115T,;ANNO=splicing:PNPLA7
9	140374931	.	C	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PNPLA7:NM_152286:exon22:c.G2338A:p.V780I,PNPLA7:NM_001098537:exon23:c.G2413A:p.V805I,;ANNO=splicing:PNPLA7
9	140438024	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PNPLA7:NM_152286:exon5:c.G291T:p.R97S,PNPLA7:NM_001098537:exon6:c.G366T:p.R122S,;ANNO=splicing:PNPLA7
9	140507913	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ARRDC1:NM_152285:exon3:c.G231T:p.G77G,;ANNO=splicing:ARRDC1
9	140648742	.	C	T	100	PASS	AC=1654;STUDIES=19;MAC=1654;MAF=0.078;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EHMT1:NM_024757:exon8:c.C1368T:p.L456L,EHMT1:NM_001145527:exon8:c.C1368T:p.L456L,;ANNO=splicing:EHMT1
9	140772670	.	A	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.400;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=1;ANNO=splicing:CACNA1B(NM_000718:c.284+1A>T)
9	140907688	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CACNA1B(NM_000718:c.2267+1G>A)
9	141014823	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CACNA1B:NM_000718:exon44:c.C6237T:p.G2079G,;ANNO=splicing:CACNA1B
10	486935	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DIP2C:NM_014974:exon4:c.C270G:p.D90E,;ANNO=splicing:DIP2C
10	1045035	.	G	A	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GTPBP4:NM_012341:exon6:c.G654A:p.Q218Q,;ANNO=splicing:GTPBP4
10	1051758	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GTPBP4:NM_012341:exon9:c.A913G:p.K305E,;ANNO=splicing:GTPBP4
10	1053067	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GTPBP4:NM_012341:exon10:c.A1112C:p.K371T,;ANNO=splicing:GTPBP4
10	1054898	.	G	A	100	PASS	AC=101;STUDIES=16;MAC=101;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GTPBP4:NM_012341:exon11:c.G1114A:p.E372K,;ANNO=splicing:GTPBP4
10	1058406	.	A	G	100	PASS	AC=29;STUDIES=5;MAC=29;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GTPBP4:NM_012341:exon14:c.A1346G:p.K449R,;ANNO=splicing:GTPBP4
10	1061836	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GTPBP4:NM_012341:exon16:c.G1752A:p.K584K,;ANNO=splicing:GTPBP4
10	1063015	.	A	T	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GTPBP4:NM_012341:exon17:c.A1753T:p.M585L,;ANNO=splicing:GTPBP4
10	1130477	.	C	T	100	PASS	AC=60;STUDIES=16;MAC=60;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:WDR37:NM_014023:exon6:c.C531T:p.A177A,;ANNO=splicing:WDR37
10	1170158	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:WDR37:NM_014023:exon12:c.C1104T:p.D368D,;ANNO=splicing:WDR37
10	1421270	.	G	A	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ADARB2:NM_018702:exon2:c.C186T:p.L62L,;ANNO=splicing:ADARB2
10	3143745	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PFKP:NM_002627:exon4:c.C453T:p.N151N,PFKP:NM_001242339:exon6:c.C429T:p.N143N,;ANNO=splicing:PFKP
10	3143746	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PFKP:NM_002627:exon4:c.G454A:p.G152S,PFKP:NM_001242339:exon6:c.G430A:p.G144S,;ANNO=splicing:PFKP
10	3162237	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PFKP(NM_002627:c.1683+1G>A,NM_001242339:c.1659+1G>A)
10	3172012	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PFKP:NM_002627:exon17:c.C1685A:p.T562N,PFKP:NM_001242339:exon19:c.C1661A:p.T554N,;ANNO=splicing:PFKP
10	3180316	.	T	C	100	PASS	AC=9607;STUDIES=17;MAC=6039;MAF=0.386;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=synonymous:PITRM1:NM_001242309:exon24:c.A2727G:p.R909R,PITRM1:NM_001242307:exon27:c.A3024G:p.R1008R,PITRM1:NM_014889:exon27:c.A3021G:p.R1007R,;ANNO=splicing:PITRM1
10	3183003	.	G	A	100	PASS	AC=177;STUDIES=14;MAC=177;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PITRM1:NM_001242309:exon21:c.C2353T:p.L785F,PITRM1:NM_001242307:exon24:c.C2650T:p.L884F,PITRM1:NM_014889:exon24:c.C2647T:p.L883F,;ANNO=splicing:PITRM1
10	3189343	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PITRM1:NM_001242309:exon17:c.A2041T:p.R681W,PITRM1:NM_001242307:exon20:c.A2338T:p.R780W,PITRM1:NM_014889:exon20:c.A2335T:p.R779W,;ANNO=splicing:PITRM1
10	3189442	.	C	A	100	PASS	AC=26;STUDIES=8;MAC=26;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PITRM1:NM_001242309:exon17:c.G1942T:p.V648L,PITRM1:NM_001242307:exon20:c.G2239T:p.V747L,PITRM1:NM_014889:exon20:c.G2236T:p.V746L,;ANNO=splicing:PITRM1
10	3189763	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PITRM1(NM_014889:c.2235+1G>A,NM_001242307:c.2238+1G>A,NM_001242309:c.1941+1G>A)
10	4879774	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AKR1E2(NM_001040177:c.582+1G>A)
10	4884698	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AKR1E2(NM_001040177:c.837+2T>G)
10	4889421	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AKR1E2:NM_001040177:exon9:c.A919G:p.I307V,;ANNO=splicing:AKR1E2
10	5014503	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:AKR1C1(NM_001353:c.680+1G>A)
10	5139626	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AKR1C3:NM_003739:exon3:c.C253T:p.L85F,;ANNO=splicing:AKR1C3
10	5141642	.	G	A	100	PASS	AC=24;STUDIES=4;MAC=24;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:AKR1C3(NM_003739:c.570+1G>A)
10	5147869	.	G	C	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AKR1C3:NM_003739:exon8:c.G929C:p.S310T,;ANNO=splicing:AKR1C3
10	5260682	.	C	G	100	PASS	AC=3033;STUDIES=21;MAC=3033;MAF=0.126;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AKR1C4:NM_001818:exon9:c.C931G:p.L311V,;ANNO=splicing:AKR1C4
10	5683731	.	A	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ASB13(NM_024701:c.709+2T>G)
10	5836849	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GDI2:NM_001494:exon4:c.T387C:p.S129S,;ANNO=splicing:GDI2
10	5959469	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FBXO18:NM_032807:exon12:c.C2028T:p.D676D,FBXO18:NM_178150:exon11:c.C1875T:p.D625D,;ANNO=splicing:FBXO18
10	5967454	.	T	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FBXO18:NM_032807:exon19:c.T2874G:p.V958V,FBXO18:NM_178150:exon18:c.T2721G:p.V907V,;ANNO=splicing:FBXO18
10	6259099	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PFKFB3:NM_001145443:exon6:c.C383T:p.A128V,PFKFB3:NM_004566:exon6:c.C443T:p.A148V,;ANNO=splicing:PFKFB3
10	7412243	.	G	A	100	PASS	AC=57;STUDIES=14;MAC=57;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SFMBT2:NM_001029880:exon3:c.C195T:p.H65H,SFMBT2:NM_001018039:exon3:c.C195T:p.H65H,;ANNO=splicing:SFMBT2
10	7749164	.	A	C	100	PASS	AC=51;STUDIES=5;MAC=51;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ITIH2:NM_002216:exon3:c.A160C:p.R54R,;ANNO=splicing:ITIH2
10	7751155	.	G	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITIH2(NM_002216:c.362+1G>C)
10	7765529	.	A	G	100	PASS	AC=95;STUDIES=17;MAC=95;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITIH2:NM_002216:exon9:c.A983G:p.Q328R,;ANNO=splicing:ITIH2
10	7769666	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ITIH2:NM_002216:exon11:c.G1154A:p.G385D,;ANNO=splicing:ITIH2
10	7780585	.	G	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ITIH2:NM_002216:exon16:c.G1959C:p.G653G,;ANNO=splicing:ITIH2
10	11532832	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:USP6NL:NM_014688:exon9:c.C542T:p.T181M,USP6NL:NM_001080491:exon8:c.C593T:p.T198M,;ANNO=splicing:USP6NL
10	11791591	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ECHDC3:NM_024693:exon3:c.G390A:p.K130K,;ANNO=splicing:ECHDC3
10	12006124	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UPF2:NM_080599:exon11:c.A2068G:p.M690V,UPF2:NM_015542:exon11:c.A2068G:p.M690V,;ANNO=splicing:UPF2
10	12155062	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DHTKD1:NM_018706:exon13:c.C2318T:p.P773L,;ANNO=splicing:DHTKD1
10	12214864	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=synonymous:NUDT5:NM_014142:exon7:c.G387T:p.A129A,;ANNO=synonymous:NUDT5:NM_014142:exon7:c.G387A:p.A129A,;ANNO=splicing:NUDT5;ANNO=splicing:NUDT5
10	12238319	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDC123(NM_006023:c.74+1G>A)
10	12802947	.	G	C	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CAMK1D:NM_020397:exon4:c.G300C:p.L100L,CAMK1D:NM_153498:exon4:c.G300C:p.L100L,;ANNO=splicing:CAMK1D
10	13230882	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MCM10:NM_018518:exon10:c.G1217A:p.R406H,MCM10:NM_182751:exon10:c.G1220A:p.R407H,;ANNO=splicing:MCM10
10	13325839	.	C	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:PHYH:NM_001037537:exon6:c.G379T:p.G127W,PHYH:NM_006214:exon7:c.G679T:p.G227W,;ANNO=nonsynonymous:PHYH:NM_001037537:exon6:c.G379C:p.G127R,PHYH:NM_006214:exon7:c.G679C:p.G227R,;ANNO=splicing:PHYH;ANNO=splicing:PHYH
10	13330543	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PHYH(NM_006214:c.496-2A>G,NM_001037537:c.196-2A>G)
10	13337497	.	G	C	100	PASS	AC=23;STUDIES=6;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:PHYH:NM_006214:exon3:c.C244T:p.R82W,;ANNO=nonsynonymous:PHYH:NM_006214:exon3:c.C244G:p.R82G,;ANNO=splicing:PHYH;ANNO=splicing:PHYH
10	13337608	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PHYH(NM_006214:c.134-2A>G)
10	13653615	.	G	A	100	PASS	AC=196;STUDIES=19;MAC=196;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRPF18:NM_003675:exon6:c.G511A:p.A171T,;ANNO=splicing:PRPF18
10	13708098	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FRMD4A:NM_018027:exon18:c.C1602T:p.D534D,;ANNO=splicing:FRMD4A
10	13852814	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FRMD4A:NM_018027:exon4:c.C206T:p.T69M,;ANNO=splicing:FRMD4A
10	14976703	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DCLRE1C:NM_001033855:exon7:c.G536A:p.R179Q,DCLRE1C:NM_001033858:exon9:c.G176A:p.R59Q,DCLRE1C:NM_001033857:exon8:c.G176A:p.R59Q,DCLRE1C:NM_022487:exon6:c.G191A:p.R64Q,;ANNO=splicing:DCLRE1C
10	15098983	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:OLAH(NM_018324:c.322+2T>G)
10	15107752	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OLAH:NM_018324:exon7:c.C731T:p.T244I,OLAH:NM_001039702:exon6:c.C572T:p.T191I,;ANNO=splicing:OLAH
10	15107753	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:OLAH(NM_018324:c.731+1G>A,NM_001039702:c.572+1G>A)
10	15113876	.	G	C	100	PASS	AC=197;STUDIES=19;MAC=197;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OLAH:NM_018324:exon8:c.G814C:p.A272P,OLAH:NM_001039702:exon7:c.G655C:p.A219P,;ANNO=splicing:OLAH
10	15120604	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACBD7(NM_001039844:c.193-2A>G)
10	15573050	.	A	G	100	PASS	AC=22088;STUDIES=21;MAC=584;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:ITGA8:NM_003638:exon28:c.T2981C:p.V994A,;ANNO=splicing:ITGA8
10	15655659	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ITGA8:NM_003638:exon15:c.G1553A:p.C518Y,;ANNO=splicing:ITGA8
10	16737154	.	C	G	100	PASS	AC=14;STUDIES=6;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RSU1:NM_152724:exon7:c.G440C:p.G147A,RSU1:NM_012425:exon8:c.G599C:p.G200A,;ANNO=splicing:RSU1
10	16941181	.	A	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CUBN:NM_001081:exon54:c.T8412C:p.G2804G,;ANNO=splicing:CUBN
10	16961960	.	A	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:CUBN(NM_001081:c.6821+2T>C)
10	16970304	.	T	C	100	PASS	AC=26;STUDIES=4;MAC=26;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:CUBN(NM_001081:c.6124-2A>G)
10	16982031	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CUBN:NM_001081:exon37:c.A5548T:p.I1850L,;ANNO=splicing:CUBN
10	17061833	.	G	A	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CUBN:NM_001081:exon28:c.C4167T:p.Y1389Y,;ANNO=splicing:CUBN
10	17089602	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CUBN:NM_001081:exon23:c.C3140A:p.A1047E,;ANNO=splicing:CUBN
10	17113827	.	G	A	100	PASS	AC=86;STUDIES=6;MAC=86;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CUBN:NM_001081:exon18:c.C2445T:p.V815V,;ANNO=splicing:CUBN
10	17169826	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CUBN(NM_001081:c.348+2T>C)
10	17813380	.	G	C	100	PASS	AC=18;STUDIES=6;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:TMEM236:NM_001098844:exon2:c.G330C:p.E110D,;ANNO=splicing:TMEM236
10	18823005	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CACNB2:NM_201596:exon11:c.C1055T:p.A352V,CACNB2:NM_201572:exon11:c.C899T:p.A300V,CACNB2:NM_201597:exon11:c.C983T:p.A328V,CACNB2:NM_201571:exon11:c.C971T:p.A324V,CACNB2:NM_201590:exon10:c.C893T:p.A298V,CACNB2:NM_001167945:exon11:c.C857T:p.A286V,CACNB2:NM_201593:exon11:c.C941T:p.A314V,CACNB2:NM_000724:exon10:c.C890T:p.A297V,CACNB2:NM_201570:exon10:c.C911T:p.A304V,;ANNO=splicing:CACNB2
10	18964097	.	G	A	100	PASS	AC=1434;STUDIES=20;MAC=1434;MAF=0.062;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ARL5B:NM_178815:exon6:c.G492A:p.G164G,;ANNO=splicing:ARL5B
10	20357167	.	G	T	100	PASS	AC=62;STUDIES=13;MAC=62;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLXDC2:NM_032812:exon4:c.G540T:p.G180G,;ANNO=splicing:PLXDC2
10	21106620	.	A	G	100	PASS	AC=121;STUDIES=9;MAC=121;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NEBL:NM_006393:exon21:c.T2057C:p.V686A,;ANNO=splicing:NEBL
10	21108354	.	G	A	100	PASS	AC=17;STUDIES=8;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NEBL:NM_006393:exon20:c.C2054T:p.A685V,;ANNO=splicing:NEBL
10	21112137	.	A	T	100	PASS	AC=1464;STUDIES=21;MAC=1464;MAF=0.062;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NEBL:NM_006393:exon19:c.T1962A:p.N654K,;ANNO=splicing:NEBL
10	21112229	.	C	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NEBL:NM_006393:exon19:c.G1870C:p.V624L,;ANNO=splicing:NEBL
10	21117460	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:NEBL:NM_006393:exon17:c.C1775T:p.A592V,;ANNO=nonsynonymous:NEBL:NM_006393:exon17:c.C1775A:p.A592E,;ANNO=splicing:NEBL;ANNO=splicing:NEBL
10	21117460	.	G	T	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:NEBL:NM_006393:exon17:c.C1775T:p.A592V,;ANNO=nonsynonymous:NEBL:NM_006393:exon17:c.C1775A:p.A592E,;ANNO=splicing:NEBL;ANNO=splicing:NEBL
10	21147169	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NEBL:NM_006393:exon9:c.C903T:p.G301G,;ANNO=splicing:NEBL
10	21250601	.	A	G	100	PASS	AC=91;STUDIES=7;MAC=91;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NEBL:NM_213569:exon4:c.T357C:p.N119N,NEBL:NM_001173484:exon4:c.T357C:p.N119N,;ANNO=splicing:NEBL
10	21884261	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MLLT10:NM_001195626:exon4:c.T297C:p.G99G,MLLT10:NM_004641:exon5:c.T297C:p.G99G,;ANNO=splicing:MLLT10
10	21906135	.	A	G	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MLLT10:NM_001195626:exon7:c.A698G:p.K233R,MLLT10:NM_004641:exon8:c.A698G:p.K233R,;ANNO=splicing:MLLT10
10	22607644	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COMMD3(NM_012071:c.411+2T>G)
10	23250814	.	A	G	100	PASS	AC=61;STUDIES=4;MAC=61;MAF=0.044;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ARMC3:NM_173081:exon7:c.A539G:p.D180G,;ANNO=splicing:ARMC3
10	23287077	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ARMC3:NM_173081:exon11:c.C1176T:p.N392N,;ANNO=splicing:ARMC3
10	23393172	.	C	T	100	PASS	AC=48;STUDIES=15;MAC=48;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MSRB2:NM_012228:exon2:c.C218T:p.P73L,;ANNO=splicing:MSRB2
10	23393173	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MSRB2:NM_012228:exon2:c.G219A:p.P73P,;ANNO=splicing:MSRB2
10	24813693	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA1217:NM_019590:exon13:c.G2898C:p.E966D,KIAA1217:NM_001098500:exon14:c.G2658C:p.E886D,KIAA1217:NM_001098501:exon12:c.G2793C:p.E931D,;ANNO=splicing:KIAA1217
10	24896675	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ARHGAP21:NM_020824:exon10:c.C2580T:p.H860H,;ANNO=splicing:ARHGAP21
10	25144247	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PRTFDC1:NM_020200:exon7:c.T553C:p.Y185H,;ANNO=splicing:PRTFDC1
10	25147322	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PRTFDC1:NM_020200:exon5:c.A422G:p.E141G,;ANNO=splicing:PRTFDC1
10	25509981	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GPR158:NM_020752:exon2:c.G903A:p.R301R,;ANNO=splicing:GPR158
10	26224759	.	G	A	100	PASS	AC=97;STUDIES=2;MAC=97;MAF=0.068;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:MYO3A
10	26243804	.	A	C	100	PASS	AC=25;STUDIES=11;MAC=25;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYO3A:NM_017433:exon4:c.A170C:p.D57A,;ANNO=splicing:MYO3A
10	26356002	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO3A:NM_017433:exon11:c.A1052C:p.E351A,;ANNO=splicing:MYO3A
10	26359144	.	G	A	100	PASS	AC=17;STUDIES=7;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MYO3A:NM_017433:exon13:c.G1275A:p.Q425Q,;ANNO=splicing:MYO3A
10	26436358	.	G	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYO3A(NM_017433:c.2505-1G>A)
10	26457804	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYO3A(NM_017433:c.3274+1G>T)
10	26513468	.	G	A	100	PASS	AC=91;STUDIES=16;MAC=91;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GAD2:NM_001134366:exon6:c.G612A:p.M204I,GAD2:NM_000818:exon6:c.G612A:p.M204I,;ANNO=splicing:GAD2
10	26575274	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GAD2:NM_001134366:exon13:c.G1237A:p.G413R,GAD2:NM_000818:exon13:c.G1237A:p.G413R,;ANNO=splicing:GAD2
10	27322306	.	C	T	100	PASS	AC=181;STUDIES=17;MAC=181;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:ANKRD26:NM_014915:exon25:c.G3655A:p.V1219I,;ANNO=splicing:ANKRD26
10	27352918	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ANKRD26:NM_014915:exon12:c.A1362C:p.E454D,;ANNO=splicing:ANKRD26
10	27454316	.	A	G	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MASTL(NM_032844:c.660-2A>G,NM_001172304:c.660-2A>G,NM_001172303:c.660-2A>G)
10	27700857	.	A	C	100	PASS	AC=123;STUDIES=4;MAC=123;MAF=0.096;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTCHD3:NM_001034842:exon2:c.T1091G:p.V364G,;ANNO=splicing:PTCHD3
10	27798805	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:RAB18:NM_021252:exon2:c.C70T:p.L24L,;ANNO=splicing:RAB18
10	28228825	.	C	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ARMC4(NM_018076:c.2097+1G>T)
10	28257852	.	C	T	100	PASS	AC=437;STUDIES=7;MAC=437;MAF=0.045;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:ARMC4:NM_018076:exon9:c.G1238A:p.R413Q,;ANNO=splicing:ARMC4
10	28257853	.	G	C	100	PASS	AC=247;STUDIES=6;MAC=247;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;SNP_ON_LEFT;HWE_FAILURES=1;ANNO=nonsynonymous:ARMC4:NM_018076:exon9:c.C1237G:p.R413G,;ANNO=splicing:ARMC4
10	28270393	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ARMC4(NM_018076:c.936+2T>C)
10	28273221	.	T	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ARMC4(NM_018076:c.575-2A>T)
10	28420620	.	C	T	100	PASS	AC=131;STUDIES=17;MAC=131;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MPP7:NM_173496:exon8:c.G316A:p.A106T,;ANNO=splicing:MPP7
10	28970473	.	A	C	100	PASS	AC=68;STUDIES=6;MAC=68;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BAMBI:NM_012342:exon2:c.A363C:p.S121S,;ANNO=splicing:BAMBI
10	28970912	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BAMBI:NM_012342:exon3:c.G365A:p.G122E,;ANNO=splicing:BAMBI
10	29747261	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:SVIL:NM_003174:exon36:c.T5282C:p.F1761S,SVIL:NM_021738:exon38:c.T6560C:p.F2187S,;ANNO=splicing:SVIL
10	29770657	.	T	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:SVIL:NM_003174:exon26:c.A3678C:p.R1226S,SVIL:NM_021738:exon28:c.A4956C:p.R1652S,;ANNO=splicing:SVIL
10	29788192	.	G	A	100	PASS	AC=19;STUDIES=4;MAC=19;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:SVIL:NM_003174:exon16:c.C2239T:p.R747W,SVIL:NM_021738:exon18:c.C3517T:p.R1173W,;ANNO=splicing:SVIL
10	29811564	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SVIL:NM_003174:exon14:c.C1886T:p.A629V,SVIL:NM_021738:exon16:c.C3164T:p.A1055V,;ANNO=splicing:SVIL
10	29818634	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SVIL:NM_003174:exon11:c.C1064T:p.T355I,SVIL:NM_021738:exon12:c.C2246T:p.T749I,;ANNO=splicing:SVIL
10	29843981	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SVIL:NM_003174:exon6:c.A7C:p.R3R,SVIL:NM_021738:exon4:c.A7C:p.R3R,;ANNO=splicing:SVIL
10	30915707	.	G	A	100	PASS	AC=73;STUDIES=6;MAC=73;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:LYZL2:NM_183058:exon2:c.C276T:p.N92N,;ANNO=splicing:LYZL2
10	31803635	.	T	C	100	PASS	AC=16;STUDIES=2;MAC=16;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZEB1:NM_001174093:exon5:c.T729C:p.S243S,ZEB1:NM_001174096:exon6:c.T792C:p.S264S,ZEB1:NM_001174094:exon6:c.T738C:p.S246S,ZEB1:NM_001128128:exon6:c.T741C:p.S247S,ZEB1:NM_030751:exon6:c.T789C:p.S263S,ZEB1:NM_001174095:exon5:c.T588C:p.S196S,;ANNO=splicing:ZEB1
10	32128246	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ARHGAP12:NM_018287:exon9:c.C1373T:p.A458V,;ANNO=splicing:ARHGAP12
10	32308786	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIF5B:NM_004521:exon20:c.C2306T:p.T769M,;ANNO=splicing:KIF5B
10	32320002	.	G	A	100	PASS	AC=74;STUDIES=16;MAC=74;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIF5B:NM_004521:exon14:c.C1580T:p.S527L,;ANNO=splicing:KIF5B
10	32580250	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EPC1:NM_025209:exon6:c.G816A:p.R272R,;ANNO=splicing:EPC1
10	32745262	.	T	C	100	PASS	AC=2879;STUDIES=22;MAC=2879;MAF=0.119;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCDC7:NM_145023:exon4:c.T456C:p.N152N,CCDC7:NM_001026383:exon4:c.T456C:p.N152N,;ANNO=splicing:CCDC7
10	32762951	.	C	T	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:CCDC7:NM_145023:exon9:c.C796T:p.Q266X,CCDC7:NM_001026383:exon9:c.C796T:p.Q266X,;ANNO=splicing:CCDC7
10	32807434	.	G	T	100	PASS	AC=1832;STUDIES=18;MAC=1832;MAF=0.087;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC7(NM_145023:c.993+1G>T,NM_001026383:c.993+1G>T)
10	33018261	.	G	A	100	PASS	AC=21;STUDIES=6;MAC=21;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C10orf68:NM_024688:exon10:c.G702A:p.T234T,;ANNO=splicing:C10orf68
10	33137522	.	A	G	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C10orf68(NM_024688:c.1501-2A>G)
10	33195991	.	G	A	100	PASS	AC=58;STUDIES=3;MAC=58;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ITGB1
10	35485028	.	G	T	100	PASS	AC=28;STUDIES=4;MAC=28;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:CREM(NM_182721:c.37+1G>T,NM_182724:c.37+1G>T)
10	35772405	.	C	T	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:CCNY:NM_145012:exon2:c.C228T:p.D76D,CCNY:NM_181698:exon4:c.C66T:p.D22D,;ANNO=splicing:CCNY
10	35805452	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCNY:NM_145012:exon4:c.A266G:p.H89R,CCNY:NM_181698:exon6:c.A104G:p.H35R,;ANNO=splicing:CCNY
10	35894560	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GJD4(NM_153368:c.64+1G>A)
10	37433983	.	G	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ANKRD30A:NM_052997:exon8:c.G1286T:p.R429L,;ANNO=splicing:ANKRD30A
10	37442591	.	G	T	100	PASS	AC=120;STUDIES=5;MAC=120;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:ANKRD30A(NM_052997:c.1630+1G>T)
10	37451705	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ANKRD30A:NM_052997:exon17:c.C1763A:p.P588H,;ANNO=splicing:ANKRD30A
10	37454022	.	A	T	100	PASS	AC=47;STUDIES=11;MAC=47;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ANKRD30A:NM_052997:exon18:c.A1835T:p.D612V,;ANNO=splicing:ANKRD30A
10	37481991	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:ANKRD30A(NM_052997:c.2344-1G>A)
10	37481992	.	A	G	100	PASS	AC=32;STUDIES=7;MAC=32;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ANKRD30A:NM_052997:exon26:c.A2345G:p.E782G,;ANNO=splicing:ANKRD30A
10	37482114	.	G	T	100	PASS	AC=28;STUDIES=6;MAC=28;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:ANKRD30A:NM_052997:exon27:c.G2374T:p.A792S,;ANNO=splicing:ANKRD30A
10	38126639	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF248:NM_021045:exon5:c.G144A:p.G48G,;ANNO=splicing:ZNF248
10	43288591	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:BMS1:NM_014753:exon8:c.A1088G:p.Q363R,;ANNO=splicing:BMS1
10	43609122	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RET:NM_020975:exon10:c.G1878A:p.Q626Q,RET:NM_020630:exon10:c.G1878A:p.Q626Q,;ANNO=splicing:RET
10	43671399	.	G	A	100	PASS	AC=71;STUDIES=8;MAC=71;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CSGALNACT2:NM_018590:exon7:c.G1255A:p.V419I,;ANNO=splicing:CSGALNACT2
10	43869097	.	C	A	100	PASS	AC=649;STUDIES=3;MAC=649;MAF=0.313;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FXYD4
10	43869950	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FXYD4:NM_001184963:exon4:c.G70C:p.A24P,FXYD4:NM_173160:exon4:c.G70C:p.A24P,;ANNO=splicing:FXYD4
10	44871479	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CXCL12:NM_001033886:exon4:c.G268A:p.G90R,;ANNO=splicing:CXCL12
10	45495863	.	G	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C10orf25:NM_001039380:exon2:c.C332A:p.A111D,;ANNO=splicing:C10orf25
10	46111039	.	T	C	100	PASS	AC=93;STUDIES=2;MAC=93;MAF=0.048;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ANUBL1
10	46121398	.	C	A	100	PASS	AC=37;STUDIES=10;MAC=37;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANUBL1(NM_001128324:c.1872+1G>T,NM_174890:c.1872+1G>T)
10	46242094	.	A	G	100	PASS	AC=139;STUDIES=5;MAC=139;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:FAM21C:NM_001169106:exon8:c.A731G:p.Q244R,FAM21C:NM_015262:exon8:c.A731G:p.Q244R,FAM21C:NM_001169107:exon8:c.A731G:p.Q244R,;ANNO=splicing:FAM21C
10	46250563	.	C	G	100	PASS	AC=75;STUDIES=4;MAC=75;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:FAM21C:NM_001169106:exon15:c.C1420G:p.R474G,FAM21C:NM_015262:exon15:c.C1420G:p.R474G,FAM21C:NM_001169107:exon14:c.C1348G:p.R450G,;ANNO=splicing:FAM21C
10	46280957	.	G	T	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:FAM21C:NM_015262:exon26:c.G2689T:p.V897L,FAM21C:NM_001169107:exon24:c.G2464T:p.V822L,;ANNO=splicing:FAM21C
10	46282696	.	G	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:FAM21C(NM_015262:c.3024+1G>A,NM_001169107:c.2799+1G>A,NM_001169106:c.2901+1G>A)
10	46587495	.	T	C	100	PASS	AC=20;STUDIES=2;MAC=20;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:PTPN20B:NM_001042361:exon5:c.A314G:p.D105G,PTPN20A:NM_001042393:exon5:c.A314G:p.D105G,PTPN20B:NM_001042358:exon5:c.A314G:p.D105G,PTPN20A:NM_001042395:exon5:c.A98G:p.D33G,PTPN20A:NM_001042390:exon5:c.A314G:p.D105G,PTPN20B:NM_001042359:exon5:c.A314G:p.D105G,PTPN20A:NM_001042396:exon4:c.A98G:p.D33G,PTPN20B:NM_015605:exon6:c.A341G:p.D114G,PTPN20A:NM_001042387:exon6:c.A341G:p.D114G,PTPN20B:NM_001042364:exon4:c.A98G:p.D33G,PTPN20A:NM_001042391:exon5:c.A314G:p.D105G,PTPN20B:NM_001042363:exon5:c.A98G:p.D33G,PTPN20A:NM_001042389:exon5:c.A341G:p.D114G,PTPN20B:NM_001042357:exon5:c.A341G:p.D114G,;ANNO=splicing:PTPN20A,PTPN20B
10	46998873	.	A	C	100	PASS	AC=20;STUDIES=2;MAC=20;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GPRIN2
10	47207813	.	T	C	100	PASS	AC=72;STUDIES=3;MAC=72;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:AGAP9:NM_001190810:exon4:c.A395G:p.H132R,;ANNO=splicing:AGAP9
10	49376637	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:FRMPD2(NM_001018071:c.3537+1G>A)
10	49392607	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FRMPD2(NM_001018071:c.2584+2T>C)
10	49393688	.	C	A	100	PASS	AC=154;STUDIES=18;MAC=154;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FRMPD2:NM_001018071:exon18:c.G2267T:p.G756V,;ANNO=splicing:FRMPD2
10	49414975	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FRMPD2:NM_001018071:exon14:c.T1613C:p.V538A,;ANNO=splicing:FRMPD2
10	49430493	.	G	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FRMPD2:NM_001018071:exon12:c.C1318A:p.H440N,;ANNO=splicing:FRMPD2
10	49459610	.	G	A	100	PASS	AC=629;STUDIES=14;MAC=629;MAF=0.038;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FRMPD2:NM_001018071:exon2:c.C150T:p.N50N,;ANNO=splicing:FRMPD2
10	49612896	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAPK8:NM_002750:exon2:c.G124A:p.A42T,MAPK8:NM_139046:exon2:c.G124A:p.A42T,MAPK8:NM_139047:exon2:c.G124A:p.A42T,MAPK8:NM_139049:exon2:c.G124A:p.A42T,;ANNO=splicing:MAPK8
10	50369666	.	G	A	100	PASS	AC=53;STUDIES=13;MAC=53;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:C10orf128:NM_001010863:exon5:c.C271T:p.R91X,;ANNO=splicing:C10orf128
10	50680422	.	C	T	100	PASS	AC=29;STUDIES=9;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ERCC6:NM_000124:exon16:c.G2924A:p.R975Q,;ANNO=splicing:ERCC6
10	50701164	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:ERCC6:NM_000124:exon8:c.A1820T:p.K607M,;ANNO=nonsynonymous:ERCC6:NM_000124:exon8:c.A1820G:p.K607R,;ANNO=splicing:ERCC6;ANNO=splicing:ERCC6
10	50856652	.	G	A	100	PASS	AC=23257;STUDIES=21;MAC=449;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:CHAT:NM_001142929:exon9:c.G1027A:p.V343M,CHAT:NM_020984:exon9:c.G1027A:p.V343M,CHAT:NM_020986:exon9:c.G1027A:p.V343M,CHAT:NM_001142933:exon10:c.G1135A:p.V379M,CHAT:NM_020985:exon10:c.G1027A:p.V343M,CHAT:NM_001142934:exon10:c.G1027A:p.V343M,CHAT:NM_020549:exon9:c.G1381A:p.V461M,;ANNO=splicing:CHAT
10	50901938	.	C	T	100	PASS	AC=10470;STUDIES=22;MAC=10470;MAF=0.438;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C10orf53:NM_182554:exon2:c.C216T:p.F72F,C10orf53:NM_001042427:exon2:c.C216T:p.F72F,;ANNO=splicing:C10orf53
10	50946307	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OGDHL:NM_001143996:exon17:c.G2150A:p.G717D,OGDHL:NM_001143997:exon16:c.G1694A:p.G565D,OGDHL:NM_018245:exon18:c.G2321A:p.G774D,;ANNO=splicing:OGDHL
10	50966434	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:OGDHL(NM_001143996:c.204+1G>A,NM_018245:c.204+1G>A)
10	51586410	.	A	C	100	PASS	AC=30;STUDIES=6;MAC=30;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:NCOA4:NM_001145261:exon10:c.A1886C:p.Q629P,NCOA4:NM_005437:exon9:c.A1838C:p.Q613P,NCOA4:NM_001145260:exon10:c.A1886C:p.Q629P,NCOA4:NM_001145263:exon9:c.A1838C:p.Q613P,NCOA4:NM_001145262:exon9:c.A1838C:p.Q613P,;ANNO=splicing:NCOA4
10	51847081	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:FAM21B:NM_018232:exon6:c.G467A:p.R156Q,FAM21A:NM_001005751:exon8:c.G731A:p.R244Q,;ANNO=splicing:FAM21A,FAM21B
10	52350006	.	C	T	100	PASS	AC=334;STUDIES=2;MAC=334;MAF=0.169;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:SGMS1
10	52502769	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:ASAH2B:NM_001079516:exon2:c.C85T:p.R29C,;ANNO=splicing:ASAH2B
10	55849744	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PCDH15:NM_001142767:exon15:c.C1886T:p.T629I,PCDH15:NM_001142773:exon15:c.C1931T:p.T644I,PCDH15:NM_001142772:exon16:c.C1997T:p.T666I,PCDH15:NM_001142766:exon16:c.C1997T:p.T666I,PCDH15:NM_001142769:exon18:c.C2033T:p.T678I,PCDH15:NM_033056:exon16:c.C1997T:p.T666I,PCDH15:NM_001142768:exon15:c.C1931T:p.T644I,PCDH15:NM_001142771:exon17:c.C2012T:p.T671I,PCDH15:NM_001142763:exon17:c.C2012T:p.T671I,PCDH15:NM_001142764:exon16:c.C1997T:p.T666I,PCDH15:NM_001142770:exon16:c.C1997T:p.T666I,;ANNO=splicing:PCDH15
10	55949144	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PCDH15:NM_001142769:exon13:c.G1321A:p.V441I,;ANNO=splicing:PCDH15
10	55955444	.	T	G	100	PASS	AC=3702;STUDIES=21;MAC=3702;MAF=0.164;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:PCDH15:NM_001142767:exon10:c.A1193C:p.D398A,PCDH15:NM_001142765:exon11:c.A1304C:p.D435A,PCDH15:NM_001142773:exon10:c.A1238C:p.D413A,PCDH15:NM_001142772:exon11:c.A1304C:p.D435A,PCDH15:NM_001142766:exon11:c.A1304C:p.D435A,PCDH15:NM_001142769:exon12:c.A1319C:p.D440A,PCDH15:NM_033056:exon11:c.A1304C:p.D435A,PCDH15:NM_001142768:exon10:c.A1238C:p.D413A,PCDH15:NM_001142771:exon12:c.A1319C:p.D440A,PCDH15:NM_001142763:exon12:c.A1319C:p.D440A,PCDH15:NM_001142764:exon11:c.A1304C:p.D435A,PCDH15:NM_001142770:exon11:c.A1304C:p.D435A,;ANNO=splicing:PCDH15
10	58121034	.	C	A	100	PASS	AC=216;STUDIES=8;MAC=216;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=splicing:ZWINT
10	59986805	.	G	A	100	PASS	AC=233;STUDIES=19;MAC=233;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:IPMK:NM_152230:exon3:c.C372T:p.N124N,;ANNO=splicing:IPMK
10	60577322	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:BICC1:NM_001080512:exon19:c.C2534A:p.T845K,;ANNO=nonsynonymous:BICC1:NM_001080512:exon19:c.C2534T:p.T845M,;ANNO=splicing:BICC1;ANNO=splicing:BICC1
10	61004817	.	A	C	100	PASS	AC=21;STUDIES=6;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PHYHIPL:NM_001143774:exon5:c.A519C:p.R173R,PHYHIPL:NM_032439:exon5:c.A597C:p.R199R,;ANNO=splicing:PHYHIPL
10	61007534	.	A	G	100	PASS	AC=5071;STUDIES=8;MAC=977;MAF=0.162;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=splicing:PHYHIPL
10	61029657	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM13C(NM_001143773:c.554+2T>G,NM_001166698:c.554+2T>G,NM_198215:c.803+2T>G,NM_001001971:c.803+2T>G)
10	61894030	.	T	G	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ANK3:NM_020987:exon25:c.A2840C:p.Q947P,ANK3:NM_001204404:exon26:c.A2843C:p.Q948P,ANK3:NM_001149:exon3:c.A242C:p.Q81P,ANK3:NM_001204403:exon26:c.A2822C:p.Q941P,;ANNO=splicing:ANK3
10	61926653	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ANK3:NM_020987:exon22:c.C2480A:p.T827N,ANK3:NM_001204404:exon22:c.C2429A:p.T810N,ANK3:NM_001204403:exon23:c.C2462A:p.T821N,;ANNO=splicing:ANK3
10	61941088	.	T	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ANK3:NM_020987:exon18:c.A2183T:p.K728M,ANK3:NM_001204404:exon18:c.A2132T:p.K711M,ANK3:NM_001204403:exon19:c.A2165T:p.K722M,;ANNO=splicing:ANK3
10	62645987	.	G	A	100	PASS	AC=24;STUDIES=7;MAC=24;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RHOBTB1:NM_001242359:exon8:c.C1458T:p.D486D,RHOBTB1:NM_014836:exon7:c.C1458T:p.D486D,;ANNO=splicing:RHOBTB1
10	62647971	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RHOBTB1:NM_001242359:exon7:c.G1455C:p.S485S,RHOBTB1:NM_014836:exon6:c.G1455C:p.S485S,;ANNO=splicing:RHOBTB1
10	63190977	.	C	T	100	PASS	AC=16;STUDIES=10;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TMEM26:NM_178505:exon3:c.G384A:p.T128T,;ANNO=splicing:TMEM26
10	63190978	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM26:NM_178505:exon3:c.C383T:p.T128M,;ANNO=splicing:TMEM26
10	63450379	.	G	A	100	PASS	AC=331;STUDIES=18;MAC=331;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C10orf107:NM_173554:exon4:c.G288A:p.E96E,;ANNO=splicing:C10orf107
10	63995826	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RTKN2:NM_145307:exon6:c.T685C:p.F229L,;ANNO=splicing:RTKN2
10	64414690	.	G	T	100	PASS	AC=38;STUDIES=6;MAC=38;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF365:NM_199452:exon3:c.G126T:p.K42N,;ANNO=splicing:ZNF365
10	64911911	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=synonymous:NRBF2:NM_030759:exon3:c.A117C:p.A39A,;ANNO=synonymous:NRBF2:NM_030759:exon3:c.A117G:p.A39A,;ANNO=splicing:NRBF2;ANNO=splicing:NRBF2
10	64911911	.	A	G	100	PASS	AC=560;STUDIES=6;MAC=560;MAF=0.066;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;HWE_FAILURES=2;ANNO=synonymous:NRBF2:NM_030759:exon3:c.A117C:p.A39A,;ANNO=synonymous:NRBF2:NM_030759:exon3:c.A117G:p.A39A,;ANNO=splicing:NRBF2;ANNO=splicing:NRBF2
10	65379416	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:REEP3:NM_001001330:exon7:c.T567C:p.G189G,;ANNO=splicing:REEP3
10	67829067	.	T	G	100	PASS	AC=23;STUDIES=8;MAC=23;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CTNNA3:NM_013266:exon15:c.A2158C:p.R720R,CTNNA3:NM_001127384:exon15:c.A2158C:p.R720R,;ANNO=splicing:CTNNA3
10	68940075	.	G	A	100	PASS	AC=96;STUDIES=7;MAC=96;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CTNNA3:NM_013266:exon7:c.C1047T:p.N349N,CTNNA3:NM_001127384:exon7:c.C1047T:p.N349N,;ANNO=splicing:CTNNA3
10	69905283	.	G	A	100	PASS	AC=21;STUDIES=10;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYPN:NM_032578:exon4:c.G1130A:p.R377Q,;ANNO=splicing:MYPN
10	69966659	.	C	T	100	PASS	AC=18;STUDIES=6;MAC=18;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MYPN:NM_032578:exon19:c.C3792T:p.Y1264Y,;ANNO=splicing:MYPN
10	70045105	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PBLD:NM_001033083:exon9:c.G754A:p.G252S,PBLD:NM_022129:exon9:c.G754A:p.A252T,;ANNO=splicing:PBLD
10	70101436	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HNRNPH3:NM_012207:exon8:c.G870C:p.M290I,HNRNPH3:NM_021644:exon8:c.G825C:p.M275I,;ANNO=splicing:HNRNPH3
10	70210004	.	C	A	100	PASS	AC=26;STUDIES=5;MAC=26;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DNA2:NM_001080449:exon6:c.G720T:p.L240L,;ANNO=splicing:DNA2
10	70646373	.	C	T	100	PASS	AC=47;STUDIES=12;MAC=47;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STOX1:NM_152709:exon3:c.C2821T:p.R941W,STOX1:NM_001130162:exon3:c.C2491T:p.R831W,STOX1:NM_001130161:exon3:c.C2821T:p.R941W,;ANNO=splicing:STOX1
10	70652345	.	G	A	100	PASS	AC=17;STUDIES=4;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STOX1:NM_001130160:exon3:c.G464A:p.G155E,STOX1:NM_001130159:exon4:c.G664A:p.D222N,;ANNO=splicing:STOX1
10	70760278	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA1279:NM_015634:exon2:c.G525C:p.E175D,;ANNO=splicing:KIAA1279
10	70958952	.	T	C	100	PASS	AC=27;STUDIES=6;MAC=27;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SUPV3L1:NM_003171:exon10:c.T1297C:p.L433L,;ANNO=splicing:SUPV3L1
10	71003123	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HKDC1(NM_025130:c.875+2T>C)
10	71010407	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HKDC1:NM_025130:exon12:c.A1835G:p.K612R,;ANNO=splicing:HKDC1
10	71265881	.	G	A	100	PASS	AC=85;STUDIES=7;MAC=85;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TSPAN15:NM_012339:exon7:c.G620A:p.R207H,;ANNO=splicing:TSPAN15
10	71647247	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:COL13A1:NM_080802:exon7:c.G522A:p.P174P,COL13A1:NM_080800:exon7:c.G522A:p.P174P,COL13A1:NM_080798:exon4:c.G408A:p.P136P,COL13A1:NM_080801:exon7:c.G522A:p.P174P,COL13A1:NM_001130103:exon7:c.G522A:p.P174P,COL13A1:NM_080805:exon5:c.G435A:p.P145P,;ANNO=splicing:COL13A1
10	71690307	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL13A1:NM_080802:exon28:c.C1583T:p.P528L,COL13A1:NM_080800:exon28:c.C1592T:p.P531L,COL13A1:NM_080798:exon25:c.C1478T:p.P493L,COL13A1:NM_080801:exon28:c.C1583T:p.P528L,COL13A1:NM_001130103:exon29:c.C1649T:p.P550L,COL13A1:NM_080805:exon26:c.C1496T:p.P499L,;ANNO=splicing:COL13A1
10	71695147	.	G	A	100	PASS	AC=69;STUDIES=13;MAC=69;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL13A1:NM_080802:exon29:c.G1626A:p.P542P,COL13A1:NM_080800:exon30:c.G1680A:p.P560P,COL13A1:NM_080798:exon26:c.G1521A:p.P507P,COL13A1:NM_080801:exon30:c.G1671A:p.P557P,COL13A1:NM_001130103:exon31:c.G1737A:p.P579P,COL13A1:NM_080805:exon27:c.G1539A:p.P513P,;ANNO=splicing:COL13A1
10	71697471	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL13A1:NM_080802:exon31:c.C1734T:p.P578P,COL13A1:NM_080800:exon32:c.C1788T:p.P596P,COL13A1:NM_080798:exon28:c.C1629T:p.P543P,COL13A1:NM_080801:exon32:c.C1779T:p.P593P,COL13A1:NM_001130103:exon33:c.C1845T:p.P615P,COL13A1:NM_080805:exon29:c.C1647T:p.P549P,;ANNO=splicing:COL13A1
10	71868790	.	C	T	100	PASS	AC=136;STUDIES=12;MAC=136;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:H2AFY2:NM_018649:exon8:c.C780T:p.A260A,;ANNO=splicing:H2AFY2
10	71874085	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AIFM2:NM_001198696:exon9:c.G971A:p.G324D,AIFM2:NM_032797:exon9:c.G971A:p.G324D,;ANNO=splicing:AIFM2
10	71880966	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AIFM2:NM_001198696:exon4:c.C296T:p.A99V,AIFM2:NM_032797:exon4:c.C296T:p.A99V,;ANNO=splicing:AIFM2
10	71883662	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AIFM2(NM_032797:c.178+1G>A,NM_001198696:c.178+1G>A)
10	71883664	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AIFM2:NM_001198696:exon2:c.A177G:p.T59T,AIFM2:NM_032797:exon2:c.A177G:p.T59T,;ANNO=splicing:AIFM2
10	72026149	.	T	C	100	PASS	AC=37;STUDIES=6;MAC=37;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NPFFR1(NM_022146:c.7-2A>G)
10	72492011	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ADAMTS14:NM_080722:exon7:c.G1104A:p.G368G,ADAMTS14:NM_139155:exon7:c.G1113A:p.G371G,;ANNO=splicing:ADAMTS14
10	72503305	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ADAMTS14:NM_080722:exon13:c.C1926T:p.D642D,ADAMTS14:NM_139155:exon13:c.C1935T:p.D645D,;ANNO=splicing:ADAMTS14
10	72536909	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C10orf27:NM_152710:exon7:c.G690A:p.L230L,;ANNO=splicing:C10orf27
10	72538394	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C10orf27(NM_152710:c.427-2A>G)
10	73039801	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:UNC5B:NM_170744:exon2:c.C303T:p.T101T,;ANNO=splicing:UNC5B
10	73046625	.	C	T	100	PASS	AC=1177;STUDIES=21;MAC=1177;MAF=0.051;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UNC5B:NM_170744:exon5:c.C732T:p.Y244Y,;ANNO=splicing:UNC5B
10	73046626	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:UNC5B:NM_170744:exon5:c.G733A:p.V245M,;ANNO=splicing:UNC5B
10	73053458	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UNC5B:NM_170744:exon13:c.A1943G:p.E648G,;ANNO=splicing:UNC5B
10	73587913	.	T	C	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PSAP:NM_001042465:exon6:c.A578G:p.D193G,PSAP:NM_002778:exon6:c.A578G:p.D193G,PSAP:NM_001042466:exon6:c.A578G:p.D193G,;ANNO=splicing:PSAP
10	73587914	.	C	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PSAP:NM_001042465:exon6:c.G577C:p.D193H,PSAP:NM_002778:exon6:c.G577C:p.D193H,PSAP:NM_001042466:exon6:c.G577C:p.D193H,;ANNO=splicing:PSAP
10	73827371	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPOCK2:NM_014767:exon8:c.G709A:p.G237R,;ANNO=splicing:SPOCK2
10	73892939	.	C	A	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ASCC1:NM_015947:exon8:c.G747T:p.R249S,ASCC1:NM_001198800:exon8:c.G747T:p.R249S,ASCC1:NM_001198798:exon8:c.G747T:p.R249S,ASCC1:NM_001198799:exon9:c.G831T:p.R277S,;ANNO=splicing:ASCC1
10	73975593	.	T	C	100	PASS	AC=83;STUDIES=2;MAC=83;MAF=0.042;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ASCC1
10	74671476	.	C	T	100	PASS	AC=115;STUDIES=8;MAC=115;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:OIT3:NM_152635:exon5:c.C669T:p.D223D,;ANNO=splicing:OIT3
10	74874205	.	C	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NUDT13:NM_015901:exon2:c.C82G:p.R28G,;ANNO=splicing:NUDT13
10	74884077	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NUDT13:NM_015901:exon5:c.C464T:p.T155M,;ANNO=splicing:NUDT13
10	74884078	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NUDT13:NM_015901:exon5:c.G465A:p.T155T,;ANNO=splicing:NUDT13
10	74885268	.	G	A	100	PASS	AC=38;STUDIES=4;MAC=38;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NUDT13(NM_015901:c.703+1G>A)
10	74897827	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ECD:NM_001135753:exon11:c.G1294A:p.E432K,ECD:NM_001135752:exon13:c.G1522A:p.E508K,ECD:NM_007265:exon12:c.G1423A:p.E475K,;ANNO=splicing:ECD
10	74906034	.	C	A	100	PASS	AC=17;STUDIES=9;MAC=17;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ECD:NM_001135753:exon8:c.G998T:p.S333I,ECD:NM_001135752:exon9:c.G1127T:p.R376M,ECD:NM_007265:exon9:c.G1127T:p.S376I,;ANNO=splicing:ECD
10	74914015	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:ECD:NM_001135753:exon6:c.C782T:p.S261L,ECD:NM_001135752:exon6:c.C782T:p.S261L,ECD:NM_007265:exon6:c.C782T:p.S261L,;ANNO=stopgain:ECD:NM_001135753:exon6:c.C782A:p.S261X,ECD:NM_001135752:exon6:c.C782A:p.S261X,ECD:NM_007265:exon6:c.C782A:p.S261X,;ANNO=splicing:ECD;ANNO=splicing:ECD
10	75113313	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTC18(NM_145170:c.250+1G>C)
10	75139789	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ANXA7:NM_001156:exon10:c.G1089A:p.R363R,ANXA7:NM_004034:exon11:c.G1155A:p.R385R,;ANNO=splicing:ANXA7
10	75139961	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANXA7(NM_004034:c.984-2A>G,NM_001156:c.918-2A>G)
10	75506761	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SEC24C:NM_198597:exon2:c.A171G:p.Q57Q,SEC24C:NM_004922:exon3:c.A171G:p.Q57Q,;ANNO=splicing:SEC24C
10	75529374	.	A	G	100	PASS	AC=9;STUDIES=8;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SEC24C:NM_198597:exon19:c.A2565G:p.A855A,SEC24C:NM_004922:exon20:c.A2565G:p.A855A,;ANNO=splicing:SEC24C
10	75529594	.	T	C	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SEC24C:NM_198597:exon20:c.T2683C:p.L895L,SEC24C:NM_004922:exon21:c.T2683C:p.L895L,;ANNO=splicing:SEC24C
10	75549297	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIAA0913:NM_001242487:exon4:c.C630T:p.N210N,KIAA0913:NM_015037:exon4:c.C630T:p.N210N,KIAA0913:NM_001242488:exon4:c.C630T:p.N210N,;ANNO=splicing:KIAA0913
10	75608285	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CAMK2G:NM_172169:exon8:c.C600T:p.C200C,CAMK2G:NM_172171:exon8:c.C600T:p.C200C,CAMK2G:NM_172170:exon8:c.C600T:p.C200C,CAMK2G:NM_001204492:exon8:c.C600T:p.C200C,CAMK2G:NM_172173:exon8:c.C600T:p.C200C,CAMK2G:NM_001222:exon8:c.C600T:p.C200C,;ANNO=splicing:CAMK2G
10	75671685	.	T	C	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C10orf55:NM_001001791:exon5:c.A214G:p.T72A,;ANNO=splicing:PLAU(NM_001145031:c.34+2T>C)
10	75854218	.	C	T	100	PASS	AC=34;STUDIES=4;MAC=34;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:VCL:NM_014000:exon11:c.C1542T:p.V514V,VCL:NM_003373:exon11:c.C1542T:p.V514V,;ANNO=splicing:VCL
10	76857470	.	G	T	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DUSP13:NM_016364:exon2:c.C173A:p.A58E,DUSP13:NM_001007272:exon2:c.C323A:p.A108E,DUSP13:NM_001007273:exon4:c.C452A:p.A151E,;ANNO=splicing:DUSP13
10	76924403	.	C	T	100	PASS	AC=89;STUDIES=8;MAC=89;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SAMD8:NM_001174156:exon3:c.C579T:p.S193S,SAMD8:NM_144660:exon3:c.C579T:p.S193S,;ANNO=splicing:SAMD8
10	79552300	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DLG5:NM_004747:exon32:c.G5658A:p.G1886G,;ANNO=splicing:DLG5
10	79579222	.	G	A	100	PASS	AC=6119;STUDIES=22;MAC=6119;MAF=0.253;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DLG5:NM_004747:exon17:c.C3528T:p.G1176G,;ANNO=splicing:DLG5
10	79579775	.	T	G	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DLG5:NM_004747:exon16:c.A3404C:p.E1135A,;ANNO=splicing:DLG5
10	79589287	.	C	T	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DLG5:NM_004747:exon12:c.G2011A:p.V671I,;ANNO=splicing:DLG5
10	79593797	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DLG5:NM_004747:exon9:c.G1623T:p.R541R,;ANNO=splicing:DLG5
10	79745830	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:POLR3A(NM_007055:c.2988+1G>T)
10	79753125	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:POLR3A:NM_007055:exon20:c.C2617T:p.R873X,;ANNO=splicing:POLR3A
10	79799959	.	C	A	100	PASS	AC=763;STUDIES=12;MAC=763;MAF=0.054;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:RPS24:NM_001142282:exon5:c.C391A:p.Q131K,;ANNO=splicing:RPS24
10	79799984	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RPS24(NM_033022:c.412+1G>A,NM_001142282:c.415+1G>A,NM_001142283:c.433+1G>A,NM_001142284:c.430+1G>A)
10	79800374	.	C	T	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:RPS24:NM_001026:exon5:c.C392G:p.P131R,;ANNO=nonsynonymous:RPS24:NM_001026:exon5:c.C392T:p.P131L,;ANNO=splicing:RPS24;ANNO=splicing:RPS24
10	81037082	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZMIZ1:NM_020338:exon8:c.G425A:p.S142N,;ANNO=splicing:ZMIZ1
10	81057446	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZMIZ1:NM_020338:exon14:c.G1490A:p.R497K,;ANNO=splicing:ZMIZ1
10	81058336	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZMIZ1:NM_020338:exon15:c.A1665G:p.P555P,;ANNO=splicing:ZMIZ1
10	81838541	.	C	G	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C10orf57:NM_025125:exon1:c.C86G:p.T29R,;ANNO=splicing:C10orf57
10	81841960	.	A	G	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C10orf57:NM_025125:exon3:c.A251G:p.K84R,;ANNO=splicing:C10orf57
10	81850554	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C10orf57:NM_025125:exon4:c.C253T:p.H85Y,;ANNO=splicing:C10orf57
10	81904657	.	T	C	100	PASS	AC=14;STUDIES=6;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:PLAC9:NM_001012973:exon4:c.T285C:p.D95D,;ANNO=splicing:PLAC9
10	82122705	.	A	G	100	PASS	AC=104;STUDIES=7;MAC=104;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DYDC2(NM_032372:c.147-2A>G)
10	82269058	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TSPAN14:NM_030927:exon5:c.T281C:p.F94S,;ANNO=splicing:TSPAN14
10	83637775	.	C	G	100	PASS	AC=820;STUDIES=8;MAC=820;MAF=0.113;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NRG3:NM_001165973:exon1:c.C59G:p.T20R,;ANNO=splicing:NRG3
10	84738707	.	A	C	100	PASS	AC=28;STUDIES=4;MAC=28;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NRG3:NM_001165973:exon9:c.A751C:p.S251R,NRG3:NM_001010848:exon8:c.A1414C:p.S472R,NRG3:NM_001165972:exon8:c.A1411C:p.S471R,;ANNO=splicing:NRG3
10	85962879	.	G	A	100	PASS	AC=70;STUDIES=15;MAC=70;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CDHR1:NM_001171971:exon8:c.G783A:p.P261P,CDHR1:NM_033100:exon8:c.G783A:p.P261P,;ANNO=splicing:CDHR1
10	86007502	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RGR:NM_001012720:exon2:c.C235T:p.R79W,RGR:NM_002921:exon2:c.C235T:p.R79C,RGR:NM_001012722:exon2:c.C235T:p.R79W,;ANNO=splicing:RGR
10	86237331	.	G	A	100	PASS	AC=301;STUDIES=8;MAC=301;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM190B:NM_018999:exon9:c.G2236A:p.A746T,;ANNO=splicing:FAM190B
10	88126072	.	G	A	100	PASS	AC=2459;STUDIES=12;MAC=2459;MAF=0.241;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=6;ANNO=synonymous:GRID1:NM_017551:exon1:c.C78T:p.I26I,;ANNO=splicing:GRID1
10	88213414	.	A	G	100	PASS	AC=52;STUDIES=12;MAC=52;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:WAPAL:NM_015045:exon13:c.T2832C:p.N944N,;ANNO=splicing:WAPAL
10	88419053	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:OPN4(NM_033282:c.628-1G>A,NM_001030015:c.661-1G>A)
10	88719758	.	T	C	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SNCG:NM_003087:exon3:c.T164C:p.V55A,;ANNO=splicing:SNCG
10	88917806	.	T	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:FAM35A:NM_019054:exon4:c.T1527A:p.D509E,;ANNO=splicing:FAM35A
10	89468953	.	G	A	100	PASS	AC=363;STUDIES=21;MAC=363;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PAPSS2:NM_001015880:exon2:c.G28A:p.E10K,PAPSS2:NM_004670:exon2:c.G28A:p.E10K,;ANNO=splicing:PAPSS2
10	89473067	.	G	A	100	PASS	AC=54;STUDIES=2;MAC=54;MAF=0.062;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=synonymous:PAPSS2:NM_001015880:exon3:c.G381A:p.K127K,PAPSS2:NM_004670:exon3:c.G381A:p.K127K,;ANNO=nonsynonymous:PAPSS2:NM_001015880:exon3:c.G381C:p.K127N,PAPSS2:NM_004670:exon3:c.G381C:p.K127N,;ANNO=splicing:PAPSS2;ANNO=splicing:PAPSS2
10	89501127	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PAPSS2:NM_001015880:exon10:c.G1222A:p.D408N,PAPSS2:NM_004670:exon9:c.G1207A:p.D403N,;ANNO=splicing:PAPSS2
10	89530709	.	A	T	100	PASS	AC=20;STUDIES=7;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ATAD1:NM_032810:exon7:c.T780A:p.P260P,;ANNO=splicing:ATAD1
10	90341960	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RNLS:NM_018363:exon2:c.C223T:p.R75C,RNLS:NM_001031709:exon2:c.C223T:p.R75C,;ANNO=splicing:RNLS
10	90353900	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LIPJ:NM_001010939:exon5:c.A328G:p.S110G,;ANNO=splicing:LIPJ
10	90354423	.	G	C	100	PASS	AC=258;STUDIES=15;MAC=258;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LIPJ(NM_001010939:c.329-1G>C)
10	90433345	.	T	A	100	PASS	AC=2576;STUDIES=22;MAC=2576;MAF=0.106;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LIPF:NM_004190:exon7:c.T670A:p.F224I,LIPF:NM_001198830:exon8:c.T601A:p.F201I,LIPF:NM_001198828:exon7:c.T571A:p.F191I,LIPF:NM_001198829:exon8:c.T700A:p.F234I,;ANNO=splicing:LIPF
10	90433346	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:LIPF:NM_004190:exon7:c.T671A:p.F224Y,LIPF:NM_001198830:exon8:c.T602A:p.F201Y,LIPF:NM_001198828:exon7:c.T572A:p.F191Y,LIPF:NM_001198829:exon8:c.T701A:p.F234Y,;ANNO=splicing:LIPF
10	90486553	.	G	A	100	PASS	AC=47;STUDIES=15;MAC=47;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LIPK:NM_001080518:exon2:c.G107A:p.S36N,;ANNO=splicing:LIPK
10	90583035	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANKRD22(NM_144590:c.498+2T>G)
10	90699265	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ACTA2:NM_001141945:exon7:c.C807T:p.I269I,ACTA2:NM_001613:exon7:c.C807T:p.I269I,;ANNO=splicing:ACTA2
10	90982268	.	C	T	100	PASS	AC=15;STUDIES=9;MAC=15;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LIPA:NM_001127605:exon8:c.G894A:p.Q298Q,LIPA:NM_000235:exon8:c.G894A:p.Q298Q,;ANNO=splicing:LIPA
10	91163743	.	A	G	100	PASS	AC=72;STUDIES=2;MAC=72;MAF=0.036;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:IFIT1
10	91468925	.	C	G	100	PASS	AC=4459;STUDIES=21;MAC=4459;MAF=0.199;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:KIF20B:NM_016195:exon3:c.C149G:p.A50G,;ANNO=splicing:KIF20B
10	91498716	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KIF20B:NM_016195:exon21:c.T3658C:p.L1220L,;ANNO=splicing:KIF20B
10	91518638	.	T	C	100	PASS	AC=659;STUDIES=20;MAC=659;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIF20B:NM_016195:exon27:c.T4559C:p.I1520T,;ANNO=splicing:KIF20B
10	92678728	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ANKRD1:NM_014391:exon4:c.C347T:p.T116M,;ANNO=splicing:ANKRD1
10	93784724	.	G	A	100	PASS	AC=57;STUDIES=15;MAC=57;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BTAF1:NM_003972:exon35:c.G5075A:p.R1692Q,;ANNO=splicing:BTAF1
10	94608390	.	C	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EXOC6:NM_019053:exon1:c.C100A:p.R34R,;ANNO=splicing:EXOC6
10	94825713	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:CYP26C1:NM_183374:exon5:c.G862A:p.E288K,;ANNO=splicing:CYP26C1
10	95069777	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYOF:NM_133337:exon52:c.G6108A:p.P2036P,MYOF:NM_013451:exon53:c.G6147A:p.P2049P,;ANNO=splicing:MYOF
10	95076470	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYOF(NM_013451:c.5698+1G>A,NM_133337:c.5659+1G>A)
10	95076472	.	C	G	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYOF:NM_133337:exon49:c.G5658C:p.L1886F,MYOF:NM_013451:exon50:c.G5697C:p.L1899F,;ANNO=splicing:MYOF
10	95113644	.	T	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:MYOF:NM_133337:exon31:c.A3366T:p.R1122S,MYOF:NM_013451:exon32:c.A3405T:p.R1135S,;ANNO=splicing:MYOF
10	95119589	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYOF(NM_013451:c.3120+1G>A,NM_133337:c.3081+1G>A)
10	95123718	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYOF:NM_133337:exon26:c.G2829A:p.A943A,MYOF:NM_013451:exon27:c.G2868A:p.A956A,;ANNO=splicing:MYOF
10	95276692	.	G	A	100	PASS	AC=494;STUDIES=12;MAC=494;MAF=0.032;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CEP55:NM_018131:exon6:c.G680A:p.G227D,CEP55:NM_001127182:exon6:c.G680A:p.G227D,;ANNO=splicing:CEP55
10	95396821	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PDE6C(NM_006204:c.1482+1G>T)
10	95436447	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FRA10AC1:NM_145246:exon12:c.A789G:p.G263G,;ANNO=splicing:FRA10AC1
10	95452485	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FRA10AC1:NM_145246:exon6:c.G298A:p.E100K,;ANNO=splicing:FRA10AC1
10	95458153	.	C	G	100	PASS	AC=47;STUDIES=7;MAC=47;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FRA10AC1:NM_145246:exon3:c.G78C:p.R26S,;ANNO=splicing:FRA10AC1
10	96013948	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:PLCE1:NM_001165979:exon9:c.G2357C:p.G786A,PLCE1:NM_016341:exon10:c.G3281C:p.G1094A,;ANNO=nonsynonymous:PLCE1:NM_001165979:exon9:c.G2357T:p.G786V,PLCE1:NM_016341:exon10:c.G3281T:p.G1094V,;ANNO=splicing:PLCE1;ANNO=splicing:PLCE1
10	96013948	.	G	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:PLCE1:NM_001165979:exon9:c.G2357C:p.G786A,PLCE1:NM_016341:exon10:c.G3281C:p.G1094A,;ANNO=nonsynonymous:PLCE1:NM_001165979:exon9:c.G2357T:p.G786V,PLCE1:NM_016341:exon10:c.G3281T:p.G1094V,;ANNO=splicing:PLCE1;ANNO=splicing:PLCE1
10	96044722	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLCE1:NM_001165979:exon21:c.G4111C:p.G1371R,PLCE1:NM_016341:exon22:c.G5035C:p.G1679R,;ANNO=splicing:PLCE1
10	96098493	.	T	A	100	PASS	AC=383;STUDIES=13;MAC=383;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NOC3L:NM_022451:exon18:c.A1963T:p.T655S,;ANNO=splicing:NOC3L
10	96322448	.	G	A	100	PASS	AC=48;STUDIES=12;MAC=48;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HELLS:NM_018063:exon5:c.G334A:p.G112S,;ANNO=splicing:HELLS
10	96352271	.	C	T	100	PASS	AC=41;STUDIES=7;MAC=41;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HELLS:NM_018063:exon17:c.C1971T:p.N657N,;ANNO=splicing:HELLS
10	96454675	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:CYP2C18:NM_000772:exon4:c.C483T:p.A161A,CYP2C18:NM_001128925:exon4:c.C483T:p.A161A,;ANNO=splicing:CYP2C18
10	96522463	.	A	G	100	PASS	AC=54;STUDIES=13;MAC=54;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CYP2C19:NM_000769:exon1:c.A1G:p.M1V,;ANNO=splicing:CYP2C19
10	96535296	.	G	C	100	PASS	AC=136;STUDIES=10;MAC=136;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:CYP2C19:NM_000769:exon3:c.G481C:p.A161P,;ANNO=splicing:CYP2C19
10	96612671	.	A	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=stoploss:CYP2C19:NM_000769:exon9:c.A1473C:p.X491C,;ANNO=splicing:CYP2C19
10	96798795	.	C	T	100	PASS	AC=18;STUDIES=9;MAC=18;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CYP2C8:NM_000770:exon8:c.G1150A:p.G384S,CYP2C8:NM_001198853:exon8:c.G940A:p.G314S,CYP2C8:NM_001198854:exon7:c.G844A:p.G282S,CYP2C8:NM_001198855:exon9:c.G940A:p.G314S,;ANNO=splicing:CYP2C8
10	96805707	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:CYP2C8:NM_000770:exon6:c.A821G:p.E274G,CYP2C8:NM_001198853:exon6:c.A611G:p.E204G,CYP2C8:NM_001198854:exon5:c.A515G:p.E172G,CYP2C8:NM_001198855:exon7:c.A611G:p.E204G,;ANNO=splicing:CYP2C8
10	96805708	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=stopgain:CYP2C8:NM_000770:exon6:c.G820T:p.E274X,CYP2C8:NM_001198853:exon6:c.G610T:p.E204X,CYP2C8:NM_001198854:exon5:c.G514T:p.E172X,CYP2C8:NM_001198855:exon7:c.G610T:p.E204X,;ANNO=splicing:CYP2C8
10	96826966	.	C	T	100	PASS	AC=579;STUDIES=13;MAC=579;MAF=0.035;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:CYP2C8:NM_000770:exon3:c.G480A:p.K160K,CYP2C8:NM_001198853:exon3:c.G270A:p.K90K,CYP2C8:NM_001198854:exon2:c.G174A:p.K58K,CYP2C8:NM_001198855:exon4:c.G270A:p.K90K,;ANNO=splicing:CYP2C8
10	96828993	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CYP2C8:NM_000770:exon1:c.A167G:p.N56S,;ANNO=splicing:CYP2C8
10	97174413	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SORBS1:NM_001034954:exon7:c.G648A:p.Q216Q,SORBS1:NM_015385:exon8:c.G552A:p.Q184Q,SORBS1:NM_001034955:exon7:c.G648A:p.Q216Q,;ANNO=splicing:SORBS1(NM_001034956:c.441-1G>A)
10	97373724	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ALDH18A1:NM_001017423:exon14:c.A1794G:p.L598L,ALDH18A1:NM_002860:exon14:c.A1800G:p.L600L,;ANNO=splicing:ALDH18A1
10	97376235	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ALDH18A1:NM_001017423:exon13:c.T1598A:p.L533Q,ALDH18A1:NM_002860:exon13:c.T1604A:p.L535Q,;ANNO=splicing:ALDH18A1
10	97515523	.	G	A	100	PASS	AC=29;STUDIES=3;MAC=29;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ENTPD1:NM_001164178:exon1:c.G52A:p.E18K,;ANNO=splicing:ENTPD1
10	97987321	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BLNK:NM_013314:exon5:c.A206G:p.D69G,BLNK:NM_001114094:exon5:c.A206G:p.D69G,;ANNO=splicing:BLNK
10	98002539	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BLNK:NM_013314:exon3:c.C115T:p.L39L,BLNK:NM_001114094:exon3:c.C115T:p.L39L,;ANNO=splicing:BLNK
10	98006805	.	C	T	100	PASS	AC=418;STUDIES=12;MAC=418;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BLNK:NM_013314:exon2:c.G48A:p.R16R,BLNK:NM_001114094:exon2:c.G48A:p.R16R,;ANNO=splicing:BLNK
10	98092352	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DNTT:NM_004088:exon9:c.G1358A:p.R453Q,DNTT:NM_001017520:exon9:c.G1358A:p.R453Q,;ANNO=splicing:DNTT
10	98170230	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TLL2:NM_012465:exon9:c.G1050C:p.A350A,;ANNO=splicing:TLL2
10	98383229	.	C	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PIK3AP1:NM_152309:exon11:c.G1735A:p.G579R,;ANNO=splicing:PIK3AP1
10	98797456	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLIT1:NM_003061:exon22:c.G2365A:p.V789M,;ANNO=splicing:SLIT1
10	99079023	.	G	A	100	PASS	AC=1159;STUDIES=3;MAC=649;MAF=0.359;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:FRAT1
10	99133585	.	A	C	100	PASS	AC=104;STUDIES=2;MAC=104;MAF=0.096;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RRP12(NM_001145114:c.1680+2T>G,NM_015179:c.1863+2T>G)
10	99145652	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RRP12:NM_015179:exon9:c.G1116C:p.T372T,RRP12:NM_001145114:exon7:c.G933C:p.T311T,;ANNO=splicing:RRP12
10	99190891	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:PGAM1:NM_002629:exon3:c.G594A:p.E198E,;ANNO=splicing:PGAM1
10	99212680	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZDHHC16:NM_198043:exon5:c.C556T:p.P186S,ZDHHC16:NM_032327:exon5:c.C556T:p.P186S,ZDHHC16:NM_198046:exon6:c.C556T:p.P186S,ZDHHC16:NM_198045:exon4:c.C361T:p.P121S,;ANNO=splicing:ZDHHC16
10	99219416	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MMS19:NM_022362:exon27:c.G2739A:p.T913T,;ANNO=splicing:MMS19
10	99222439	.	T	C	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MMS19:NM_022362:exon20:c.A1913G:p.E638G,;ANNO=splicing:MMS19
10	99228162	.	G	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MMS19:NM_022362:exon13:c.C1065A:p.D355E,;ANNO=splicing:MMS19
10	99410698	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PI4K2A:NM_018425:exon2:c.A436G:p.R146G,;ANNO=splicing:PI4K2A
10	99422724	.	G	A	100	PASS	AC=135;STUDIES=19;MAC=135;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PI4K2A:NM_018425:exon5:c.G983A:p.R328Q,;ANNO=splicing:PI4K2A
10	99439673	.	C	G	100	PASS	AC=1078;STUDIES=9;MAC=1078;MAF=0.168;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AVPI1
10	99498234	.	G	A	100	PASS	AC=11643;STUDIES=18;MAC=9419;MAF=0.447;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ZFYVE27
10	99512938	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZFYVE27:NM_001002261:exon9:c.C1056T:p.F352F,ZFYVE27:NM_001174120:exon7:c.C762T:p.F254F,ZFYVE27:NM_001174121:exon7:c.C741T:p.F247F,ZFYVE27:NM_001174119:exon8:c.C924T:p.F308F,ZFYVE27:NM_001174122:exon6:c.C666T:p.F222F,ZFYVE27:NM_144588:exon10:c.C1041T:p.F347F,ZFYVE27:NM_001002262:exon9:c.C1020T:p.F340F,;ANNO=splicing:ZFYVE27
10	99656748	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CRTAC1:NM_018058:exon9:c.C1134T:p.R378R,CRTAC1:NM_001206528:exon9:c.C1134T:p.R378R,;ANNO=splicing:CRTAC1
10	99661261	.	G	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CRTAC1:NM_018058:exon8:c.C1132T:p.R378C,CRTAC1:NM_001206528:exon8:c.C1132T:p.R378C,;ANNO=splicing:CRTAC1
10	99683022	.	T	C	100	PASS	AC=88;STUDIES=12;MAC=88;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CRTAC1:NM_018058:exon4:c.A557G:p.K186R,CRTAC1:NM_001206528:exon4:c.A557G:p.K186R,;ANNO=splicing:CRTAC1
10	100152187	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PYROXD2(NM_032709:c.1062+2T>G)
10	100174765	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PYROXD2(NM_032709:c.127+1G>A)
10	100183511	.	G	T	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:HPS1:NM_000195:exon15:c.C1531T:p.R511W,;ANNO=synonymous:HPS1:NM_000195:exon15:c.C1531A:p.R511R,;ANNO=splicing:HPS1;ANNO=splicing:HPS1
10	101147759	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CNNM1:NM_020348:exon8:c.G2523A:p.P841P,;ANNO=splicing:CNNM1
10	101458292	.	T	C	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ENTPD7:NM_020354:exon10:c.T1012C:p.L338L,;ANNO=splicing:ENTPD7
10	101571360	.	G	A	100	PASS	AC=23;STUDIES=5;MAC=23;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCC2(NM_000392:c.1967+1G>A)
10	101814105	.	T	C	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CPN1:NM_001308:exon7:c.A1110G:p.S370S,;ANNO=splicing:CPN1
10	102003456	.	T	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CWF19L1:NM_018294:exon10:c.A1043G:p.H348R,;ANNO=splicing:CWF19L1
10	102013179	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:CWF19L1:NM_018294:exon6:c.C622T:p.R208X,;ANNO=splicing:CWF19L1
10	102021821	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CWF19L1(NM_018294:c.23-1G>C)
10	102057362	.	A	C	100	PASS	AC=78;STUDIES=2;MAC=78;MAF=0.173;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=3;ANNO=nonsynonymous:PKD2L1:NM_016112:exon5:c.T733G:p.W245G,;ANNO=splicing:PKD2L1
10	102088968	.	G	A	100	PASS	AC=56;STUDIES=6;MAC=56;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PKD2L1:NM_016112:exon2:c.C349T:p.L117L,;ANNO=splicing:PKD2L1
10	102250463	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SEC31B:NM_015490:exon20:c.G2650A:p.A884T,;ANNO=splicing:SEC31B
10	102257964	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SEC31B:NM_015490:exon15:c.A1685T:p.D562V,;ANNO=splicing:SEC31B
10	102286733	.	G	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:NDUFB8:NM_005004:exon3:c.C311T:p.P104L,;ANNO=splicing:NDUFB8
10	102738860	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SEMA4G:NM_001203244:exon8:c.G815A:p.G272E,SEMA4G:NM_017893:exon8:c.G815A:p.G272E,;ANNO=splicing:SEMA4G
10	102750193	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C10orf2:NM_001163813:exon3:c.G123A:p.R41R,C10orf2:NM_001163812:exon3:c.G1485A:p.R495R,C10orf2:NM_001163814:exon3:c.G123A:p.R41R,C10orf2:NM_021830:exon3:c.G1485A:p.R495R,;ANNO=splicing:C10orf2
10	102796962	.	T	C	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SFXN3(NM_030971:c.733+2T>C)
10	102798401	.	G	A	100	PASS	AC=70;STUDIES=16;MAC=70;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SFXN3:NM_030971:exon10:c.G785A:p.R262H,;ANNO=splicing:SFXN3
10	103342648	.	C	T	100	PASS	AC=13;STUDIES=8;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:POLL:NM_013274:exon7:c.G1066A:p.G356S,POLL:NM_001174085:exon7:c.G790A:p.G264S,POLL:NM_001174084:exon7:c.G1066A:p.G356S,;ANNO=splicing:POLL
10	103371385	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=synonymous:FBXW4:NM_022039:exon8:c.C1119T:p.H373H,;ANNO=nonsynonymous:FBXW4:NM_022039:exon8:c.C1119A:p.H373Q,;ANNO=splicing:FBXW4;ANNO=splicing:FBXW4
10	103587908	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KCNIP2:NM_173192:exon6:c.G543C:p.E181D,KCNIP2:NM_014591:exon7:c.G642C:p.E214D,KCNIP2:NM_173193:exon5:c.G468C:p.E156D,KCNIP2:NM_173194:exon5:c.G462C:p.E154D,KCNIP2:NM_173195:exon5:c.G447C:p.E149D,KCNIP2:NM_173191:exon7:c.G597C:p.E199D,;ANNO=splicing:KCNIP2
10	103784913	.	G	A	100	PASS	AC=20;STUDIES=6;MAC=20;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C10orf76:NM_024541:exon6:c.C507T:p.T169T,;ANNO=splicing:C10orf76
10	104129532	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GBF1:NM_001199378:exon25:c.G3215A:p.R1072Q,GBF1:NM_001199379:exon25:c.G3212A:p.R1071Q,GBF1:NM_004193:exon25:c.G3212A:p.R1071Q,;ANNO=splicing:GBF1
10	104136897	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GBF1:NM_004193:exon33:c.C4491T:p.D1497D,;ANNO=splicing:GBF1
10	104165103	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PSD:NM_002779:exon12:c.A2326G:p.T776A,;ANNO=splicing:PSD
10	104171984	.	G	A	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PSD:NM_002779:exon7:c.C1749T:p.N583N,;ANNO=splicing:PSD
10	104174986	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PSD:NM_002779:exon4:c.G758A:p.G253D,;ANNO=splicing:PSD
10	104488288	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SFXN2(NM_178858:c.431+2T>C)
10	104591264	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CYP17A1(NM_000102:c.1243+1G>T)
10	104629603	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AS3MT(NM_020682:c.42+1G>A)
10	104638266	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AS3MT:NM_020682:exon8:c.C741T:p.I247I,;ANNO=splicing:AS3MT
10	104638267	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AS3MT:NM_020682:exon8:c.G742A:p.G248S,;ANNO=splicing:AS3MT
10	105108756	.	G	A	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:PCGF6:NM_032154:exon2:c.C361T:p.R121C,PCGF6:NM_001011663:exon2:c.C361T:p.R121C,;ANNO=splicing:PCGF6
10	105152127	.	C	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:USMG5(NM_001206426:c.87+1G>C,NM_001206427:c.87+1G>C,NM_032747:c.87+1G>C)
10	105173078	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:PDCD11:NM_014976:exon9:c.G1184A:p.R395Q,;ANNO=nonsynonymous:PDCD11:NM_014976:exon9:c.G1184T:p.R395L,;ANNO=splicing:PDCD11;ANNO=splicing:PDCD11
10	105177688	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDCD11:NM_014976:exon14:c.A1910G:p.Q637R,;ANNO=splicing:PDCD11
10	105185281	.	A	G	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PDCD11:NM_014976:exon20:c.A3304G:p.K1102E,;ANNO=splicing:PDCD11
10	105495491	.	C	T	100	PASS	AC=13;STUDIES=11;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SH3PXD2A:NM_014631:exon4:c.G305A:p.R102Q,;ANNO=splicing:SH3PXD2A
10	105792431	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL17A1(NM_000494:c.4438+1G>T)
10	105803584	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=synonymous:COL17A1:NM_000494:exon34:c.G2433C:p.S811S,;ANNO=synonymous:COL17A1:NM_000494:exon34:c.G2433A:p.S811S,;ANNO=splicing:COL17A1;ANNO=splicing:COL17A1
10	105806506	.	C	G	100	PASS	AC=32;STUDIES=5;MAC=32;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL17A1:NM_000494:exon32:c.G2361C:p.Q787H,;ANNO=splicing:COL17A1
10	105830185	.	C	G	100	PASS	AC=224;STUDIES=9;MAC=224;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL17A1:NM_000494:exon9:c.G606C:p.S202S,;ANNO=splicing:COL17A1
10	105832966	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL17A1(NM_000494:c.415+2T>G)
10	105900601	.	C	T	100	PASS	AC=21;STUDIES=6;MAC=21;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDR96:NM_025145:exon34:c.G4430A:p.R1477Q,;ANNO=splicing:WDR96
10	105927496	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR96(NM_025145:c.2691-1G>A)
10	105928605	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WDR96:NM_025145:exon21:c.T2588C:p.M863T,;ANNO=splicing:WDR96
10	106034982	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GSTO2(NM_001191013:c.34-2A>G,NM_183239:c.34-2A>G)
10	106057334	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GSTO2(NM_001191013:c.366-2A>G,NM_183239:c.468-2A>G,NM_001191014:c.384-2A>G,NM_001191015:c.282-2A>G)
10	106136567	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC147(NM_001008723:c.1090-2A>C)
10	111667572	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:XPNPEP1:NM_001167604:exon3:c.C123T:p.D41D,XPNPEP1:NM_020383:exon3:c.C123T:p.D41D,;ANNO=splicing:XPNPEP1
10	111892062	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADD3(NM_016824:c.1732-1G>A)
10	114043569	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TECTB(NM_058222:c.76+1G>T)
10	114194055	.	T	C	100	PASS	AC=23;STUDIES=11;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZDHHC6:NM_022494:exon7:c.A903G:p.T301T,;ANNO=splicing:ZDHHC6
10	114298089	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:VTI1A:NM_145206:exon5:c.G427A:p.E143K,;ANNO=splicing:VTI1A
10	114427978	.	G	A	100	PASS	AC=539;STUDIES=21;MAC=539;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VTI1A:NM_145206:exon6:c.G429A:p.E143E,;ANNO=splicing:VTI1A
10	115349424	.	C	T	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NRAP(NM_198060:c.5088+1G>A,NM_006175:c.4983+1G>A)
10	115355382	.	G	A	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NRAP:NM_198060:exon38:c.C4536T:p.D1512D,NRAP:NM_006175:exon37:c.C4431T:p.D1477D,;ANNO=splicing:NRAP
10	115355485	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NRAP:NM_198060:exon38:c.G4433A:p.R1478H,NRAP:NM_006175:exon37:c.G4328A:p.R1443H,;ANNO=splicing:NRAP
10	115365521	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NRAP:NM_198060:exon34:c.T3915C:p.D1305D,NRAP:NM_006175:exon33:c.T3810C:p.D1270D,;ANNO=splicing:NRAP
10	115365628	.	C	T	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NRAP:NM_198060:exon34:c.G3808A:p.A1270T,NRAP:NM_006175:exon33:c.G3703A:p.A1235T,;ANNO=splicing:NRAP
10	115372191	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NRAP(NM_198060:c.3300-1G>A,NM_006175:c.3195-1G>A)
10	115374704	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NRAP:NM_198060:exon28:c.C3080T:p.T1027M,NRAP:NM_006175:exon27:c.C2975T:p.T992M,;ANNO=splicing:NRAP
10	115391368	.	A	G	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NRAP:NM_198060:exon18:c.T1742C:p.I581T,NRAP:NM_006175:exon17:c.T1637C:p.I546T,;ANNO=splicing:NRAP
10	115405700	.	T	C	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NRAP:NM_198060:exon11:c.A994G:p.I332V,NRAP:NM_006175:exon11:c.A994G:p.I332V,;ANNO=splicing:NRAP
10	115406682	.	G	A	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NRAP:NM_198060:exon10:c.C993T:p.D331D,NRAP:NM_006175:exon10:c.C993T:p.D331D,;ANNO=splicing:NRAP
10	115410197	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NRAP:NM_198060:exon8:c.T783A:p.D261E,NRAP:NM_006175:exon8:c.T783A:p.D261E,;ANNO=splicing:NRAP
10	115417228	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NRAP(NM_198060:c.360+1G>A,NM_006175:c.360+1G>A)
10	115423570	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NRAP:NM_198060:exon1:c.G72C:p.Q24H,NRAP:NM_006175:exon1:c.G72C:p.Q24H,;ANNO=splicing:NRAP
10	115605562	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DCLRE1A:NM_014881:exon4:c.A2260C:p.I754L,;ANNO=splicing:DCLRE1A
10	115970507	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TDRD1:NM_198795:exon12:c.C1552G:p.R518G,;ANNO=splicing:TDRD1
10	116008464	.	T	A	100	PASS	AC=1500;STUDIES=15;MAC=1500;MAF=0.085;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:VWA2
10	116056978	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:AFAP1L2(NM_001001936:c.2307+1G>A)
10	116056991	.	A	G	100	PASS	AC=323;STUDIES=13;MAC=323;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AFAP1L2:NM_001001936:exon17:c.T2295C:p.N765N,AFAP1L2:NM_032550:exon17:c.T2295C:p.N765N,;ANNO=splicing:AFAP1L2
10	116061114	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AFAP1L2:NM_001001936:exon13:c.C1541T:p.A514V,AFAP1L2:NM_032550:exon13:c.C1541T:p.A514V,;ANNO=splicing:AFAP1L2
10	116068193	.	G	A	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AFAP1L2:NM_001001936:exon9:c.C966T:p.D322D,AFAP1L2:NM_032550:exon9:c.C966T:p.D322D,;ANNO=splicing:AFAP1L2
10	116590688	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FAM160B1:NM_020940:exon2:c.A123G:p.S41S,FAM160B1:NM_001135051:exon2:c.A123G:p.S41S,;ANNO=splicing:FAM160B1
10	116730125	.	A	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRUB1(NM_139169:c.523-2A>C)
10	117024753	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATRNL1:NM_207303:exon11:c.G1771A:p.G591R,;ANNO=splicing:ATRNL1
10	118030627	.	T	G	100	PASS	AC=156;STUDIES=7;MAC=156;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GFRA1:NM_001145453:exon3:c.A41C:p.D14A,GFRA1:NM_145793:exon2:c.A41C:p.D14A,GFRA1:NM_005264:exon3:c.A41C:p.D14A,;ANNO=splicing:GFRA1
10	118357677	.	G	A	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PNLIPRP1:NM_006229:exon8:c.G813A:p.A271A,;ANNO=splicing:PNLIPRP1
10	118386509	.	G	C	100	PASS	AC=130;STUDIES=14;MAC=130;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:PNLIPRP2:NM_005396:exon5:c.G467A:p.R156Q,;ANNO=nonsynonymous:PNLIPRP2:NM_005396:exon5:c.G467C:p.R156P,;ANNO=splicing:PNLIPRP2;ANNO=splicing:PNLIPRP2
10	118394470	.	G	C	100	PASS	AC=22;STUDIES=4;MAC=22;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PNLIPRP2:NM_005396:exon9:c.G938C:p.R313T,;ANNO=splicing:PNLIPRP2
10	118427770	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C10orf82:NM_144661:exon2:c.C54T:p.S18S,;ANNO=splicing:C10orf82
10	118439271	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HSPA12A:NM_025015:exon10:c.C1029T:p.G343G,;ANNO=splicing:HSPA12A
10	118711420	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KIAA1598:NM_018330:exon6:c.A534G:p.E178E,KIAA1598:NM_001127211:exon6:c.A534G:p.E178E,;ANNO=splicing:KIAA1598
10	119029975	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC18A2(NM_003054:c.1440+1G>T)
10	119774577	.	G	A	100	PASS	AC=197;STUDIES=17;MAC=197;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RAB11FIP2:NM_014904:exon4:c.C1310T:p.P437L,;ANNO=splicing:RAB11FIP2
10	120863708	.	C	G	100	PASS	AC=38;STUDIES=6;MAC=38;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:FAM45A:NM_207009:exon1:c.C54G:p.I18M,;ANNO=splicing:FAM45A
10	120883082	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM45A(NM_207009:c.694+1G>A)
10	120892120	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:FAM45A:NM_207009:exon8:c.A896G:p.Q299R,;ANNO=splicing:FAM45A
10	121207772	.	C	T	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GRK5:NM_005308:exon13:c.C1404T:p.D468D,;ANNO=splicing:GRK5
10	121429363	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BAG3:NM_004281:exon2:c.G181A:p.E61K,;ANNO=splicing:BAG3
10	121437329	.	A	G	100	PASS	AC=336;STUDIES=2;MAC=336;MAF=0.218;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:BAG3
10	121510669	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:INPP5F(NM_014937:c.178+1G>A)
10	121662311	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SEC23IP:NM_007190:exon3:c.G697A:p.V233I,;ANNO=splicing:SEC23IP
10	121685740	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SEC23IP(NM_007190:c.2313+1G>T)
10	121689274	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SEC23IP:NM_007190:exon14:c.G2469A:p.P823P,;ANNO=splicing:SEC23IP
10	122263331	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PPAPDC1A:NM_001030059:exon2:c.T58C:p.F20L,;ANNO=splicing:PPAPDC1A
10	122659648	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:WDR11:NM_018117:exon20:c.G2623A:p.V875I,;ANNO=splicing:WDR11
10	122663559	.	A	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDR11:NM_018117:exon24:c.A2932C:p.K978Q,;ANNO=splicing:WDR11
10	123260460	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FGFR2:NM_001144916:exon8:c.C1096T:p.L366L,FGFR2:NM_001144917:exon9:c.C1093T:p.L365L,FGFR2:NM_022970:exon11:c.C1444T:p.L482L,FGFR2:NM_001144913:exon10:c.C1444T:p.L482L,FGFR2:NM_001144918:exon9:c.C1090T:p.L364L,FGFR2:NM_000141:exon11:c.C1441T:p.L481L,FGFR2:NM_001144914:exon8:c.C1105T:p.L369L,FGFR2:NM_001144919:exon10:c.C1177T:p.L393L,FGFR2:NM_001144915:exon10:c.C1174T:p.L392L,;ANNO=splicing:FGFR2
10	123730454	.	T	C	100	PASS	AC=52;STUDIES=15;MAC=52;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NSMCE4A:NM_001167865:exon3:c.A501G:p.L167L,NSMCE4A:NM_017615:exon3:c.A501G:p.L167L,;ANNO=splicing:NSMCE4A
10	123848105	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TACC2:NM_206862:exon5:c.A5572G:p.S1858G,;ANNO=splicing:TACC2
10	124034613	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BTBD16:NM_144587:exon2:c.C17T:p.T6M,;ANNO=splicing:BTBD16
10	124045621	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BTBD16:NM_144587:exon5:c.T243C:p.D81D,;ANNO=splicing:BTBD16
10	124097533	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BTBD16:NM_144587:exon16:c.C1454T:p.T485I,;ANNO=splicing:BTBD16
10	124325512	.	G	A	100	PASS	AC=147;STUDIES=12;MAC=147;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DMBT1:NM_007329:exon2:c.G91A:p.A31T,DMBT1:NM_004406:exon2:c.G91A:p.A31T,DMBT1:NM_017579:exon2:c.G91A:p.A31T,;ANNO=splicing:DMBT1
10	124337325	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DMBT1(NM_017579:c.607-2A>G,NM_004406:c.607-2A>G,NM_007329:c.607-2A>G)
10	124357488	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DMBT1(NM_017579:c.2887-2A>C,NM_004406:c.1420-2A>C,NM_007329:c.2917-2A>C)
10	124357528	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DMBT1:NM_007329:exon25:c.G2956A:p.G986R,DMBT1:NM_004406:exon15:c.G1459A:p.G487R,DMBT1:NM_017579:exon24:c.G2926A:p.G976R,;ANNO=splicing:DMBT1
10	124359580	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:DMBT1:NM_007329:exon27:c.C3281T:p.A1094V,DMBT1:NM_004406:exon17:c.C1784T:p.A595V,DMBT1:NM_017579:exon26:c.C3251T:p.A1084V,;ANNO=splicing:DMBT1
10	124360508	.	C	T	100	PASS	AC=35;STUDIES=3;MAC=35;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:DMBT1:NM_007329:exon28:c.C3312T:p.D1104D,DMBT1:NM_004406:exon18:c.C1815T:p.D605D,DMBT1:NM_017579:exon27:c.C3282T:p.D1094D,;ANNO=splicing:DMBT1
10	124376745	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:DMBT1:NM_007329:exon37:c.C4473T:p.D1491D,DMBT1:NM_004406:exon24:c.C2589T:p.D863D,DMBT1:NM_017579:exon36:c.C4443T:p.D1481D,;ANNO=splicing:DMBT1
10	124390005	.	C	A	100	PASS	AC=24;STUDIES=7;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DMBT1:NM_007329:exon45:c.C5637A:p.S1879R,DMBT1:NM_004406:exon32:c.C3753A:p.S1251R,DMBT1:NM_017579:exon44:c.C5607A:p.S1869R,;ANNO=splicing:DMBT1
10	124458854	.	A	G	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C10orf120:NM_001010912:exon2:c.T251C:p.L84P,;ANNO=splicing:C10orf120
10	124596921	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CUZD1:NM_022034:exon4:c.T598C:p.F200L,;ANNO=splicing:CUZD1
10	124671275	.	A	G	100	PASS	AC=61;STUDIES=9;MAC=61;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM24A:NM_001029888:exon2:c.A125G:p.K42R,;ANNO=splicing:FAM24A
10	124746478	.	G	C	100	PASS	AC=16;STUDIES=8;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PSTK:NM_153336:exon5:c.G877C:p.G293R,;ANNO=splicing:PSTK
10	124794031	.	G	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACADSB:NM_001609:exon2:c.G202T:p.V68F,;ANNO=splicing:ACADSB
10	124797364	.	G	A	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACADSB(NM_001609:c.303+1G>A)
10	124908163	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HMX2(NM_005519:c.268+1G>C)
10	124909085	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HMX2(NM_005519:c.268-1G>A)
10	125526490	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CPXM2:NM_198148:exon10:c.C1478T:p.T493M,;ANNO=splicing:CPXM2
10	125530432	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CPXM2:NM_198148:exon8:c.G1102A:p.G368S,;ANNO=splicing:CPXM2
10	125602003	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CPXM2:NM_198148:exon4:c.C515T:p.A172V,;ANNO=splicing:CPXM2
10	126172895	.	G	A	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LHPP:NM_001167880:exon2:c.G313A:p.G105R,LHPP:NM_022126:exon2:c.G313A:p.G105R,;ANNO=splicing:LHPP
10	126185530	.	G	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LHPP:NM_001167880:exon4:c.G468T:p.G156G,LHPP:NM_022126:exon4:c.G468T:p.G156G,;ANNO=splicing:LHPP
10	126185531	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LHPP:NM_001167880:exon4:c.C469T:p.R157C,LHPP:NM_022126:exon4:c.C469T:p.R157C,;ANNO=splicing:LHPP
10	126463351	.	C	T	100	PASS	AC=31;STUDIES=15;MAC=31;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:METTL10:NM_212554:exon4:c.G292A:p.A98T,;ANNO=splicing:METTL10
10	127429219	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C10orf137:NM_015608:exon15:c.T2067C:p.H689H,C10orf137:NM_001202438:exon16:c.T2169C:p.H723H,;ANNO=splicing:C10orf137
10	127436105	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C10orf137:NM_015608:exon19:c.G2713T:p.A905S,C10orf137:NM_001202438:exon20:c.G2815T:p.A939S,;ANNO=splicing:C10orf137
10	127462934	.	G	A	100	PASS	AC=166;STUDIES=12;MAC=166;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:MMP21:NM_147191:exon2:c.C163T:p.R55W,;ANNO=splicing:MMP21
10	127520177	.	G	A	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BCCIP(NM_016567:c.599+1G>A,NM_078469:c.599+1G>A,NM_078468:c.599+1G>A)
10	127548544	.	C	T	100	PASS	AC=24;STUDIES=4;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DHX32:NM_018180:exon3:c.G477A:p.R159R,;ANNO=splicing:DHX32
10	127668907	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FANK1:NM_145235:exon2:c.C191T:p.T64M,;ANNO=splicing:FANK1
10	127683986	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FANK1:NM_145235:exon4:c.G317A:p.R106K,;ANNO=splicing:FANK1
10	127685120	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FANK1:NM_145235:exon5:c.C400T:p.R134C,;ANNO=splicing:FANK1
10	127685987	.	A	G	100	PASS	AC=44;STUDIES=11;MAC=44;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FANK1(NM_145235:c.473-2A>G)
10	128904495	.	G	A	100	PASS	AC=12;STUDIES=8;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DOCK1:NM_001380:exon24:c.G2383A:p.G795R,;ANNO=splicing:DOCK1
10	129216807	.	T	C	100	PASS	AC=39;STUDIES=6;MAC=39;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DOCK1(NM_001380:c.4629+2T>C)
10	129237488	.	C	T	100	PASS	AC=85;STUDIES=7;MAC=85;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DOCK1:NM_001380:exon49:c.C5195T:p.T1732M,;ANNO=splicing:DOCK1
10	129847929	.	A	G	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTPRE:NM_130435:exon3:c.A245G:p.N82S,PTPRE:NM_006504:exon6:c.A419G:p.N140S,;ANNO=splicing:PTPRE
10	129867956	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PTPRE:NM_130435:exon10:c.C834T:p.S278S,PTPRE:NM_006504:exon13:c.C1008T:p.S336S,;ANNO=splicing:PTPRE
10	129899523	.	T	C	100	PASS	AC=162;STUDIES=8;MAC=162;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MKI67:NM_001145966:exon13:c.A8624G:p.K2875R,MKI67:NM_002417:exon14:c.A9704G:p.K3235R,;ANNO=splicing:MKI67
10	129914272	.	C	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MKI67(NM_002417:c.400-1G>A)
10	131665406	.	G	C	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EBF3:NM_001005463:exon10:c.C1011G:p.T337T,;ANNO=splicing:EBF3
10	132944769	.	T	C	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TCERG1L:NM_174937:exon7:c.A1189G:p.T397A,;ANNO=splicing:TCERG1L
10	133963540	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:JAKMIP3(NM_001105521:c.2001+1G>A)
10	134121077	.	G	A	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:STK32C:NM_173575:exon1:c.C261T:p.D87D,;ANNO=splicing:STK32C
10	134155774	.	G	T	100	PASS	AC=133;STUDIES=9;MAC=133;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LRRC27:NM_001143758:exon4:c.G399T:p.L133L,LRRC27:NM_001143759:exon4:c.G399T:p.L133L,LRRC27:NM_001143757:exon4:c.G399T:p.L133L,LRRC27:NM_030626:exon4:c.G399T:p.L133L,;ANNO=splicing:LRRC27
10	134165111	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LRRC27:NM_001143759:exon8:c.A1022G:p.E341G,;ANNO=splicing:LRRC27
10	134258783	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:C10orf91(NM_173541:c.29+1G>A)
10	134259201	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C10orf91:NM_173541:exon2:c.G31T:p.V11L,;ANNO=splicing:C10orf91
10	134563348	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:INPP5A:NM_005539:exon11:c.C902T:p.A301V,;ANNO=splicing:INPP5A
10	134622408	.	T	C	100	PASS	AC=14582;STUDIES=19;MAC=6194;MAF=0.298;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C10orf92:NM_001200049:exon23:c.A2601G:p.R867R,;ANNO=splicing:C10orf92
10	134627760	.	T	C	100	PASS	AC=59;STUDIES=11;MAC=59;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C10orf92(NM_001200049:c.2221-2A>G)
10	134648279	.	C	T	100	PASS	AC=1335;STUDIES=19;MAC=1335;MAF=0.063;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C10orf92:NM_001200049:exon13:c.G1681A:p.E561K,;ANNO=splicing:C10orf92
10	134648808	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C10orf92:NM_001200049:exon12:c.G1680A:p.S560S,;ANNO=splicing:C10orf92
10	134671094	.	G	C	100	PASS	AC=1077;STUDIES=18;MAC=1077;MAF=0.053;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C10orf92:NM_001200049:exon4:c.C510G:p.D170E,;ANNO=splicing:C10orf92
10	134674286	.	C	G	100	PASS	AC=23;STUDIES=3;MAC=23;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C10orf92:NM_001200049:exon1:c.G27C:p.T9T,;ANNO=splicing:C10orf92
10	134752258	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C10orf93(NM_173572:c.371-1G>T)
10	134752259	.	T	C	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C10orf93(NM_173572:c.371-2A>G)
10	134996849	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KNDC1:NM_152643:exon4:c.C362T:p.A121V,;ANNO=splicing:KNDC1
10	135086935	.	C	G	100	PASS	AC=21;STUDIES=5;MAC=21;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADAM8:NM_001109:exon6:c.G396C:p.Q132H,ADAM8:NM_001164489:exon6:c.G396C:p.Q132H,;ANNO=splicing:ADAM8(NM_001164490:c.279-1G>C)
10	135106544	.	G	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TUBGCP2:NM_006659:exon7:c.C1023T:p.L341L,;ANNO=splicing:TUBGCP2
10	135141519	.	C	T	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CALY:NM_015722:exon3:c.G136A:p.V46M,;ANNO=splicing:CALY
10	135183408	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ECHS1:NM_004092:exon3:c.C414T:p.A138A,;ANNO=splicing:ECHS1
10	135215032	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MTG1(NM_138384:c.511-1G>C)
10	135233095	.	G	A	100	PASS	AC=19;STUDIES=7;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MTG1:NM_138384:exon10:c.G864A:p.T288T,;ANNO=splicing:MTG1
10	135370263	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:SYCE1:NM_001143764:exon8:c.C528T:p.H176H,SYCE1:NM_001143763:exon8:c.C528T:p.H176H,SYCE1:NM_130784:exon9:c.C420T:p.H140H,;ANNO=splicing:SYCE1
10	135371369	.	T	C	100	PASS	AC=50;STUDIES=13;MAC=50;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SYCE1:NM_001143764:exon6:c.A373G:p.R125G,SYCE1:NM_001143763:exon6:c.A373G:p.R125G,SYCE1:NM_130784:exon7:c.A265G:p.R89G,;ANNO=splicing:SYCE1
10	135372380	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SYCE1(NM_130784:c.163+1G>A,NM_001143763:c.271+1G>A,NM_001143764:c.271+1G>A)
10	135372381	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SYCE1:NM_001143764:exon4:c.C271T:p.L91L,SYCE1:NM_001143763:exon4:c.C271T:p.L91L,SYCE1:NM_130784:exon5:c.C163T:p.L55L,;ANNO=splicing:SYCE1
11	193154	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SCGB1C1:NM_145651:exon1:c.C55T:p.R19W,LOC653486:NM_001097610:exon1:c.C55T:p.R19W,;ANNO=splicing:LOC653486,SCGB1C1
11	212598	.	G	T	100	PASS	AC=102;STUDIES=6;MAC=102;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RIC8A:NM_021932:exon7:c.G1067T:p.G356V,;ANNO=splicing:RIC8A
11	230453	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SIRT3:NM_012239:exon4:c.G806A:p.R269Q,SIRT3:NM_001017524:exon4:c.G380A:p.R127Q,;ANNO=splicing:SIRT3
11	248855	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PSMD13:NM_002817:exon8:c.C648T:p.L216L,PSMD13:NM_175932:exon6:c.C654T:p.L218L,;ANNO=splicing:PSMD13
11	282797	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NLRP6:NM_138329:exon5:c.C2201T:p.T734M,;ANNO=splicing:NLRP6
11	292887	.	A	G	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ATHL1:NM_025092:exon7:c.A1160G:p.D387G,;ANNO=splicing:ATHL1
11	314356	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:IFITM1:NM_003641:exon1:c.G186A:p.K62K,;ANNO=splicing:IFITM1
11	373027	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:B4GALNT4:NM_178537:exon5:c.C446T:p.T149M,;ANNO=splicing:B4GALNT4
11	373516	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:B4GALNT4:NM_178537:exon7:c.G704A:p.R235Q,;ANNO=splicing:B4GALNT4
11	373828	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:B4GALNT4:NM_178537:exon8:c.C783T:p.G261G,;ANNO=splicing:B4GALNT4
11	376350	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:B4GALNT4:NM_178537:exon13:c.C1296T:p.D432D,;ANNO=splicing:B4GALNT4
11	380018	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:B4GALNT4:NM_178537:exon16:c.C2641T:p.R881W,;ANNO=splicing:B4GALNT4
11	428359	.	G	A	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ANO9:NM_001012302:exon14:c.C1221T:p.F407F,;ANNO=splicing:ANO9
11	428396	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANO9(NM_001012302:c.1185-2A>C)
11	431908	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANO9(NM_001012302:c.406-2A>G)
11	489733	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PTDSS2:NM_030783:exon10:c.C1115T:p.P372L,;ANNO=splicing:PTDSS2
11	533357	.	C	G	100	PASS	AC=26;STUDIES=2;MAC=26;MAF=0.213;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HRAS:NM_176795:exon5:c.G452C:p.G151A,;ANNO=splicing:HRAS
11	551826	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LRRC56:NM_198075:exon10:c.T972C:p.H324H,;ANNO=splicing:LRRC56
11	563190	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RASSF7:NM_001143993:exon4:c.C824T:p.A275V,RASSF7:NM_003475:exon4:c.C824T:p.A275V,RASSF7:NM_001143994:exon4:c.C824T:p.A275V,;ANNO=splicing:RASSF7
11	563316	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RASSF7:NM_001143993:exon4:c.A950G:p.Q317R,RASSF7:NM_003475:exon4:c.A950G:p.Q317R,RASSF7:NM_001143994:exon4:c.A950G:p.Q317R,;ANNO=splicing:RASSF7
11	563477	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RASSF7:NM_003475:exon5:c.G1033C:p.G345R,;ANNO=splicing:RASSF7
11	618110	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CDHR5:NM_031264:exon13:c.T1380C:p.G460G,CDHR5:NM_021924:exon14:c.T1962C:p.G654G,CDHR5:NM_001171968:exon14:c.T1944C:p.G648G,;ANNO=splicing:CDHR5
11	619390	.	C	T	100	PASS	AC=45;STUDIES=8;MAC=45;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CDHR5:NM_031264:exon12:c.G1294A:p.V432I,CDHR5:NM_021924:exon12:c.G1294A:p.V432I,CDHR5:NM_001171968:exon12:c.G1294A:p.V432I,;ANNO=splicing:CDHR5
11	621346	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CDHR5:NM_031264:exon6:c.G617A:p.R206Q,CDHR5:NM_021924:exon6:c.G617A:p.R206Q,CDHR5:NM_001171968:exon6:c.G617A:p.R206Q,;ANNO=splicing:CDHR5
11	640305	.	C	G	100	PASS	AC=20;STUDIES=2;MAC=20;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DRD4:NM_000797:exon3:c.C1056G:p.V352V,;ANNO=splicing:DRD4
11	698889	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM80(NM_001042463:c.114+1G>A,NM_174940:c.90+1G>A)
11	747577	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TALDO1:NM_006755:exon1:c.C96T:p.H32H,;ANNO=splicing:TALDO1
11	792726	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC25A22:NM_001191060:exon7:c.C414T:p.A138A,SLC25A22:NM_001191061:exon7:c.C414T:p.A138A,SLC25A22:NM_024698:exon7:c.C414T:p.A138A,;ANNO=splicing:SLC25A22
11	800450	.	G	A	100	PASS	AC=40;STUDIES=3;MAC=40;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PIDD:NM_145886:exon13:c.C2043T:p.D681D,PIDD:NM_145887:exon13:c.C2043T:p.D681D,;ANNO=splicing:PIDD
11	800453	.	T	C	100	PASS	AC=33;STUDIES=4;MAC=33;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PIDD(NM_145887:c.2041-2A>G,NM_145886:c.2041-2A>G)
11	823586	.	C	G	100	PASS	AC=199;STUDIES=16;MAC=199;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PNPLA2:NM_020376:exon6:c.C756G:p.N252K,;ANNO=splicing:PNPLA2
11	823854	.	G	A	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PNPLA2:NM_020376:exon7:c.G918A:p.E306E,;ANNO=splicing:PNPLA2
11	827713	.	A	T	100	PASS	AC=624;STUDIES=2;MAC=624;MAF=0.317;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=1;ANNO=splicing:EFCAB4A
11	829539	.	A	G	100	PASS	AC=10861;STUDIES=16;MAC=4353;MAF=0.286;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=6;ANNO=nonsynonymous:EFCAB4A:NM_173584:exon4:c.A457G:p.K153E,;ANNO=splicing:EFCAB4A
11	864511	.	G	A	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TSPAN4:NM_003271:exon5:c.G330A:p.K110K,TSPAN4:NM_001025239:exon4:c.G138A:p.K46K,TSPAN4:NM_001025234:exon5:c.G330A:p.K110K,TSPAN4:NM_001025235:exon5:c.G330A:p.K110K,TSPAN4:NM_001025236:exon5:c.G330A:p.K110K,TSPAN4:NM_001025237:exon5:c.G330A:p.K110K,TSPAN4:NM_001025238:exon4:c.G330A:p.K110K,;ANNO=splicing:TSPAN4
11	865614	.	C	T	100	PASS	AC=19;STUDIES=3;MAC=19;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TSPAN4:NM_003271:exon6:c.C432T:p.D144D,TSPAN4:NM_001025239:exon5:c.C240T:p.D80D,TSPAN4:NM_001025234:exon6:c.C432T:p.D144D,TSPAN4:NM_001025235:exon6:c.C432T:p.D144D,TSPAN4:NM_001025236:exon6:c.C432T:p.D144D,TSPAN4:NM_001025237:exon6:c.C432T:p.D144D,TSPAN4:NM_001025238:exon5:c.C432T:p.D144D,;ANNO=splicing:TSPAN4
11	1009101	.	T	G	100	PASS	AC=23;STUDIES=2;MAC=23;MAF=0.174;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AP2A2:NM_012305:exon19:c.G2422G:p.A808A,;ANNO=splicing:AP2A2
11	1026001	.	G	A	100	PASS	AC=69;STUDIES=14;MAC=69;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MUC6:NM_005961:exon21:c.C2687T:p.T896M,;ANNO=splicing:MUC6
11	1031169	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MUC6:NM_005961:exon5:c.G574A:p.G192S,;ANNO=splicing:MUC6
11	1075920	.	G	A	100	PASS	AC=3440;STUDIES=17;MAC=3440;MAF=0.207;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:MUC2:NM_002457:exon2:c.G346A:p.V116M,;ANNO=splicing:MUC2
11	1078268	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MUC2:NM_002457:exon5:c.C555T:p.G185G,;ANNO=splicing:MUC2
11	1078456	.	C	T	100	PASS	AC=67;STUDIES=11;MAC=67;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MUC2:NM_002457:exon6:c.C664T:p.R222C,;ANNO=splicing:MUC2
11	1081074	.	T	C	100	PASS	AC=3993;STUDIES=18;MAC=3993;MAF=0.220;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:MUC2:NM_002457:exon11:c.T1370C:p.V457A,;ANNO=splicing:MUC2
11	1081141	.	C	T	100	PASS	AC=1458;STUDIES=19;MAC=1458;MAF=0.072;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MUC2:NM_002457:exon11:c.C1437T:p.T479T,;ANNO=splicing:MUC2
11	1081421	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:MUC2:NM_002457:exon12:c.C1439A:p.A480E,;ANNO=nonsynonymous:MUC2:NM_002457:exon12:c.C1439T:p.A480V,;ANNO=splicing:MUC2;ANNO=splicing:MUC2
11	1085936	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MUC2:NM_002457:exon22:c.A2776G:p.R926G,;ANNO=splicing:MUC2
11	1093679	.	C	T	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MUC2(NM_002457:c.5487-2C>T)
11	1247506	.	C	T	100	PASS	AC=44;STUDIES=4;MAC=44;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MUC5B:NM_002458:exon3:c.C199T:p.P67S,;ANNO=splicing:MUC5B
11	1251829	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MUC5B:NM_002458:exon12:c.C1469T:p.T490M,;ANNO=splicing:MUC5B
11	1253773	.	C	T	100	PASS	AC=15;STUDIES=4;MAC=15;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MUC5B:NM_002458:exon16:c.C1937T:p.S646L,;ANNO=splicing:MUC5B
11	1276109	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MUC5B:NM_002458:exon35:c.C15663T:p.C5221C,;ANNO=splicing:MUC5B
11	1309854	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TOLLIP:NM_019009:exon4:c.G519A:p.A173A,;ANNO=splicing:TOLLIP
11	1309855	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TOLLIP:NM_019009:exon4:c.C518T:p.A173V,;ANNO=splicing:TOLLIP
11	1629693	.	C	T	100	PASS	AC=205;STUDIES=3;MAC=205;MAF=0.099;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=splicing:KRTAP5-3
11	1857117	.	T	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:SYT8:NM_138567:exon4:c.T302G:p.V101G,;ANNO=splicing:SYT8
11	1857514	.	C	T	100	PASS	AC=114;STUDIES=17;MAC=114;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SYT8:NM_138567:exon5:c.C558T:p.H186H,;ANNO=splicing:SYT8
11	1857515	.	G	A	100	PASS	AC=28;STUDIES=11;MAC=28;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:SYT8(NM_138567:c.558+1G>A)
11	1901454	.	T	C	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LSP1:NM_001013253:exon2:c.T5C:p.L2P,LSP1:NM_001013254:exon2:c.T5C:p.L2P,LSP1:NM_001013255:exon2:c.T5C:p.L2P,LSP1:NM_002339:exon2:c.T191C:p.L64P,;ANNO=splicing:LSP1
11	1955067	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TNNT3:NM_001042782:exon9:c.C264T:p.I88I,TNNT3:NM_001042781:exon10:c.C282T:p.I94I,TNNT3:NM_001042780:exon9:c.C264T:p.I88I,TNNT3:NM_006757:exon10:c.C288T:p.I96I,;ANNO=splicing:TNNT3
11	2161530	.	C	T	100	PASS	AC=47;STUDIES=6;MAC=47;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IGF2
11	2189321	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TH:NM_000360:exon4:c.G576A:p.P192P,TH:NM_199292:exon5:c.G669A:p.P223P,TH:NM_199293:exon5:c.G657A:p.P219P,;ANNO=splicing:TH
11	2192914	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TH(NM_199292:c.102+1G>A)
11	2192927	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TH:NM_000360:exon1:c.G90A:p.M30I,TH:NM_199292:exon1:c.G90A:p.M30I,TH:NM_199293:exon1:c.G90A:p.M30I,;ANNO=splicing:TH
11	2428022	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TRPM5:NM_014555:exon21:c.G3120A:p.E1040E,;ANNO=splicing:TRPM5
11	2435946	.	A	G	100	PASS	AC=6351;STUDIES=15;MAC=2529;MAF=0.285;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=7;ANNO=synonymous:TRPM5:NM_014555:exon11:c.T1743C:p.L581L,;ANNO=splicing:TRPM5
11	2591983	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KCNQ1:NM_181798:exon3:c.C222T:p.I74I,KCNQ1:NM_000218:exon3:c.C603T:p.I201I,;ANNO=splicing:KCNQ1
11	2997254	.	G	A	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:NAP1L4:NM_005969:exon4:c.C173T:p.T58I,;ANNO=splicing:NAP1L4
11	3383121	.	T	C	100	PASS	AC=14;STUDIES=2;MAC=14;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:ZNF195(NM_001130519:c.226-2A>G,NM_001130520:c.226-2A>G,NM_001242841:c.238-2A>G)
11	3663409	.	T	C	100	PASS	AC=696;STUDIES=2;MAC=696;MAF=0.362;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ART5
11	3691024	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CHRNA10(NM_020402:c.207+2T>G)
11	3716835	.	C	T	100	PASS	AC=49;STUDIES=6;MAC=49;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NUP98:NM_139132:exon26:c.G4011A:p.G1337G,NUP98:NM_016320:exon26:c.G4011A:p.G1337G,;ANNO=splicing:NUP98
11	3784133	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NUP98:NM_005387:exon9:c.C1085T:p.S362L,NUP98:NM_139132:exon9:c.C1085T:p.S362L,NUP98:NM_139131:exon9:c.C1085T:p.S362L,NUP98:NM_016320:exon9:c.C1085T:p.S362L,;ANNO=splicing:NUP98
11	3797112	.	G	A	100	PASS	AC=237;STUDIES=10;MAC=237;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NUP98:NM_005387:exon5:c.C495T:p.N165N,NUP98:NM_139132:exon5:c.C495T:p.N165N,NUP98:NM_139131:exon5:c.C495T:p.N165N,NUP98:NM_016320:exon5:c.C495T:p.N165N,;ANNO=splicing:NUP98
11	4076757	.	A	G	100	PASS	AC=43;STUDIES=3;MAC=43;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:STIM1:NM_003156:exon4:c.A387G:p.V129V,;ANNO=splicing:STIM1
11	4150379	.	A	C	100	PASS	AC=26;STUDIES=5;MAC=26;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RRM1:NM_001033:exon15:c.A1768C:p.K590Q,;ANNO=splicing:RRM1
11	4566421	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OR52M1:NM_001004137:exon1:c.A1G:p.M1V,;ANNO=splicing:OR52M1
11	4594535	.	C	G	100	PASS	AC=21;STUDIES=2;MAC=21;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C11orf40(NM_144663:c.308+1G>C)
11	4594703	.	C	T	100	PASS	AC=301;STUDIES=8;MAC=301;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C11orf40(NM_144663:c.141-1G>A)
11	5248029	.	C	A	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HBB:NM_000518:exon2:c.G93T:p.R31S,;ANNO=splicing:HBB
11	5248159	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:HBB(NM_000518:c.92+1G>A)
11	5323175	.	A	G	100	PASS	AC=75;STUDIES=7;MAC=75;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OR51B4:NM_033179:exon1:c.T2C:p.M1T,;ANNO=splicing:OR51B4
11	5631375	.	G	A	100	PASS	AC=8;STUDIES=7;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TRIM6:NM_001003818:exon6:c.G858A:p.R286R,TRIM6:NM_001198645:exon4:c.G249A:p.R83R,TRIM6:NM_001198644:exon5:c.G249A:p.R83R,TRIM6:NM_058166:exon6:c.G774A:p.R258R,TRIM6-TRIM34:NM_001003819:exon6:c.G858A:p.R286R,;ANNO=splicing:TRIM6,TRIM6-TRIM34
11	5688940	.	C	T	100	PASS	AC=2871;STUDIES=22;MAC=2871;MAF=0.119;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRIM5:NM_033092:exon5:c.G746A:p.G249D,TRIM5:NM_033093:exon5:c.G746A:p.G249D,TRIM5:NM_033034:exon5:c.G746A:p.G249D,;ANNO=splicing:TRIM5
11	5700399	.	C	G	100	PASS	AC=43;STUDIES=13;MAC=43;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRIM5:NM_033092:exon3:c.G418C:p.V140L,TRIM5:NM_033093:exon3:c.G418C:p.V140L,TRIM5:NM_033034:exon3:c.G418C:p.V140L,;ANNO=splicing:TRIM5
11	5719777	.	T	C	100	PASS	AC=48;STUDIES=8;MAC=48;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRIM22(NM_006074:c.750+2T>C,NM_001199573:c.738+2T>C)
11	5877979	.	T	A	100	PASS	AC=8589;STUDIES=20;MAC=8589;MAF=0.411;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=stoploss:OR52E8:NM_001005168:exon1:c.A954T:p.X318Y,;ANNO=splicing:OR52E8
11	6233097	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM160A2:NM_032127:exon12:c.T2600G:p.V867G,FAM160A2:NM_001098794:exon12:c.T2558G:p.V853G,;ANNO=splicing:FAM160A2
11	6239828	.	A	C	100	PASS	AC=21;STUDIES=2;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FAM160A2:NM_032127:exon8:c.T1437G:p.G479G,;ANNO=splicing:FAM160A2(NM_001098794:c.1435+2T>G)
11	6260499	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CNGA4(NM_001037329:c.62+1G>A)
11	6462110	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HPX(NM_000613:c.83+1G>A)
11	6530392	.	T	C	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DNHD1:NM_144666:exon6:c.T1125C:p.C375C,DNHD1:NM_173589:exon5:c.T1125C:p.C375C,;ANNO=splicing:DNHD1
11	6589683	.	G	A	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNHD1(NM_144666:c.12538-1G>A)
11	6621715	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RRP8(NM_015324:c.1251+1G>A)
11	6622379	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RRP8:NM_015324:exon3:c.G917A:p.R306Q,;ANNO=splicing:RRP8
11	6623080	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RRP8(NM_015324:c.463+2T>C)
11	6638385	.	C	G	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:TPP1(NM_000391:c.508-1G>C);ANNO=splicing:TPP1(NM_000391:c.508-1G>A)
11	6646958	.	C	T	100	PASS	AC=86;STUDIES=8;MAC=86;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DCHS1:NM_003737:exon18:c.G6732A:p.R2244R,;ANNO=splicing:DCHS1
11	6647784	.	T	C	100	PASS	AC=36;STUDIES=4;MAC=36;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DCHS1:NM_003737:exon15:c.A6363G:p.T2121T,;ANNO=splicing:DCHS1
11	6649853	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DCHS1:NM_003737:exon13:c.A5370G:p.L1790L,;ANNO=splicing:DCHS1
11	6650684	.	T	A	100	PASS	AC=259;STUDIES=21;MAC=259;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DCHS1:NM_003737:exon12:c.A5160T:p.T1720T,;ANNO=splicing:DCHS1
11	6964873	.	G	A	100	PASS	AC=41;STUDIES=13;MAC=41;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF215(NM_013250:c.712+1G>A)
11	7063617	.	A	C	100	PASS	AC=21;STUDIES=4;MAC=21;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NLRP14(NM_176822:c.361-2A>C)
11	7079079	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NLRP14(NM_176822:c.2462+1G>A)
11	7324620	.	C	T	100	PASS	AC=19;STUDIES=9;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYT9:NM_175733:exon2:c.C496T:p.R166W,;ANNO=splicing:SYT9
11	7441737	.	T	C	100	PASS	AC=2875;STUDIES=22;MAC=2875;MAF=0.119;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SYT9:NM_175733:exon6:c.T1338C:p.R446R,;ANNO=splicing:SYT9
11	7649517	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PPFIBP2:NM_003621:exon9:c.C828G:p.D276E,;ANNO=splicing:PPFIBP2
11	7672195	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PPFIBP2:NM_003621:exon22:c.T2246C:p.I749T,;ANNO=splicing:PPFIBP2
11	7673074	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:PPFIBP2:NM_003621:exon23:c.G2435A:p.R812Q,;ANNO=nonsynonymous:PPFIBP2:NM_003621:exon23:c.G2435C:p.R812P,;ANNO=splicing:PPFIBP2;ANNO=splicing:PPFIBP2
11	7717219	.	A	T	100	PASS	AC=2566;STUDIES=4;MAC=0;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;SNP_ON_LEFT;ANNO=splicing:OVCH2(NM_198185:c.1179+1T>A)
11	7717257	.	C	T	100	PASS	AC=131;STUDIES=8;MAC=131;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OVCH2:NM_198185:exon11:c.G1142A:p.G381E,;ANNO=splicing:OVCH2
11	7718135	.	G	A	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OVCH2:NM_198185:exon10:c.C1018T:p.R340W,;ANNO=splicing:OVCH2
11	8060574	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TUB:NM_003320:exon1:c.C154T:p.R52W,;ANNO=splicing:TUB
11	8060575	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TUB:NM_003320:exon1:c.G155A:p.R52Q,;ANNO=splicing:TUB
11	8122147	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TUB:NM_177972:exon10:c.A1214G:p.N405S,TUB:NM_003320:exon11:c.A1379G:p.N460S,;ANNO=splicing:TUB
11	8122543	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TUB:NM_177972:exon11:c.C1386T:p.D462D,TUB:NM_003320:exon12:c.C1551T:p.D517D,;ANNO=splicing:TUB
11	8706439	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=synonymous:RPL27A:NM_000990:exon4:c.G318A:p.S106S,;ANNO=synonymous:RPL27A:NM_000990:exon4:c.G318C:p.S106S,;ANNO=splicing:RPL27A;ANNO=splicing:RPL27A
11	8947010	.	C	G	100	PASS	AC=44;STUDIES=6;MAC=44;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C11orf16:NM_020643:exon5:c.G1204C:p.G402R,;ANNO=splicing:C11orf16
11	9049107	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SCUBE2:NM_020974:exon19:c.C2334T:p.N778N,;ANNO=splicing:SCUBE2
11	9431475	.	G	A	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:IPO7:NM_006391:exon4:c.G321A:p.R107R,;ANNO=splicing:IPO7
11	9459831	.	C	T	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:IPO7:NM_006391:exon22:c.C2694T:p.T898T,;ANNO=splicing:IPO7
11	9462003	.	G	A	100	PASS	AC=257;STUDIES=20;MAC=257;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:IPO7:NM_006391:exon23:c.G2697A:p.E899E,;ANNO=splicing:IPO7
11	9809181	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SBF2:NM_030962:exon36:c.C5037T:p.R1679R,;ANNO=splicing:SBF2
11	10506368	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AMPD3:NM_001025389:exon5:c.C591T:p.D197D,AMPD3:NM_001025390:exon5:c.C612T:p.D204D,AMPD3:NM_001172431:exon4:c.C114T:p.D38D,AMPD3:NM_001172430:exon5:c.C591T:p.D197D,AMPD3:NM_000480:exon5:c.C618T:p.D206D,;ANNO=splicing:AMPD3
11	10648129	.	T	C	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MRVI1:NM_001100163:exon9:c.A479G:p.N160S,MRVI1:NM_130385:exon9:c.A752G:p.N251S,MRVI1:NM_001098579:exon8:c.A728G:p.N243S,;ANNO=splicing:MRVI1
11	10673572	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MRVI1:NM_001206880:exon2:c.A225G:p.Q75Q,MRVI1:NM_130385:exon2:c.A225G:p.Q75Q,MRVI1:NM_001098579:exon1:c.A198G:p.Q66Q,;ANNO=splicing:MRVI1
11	10788037	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CTR9:NM_014633:exon13:c.G1686C:p.Q562H,;ANNO=splicing:CTR9
11	10825834	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EIF4G2:NM_001418:exon6:c.C483T:p.T161T,EIF4G2:NM_001042559:exon6:c.C483T:p.T161T,EIF4G2:NM_001172705:exon6:c.C483T:p.T161T,;ANNO=splicing:EIF4G2
11	11924811	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:USP47:NM_017944:exon6:c.T537C:p.A179A,;ANNO=splicing:USP47
11	12277191	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MICAL2:NM_014632:exon23:c.T2849G:p.L950R,;ANNO=splicing:MICAL2
11	12313845	.	G	A	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MICALCL(NM_032867:c.129+1G>A)
11	12903443	.	C	T	100	PASS	AC=9150;STUDIES=20;MAC=9150;MAF=0.415;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TEAD1:NM_021961:exon8:c.C513T:p.D171D,;ANNO=splicing:TEAD1
11	12904671	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TEAD1:NM_021961:exon9:c.C698T:p.S233L,;ANNO=splicing:TEAD1
11	14280827	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPON1:NM_006108:exon12:c.C1493T:p.T498M,;ANNO=splicing:SPON1
11	14316410	.	T	A	100	PASS	AC=58;STUDIES=2;MAC=58;MAF=0.172;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RRAS2(NM_012250:c.196-2A>T,NM_001177314:c.91-2A>T)
11	14496161	.	T	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COPB1:NM_016451:exon14:c.A1617T:p.R539S,COPB1:NM_001144061:exon14:c.A1617T:p.R539S,COPB1:NM_001144062:exon14:c.A1617T:p.R539S,;ANNO=splicing:COPB1
11	14990543	.	G	T	100	PASS	AC=795;STUDIES=19;MAC=795;MAF=0.036;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CALCA:NM_001741:exon4:c.C228A:p.S76R,CALCA:NM_001033952:exon4:c.C228A:p.S76R,;ANNO=splicing:CALCA
11	15170676	.	G	A	100	PASS	AC=21;STUDIES=6;MAC=21;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:INSC:NM_001031853:exon2:c.G97A:p.G33S,;ANNO=splicing:INSC
11	15170776	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:INSC:NM_001042536:exon2:c.G56A:p.R19Q,INSC:NM_001031853:exon2:c.G197A:p.R66Q,;ANNO=splicing:INSC
11	15261991	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:INSC(NM_001031853:c.1534-2A>G,NM_001042536:c.1393-2A>G)
11	16824599	.	C	T	100	PASS	AC=146;STUDIES=19;MAC=146;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLEKHA7:NM_175058:exon15:c.G2077A:p.V693I,;ANNO=splicing:PLEKHA7
11	17134212	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PIK3C2A:NM_002645:exon20:c.C3323T:p.S1108L,;ANNO=splicing:PIK3C2A
11	17150848	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PIK3C2A:NM_002645:exon12:c.C2398T:p.R800W,;ANNO=splicing:PIK3C2A
11	17333663	.	G	A	100	PASS	AC=22896;STUDIES=20;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NUCB2(NM_005013:c.907+1G>A)
11	17336926	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NUCB2(NM_005013:c.907-2T>C)
11	17436060	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCC8:NM_000352:exon19:c.C2389T:p.R797W,;ANNO=splicing:ABCC8
11	17450217	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ABCC8:NM_000352:exon13:c.C1818T:p.S606S,;ANNO=splicing:ABCC8
11	17523487	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:USH1C:NM_153676:exon21:c.T2225C:p.M742T,USH1C:NM_005709:exon16:c.T1325C:p.M442T,;ANNO=splicing:USH1C
11	17527497	.	C	T	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:USH1C(NM_153676:c.2013-1G>A)
11	17544759	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:USH1C:NM_153676:exon11:c.C875G:p.A292G,USH1C:NM_005709:exon11:c.C875G:p.A292G,;ANNO=splicing:USH1C
11	17548878	.	C	T	100	PASS	AC=182;STUDIES=6;MAC=182;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:USH1C:NM_153676:exon5:c.G388A:p.V130I,USH1C:NM_005709:exon5:c.G388A:p.V130I,;ANNO=splicing:USH1C
11	17809598	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:SERGEF
11	18047123	.	G	A	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TPH1:NM_004179:exon7:c.C929T:p.T310M,;ANNO=splicing:TPH1
11	18105280	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SAAL1(NM_138421:c.1042-2A>G)
11	18287809	.	G	A	100	PASS	AC=131;STUDIES=2;MAC=131;MAF=0.066;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:SAA1
11	18290880	.	C	G	100	PASS	AC=11820;STUDIES=17;MAC=296;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:SAA1(NM_001178006:c.228+2C>G,NM_000331:c.228+2C>G,NM_199161:c.228+2C>G)
11	18309440	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HPS5:NM_181508:exon16:c.G2219A:p.R740Q,HPS5:NM_007216:exon16:c.G2219A:p.R740Q,HPS5:NM_181507:exon17:c.G2561A:p.R854Q,;ANNO=splicing:HPS5
11	18314522	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HPS5:NM_181508:exon14:c.G1444A:p.E482K,HPS5:NM_007216:exon14:c.G1444A:p.E482K,HPS5:NM_181507:exon15:c.G1786A:p.E596K,;ANNO=splicing:HPS5
11	18369135	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:GTF2H1:NM_001142307:exon9:c.G838A:p.G280S,GTF2H1:NM_005316:exon8:c.G838A:p.G280S,;ANNO=splicing:GTF2H1
11	18497187	.	G	A	100	PASS	AC=13;STUDIES=8;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LDHAL6A(NM_001144071:c.592+1G>A,NM_144972:c.592+1G>A)
11	18536225	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=synonymous:TSG101:NM_006292:exon4:c.C357T:p.H119H,;ANNO=nonsynonymous:TSG101:NM_006292:exon4:c.C357G:p.H119Q,;ANNO=splicing:TSG101;ANNO=splicing:TSG101
11	18555876	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UEVLD(NM_001040697:c.1248+1G>A)
11	18587894	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UEVLD:NM_001040697:exon5:c.G493A:p.G165S,UEVLD:NM_018314:exon5:c.G493A:p.G165S,;ANNO=splicing:UEVLD
11	18741652	.	T	A	100	PASS	AC=42;STUDIES=11;MAC=42;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IGSF22(NM_173588:c.478-2A>T)
11	18741831	.	A	C	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IGSF22:NM_173588:exon5:c.T380G:p.L127R,;ANNO=splicing:IGSF22
11	18764870	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PTPN5:NM_032781:exon5:c.C398T:p.T133M,PTPN5:NM_006906:exon5:c.C398T:p.T133M,PTPN5:NM_001039970:exon5:c.C302T:p.T101M,;ANNO=splicing:PTPN5
11	18787432	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PTPN5(NM_006906:c.20-2A>T,NM_032781:c.20-2A>T,NM_001039970:c.20-2A>T)
11	19164670	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZDHHC13:NM_019028:exon2:c.A173G:p.Q58R,;ANNO=splicing:ZDHHC13
11	19167850	.	A	G	100	PASS	AC=10582;STUDIES=17;MAC=5072;MAF=0.324;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=4;ANNO=nonsynonymous:ZDHHC13:NM_019028:exon3:c.A296G:p.K99R,;ANNO=splicing:ZDHHC13
11	19256605	.	T	C	100	PASS	AC=9;STUDIES=8;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:E2F8:NM_024680:exon5:c.A452G:p.N151S,;ANNO=splicing:E2F8
11	19259401	.	G	C	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:E2F8:NM_024680:exon3:c.C294G:p.H98Q,;ANNO=splicing:E2F8
11	20077315	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NAV2:NM_001111018:exon19:c.C4451T:p.A1484V,NAV2:NM_145117:exon19:c.C4643T:p.A1548V,NAV2:NM_182964:exon19:c.C4643T:p.A1548V,NAV2:NM_001111019:exon8:c.C1835T:p.A612V,;ANNO=splicing:NAV2
11	20083905	.	A	C	100	PASS	AC=95;STUDIES=13;MAC=95;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NAV2:NM_001111018:exon20:c.A4692C:p.T1564T,NAV2:NM_145117:exon20:c.A4884C:p.T1628T,NAV2:NM_182964:exon20:c.A4884C:p.T1628T,NAV2:NM_001111019:exon9:c.A2076C:p.T692T,;ANNO=splicing:NAV2
11	20089944	.	T	C	100	PASS	AC=5569;STUDIES=22;MAC=5569;MAF=0.230;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NAV2:NM_001111018:exon22:c.T4791C:p.N1597N,NAV2:NM_145117:exon22:c.T4983C:p.N1661N,NAV2:NM_182964:exon22:c.T4983C:p.N1661N,NAV2:NM_001111019:exon11:c.T2175C:p.N725N,;ANNO=splicing:NAV2
11	20101610	.	G	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NAV2:NM_001111018:exon25:c.G4988C:p.G1663A,NAV2:NM_145117:exon25:c.G5180C:p.G1727A,NAV2:NM_182964:exon25:c.G5180C:p.G1727A,NAV2:NM_001111019:exon14:c.G2372C:p.G791A,;ANNO=splicing:NAV2
11	20388826	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HTATIP2:NM_001098520:exon3:c.C404T:p.A135V,HTATIP2:NM_001098522:exon2:c.C302T:p.A101V,HTATIP2:NM_001098523:exon2:c.C302T:p.A101V,HTATIP2:NM_006410:exon3:c.C302T:p.A101V,HTATIP2:NM_001098521:exon3:c.C302T:p.A101V,;ANNO=splicing:HTATIP2
11	20413757	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRMT3:NM_005788:exon4:c.G248A:p.G83E,PRMT3:NM_001145167:exon3:c.G17A:p.G6E,;ANNO=splicing:PRMT3
11	20625832	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC6A5:NM_004211:exon3:c.G541A:p.E181K,;ANNO=splicing:SLC6A5
11	20648387	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC6A5:NM_004211:exon8:c.C1394T:p.T465M,;ANNO=splicing:SLC6A5
11	20668480	.	C	T	100	PASS	AC=62;STUDIES=15;MAC=62;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC6A5:NM_004211:exon14:c.C2070T:p.T690T,;ANNO=splicing:SLC6A5
11	22242755	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ANO5:NM_001142649:exon5:c.C290T:p.A97V,ANO5:NM_213599:exon5:c.C293T:p.A98V,;ANNO=splicing:ANO5
11	22242756	.	G	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ANO5:NM_001142649:exon5:c.G291A:p.A97A,ANO5:NM_213599:exon5:c.G294A:p.A98A,;ANNO=splicing:ANO5
11	22284590	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANO5(NM_001142649:c.1895+1G>A,NM_213599:c.1898+1G>A)
11	22844681	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SVIP(NM_148893:c.219-2A>G)
11	24927598	.	A	C	100	PASS	AC=22;STUDIES=6;MAC=22;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LUZP2:NM_001009909:exon6:c.A458C:p.E153A,;ANNO=splicing:LUZP2
11	26465310	.	A	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANO3(NM_031418:c.241-2A>C)
11	26734188	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC5A12:NM_178498:exon2:c.G405A:p.T135T,;ANNO=splicing:SLC5A12
11	27114715	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BBOX1:NM_003986:exon5:c.A335G:p.E112G,;ANNO=splicing:BBOX1
11	27137000	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BBOX1:NM_003986:exon6:c.C535T:p.H179Y,;ANNO=splicing:BBOX1
11	28045398	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIF18A(NM_031217:c.2504-1G>A)
11	30902856	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DCDC5(NM_020869:c.2394-1G>C)
11	30928272	.	C	A	100	PASS	AC=8;STUDIES=7;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:DCDC5:NM_020869:exon11:c.G1240T:p.G414X,;ANNO=splicing:DCDC5
11	30974115	.	C	A	100	PASS	AC=1396;STUDIES=15;MAC=1396;MAF=0.086;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:DCDC5
11	31284619	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DCDC1:NM_181807:exon9:c.A1056G:p.G352G,;ANNO=splicing:DCDC1
11	31327934	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DCDC1:NM_181807:exon5:c.G436T:p.V146F,;ANNO=splicing:DCDC1
11	31815201	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PAX6:NM_001127612:exon10:c.G915A:p.P305P,PAX6:NM_000280:exon10:c.G915A:p.P305P,PAX6:NM_001604:exon11:c.G957A:p.P319P,;ANNO=splicing:PAX6
11	32861784	.	T	C	100	PASS	AC=19;STUDIES=5;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PRRG4:NM_024081:exon5:c.A448C:p.S150R,;ANNO=splicing:PRRG4
11	32874843	.	T	A	100	PASS	AC=41;STUDIES=5;MAC=41;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRRG4:NM_024081:exon6:c.C451A:p.R151S,;ANNO=splicing:PRRG4
11	33094021	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TCP11L1:NM_001145541:exon10:c.A1329G:p.E443E,TCP11L1:NM_018393:exon10:c.A1329G:p.E443E,;ANNO=splicing:TCP11L1
11	33374639	.	T	C	100	PASS	AC=37;STUDIES=4;MAC=37;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HIPK3:NM_001048200:exon16:c.T3110C:p.V1037A,HIPK3:NM_005734:exon17:c.T3173C:p.V1058A,;ANNO=splicing:HIPK3
11	33604885	.	C	T	100	PASS	AC=3784;STUDIES=18;MAC=3784;MAF=0.200;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C11orf41:NM_012194:exon10:c.C3513T:p.P1171P,;ANNO=splicing:C11orf41
11	33682560	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C11orf41:NM_012194:exon19:c.G5268A:p.S1756S,;ANNO=splicing:C11orf41
11	33731888	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CD59:NM_001127225:exon4:c.G171A:p.G57G,CD59:NM_203330:exon6:c.G171A:p.G57G,CD59:NM_001127226:exon4:c.G171A:p.G57G,CD59:NM_001127227:exon4:c.G171A:p.G57G,CD59:NM_203329:exon5:c.G171A:p.G57G,CD59:NM_001127223:exon3:c.G171A:p.G57G,CD59:NM_000611:exon4:c.G171A:p.G57G,CD59:NM_203331:exon5:c.G171A:p.G57G,;ANNO=splicing:CD59
11	34139840	.	C	T	100	PASS	AC=57;STUDIES=7;MAC=57;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NAT10:NM_001144030:exon5:c.C455T:p.P152L,NAT10:NM_024662:exon7:c.C671T:p.P224L,;ANNO=splicing:NAT10
11	34153769	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NAT10(NM_001144030:c.1401+1G>A,NM_024662:c.1617+1G>A)
11	34156722	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NAT10:NM_001144030:exon17:c.A1696G:p.M566V,NAT10:NM_024662:exon19:c.A1912G:p.M638V,;ANNO=splicing:NAT10
11	34161948	.	C	A	100	PASS	AC=58;STUDIES=10;MAC=58;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NAT10:NM_001144030:exon22:c.C2205A:p.A735A,NAT10:NM_024662:exon24:c.C2421A:p.A807A,;ANNO=splicing:NAT10
11	34167629	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NAT10(NM_001144030:c.2753-2A>G,NM_024662:c.2969-2A>G)
11	34460472	.	A	T	100	PASS	AC=1112;STUDIES=3;MAC=918;MAF=0.452;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:CAT
11	34912098	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:APIP:NM_015957:exon3:c.G160A:p.D54N,;ANNO=splicing:APIP
11	34916657	.	C	T	100	PASS	AC=5473;STUDIES=20;MAC=5473;MAF=0.267;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:APIP:NM_015957:exon2:c.G58A:p.D20N,;ANNO=splicing:APIP
11	34982064	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:PDHX:NM_003477:exon5:c.G640C:p.E214Q,PDHX:NM_001135024:exon5:c.G595C:p.E199Q,;ANNO=splicing:PDHX
11	35229752	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CD44:NM_001001389:exon11:c.G1386A:p.T462T,CD44:NM_000610:exon12:c.G1515A:p.T505T,CD44:NM_001001390:exon6:c.G768A:p.T256T,;ANNO=splicing:CD44
11	35229754	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:CD44(NM_000610:c.1516+1G>A,NM_001001390:c.769+1G>A,NM_001001389:c.1387+1G>A);ANNO=splicing:CD44(NM_000610:c.1516+1G>T,NM_001001390:c.769+1G>T,NM_001001389:c.1387+1G>T)
11	35236397	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD44(NM_000610:c.1810-2A>G,NM_001202555:c.871-2A>G,NM_001202557:c.667-2A>G,NM_001001391:c.667-2A>G,NM_001001390:c.1063-2A>G,NM_001001389:c.1681-2A>G)
11	35243250	.	A	G	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CD44:NM_001202557:exon8:c.A852G:p.A284A,CD44:NM_001001389:exon16:c.A1866G:p.A622A,CD44:NM_001001391:exon8:c.A852G:p.A284A,CD44:NM_000610:exon17:c.A1995G:p.A665A,CD44:NM_001001390:exon11:c.A1248G:p.A416A,CD44:NM_001202556:exon7:c.A789G:p.A263A,CD44:NM_001202555:exon9:c.A1056G:p.A352A,;ANNO=splicing:CD44(NM_001001392:c.233-2A>G)
11	35440498	.	C	T	100	PASS	AC=15;STUDIES=8;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC1A2:NM_004171:exon1:c.G16A:p.G6S,;ANNO=splicing:SLC1A2
11	35456061	.	T	C	100	PASS	AC=3738;STUDIES=21;MAC=3738;MAF=0.159;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PAMR1:NM_001001991:exon10:c.A1625G:p.Q542R,PAMR1:NM_015430:exon11:c.A1676G:p.Q559R,;ANNO=splicing:PAMR1
11	35463028	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PAMR1(NM_001001991:c.1033+1G>T,NM_015430:c.1084+1G>T)
11	35513593	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=stopgain:PAMR1:NM_001001991:exon3:c.C379T:p.R127X,PAMR1:NM_015430:exon3:c.C379T:p.R127X,;ANNO=synonymous:PAMR1:NM_001001991:exon3:c.C379A:p.R127R,PAMR1:NM_015430:exon3:c.C379A:p.R127R,;ANNO=splicing:PAMR1;ANNO=splicing:PAMR1
11	36057654	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LDLRAD3:NM_174902:exon2:c.G48C:p.E16D,;ANNO=splicing:LDLRAD3
11	36057799	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LDLRAD3:NM_174902:exon2:c.C193T:p.P65S,;ANNO=splicing:LDLRAD3
11	36310912	.	C	T	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COMMD9:NM_001101653:exon1:c.G51A:p.K17K,COMMD9:NM_014186:exon1:c.G51A:p.K17K,;ANNO=splicing:COMMD9
11	43343536	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:API5:NM_001142930:exon5:c.G393A:p.G131G,API5:NM_001142931:exon4:c.G231A:p.G77G,API5:NM_006595:exon5:c.G393A:p.G131G,;ANNO=splicing:API5
11	44073203	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACCSL:NM_001031854:exon5:c.G706A:p.V236M,;ANNO=splicing:ACCSL
11	44073268	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ACCSL:NM_001031854:exon5:c.C771T:p.G257G,;ANNO=splicing:ACCSL
11	44104860	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACCS:NM_032592:exon13:c.A1253G:p.K418R,ACCS:NM_001127219:exon13:c.A1253G:p.K418R,;ANNO=splicing:ACCS
11	44193294	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EXT2(NM_001178083:c.1335+2T>C,NM_207122:c.1305+2T>C,NM_000401:c.1404+2T>C)
11	44621780	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:CD82:NM_001024844:exon4:c.C136T:p.Q46X,CD82:NM_002231:exon4:c.C136T:p.Q46X,;ANNO=splicing:CD82
11	44956567	.	C	T	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TP53I11:NM_006034:exon7:c.G438A:p.V146V,TP53I11:NM_001076787:exon8:c.G438A:p.V146V,;ANNO=splicing:TP53I11
11	45827886	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC35C1:NM_001145265:exon2:c.C495T:p.I165I,SLC35C1:NM_001145266:exon2:c.C495T:p.I165I,SLC35C1:NM_018389:exon1:c.C534T:p.I178I,;ANNO=splicing:SLC35C1
11	45936235	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PEX16:NM_057174:exon6:c.A461G:p.D154G,PEX16:NM_004813:exon6:c.A461G:p.D154G,;ANNO=splicing:PEX16
11	45937386	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PEX16:NM_057174:exon4:c.C227T:p.S76L,PEX16:NM_004813:exon4:c.C227T:p.S76L,;ANNO=splicing:PEX16
11	45947591	.	T	G	100	PASS	AC=59;STUDIES=3;MAC=59;MAF=0.108;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GYLTL1B:NM_152312:exon7:c.T771G:p.G257G,;ANNO=splicing:GYLTL1B
11	45957290	.	G	T	100	PASS	AC=191;STUDIES=2;MAC=191;MAF=0.176;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PHF21A:NM_001101802:exon17:c.C1682A:p.A561E,PHF21A:NM_016621:exon17:c.C1544A:p.A515E,;ANNO=splicing:PHF21A
11	46397946	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:DGKZ:NM_003646:exon23:c.C2160T:p.D720D,DGKZ:NM_001199268:exon22:c.C2091T:p.D697D,DGKZ:NM_201532:exon23:c.C2208T:p.D736D,DGKZ:NM_001199267:exon23:c.C2157T:p.D719D,DGKZ:NM_201533:exon23:c.C2172T:p.D724D,DGKZ:NM_001199266:exon23:c.C2160T:p.D720D,DGKZ:NM_001105540:exon24:c.C2724T:p.D908D,;ANNO=splicing:DGKZ
11	46748178	.	T	G	100	PASS	AC=89;STUDIES=2;MAC=89;MAF=0.118;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:F2(NM_000506:c.1003+2T>G)
11	46786806	.	T	A	100	PASS	AC=25;STUDIES=6;MAC=25;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CKAP5:NM_001008938:exon28:c.A3412T:p.S1138C,CKAP5:NM_014756:exon28:c.A3412T:p.S1138C,;ANNO=splicing:CKAP5
11	46831050	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CKAP5:NM_001008938:exon7:c.G764A:p.G255D,CKAP5:NM_014756:exon7:c.G764A:p.G255D,;ANNO=splicing:CKAP5
11	46832557	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CKAP5:NM_001008938:exon5:c.G630T:p.Q210H,CKAP5:NM_014756:exon5:c.G630T:p.Q210H,;ANNO=splicing:CKAP5
11	47179472	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C11orf49:NM_024113:exon7:c.C756T:p.L252L,C11orf49:NM_001003678:exon7:c.C756T:p.L252L,C11orf49:NM_001003677:exon7:c.C756T:p.L252L,C11orf49:NM_001003676:exon7:c.C756T:p.L252L,;ANNO=splicing:C11orf49
11	47179473	.	G	A	100	PASS	AC=10;STUDIES=8;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C11orf49:NM_024113:exon7:c.G757A:p.G253R,C11orf49:NM_001003678:exon7:c.G757A:p.G253R,C11orf49:NM_001003677:exon7:c.G757A:p.G253R,C11orf49:NM_001003676:exon7:c.G757A:p.G253R,;ANNO=splicing:C11orf49
11	47182742	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=synonymous:C11orf49:NM_001003676:exon8:c.G822C:p.L274L,;ANNO=synonymous:C11orf49:NM_001003676:exon8:c.G822T:p.L274L,;ANNO=splicing:C11orf49(NM_024113:c.821+1G>C,NM_001003678:c.821+1G>C,NM_001003677:c.821+1G>C);ANNO=splicing:C11orf49(NM_024113:c.821+1G>T,NM_001003678:c.821+1G>T,NM_001003677:c.821+1G>T)
11	47182998	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C11orf49:NM_001003677:exon9:c.C823T:p.L275F,;ANNO=splicing:C11orf49
11	47289906	.	T	A	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NR1H3:NM_001130102:exon8:c.T1062A:p.H354Q,NR1H3:NM_005693:exon9:c.T1197A:p.H399Q,NR1H3:NM_001130101:exon8:c.T1017A:p.H339Q,;ANNO=splicing:NR1H3
11	47317127	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MADD:NM_003682:exon23:c.C3597T:p.T1199T,MADD:NM_130474:exon21:c.C3354T:p.T1118T,MADD:NM_130473:exon22:c.C3543T:p.T1181T,MADD:NM_130471:exon22:c.C3414T:p.T1138T,MADD:NM_130476:exon21:c.C3483T:p.T1161T,MADD:NM_130472:exon21:c.C3354T:p.T1118T,MADD:NM_130475:exon23:c.C3597T:p.T1199T,MADD:NM_130470:exon21:c.C3483T:p.T1161T,MADD:NM_001135943:exon21:c.C3354T:p.T1118T,;ANNO=splicing:MADD
11	47345887	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MADD:NM_003682:exon32:c.C4614T:p.P1538P,MADD:NM_130474:exon29:c.C4308T:p.P1436P,MADD:NM_130473:exon30:c.C4497T:p.P1499P,MADD:NM_130471:exon30:c.C4368T:p.P1456P,MADD:NM_130476:exon29:c.C4434T:p.P1478P,MADD:NM_130472:exon29:c.C4308T:p.P1436P,MADD:NM_130475:exon32:c.C4614T:p.P1538P,MADD:NM_130470:exon29:c.C4437T:p.P1479P,MADD:NM_001135944:exon29:c.C4296T:p.P1432P,MADD:NM_001135943:exon29:c.C4305T:p.P1435P,;ANNO=splicing:MADD
11	47358943	.	G	A	100	PASS	AC=112;STUDIES=6;MAC=112;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYBPC3:NM_000256:exon23:c.C2602T:p.R868W,;ANNO=splicing:MYBPC3
11	47363543	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYBPC3:NM_000256:exon16:c.C1790T:p.A597V,;ANNO=splicing:MYBPC3
11	47434952	.	C	G	100	PASS	AC=27;STUDIES=5;MAC=27;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC39A13:NM_152264:exon5:c.C539G:p.A180G,SLC39A13:NM_001128225:exon5:c.C539G:p.A180G,;ANNO=splicing:SLC39A13
11	47508792	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CELF1:NM_001172639:exon5:c.G261T:p.G87G,CELF1:NM_198700:exon3:c.G180T:p.G60G,CELF1:NM_001172640:exon2:c.G180T:p.G60G,CELF1:NM_006560:exon3:c.G180T:p.G60G,CELF1:NM_001025596:exon2:c.G180T:p.G60G,;ANNO=splicing:CELF1
11	47595013	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KBTBD4:NM_016506:exon4:c.T1026C:p.D342D,KBTBD4:NM_018095:exon4:c.T1074C:p.D358D,;ANNO=splicing:PTPMT1
11	47703521	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AGBL2:NM_024783:exon12:c.G1915A:p.G639S,;ANNO=splicing:AGBL2
11	47731930	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AGBL2:NM_024783:exon4:c.A231G:p.L77L,;ANNO=splicing:AGBL2
11	47820015	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NUP160:NM_015231:exon24:c.G2896C:p.V966L,;ANNO=splicing:NUP160
11	48142818	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTPRJ:NM_001098503:exon4:c.G616A:p.E206K,PTPRJ:NM_002843:exon4:c.G616A:p.E206K,;ANNO=splicing:PTPRJ
11	48145166	.	G	A	100	PASS	AC=3380;STUDIES=22;MAC=3380;MAF=0.140;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PTPRJ:NM_001098503:exon5:c.G618A:p.E206E,PTPRJ:NM_002843:exon5:c.G618A:p.E206E,;ANNO=splicing:PTPRJ
11	48152011	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:PTPRJ:NM_001098503:exon8:c.C1358T:p.P453L,PTPRJ:NM_002843:exon8:c.C1358T:p.P453L,;ANNO=splicing:PTPRJ
11	48166436	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTPRJ:NM_002843:exon13:c.C2785T:p.R929W,;ANNO=splicing:PTPRJ
11	48181601	.	T	G	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTPRJ:NM_002843:exon22:c.T3558G:p.N1186K,;ANNO=splicing:PTPRJ
11	49000423	.	C	G	100	PASS	AC=501;STUDIES=2;MAC=253;MAF=0.336;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:LOC120824(NM_001206625:c.738+1G>C)
11	49227620	.	A	G	100	PASS	AC=6197;STUDIES=21;MAC=6197;MAF=0.275;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:FOLH1:NM_001193471:exon3:c.T178C:p.Y60H,FOLH1:NM_001193472:exon3:c.T178C:p.Y60H,FOLH1:NM_004476:exon2:c.T223C:p.Y75H,FOLH1:NM_001014986:exon2:c.T223C:p.Y75H,;ANNO=splicing:FOLH1
11	55029787	.	G	A	100	PASS	AC=622;STUDIES=7;MAC=622;MAF=0.101;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:TRIM48:NM_024114:exon1:c.G44A:p.R15Q,;ANNO=splicing:TRIM48
11	55033075	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:TRIM48(NM_024114:c.459-1G>A)
11	55035847	.	A	T	100	PASS	AC=115;STUDIES=17;MAC=115;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:TRIM48:NM_024114:exon4:c.A577T:p.R193W,;ANNO=splicing:TRIM48
11	55339605	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OR4C16:NM_001004701:exon1:c.T2A:p.M1K,;ANNO=splicing:OR4C16
11	55405834	.	A	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OR4P4:NM_001004124:exon1:c.A1G:p.M1V,;ANNO=splicing:OR4P4
11	55655738	.	G	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:SPRYD5:NM_032681:exon4:c.G738T:p.Q246H,;ANNO=splicing:SPRYD5
11	55797896	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OR5AS1:NM_001001921:exon1:c.T2A:p.M1K,;ANNO=splicing:OR5AS1
11	55905194	.	T	C	100	PASS	AC=18;STUDIES=10;MAC=18;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:OR8J3:NM_001004064:exon1:c.A1G:p.M1V,;ANNO=splicing:OR8J3
11	55944094	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OR5J2:NM_001005492:exon1:c.A1G:p.M1V,;ANNO=splicing:OR5J2
11	56113516	.	T	C	100	PASS	AC=16764;STUDIES=22;MAC=7420;MAF=0.307;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OR8K1:NM_001002907:exon1:c.T2C:p.M1T,;ANNO=splicing:OR8K1
11	56143963	.	A	G	100	PASS	AC=115;STUDIES=3;MAC=115;MAF=0.050;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=synonymous:OR8U1:NM_001005204:exon1:c.A864G:p.L288L,;ANNO=splicing:OR8U8(NM_001013356:c.853+1A>G)
11	56432093	.	A	T	100	PASS	AC=51;STUDIES=4;MAC=51;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stoploss:OR5AR1:NM_001004730:exon1:c.A932T:p.X311L,;ANNO=splicing:OR5AR1
11	57089266	.	C	T	100	PASS	AC=33;STUDIES=13;MAC=33;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:TNKS1BP1:NM_033396:exon2:c.G94A:p.G32S,;ANNO=splicing:TNKS1BP1
11	57097766	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SSRP1:NM_003146:exon11:c.C1434T:p.T478T,;ANNO=splicing:SSRP1
11	57103350	.	A	G	100	PASS	AC=55;STUDIES=2;MAC=55;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:SSRP1
11	57156791	.	C	T	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRG2(NM_002728:c.58-1G>A)
11	57177593	.	A	G	100	PASS	AC=824;STUDIES=21;MAC=824;MAF=0.035;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC43A3:NM_199329:exon12:c.T1062C:p.G354G,SLC43A3:NM_017611:exon12:c.T1062C:p.G354G,SLC43A3:NM_014096:exon12:c.T1062C:p.G354G,;ANNO=splicing:SLC43A3
11	57188846	.	C	G	100	PASS	AC=134;STUDIES=11;MAC=134;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC43A3:NM_199329:exon6:c.G362C:p.G121A,SLC43A3:NM_017611:exon6:c.G362C:p.G121A,SLC43A3:NM_014096:exon6:c.G362C:p.G121A,;ANNO=splicing:SLC43A3
11	57268252	.	C	T	100	PASS	AC=675;STUDIES=20;MAC=675;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC43A1:NM_003627:exon5:c.G465A:p.T155T,SLC43A1:NM_001198810:exon5:c.G465A:p.T155T,;ANNO=splicing:SLC43A1
11	57313706	.	G	T	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SMTNL1:NM_001105565:exon5:c.G1074T:p.G358G,;ANNO=splicing:SMTNL1
11	57365723	.	T	C	100	PASS	AC=216;STUDIES=9;MAC=216;MAF=0.035;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=splicing:SERPING1
11	57505139	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TMX2:NM_015959:exon2:c.C249G:p.S83S,TMX2:NM_001144012:exon2:c.C249G:p.S83S,;ANNO=splicing:TMX2
11	57505827	.	G	A	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMX2:NM_001144012:exon3:c.G252A:p.M84I,;ANNO=splicing:TMX2
11	57563200	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CTNND1:NM_001331:exon5:c.C419T:p.T140M,CTNND1:NM_001085462:exon4:c.C419T:p.T140M,CTNND1:NM_001085468:exon3:c.C116T:p.T39M,CTNND1:NM_001085459:exon5:c.C419T:p.T140M,CTNND1:NM_001206884:exon4:c.C257T:p.T86M,CTNND1:NM_001206890:exon3:c.C116T:p.T39M,CTNND1:NM_001085461:exon5:c.C419T:p.T140M,CTNND1:NM_001085458:exon5:c.C419T:p.T140M,CTNND1:NM_001206883:exon4:c.C257T:p.T86M,CTNND1:NM_001085463:exon3:c.C116T:p.T39M,CTNND1:NM_001085467:exon3:c.C116T:p.T39M,CTNND1:NM_001206887:exon4:c.C257T:p.T86M,CTNND1:NM_001085469:exon2:c.C116T:p.T39M,CTNND1:NM_001206889:exon5:c.C257T:p.T86M,CTNND1:NM_001085466:exon3:c.C116T:p.T39M,CTNND1:NM_001085460:exon5:c.C419T:p.T140M,CTNND1:NM_001085465:exon3:c.C116T:p.T39M,CTNND1:NM_001206886:exon4:c.C257T:p.T86M,CTNND1:NM_001085464:exon3:c.C116T:p.T39M,CTNND1:NM_001206888:exon4:c.C257T:p.T86M,CTNND1:NM_001206885:exon5:c.C419T:p.T140M,CTNND1:NM_001206891:exon5:c.C257T:p.T86M,;ANNO=splicing:CTNND1
11	57573934	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CTNND1:NM_001206884:exon10:c.T1716G:p.D572E,CTNND1:NM_001085458:exon11:c.T1878G:p.D626E,CTNND1:NM_001206883:exon10:c.T1716G:p.D572E,CTNND1:NM_001085463:exon9:c.T1575G:p.D525E,CTNND1:NM_001085466:exon9:c.T1575G:p.D525E,CTNND1:NM_001206885:exon11:c.T1878G:p.D626E,;ANNO=splicing:CTNND1
11	57983194	.	A	G	100	PASS	AC=7249;STUDIES=20;MAC=7249;MAF=0.338;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=1;ANNO=stoploss:OR1S1:NM_001004458:exon1:c.A978G:p.X326W,;ANNO=splicing:OR1S1
11	58338030	.	G	A	100	PASS	AC=19;STUDIES=10;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LPXN:NM_001143995:exon2:c.C185T:p.P62L,LPXN:NM_004811:exon2:c.C170T:p.P57L,;ANNO=splicing:LPXN
11	58378422	.	G	A	100	PASS	AC=503;STUDIES=16;MAC=503;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:ZFP91(NM_053023:c.617-1G>A)
11	58378424	.	A	G	100	PASS	AC=5273;STUDIES=20;MAC=5273;MAF=0.226;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:ZFP91:NM_053023:exon5:c.A619G:p.S207G,;ANNO=splicing:ZFP91(NM_001197051:c.617-2A>G)
11	58602309	.	C	T	100	PASS	AC=4720;STUDIES=21;MAC=4720;MAF=0.217;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:GLYATL2:NM_145016:exon6:c.G478A:p.E160K,;ANNO=splicing:GLYATL2
11	58723082	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GLYATL1(NM_001220494:c.491-1G>T,NM_080661:c.584-1G>T,NM_001220496:c.491-1G>T)
11	58916425	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM111A:NM_001142521:exon4:c.C80T:p.P27L,FAM111A:NM_022074:exon3:c.C80T:p.P27L,FAM111A:NM_198847:exon3:c.C80T:p.P27L,FAM111A:NM_001142519:exon4:c.C80T:p.P27L,FAM111A:NM_001142520:exon4:c.C80T:p.P27L,;ANNO=splicing:FAM111A
11	58940278	.	G	T	100	PASS	AC=4046;STUDIES=19;MAC=4046;MAF=0.199;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:DTX4:NM_015177:exon1:c.G210T:p.T70T,;ANNO=splicing:DTX4
11	59368345	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OSBP:NM_002556:exon6:c.C1126T:p.R376C,;ANNO=splicing:OSBP
11	59419113	.	C	T	100	PASS	AC=23;STUDIES=9;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:PATL1:NM_152716:exon12:c.G1428A:p.V476V,;ANNO=splicing:PATL1
11	59557993	.	C	T	100	PASS	AC=20;STUDIES=9;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:STX3:NM_001178040:exon5:c.C291T:p.S97S,STX3:NM_004177:exon5:c.C291T:p.S97S,;ANNO=splicing:STX3
11	59560645	.	G	A	100	PASS	AC=71;STUDIES=9;MAC=71;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:STX3:NM_001178040:exon7:c.G540A:p.G180G,STX3:NM_004177:exon7:c.G540A:p.G180G,;ANNO=splicing:STX3
11	59612847	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GIF(NM_005142:c.79+1G>A)
11	59623531	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TCN1:NM_001062:exon6:c.G748A:p.A250T,;ANNO=splicing:TCN1
11	59811121	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLAC1L(NM_173801:c.243+1G>T)
11	59857166	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MS4A2:NM_000139:exon2:c.G58A:p.V20M,;ANNO=splicing:MS4A2
11	59863030	.	G	A	100	PASS	AC=51;STUDIES=11;MAC=51;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MS4A2(NM_000139:c.636-1G>A)
11	59939727	.	C	G	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:MS4A6A(NM_152852:c.651-1G>C,NM_152851:c.547-1G>C)
11	59940500	.	C	T	100	PASS	AC=84;STUDIES=15;MAC=84;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MS4A6A:NM_022349:exon6:c.G652A:p.V218M,;ANNO=splicing:MS4A6A(NM_152852:c.651+1G>A,NM_152851:c.547+1G>A)
11	59947305	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MS4A6A:NM_152851:exon3:c.T281G:p.F94C,MS4A6A:NM_152852:exon3:c.T281G:p.F94C,MS4A6A:NM_022349:exon3:c.T281G:p.F94C,;ANNO=splicing:MS4A6A
11	60105215	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MS4A6E:NM_139249:exon2:c.T149C:p.V50A,;ANNO=splicing:MS4A6E
11	60165452	.	T	C	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MS4A14:NM_032597:exon2:c.T266C:p.I89T,MS4A14:NM_001079692:exon2:c.T266C:p.I89T,;ANNO=splicing:MS4A14
11	60197299	.	G	A	100	PASS	AC=1008;STUDIES=20;MAC=1008;MAF=0.043;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MS4A5:NM_023945:exon1:c.G152A:p.G51E,;ANNO=splicing:MS4A5
11	60271173	.	G	T	100	PASS	AC=175;STUDIES=8;MAC=175;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MS4A12(NM_001164470:c.333-1G>T,NM_017716:c.471-1G>T)
11	60531180	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:MS4A15
11	60540956	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MS4A15:NM_001098835:exon5:c.G497A:p.R166Q,MS4A15:NM_152717:exon4:c.G218A:p.R73Q,;ANNO=splicing:MS4A15
11	60540957	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MS4A15:NM_001098835:exon5:c.G498C:p.R166R,MS4A15:NM_152717:exon4:c.G219C:p.R73R,;ANNO=splicing:MS4A15
11	60541424	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MS4A15(NM_152717:c.333+1G>C,NM_001098835:c.612+1G>C)
11	60561575	.	C	T	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:MS4A10:NM_206893:exon5:c.C491A:p.T164K,;ANNO=nonsynonymous:MS4A10:NM_206893:exon5:c.C491T:p.T164M,;ANNO=splicing:MS4A10;ANNO=splicing:MS4A10
11	60637010	.	G	A	100	PASS	AC=53;STUDIES=14;MAC=53;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZP1:NM_207341:exon3:c.G319A:p.D107N,;ANNO=splicing:ZP1
11	60709508	.	G	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC15A3:NM_016582:exon4:c.C1106T:p.T369M,;ANNO=splicing:SLC15A3
11	60714292	.	A	C	100	PASS	AC=18;STUDIES=2;MAC=18;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC15A3:NM_016582:exon2:c.T560G:p.V187G,;ANNO=splicing:SLC15A3
11	60777045	.	G	A	100	PASS	AC=184;STUDIES=9;MAC=184;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CD6:NM_006725:exon5:c.G783A:p.E261E,;ANNO=splicing:CD6
11	61015892	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:PGA5:NM_014224:exon6:c.G658A:p.D220N,;ANNO=splicing:PGA5
11	61017285	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:PGA5:NM_014224:exon7:c.C918T:p.D306D,;ANNO=splicing:PGA5
11	61045948	.	C	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VWCE:NM_152718:exon10:c.G1325C:p.G442A,;ANNO=splicing:VWCE
11	61110130	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DAK:NM_015533:exon9:c.G775A:p.G259S,;ANNO=splicing:DAK
11	61112732	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DAK:NM_015533:exon14:c.C1241A:p.A414E,;ANNO=splicing:DAK
11	61112837	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DAK:NM_015533:exon14:c.C1346T:p.A449V,;ANNO=splicing:DAK
11	61165741	.	G	C	100	PASS	AC=12071;STUDIES=16;MAC=2295;MAF=0.160;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=3;ANNO=nonsynonymous:TMEM216:NM_016499:exon5:c.G257C:p.R86T,TMEM216:NM_001173991:exon5:c.G440C:p.R147T,;ANNO=splicing:TMEM216(NM_001173990:c.431-1G>C)
11	61249390	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C11orf66:NM_145017:exon2:c.G109A:p.G37S,C11orf66:NM_001170753:exon2:c.G109A:p.G37S,;ANNO=splicing:C11orf66
11	61254618	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C11orf66:NM_145017:exon11:c.G949C:p.E317Q,C11orf66:NM_001170753:exon10:c.G889C:p.E297Q,;ANNO=splicing:C11orf66
11	61533183	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C11orf9:NM_013279:exon2:c.C106T:p.L36F,C11orf9:NM_001127392:exon2:c.C133T:p.L45F,;ANNO=splicing:C11orf9
11	61543604	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C11orf9:NM_013279:exon9:c.C1361T:p.T454M,C11orf9:NM_001127392:exon9:c.C1388T:p.T463M,;ANNO=splicing:C11orf9
11	61547695	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C11orf9:NM_013279:exon18:c.G2311A:p.V771M,C11orf9:NM_001127392:exon18:c.G2338A:p.V780M,;ANNO=splicing:C11orf9
11	61605360	.	C	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FADS2:NM_004265:exon2:c.C318G:p.N106K,;ANNO=splicing:FADS2
11	61645058	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FADS3:NM_021727:exon7:c.C810T:p.I270I,;ANNO=splicing:FADS3
11	61646980	.	G	C	100	PASS	AC=90;STUDIES=4;MAC=90;MAF=0.104;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FADS3:NM_021727:exon3:c.C326G:p.A109G,;ANNO=splicing:FADS3
11	61665832	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RAB3IL1:NM_013401:exon10:c.C1067T:p.A356V,;ANNO=splicing:RAB3IL1
11	61907707	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:INCENP:NM_001040694:exon8:c.G1293A:p.E431E,INCENP:NM_020238:exon8:c.G1293A:p.E431E,;ANNO=splicing:INCENP
11	61959526	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SCGB1D1(NM_006552:c.55-2A>G)
11	62123797	.	G	A	100	PASS	AC=7;STUDIES=7;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ASRGL1:NM_025080:exon3:c.G191A:p.G64D,ASRGL1:NM_001083926:exon3:c.G191A:p.G64D,;ANNO=splicing:ASRGL1
11	62186622	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCGB1A1:NM_003357:exon1:c.G55A:p.A19T,;ANNO=splicing:SCGB1A1
11	62370230	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EML3(NM_153265:c.2487+1G>A)
11	62569103	.	G	C	100	PASS	AC=95;STUDIES=14;MAC=95;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NXF1:NM_006362:exon7:c.C640G:p.L214V,NXF1:NM_001081491:exon7:c.C640G:p.L214V,;ANNO=splicing:NXF1
11	62594869	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:STX5:NM_003164:exon4:c.C298T:p.R100C,;ANNO=splicing:STX5
11	62601747	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR74(NM_018093:c.775+1G>A)
11	62606707	.	T	C	100	PASS	AC=33;STUDIES=4;MAC=33;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WDR74:NM_018093:exon4:c.A172G:p.M58V,;ANNO=splicing:WDR74
11	62766561	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC22A8:NM_001184732:exon5:c.A593T:p.N198I,SLC22A8:NM_001184736:exon4:c.A224T:p.N75I,SLC22A8:NM_004254:exon5:c.A593T:p.N198I,SLC22A8:NM_001184733:exon5:c.A320T:p.N107I,;ANNO=splicing:SLC22A8
11	62910849	.	T	C	100	PASS	AC=5211;STUDIES=6;MAC=1019;MAF=0.164;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC22A24(NM_001136506:c.402+1A>G)
11	62931547	.	T	C	100	PASS	AC=42;STUDIES=4;MAC=42;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC22A25(NM_199352:c.1394-2A>G)
11	62948130	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC22A25(NM_199352:c.1070+2T>C)
11	62996038	.	T	C	100	PASS	AC=761;STUDIES=15;MAC=761;MAF=0.039;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC22A25(NM_199352:c.402-2A>G)
11	63059011	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC22A10(NM_001039752:c.402-1G>C)
11	63273999	.	G	A	100	PASS	AC=33;STUDIES=7;MAC=33;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LGALS12:NM_001142536:exon1:c.G135A:p.P45P,LGALS12:NM_033101:exon1:c.G135A:p.P45P,LGALS12:NM_001142535:exon1:c.G135A:p.P45P,;ANNO=splicing:LGALS12
11	63276026	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LGALS12:NM_001142536:exon2:c.T137A:p.V46E,LGALS12:NM_033101:exon2:c.T137A:p.V46E,LGALS12:NM_001142535:exon2:c.T137A:p.V46E,;ANNO=splicing:LGALS12
11	63279311	.	C	A	100	PASS	AC=129;STUDIES=8;MAC=129;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LGALS12:NM_001142536:exon6:c.C685A:p.H229N,LGALS12:NM_033101:exon7:c.C712A:p.H238N,LGALS12:NM_001142537:exon6:c.C529A:p.H177N,LGALS12:NM_001142535:exon7:c.C715A:p.H239N,LGALS12:NM_001142538:exon5:c.C502A:p.H168N,;ANNO=splicing:LGALS12
11	63279313	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:LGALS12(NM_001142536:c.686+1G>A,NM_033101:c.713+1G>A,NM_001142535:c.716+1G>A,NM_001142538:c.503+1G>A,NM_001142537:c.530+1G>A)
11	63398943	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATL3:NM_015459:exon12:c.G1108T:p.V370F,;ANNO=splicing:ATL3
11	63403007	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATL3:NM_015459:exon10:c.A1034T:p.Q345L,;ANNO=splicing:ATL3
11	63410966	.	A	C	100	PASS	AC=127;STUDIES=3;MAC=127;MAF=0.114;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:ATL3:NM_015459:exon8:c.T713G:p.V238G,;ANNO=splicing:ATL3
11	63713311	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NAA40(NM_024771:c.6-1G>A)
11	63974995	.	C	G	100	PASS	AC=69;STUDIES=13;MAC=69;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FERMT3:NM_178443:exon2:c.C159G:p.I53M,FERMT3:NM_031471:exon2:c.C159G:p.I53M,;ANNO=splicing:FERMT3
11	63993534	.	G	C	100	PASS	AC=2071;STUDIES=3;MAC=1;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRPT1
11	64011441	.	T	C	100	PASS	AC=23486;STUDIES=21;MAC=220;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:FKBP2:NM_057092:exon6:c.T369C:p.G123G,FKBP2:NM_001135208:exon6:c.T369C:p.G123G,FKBP2:NM_004470:exon6:c.T369C:p.G123G,;ANNO=splicing:FKBP2
11	64022785	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLCB3:NM_001184883:exon3:c.C266T:p.A89V,PLCB3:NM_000932:exon5:c.C467T:p.A156V,;ANNO=splicing:PLCB3
11	64026357	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLCB3:NM_001184883:exon10:c.G1053A:p.S351S,PLCB3:NM_000932:exon12:c.G1254A:p.S418S,;ANNO=splicing:PLCB3
11	64029547	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PLCB3:NM_001184883:exon15:c.C1836T:p.L612L,PLCB3:NM_000932:exon17:c.C2037T:p.L679L,;ANNO=splicing:PLCB3
11	64055813	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GPR137:NM_001170880:exon5:c.C785T:p.A262V,GPR137:NM_001170726:exon7:c.C959T:p.A320V,GPR137:NM_001170881:exon5:c.C635T:p.A212V,GPR137:NM_020155:exon5:c.C785T:p.A262V,GPR137:NM_001177358:exon6:c.C785T:p.A262V,;ANNO=splicing:GPR137
11	64064472	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KCNK4:NM_033310:exon3:c.C312T:p.I104I,;ANNO=splicing:KCNK4
11	64109466	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CCDC88B:NM_032251:exon8:c.C676A:p.R226R,;ANNO=splicing:CCDC88B
11	64367362	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC22A12:NM_153378:exon7:c.G622A:p.E208K,SLC22A12:NM_144585:exon7:c.G1285A:p.E429K,;ANNO=splicing:SLC22A12
11	64368207	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC22A12:NM_153378:exon9:c.G732A:p.R244R,SLC22A12:NM_144585:exon9:c.G1395A:p.R465R,;ANNO=splicing:SLC22A12
11	64402743	.	G	A	100	PASS	AC=19;STUDIES=4;MAC=19;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NRXN2:NM_138734:exon2:c.C447T:p.I149I,NRXN2:NM_015080:exon18:c.C3585T:p.I1195I,NRXN2:NM_138732:exon16:c.C3465T:p.I1155I,;ANNO=splicing:NRXN2
11	64521154	.	G	C	100	PASS	AC=683;STUDIES=8;MAC=683;MAF=0.096;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PYGM:NM_001164716:exon9:c.C976G:p.R326G,PYGM:NM_005609:exon11:c.C1240G:p.R414G,;ANNO=splicing:PYGM
11	64521496	.	G	A	100	PASS	AC=10;STUDIES=8;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PYGM:NM_001164716:exon8:c.C830T:p.A277V,PYGM:NM_005609:exon10:c.C1094T:p.A365V,;ANNO=splicing:PYGM
11	64525251	.	C	T	100	PASS	AC=40;STUDIES=10;MAC=40;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PYGM:NM_001164716:exon3:c.G396A:p.Q132Q,PYGM:NM_005609:exon5:c.G660A:p.Q220Q,;ANNO=splicing:PYGM
11	64557866	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MAP4K2:NM_004579:exon28:c.C2161T:p.R721C,;ANNO=splicing:MAP4K2
11	64566893	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MAP4K2:NM_004579:exon14:c.G1053A:p.P351P,;ANNO=splicing:MAP4K2
11	64600299	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CDC42BPG:NM_017525:exon25:c.C2864T:p.S955L,;ANNO=splicing:CDC42BPG
11	64698961	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PPP2R5B:NM_006244:exon9:c.C945T:p.H315H,;ANNO=splicing:PPP2R5B
11	64702347	.	C	T	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GPHA2(NM_130769:c.288-1G>A)
11	64702461	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GPHA2(NM_130769:c.288+2T>C)
11	64717214	.	C	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C11orf85(NM_001037225:c.349+1G>T)
11	64789194	.	T	C	100	PASS	AC=13279;STUDIES=21;MAC=9123;MAF=0.407;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:ARL2:NM_001667:exon5:c.T422C:p.V141A,ARL2:NM_001199745:exon4:c.T341C:p.V114A,;ANNO=splicing:ARL2
11	64813918	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NAALADL1:NM_005468:exon14:c.G1680A:p.P560P,;ANNO=splicing:NAALADL1
11	64815038	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NAALADL1(NM_005468:c.1508-1G>A)
11	64821720	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NAALADL1(NM_005468:c.992+2T>C)
11	64821826	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:NAALADL1:NM_005468:exon6:c.T888A:p.C296X,;ANNO=splicing:NAALADL1
11	64854545	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZFPL1:NM_006782:exon6:c.C627T:p.H209H,;ANNO=splicing:ZFPL1
11	64891972	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MRPL49(NM_004927:c.78-2A>G)
11	64902002	.	C	A	100	PASS	AC=261;STUDIES=2;MAC=261;MAF=0.142;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:SYVN1
11	64937708	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPDYC:NM_001008778:exon1:c.T2C:p.M1T,;ANNO=splicing:SPDYC
11	64950441	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CAPN1(NM_001198868:c.267+2T>C,NM_001198869:c.267+2T>C,NM_005186:c.267+2T>C)
11	64953809	.	C	T	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CAPN1:NM_001198868:exon6:c.C759T:p.D253D,CAPN1:NM_001198869:exon6:c.C759T:p.D253D,CAPN1:NM_005186:exon6:c.C759T:p.D253D,;ANNO=splicing:CAPN1
11	64985006	.	G	T	100	PASS	AC=18;STUDIES=3;MAC=18;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC22A20:NM_001004326:exon3:c.G486T:p.R162S,;ANNO=splicing:SLC22A20
11	64990068	.	G	A	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC22A20(NM_001004326:c.763+1G>A)
11	65294434	.	T	C	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SCYL1:NM_001048218:exon6:c.T695C:p.I232T,SCYL1:NM_020680:exon6:c.T695C:p.I232T,;ANNO=splicing:SCYL1
11	65307852	.	G	A	100	PASS	AC=270;STUDIES=8;MAC=270;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LTBP3:NM_021070:exon23:c.C3108T:p.D1036D,LTBP3:NM_001164266:exon23:c.C2757T:p.D919D,LTBP3:NM_001130144:exon23:c.C3108T:p.D1036D,;ANNO=splicing:LTBP3
11	65318874	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LTBP3:NM_021070:exon10:c.C1620T:p.P540P,LTBP3:NM_001164266:exon10:c.C1269T:p.P423P,LTBP3:NM_001130144:exon10:c.C1620T:p.P540P,;ANNO=splicing:LTBP3
11	65318944	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LTBP3:NM_021070:exon10:c.C1550T:p.P517L,LTBP3:NM_001164266:exon10:c.C1199T:p.P400L,LTBP3:NM_001130144:exon10:c.C1550T:p.P517L,;ANNO=splicing:LTBP3
11	65321172	.	C	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LTBP3:NM_021070:exon3:c.G864T:p.P288P,LTBP3:NM_001164266:exon3:c.G513T:p.P171P,LTBP3:NM_001130144:exon3:c.G864T:p.P288P,;ANNO=splicing:LTBP3
11	65348529	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EHBP1L1:NM_001099409:exon7:c.A635G:p.D212G,;ANNO=splicing:EHBP1L1
11	65393376	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PCNXL3:NM_032223:exon20:c.C3230T:p.S1077L,;ANNO=splicing:PCNXL3
11	65393524	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PCNXL3:NM_032223:exon20:c.C3378T:p.R1126R,;ANNO=splicing:PCNXL3
11	65422470	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RELA:NM_021975:exon11:c.A1035G:p.A345A,RELA:NM_001145138:exon11:c.A1026G:p.A342A,;ANNO=splicing:RELA
11	65423327	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RELA:NM_021975:exon9:c.C957T:p.S319S,RELA:NM_001145138:exon9:c.C948T:p.S316S,;ANNO=splicing:RELA
11	65487516	.	C	A	100	PASS	AC=44;STUDIES=14;MAC=44;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RNASEH2C:NM_032193:exon3:c.G468T:p.A156A,;ANNO=splicing:RNASEH2C
11	65562518	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:OVOL1:NM_004561:exon4:c.C510T:p.G170G,;ANNO=splicing:OVOL1
11	65617501	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SNX32:NM_152760:exon3:c.C252T:p.I84I,;ANNO=splicing:SNX32
11	65622918	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CFL1:NM_005507:exon4:c.G390A:p.G130G,;ANNO=splicing:CFL1
11	65649997	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CTSW:NM_001335:exon5:c.G538A:p.E180K,;ANNO=splicing:CTSW
11	65650250	.	G	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CTSW:NM_001335:exon7:c.G620A:p.S207N,;ANNO=splicing:CTSW
11	65650978	.	G	C	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CTSW(NM_001335:c.1020-1G>C)
11	65653002	.	G	A	100	PASS	AC=29;STUDIES=4;MAC=29;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FIBP:NM_004214:exon5:c.C645T:p.V215V,FIBP:NM_198897:exon5:c.C645T:p.V215V,;ANNO=splicing:FIBP
11	65787673	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CATSPER1(NM_053054:c.2064-2A>G)
11	65825525	.	A	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SF3B2:NM_006842:exon8:c.A778C:p.M260L,;ANNO=splicing:SF3B2
11	65835516	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SF3B2:NM_006842:exon20:c.G2430A:p.T810T,;ANNO=splicing:SF3B2
11	66053228	.	C	T	100	PASS	AC=118;STUDIES=15;MAC=118;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:YIF1A:NM_020470:exon5:c.G429A:p.T143T,;ANNO=splicing:YIF1A
11	66055284	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:YIF1A:NM_020470:exon3:c.A347T:p.Q116L,;ANNO=splicing:YIF1A
11	66103081	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RIN1:NM_004292:exon4:c.G455A:p.R152Q,;ANNO=splicing:RIN1
11	66136669	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC29A2:NM_001532:exon4:c.G277A:p.V93I,;ANNO=splicing:SLC29A2
11	66258965	.	G	A	100	PASS	AC=29;STUDIES=10;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DPP3:NM_005700:exon8:c.G799A:p.A267T,DPP3:NM_130443:exon8:c.G799A:p.A267T,;ANNO=splicing:DPP3
11	66260539	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DPP3:NM_005700:exon11:c.C1185T:p.Y395Y,DPP3:NM_130443:exon11:c.C1185T:p.Y395Y,;ANNO=splicing:DPP3
11	66288848	.	G	T	100	PASS	AC=38;STUDIES=2;MAC=38;MAF=0.150;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BBS1(NM_024649:c.830+1G>T)
11	66291352	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BBS1:NM_024649:exon11:c.C1109T:p.P370L,;ANNO=splicing:BBS1
11	66294120	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BBS1:NM_024649:exon13:c.G1181A:p.G394D,;ANNO=splicing:BBS1
11	66318825	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACTN3(NM_001104:c.262+1G>A)
11	66325399	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACTN3:NM_001104:exon10:c.C1127T:p.S376L,;ANNO=splicing:ACTN3
11	66329639	.	G	A	100	PASS	AC=2592;STUDIES=18;MAC=2592;MAF=0.125;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ACTN3:NM_001104:exon18:c.G2322A:p.R774R,;ANNO=splicing:ACTN3
11	66332029	.	G	A	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CTSF:NM_003793:exon11:c.C1321T:p.R441C,;ANNO=splicing:CTSF
11	66332479	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CTSF(NM_003793:c.1045-2A>C)
11	66372887	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CCS:NM_005125:exon6:c.G567A:p.K189K,;ANNO=splicing:CCS
11	66478499	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SPTBN2:NM_006946:exon8:c.C774T:p.D258D,;ANNO=splicing:SPTBN2
11	66526569	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C11orf80(NM_024650:c.523+2T>C)
11	66611230	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RCE1:NM_005133:exon2:c.G186A:p.R62R,;ANNO=splicing:RCE1
11	66620853	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PC:NM_001040716:exon13:c.C1370G:p.T457S,PC:NM_000920:exon12:c.C1370G:p.T457S,PC:NM_022172:exon11:c.C1370G:p.T457S,;ANNO=splicing:PC
11	66638787	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PC:NM_001040716:exon6:c.G486A:p.A162A,PC:NM_000920:exon5:c.G486A:p.A162A,PC:NM_022172:exon4:c.G486A:p.A162A,;ANNO=splicing:PC
11	66797648	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SYT12:NM_001177880:exon2:c.C33T:p.S11S,SYT12:NM_177963:exon2:c.C33T:p.S11S,;ANNO=splicing:SYT12
11	66813216	.	C	T	100	PASS	AC=82;STUDIES=14;MAC=82;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SYT12:NM_001177880:exon7:c.C960T:p.D320D,SYT12:NM_177963:exon7:c.C960T:p.D320D,;ANNO=splicing:SYT12
11	67048203	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ADRBK1:NM_001619:exon7:c.C504T:p.S168S,;ANNO=splicing:ADRBK1
11	67075207	.	G	A	100	PASS	AC=110;STUDIES=7;MAC=110;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SSH3:NM_017857:exon7:c.G790A:p.G264R,;ANNO=splicing:SSH3
11	67075412	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SSH3(NM_017857:c.885+2T>A)
11	67161260	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RAD9A:NM_004584:exon5:c.C448T:p.R150W,;ANNO=splicing:RAD9A
11	67163734	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RAD9A:NM_004584:exon9:c.G735A:p.R245R,;ANNO=splicing:RAD9A
11	67196712	.	G	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RPS6KB2(NM_003952:c.240+1G>C)
11	67198839	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RPS6KB2:NM_003952:exon5:c.G310A:p.A104T,;ANNO=splicing:RPS6KB2
11	67200072	.	T	G	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:RPS6KB2:NM_003952:exon6:c.T459G:p.G153G,;ANNO=splicing:RPS6KB2
11	67200513	.	T	C	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RPS6KB2:NM_003952:exon8:c.T707C:p.M236T,;ANNO=splicing:RPS6KB2
11	67200687	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RPS6KB2:NM_003952:exon9:c.G798A:p.S266S,;ANNO=splicing:RPS6KB2
11	67200812	.	C	T	100	PASS	AC=986;STUDIES=22;MAC=986;MAF=0.041;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RPS6KB2:NM_003952:exon10:c.C800T:p.P267L,;ANNO=splicing:RPS6KB2
11	67209558	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CORO1B:NM_020441:exon3:c.C203T:p.T68M,CORO1B:NM_001018070:exon4:c.C203T:p.T68M,;ANNO=splicing:CORO1B
11	67223688	.	C	T	100	PASS	AC=34;STUDIES=9;MAC=34;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CABP4:NM_145200:exon2:c.C396T:p.D132D,;ANNO=splicing:CABP4
11	67232166	.	G	A	100	PASS	AC=21;STUDIES=3;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TMEM134:NM_001078650:exon6:c.C462T:p.V154V,TMEM134:NM_001078651:exon7:c.C480T:p.V160V,TMEM134:NM_025124:exon7:c.C507T:p.V169V,;ANNO=splicing:TMEM134
11	67235060	.	C	A	100	PASS	AC=19;STUDIES=7;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMEM134:NM_001078650:exon3:c.G241T:p.D81Y,TMEM134:NM_025124:exon3:c.G241T:p.D81Y,;ANNO=splicing:TMEM134
11	67275063	.	C	T	100	PASS	AC=277;STUDIES=20;MAC=277;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:CDK2AP2:NM_005851:exon2:c.G180A:p.Q60Q,;ANNO=splicing:CDK2AP2
11	67287263	.	C	A	100	PASS	AC=23;STUDIES=9;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CABP2(NM_016366:c.637+1G>T)
11	67376023	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NDUFV1:NM_001166102:exon3:c.G129T:p.R43S,NDUFV1:NM_007103:exon3:c.G156T:p.R52S,;ANNO=splicing:NDUFV1
11	67401660	.	G	A	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TBX10:NM_005995:exon4:c.C549T:p.H183H,;ANNO=splicing:TBX10
11	67431133	.	C	T	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ALDH3B2:NM_000695:exon9:c.G973A:p.G325S,ALDH3B2:NM_001031615:exon9:c.G973A:p.G325S,;ANNO=splicing:ALDH3B2
11	67432756	.	C	T	100	PASS	AC=32;STUDIES=10;MAC=32;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ALDH3B2:NM_000695:exon7:c.G706A:p.A236T,ALDH3B2:NM_001031615:exon7:c.G706A:p.A236T,;ANNO=splicing:ALDH3B2
11	67441906	.	A	C	100	PASS	AC=1940;STUDIES=2;MAC=0;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ALDH3B2
11	67812425	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TCIRG1:NM_006019:exon10:c.A1021G:p.M341V,TCIRG1:NM_006053:exon5:c.A373G:p.M125V,;ANNO=splicing:TCIRG1
11	67816463	.	G	C	100	PASS	AC=281;STUDIES=13;MAC=281;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TCIRG1:NM_006019:exon14:c.G1672C:p.V558L,TCIRG1:NM_006053:exon9:c.G1024C:p.V342L,;ANNO=splicing:TCIRG1
11	67816547	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TCIRG1(NM_006019:c.1673-1G>A,NM_006053:c.1025-1G>A)
11	67842185	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CHKA:NM_212469:exon3:c.C575T:p.P192L,CHKA:NM_001277:exon4:c.C629T:p.P210L,;ANNO=splicing:CHKA
11	68171166	.	C	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:LRP5:NM_002335:exon8:c.C1800T:p.V600V,;ANNO=splicing:LRP5
11	68183797	.	G	A	100	PASS	AC=12;STUDIES=7;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LRP5:NM_002335:exon13:c.G2829A:p.P943P,;ANNO=splicing:LRP5
11	68512579	.	C	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MTL5:NM_001039656:exon4:c.G631T:p.V211L,MTL5:NM_004923:exon4:c.G631T:p.V211L,;ANNO=splicing:MTL5
11	68527037	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CPT1A:NM_001031847:exon18:c.G2235A:p.T745T,CPT1A:NM_001876:exon18:c.G2235A:p.T745T,;ANNO=splicing:CPT1A
11	68527693	.	C	T	100	PASS	AC=23;STUDIES=11;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CPT1A:NM_001031847:exon17:c.G2142A:p.P714P,CPT1A:NM_001876:exon17:c.G2142A:p.P714P,;ANNO=splicing:CPT1A
11	68529155	.	C	G	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CPT1A:NM_001031847:exon16:c.G1876C:p.V626L,CPT1A:NM_001876:exon16:c.G1876C:p.V626L,;ANNO=splicing:CPT1A
11	68530096	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CPT1A:NM_001031847:exon15:c.C1874T:p.T625M,CPT1A:NM_001876:exon15:c.C1874T:p.T625M,;ANNO=splicing:CPT1A
11	68665480	.	T	C	100	PASS	AC=568;STUDIES=21;MAC=568;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MRPL21:NM_181514:exon3:c.A147G:p.G49G,;ANNO=splicing:MRPL21
11	68777323	.	T	C	100	PASS	AC=6836;STUDIES=21;MAC=6836;MAF=0.290;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:MRGPRF:NM_001098515:exon2:c.A47G:p.K16R,MRGPRF:NM_145015:exon2:c.A47G:p.K16R,;ANNO=splicing:MRGPRF
11	68822264	.	C	T	100	PASS	AC=34;STUDIES=5;MAC=34;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TPCN2:NM_139075:exon3:c.C250T:p.R84W,;ANNO=splicing:TPCN2
11	68831364	.	G	A	100	PASS	AC=2281;STUDIES=21;MAC=2281;MAF=0.104;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:TPCN2:NM_139075:exon7:c.G655A:p.V219I,;ANNO=splicing:TPCN2
11	68851414	.	T	C	100	PASS	AC=18325;STUDIES=19;MAC=1749;MAF=0.087;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:TPCN2:NM_139075:exon19:c.T1691C:p.L564P,;ANNO=splicing:TPCN2
11	68853220	.	G	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TPCN2:NM_139075:exon21:c.G1920T:p.A640A,;ANNO=splicing:TPCN2
11	69462910	.	G	A	100	PASS	AC=10517;STUDIES=22;MAC=10517;MAF=0.433;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCND1:NM_053056:exon4:c.G723A:p.P241P,;ANNO=splicing:CCND1
11	70007467	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ANO1:NM_018043:exon17:c.C1779T:p.I593I,;ANNO=splicing:ANO1
11	70208593	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PPFIA1:NM_003626:exon21:c.C2864T:p.T955M,PPFIA1:NM_177423:exon21:c.C2864T:p.T955M,;ANNO=splicing:PPFIA1
11	70218321	.	A	G	100	PASS	AC=13;STUDIES=8;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:PPFIA1:NM_003626:exon22:c.A2866C:p.T956P,PPFIA1:NM_177423:exon22:c.A2866C:p.T956P,;ANNO=nonsynonymous:PPFIA1:NM_003626:exon22:c.A2866G:p.T956A,PPFIA1:NM_177423:exon22:c.A2866G:p.T956A,;ANNO=splicing:PPFIA1;ANNO=splicing:PPFIA1
11	70218322	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PPFIA1:NM_003626:exon22:c.C2867T:p.T956I,PPFIA1:NM_177423:exon22:c.C2867T:p.T956I,;ANNO=splicing:PPFIA1
11	70224300	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PPFIA1:NM_003626:exon26:c.C3549T:p.D1183D,PPFIA1:NM_177423:exon26:c.C3549T:p.D1183D,;ANNO=splicing:PPFIA1
11	70279208	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CTTN:NM_005231:exon16:c.A1268G:p.D423G,CTTN:NM_001184740:exon15:c.A1157G:p.D386G,CTTN:NM_138565:exon15:c.A1157G:p.D386G,;ANNO=splicing:CTTN
11	71146886	.	C	G	100	PASS	AC=89;STUDIES=15;MAC=89;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DHCR7(NM_001163817:c.963-1G>C,NM_001360:c.963-1G>C)
11	71169474	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NADSYN1:NM_018161:exon3:c.C147T:p.C49C,;ANNO=splicing:NADSYN1
11	71169475	.	G	A	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NADSYN1:NM_018161:exon3:c.G148A:p.G50S,;ANNO=splicing:NADSYN1
11	71189515	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NADSYN1:NM_018161:exon10:c.G873A:p.A291A,;ANNO=splicing:NADSYN1
11	71202021	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NADSYN1:NM_018161:exon17:c.A1693C:p.S565R,;ANNO=splicing:NADSYN1
11	71507064	.	C	T	100	PASS	AC=17;STUDIES=4;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:FAM86C1:NM_001099653:exon4:c.C242T:p.T81M,FAM86C1:NM_018172:exon4:c.C263T:p.T88M,FAM86C1:NM_152563:exon3:c.C161T:p.T54M,;ANNO=splicing:FAM86C1
11	71544246	.	A	G	100	PASS	AC=525;STUDIES=3;MAC=525;MAF=0.226;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:DEFB108B:NM_001002035:exon1:c.A1G:p.M1V,;ANNO=splicing:DEFB108B
11	71701763	.	G	A	100	PASS	AC=766;STUDIES=22;MAC=766;MAF=0.032;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RNF121:NM_018320:exon6:c.G627A:p.G209G,;ANNO=splicing:RNF121
11	71712828	.	A	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IL18BP(NM_173044:c.379-2A>T,NM_001039660:c.507-2A>T,NM_001039659:c.507-2A>T,NM_173042:c.507-2A>T,NM_001145057:c.507-2A>T,NM_001145055:c.235-2A>T)
11	71807767	.	A	C	100	PASS	AC=31;STUDIES=4;MAC=31;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LRTOMT(NM_001145307:c.437-2A>C)
11	71850194	.	G	A	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FOLR3(NM_000804:c.355+1G>A)
11	71906793	.	T	C	100	PASS	AC=48;STUDIES=11;MAC=48;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:FOLR1(NM_016725:c.493+2T>C,NM_016724:c.493+2T>C,NM_000802:c.493+2T>C,NM_016729:c.493+2T>C)
11	71945658	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:INPPL1:NM_001567:exon21:c.C2414T:p.T805M,;ANNO=splicing:INPPL1
11	72019648	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CLPB:NM_030813:exon9:c.C1079T:p.A360V,;ANNO=splicing:CLPB
11	72083967	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLPB(NM_030813:c.736+2T>C)
11	72083970	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CLPB:NM_030813:exon5:c.C735T:p.G245G,;ANNO=splicing:CLPB
11	72300219	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PDE2A:NM_002599:exon12:c.C939T:p.S313S,PDE2A:NM_001143839:exon11:c.C918T:p.S306S,PDE2A:NM_001146209:exon13:c.C912T:p.S304S,;ANNO=splicing:PDE2A
11	72300795	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PDE2A:NM_002599:exon11:c.C873T:p.P291P,PDE2A:NM_001143839:exon10:c.C852T:p.P284P,PDE2A:NM_001146209:exon12:c.C846T:p.P282P,;ANNO=splicing:PDE2A
11	72403798	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ARAP1:NM_001040118:exon30:c.C3987T:p.T1329T,ARAP1:NM_015242:exon28:c.C3252T:p.T1084T,;ANNO=splicing:ARAP1
11	72406763	.	A	G	100	PASS	AC=63;STUDIES=7;MAC=63;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ARAP1:NM_001040118:exon24:c.T3420C:p.S1140S,ARAP1:NM_001135190:exon21:c.T2502C:p.S834S,ARAP1:NM_015242:exon22:c.T2685C:p.S895S,;ANNO=splicing:ARAP1
11	72540348	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ATG16L2:NM_033388:exon18:c.C1773T:p.C591C,;ANNO=splicing:ATG16L2
11	72579070	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FCHSD2:NM_014824:exon13:c.T1148C:p.I383T,;ANNO=splicing:FCHSD2
11	73070879	.	G	A	100	PASS	AC=23;STUDIES=6;MAC=23;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ARHGEF17:NM_014786:exon10:c.G4088A:p.G1363E,;ANNO=splicing:ARHGEF17
11	73179451	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=synonymous:FAM168A:NM_015159:exon2:c.G69T:p.T23T,;ANNO=synonymous:FAM168A:NM_015159:exon2:c.G69A:p.T23T,;ANNO=splicing:FAM168A;ANNO=splicing:FAM168A
11	73371898	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLEKHB1(NM_021200:c.595+1G>T,NM_001130033:c.490+1G>T,NM_001130035:c.433+1G>T,NM_001130034:c.538+1G>T,NM_001130036:c.433+1G>T)
11	73584438	.	G	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:CHCHD8
11	73714871	.	C	T	100	PASS	AC=343;STUDIES=11;MAC=343;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:UCP3:NM_022803:exon6:c.G825A:p.G275G,;ANNO=splicing:UCP3(NM_003356:c.824+1G>A)
11	73745655	.	T	C	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C2CD3(NM_015531:c.5881-2A>G)
11	73759251	.	T	C	100	PASS	AC=449;STUDIES=8;MAC=449;MAF=0.041;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:C2CD3:NM_015531:exon28:c.A5494G:p.R1832G,;ANNO=splicing:C2CD3
11	73796017	.	T	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C2CD3(NM_015531:c.3910-2A>T)
11	73803633	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C2CD3:NM_015531:exon19:c.A3345G:p.R1115R,;ANNO=splicing:C2CD3
11	73824936	.	T	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C2CD3:NM_015531:exon11:c.A1732T:p.T578S,;ANNO=splicing:C2CD3
11	73964538	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PPME1:NM_016147:exon14:c.G1144A:p.V382M,;ANNO=splicing:PPME1
11	73988030	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:P4HA3:NM_182904:exon9:c.G1335A:p.T445T,;ANNO=splicing:P4HA3
11	73988031	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:P4HA3:NM_182904:exon9:c.C1334T:p.T445M,;ANNO=splicing:P4HA3
11	73990497	.	G	A	100	PASS	AC=19;STUDIES=5;MAC=19;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:P4HA3:NM_182904:exon8:c.C1111T:p.L371L,;ANNO=splicing:P4HA3
11	73997030	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:P4HA3:NM_182904:exon7:c.C934T:p.P312S,;ANNO=splicing:P4HA3
11	74345739	.	A	C	100	PASS	AC=8;STUDIES=7;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:POLD3:NM_006591:exon10:c.A1118C:p.K373T,;ANNO=splicing:POLD3
11	74421894	.	T	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CHRDL2:NM_015424:exon4:c.A432G:p.T144T,;ANNO=splicing:CHRDL2
11	74555004	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:XRRA1:NM_182969:exon18:c.G2020A:p.A674T,;ANNO=splicing:XRRA1
11	74660292	.	A	G	100	PASS	AC=690;STUDIES=2;MAC=690;MAF=0.350;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=splicing:SPCS2
11	74873700	.	G	C	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLCO2B1:NM_007256:exon2:c.G17C:p.G6A,;ANNO=splicing:SLCO2B1
11	74883614	.	G	A	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLCO2B1:NM_001145212:exon4:c.G540A:p.K180K,SLCO2B1:NM_007256:exon7:c.G972A:p.K324K,SLCO2B1:NM_001145211:exon7:c.G906A:p.K302K,;ANNO=splicing:SLCO2B1
11	75134735	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KLHL35(NM_001039548:c.1563+1G>C)
11	75151005	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GDPD5:NM_030792:exon15:c.C1475T:p.P492L,;ANNO=splicing:GDPD5
11	75188665	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GDPD5:NM_030792:exon3:c.C116T:p.P39L,;ANNO=splicing:GDPD5
11	75431038	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:MOGAT2:NM_025098:exon2:c.C93A:p.A31A,;ANNO=synonymous:MOGAT2:NM_025098:exon2:c.C93T:p.A31A,;ANNO=splicing:MOGAT2;ANNO=splicing:MOGAT2
11	75431214	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MOGAT2:NM_025098:exon2:c.C269T:p.S90L,;ANNO=splicing:MOGAT2
11	75431215	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MOGAT2:NM_025098:exon2:c.G270A:p.S90S,;ANNO=splicing:MOGAT2
11	76804729	.	G	A	100	PASS	AC=196;STUDIES=5;MAC=196;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CAPN5:NM_004055:exon3:c.G167A:p.G56D,;ANNO=splicing:CAPN5
11	76890091	.	G	A	100	PASS	AC=17;STUDIES=6;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYO7A:NM_001127179:exon20:c.G2283A:p.R761R,MYO7A:NM_000260:exon20:c.G2283A:p.R761R,MYO7A:NM_001127180:exon20:c.G2283A:p.R761R,;ANNO=splicing:MYO7A
11	76938910	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GDPD4:NM_182833:exon15:c.A1524T:p.T508T,;ANNO=splicing:GDPD4
11	76979586	.	T	G	100	PASS	AC=27;STUDIES=2;MAC=27;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GDPD4(NM_182833:c.624-2A>C)
11	76982175	.	C	G	100	PASS	AC=117;STUDIES=18;MAC=117;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GDPD4:NM_182833:exon6:c.G400C:p.V134L,;ANNO=splicing:GDPD4
11	77090939	.	C	T	100	PASS	AC=336;STUDIES=20;MAC=336;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PAK1:NM_002576:exon3:c.G291A:p.T97T,PAK1:NM_001128620:exon3:c.G291A:p.T97T,;ANNO=splicing:PAK1
11	77301657	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AQP11(NM_173039:c.619+1G>T)
11	77336763	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:CLNS1A:NM_001293:exon3:c.G363A:p.A121A,;ANNO=splicing:CLNS1A
11	77605337	.	T	G	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:INTS4:NM_033547:exon19:c.A2287C:p.R763R,;ANNO=splicing:INTS4
11	77820487	.	C	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ALG8(NM_001007027:c.1038+1G>T,NM_024079:c.1038+1G>T)
11	77825034	.	A	G	100	PASS	AC=32;STUDIES=11;MAC=32;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ALG8:NM_001007027:exon7:c.T675C:p.D225D,ALG8:NM_024079:exon7:c.T675C:p.D225D,;ANNO=splicing:ALG8
11	77832110	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ALG8(NM_001007027:c.478+1G>A,NM_024079:c.478+1G>A)
11	77961445	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GAB2:NM_012296:exon3:c.C264T:p.D88D,GAB2:NM_080491:exon3:c.C378T:p.D126D,;ANNO=splicing:GAB2
11	78204242	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NARS2(NM_024678:c.689-1G>C)
11	78239889	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NARS2:NM_024678:exon6:c.G688C:p.G230R,;ANNO=splicing:NARS2
11	78270665	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NARS2:NM_024678:exon5:c.G514A:p.D172N,;ANNO=splicing:NARS2
11	78277317	.	T	C	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.077;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NARS2:NM_024678:exon4:c.A374G:p.D125G,;ANNO=splicing:NARS2
11	78440687	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ODZ4:NM_001098816:exon22:c.C3140T:p.A1047V,;ANNO=splicing:ODZ4
11	82550304	.	T	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRCP:NM_199418:exon8:c.A1148C:p.Q383P,PRCP:NM_005040:exon7:c.A1085C:p.Q362P,;ANNO=splicing:PRCP
11	82550466	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PRCP:NM_199418:exon8:c.T986C:p.V329A,PRCP:NM_005040:exon7:c.T923C:p.V308A,;ANNO=splicing:PRCP
11	82641315	.	C	T	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C11orf82:NM_145018:exon5:c.C392T:p.T131M,;ANNO=splicing:C11orf82
11	82895721	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PCF11:NM_015885:exon16:c.A4453T:p.T1485S,;ANNO=splicing:PCF11
11	82938790	.	T	G	100	PASS	AC=261;STUDIES=11;MAC=261;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=synonymous:ANKRD42:NM_182603:exon7:c.T705G:p.T235T,;ANNO=splicing:ANKRD42
11	82951977	.	G	C	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANKRD42(NM_182603:c.1111+1G>C)
11	83180415	.	A	G	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DLG2:NM_001142700:exon17:c.T1770C:p.H590H,DLG2:NM_001364:exon20:c.T2133C:p.H711H,DLG2:NM_001206769:exon19:c.T2250C:p.H750H,DLG2:NM_001142702:exon8:c.T525C:p.H175H,DLG2:NM_001142699:exon25:c.T2448C:p.H816H,;ANNO=splicing:DLG2
11	83962281	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DLG2:NM_001364:exon3:c.T258C:p.Y86Y,DLG2:NM_001206769:exon2:c.T375C:p.Y125Y,DLG2:NM_001142699:exon8:c.T573C:p.Y191Y,;ANNO=splicing:DLG2
11	85345324	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM126B(NM_018480:c.397+1G>A,NM_001193538:c.307+1G>A,NM_001193537:c.337+1G>A)
11	85365107	.	G	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM126A:NM_032273:exon3:c.G87C:p.R29S,;ANNO=splicing:TMEM126A
11	85420374	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SYTL2:NM_206929:exon6:c.C326T:p.P109L,SYTL2:NM_032379:exon3:c.C326T:p.P109L,SYTL2:NM_206930:exon3:c.C293T:p.P98L,SYTL2:NM_032943:exon13:c.C1928T:p.P643L,SYTL2:NM_001162952:exon4:c.C206T:p.P69L,SYTL2:NM_206927:exon7:c.C3014T:p.P1005L,SYTL2:NM_206928:exon6:c.C2966T:p.P989L,SYTL2:NM_001162951:exon12:c.C2000T:p.P667L,SYTL2:NM_001162953:exon12:c.C2003T:p.P668L,;ANNO=splicing:SYTL2
11	85420542	.	A	C	100	PASS	AC=89;STUDIES=7;MAC=89;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYTL2:NM_206929:exon6:c.T158G:p.V53G,SYTL2:NM_032379:exon3:c.T158G:p.V53G,SYTL2:NM_206930:exon3:c.T125G:p.V42G,SYTL2:NM_032943:exon13:c.T1760G:p.V587G,SYTL2:NM_001162952:exon4:c.T38G:p.V13G,SYTL2:NM_206927:exon7:c.T2846G:p.V949G,SYTL2:NM_206928:exon6:c.T2798G:p.V933G,SYTL2:NM_001162951:exon12:c.T1832G:p.V611G,SYTL2:NM_001162953:exon12:c.T1835G:p.V612G,;ANNO=splicing:SYTL2
11	85447657	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SYTL2:NM_001162953:exon5:c.A473G:p.Q158R,;ANNO=splicing:SYTL2(NM_032943:c.471-2A>G,NM_001162951:c.471-2A>G)
11	86111720	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCDC81:NM_021827:exon6:c.A488C:p.D163A,CCDC81:NM_001156474:exon7:c.A758C:p.D253A,;ANNO=splicing:CCDC81
11	86131094	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC81:NM_021827:exon13:c.C1546T:p.R516W,CCDC81:NM_001156474:exon14:c.C1816T:p.R606W,;ANNO=splicing:CCDC81
11	88386336	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GRM5:NM_000842:exon4:c.A1147G:p.S383G,GRM5:NM_001143831:exon3:c.A1147G:p.S383G,;ANNO=splicing:GRM5
11	89106599	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NOX4(NM_001143837:c.1063+1G>A,NM_016931:c.1135+1G>A,NM_001143836:c.1135+1G>A)
11	89135492	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NOX4(NM_001143837:c.774+2T>C,NM_016931:c.846+2T>C,NM_001143836:c.846+2T>C)
11	89182609	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NOX4:NM_016931:exon4:c.A348G:p.S116S,NOX4:NM_001143837:exon7:c.A276G:p.S92S,NOX4:NM_001143836:exon4:c.A348G:p.S116S,;ANNO=splicing:NOX4
11	89420607	.	G	A	100	PASS	AC=1148;STUDIES=16;MAC=1148;MAF=0.061;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:FOLH1B(NM_153696:c.608+1G>A)
11	89606435	.	C	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:TRIM64B(NM_001164397:c.758+1G>A)
11	89645253	.	C	T	100	PASS	AC=186;STUDIES=2;MAC=186;MAF=0.117;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:LOC399939:NM_001206627:exon6:c.G861A:p.V287V,TRIM49L1:NM_001105522:exon7:c.G861A:p.V287V,;ANNO=splicing:LOC399939,TRIM49L1
11	89665555	.	G	A	100	PASS	AC=37;STUDIES=2;MAC=37;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:LOC399939:NM_001206627:exon6:c.G861A:p.V287V,;ANNO=splicing:LOC399939
11	89885467	.	T	C	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NAALAD2:NM_005467:exon6:c.T611C:p.V204A,;ANNO=splicing:NAALAD2
11	92887445	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC36A4(NM_152313:c.1037-2A>G)
11	92913963	.	T	A	100	PASS	AC=28;STUDIES=6;MAC=28;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC36A4:NM_152313:exon6:c.A540T:p.Q180H,;ANNO=splicing:SLC36A4
11	92914858	.	G	A	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC36A4:NM_152313:exon5:c.C454T:p.R152W,;ANNO=splicing:SLC36A4
11	93170710	.	C	T	100	PASS	AC=17;STUDIES=6;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC67:NM_181645:exon14:c.C1640T:p.S547F,;ANNO=splicing:CCDC67
11	93408831	.	G	A	100	PASS	AC=7803;STUDIES=8;MAC=241;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1731:NM_033395:exon6:c.G623A:p.R208Q,;ANNO=splicing:KIAA1731
11	93470231	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TAF1D:NM_024116:exon4:c.A634G:p.T212A,;ANNO=splicing:TAF1D
11	93528225	.	G	A	100	PASS	AC=22;STUDIES=11;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MED17:NM_004268:exon6:c.G1011A:p.P337P,;ANNO=splicing:MED17
11	93819142	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HEPHL1(NM_001098672:c.1867-1G>A)
11	94039677	.	A	G	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FOLR4(NM_001199206:c.138-2A>G)
11	94225949	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MRE11A:NM_005591:exon2:c.C19T:p.L7F,MRE11A:NM_005590:exon2:c.C19T:p.L7F,;ANNO=splicing:MRE11A
11	94349659	.	G	A	100	PASS	AC=14;STUDIES=6;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PIWIL4:NM_152431:exon16:c.G1944A:p.R648R,;ANNO=splicing:PIWIL4
11	94353053	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PIWIL4(NM_152431:c.2294+2C>T)
11	94353310	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PIWIL4:NM_152431:exon19:c.G2442A:p.P814P,;ANNO=splicing:PIWIL4
11	94906505	.	C	T	100	PASS	AC=11;STUDIES=10;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SESN3:NM_144665:exon10:c.G1393A:p.V465I,;ANNO=splicing:SESN3
11	95502106	.	A	C	100	PASS	AC=629;STUDIES=2;MAC=629;MAF=0.319;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:FAM76B
11	95521726	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM76B:NM_144664:exon2:c.A89G:p.E30G,;ANNO=splicing:FAM76B
11	95578117	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MTMR2:NM_201278:exon13:c.A1170G:p.L390L,MTMR2:NM_016156:exon11:c.A1386G:p.L462L,MTMR2:NM_201281:exon12:c.A1170G:p.L390L,;ANNO=splicing:MTMR2
11	95591795	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MTMR2:NM_201278:exon8:c.A254C:p.D85A,MTMR2:NM_016156:exon6:c.A470C:p.D157A,MTMR2:NM_201281:exon7:c.A254C:p.D85A,;ANNO=splicing:MTMR2
11	99715819	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CNTN5:NM_175566:exon5:c.A180G:p.R60R,CNTN5:NM_014361:exon6:c.A402G:p.R134R,;ANNO=splicing:CNTN5
11	99931945	.	C	G	100	PASS	AC=14;STUDIES=8;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CNTN5:NM_175566:exon9:c.C760G:p.P254A,CNTN5:NM_014361:exon10:c.C982G:p.P328A,;ANNO=splicing:CNTN5
11	100792335	.	G	A	100	PASS	AC=547;STUDIES=7;MAC=547;MAF=0.069;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGAP42:NM_152432:exon6:c.G597A:p.P199P,;ANNO=splicing:ARHGAP42
11	101375528	.	G	A	100	PASS	AC=31;STUDIES=15;MAC=31;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRPC6:NM_004621:exon2:c.C172T:p.R58W,;ANNO=splicing:TRPC6
11	101849078	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1377:NM_020802:exon7:c.G2846A:p.G949E,;ANNO=splicing:KIAA1377
11	102248482	.	G	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BIRC2(NM_001166:c.1621+1G>T)
11	102465490	.	T	A	100	PASS	AC=27;STUDIES=10;MAC=27;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MMP20(NM_004771:c.953-2A>T)
11	102477267	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MMP20:NM_004771:exon6:c.C952T:p.R318W,;ANNO=splicing:MMP20
11	102479669	.	G	A	100	PASS	AC=279;STUDIES=7;MAC=279;MAF=0.032;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MMP20:NM_004771:exon5:c.C810T:p.Y270Y,;ANNO=splicing:MMP20
11	102564798	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MMP27(NM_022122:c.1033-2A>G)
11	102573700	.	C	T	100	PASS	AC=18;STUDIES=4;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MMP27(NM_022122:c.490+1G>A)
11	102575508	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MMP27(NM_022122:c.102-2A>T)
11	102576468	.	C	A	100	PASS	AC=1601;STUDIES=9;MAC=1601;MAF=0.210;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:MMP27
11	102584484	.	C	T	100	PASS	AC=22;STUDIES=8;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MMP8(NM_002424:c.1294+1G>A)
11	102585288	.	T	G	100	PASS	AC=13;STUDIES=7;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MMP8:NM_002424:exon8:c.A1189C:p.R397R,;ANNO=splicing:MMP8
11	102587151	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MMP8(NM_002424:c.784-1G>A)
11	102587152	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MMP8(NM_002424:c.784-2A>G)
11	102649482	.	T	C	100	PASS	AC=292;STUDIES=16;MAC=292;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MMP10(NM_002425:c.496-2A>G)
11	102661252	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MMP1:NM_001145938:exon10:c.G1103T:p.G368V,MMP1:NM_002421:exon10:c.G1301T:p.G434V,;ANNO=splicing:MMP1
11	102661433	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MMP1(NM_002421:c.1300+1G>T,NM_001145938:c.1102+1G>T)
11	102661435	.	A	G	100	PASS	AC=28;STUDIES=2;MAC=28;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MMP1:NM_001145938:exon9:c.T1101C:p.D367D,MMP1:NM_002421:exon9:c.T1299C:p.D433D,;ANNO=splicing:MMP1
11	102661537	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MMP1:NM_001145938:exon9:c.G999A:p.R333R,MMP1:NM_002421:exon9:c.G1197A:p.R399R,;ANNO=splicing:MMP1
11	102662065	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MMP1:NM_001145938:exon8:c.A997G:p.R333G,MMP1:NM_002421:exon8:c.A1195G:p.R399G,;ANNO=splicing:MMP1
11	102667986	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MMP1(NM_002421:c.350+1G>A,NM_001145938:c.152+1G>A)
11	102668717	.	A	G	100	PASS	AC=32;STUDIES=11;MAC=32;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MMP1(NM_002421:c.105+2T>C)
11	102710840	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MMP3:NM_002422:exon6:c.A934C:p.R312R,;ANNO=splicing:MMP3
11	102710982	.	T	C	100	PASS	AC=83;STUDIES=18;MAC=83;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MMP3:NM_002422:exon6:c.A792G:p.G264G,;ANNO=splicing:MMP3
11	102712886	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MMP3:NM_002422:exon4:c.A624G:p.T208T,;ANNO=splicing:MMP3
11	102825010	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MMP13:NM_002427:exon4:c.A512G:p.E171G,;ANNO=splicing:MMP13
11	102988361	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DYNC2H1:NM_001377:exon6:c.T768C:p.G256G,DYNC2H1:NM_001080463:exon6:c.T768C:p.G256G,;ANNO=splicing:DYNC2H1
11	102992224	.	A	C	100	PASS	AC=77;STUDIES=13;MAC=77;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DYNC2H1:NM_001377:exon10:c.A1484C:p.K495T,DYNC2H1:NM_001080463:exon10:c.A1484C:p.K495T,;ANNO=splicing:DYNC2H1
11	103086586	.	A	G	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DYNC2H1:NM_001377:exon55:c.A8831G:p.Q2944R,DYNC2H1:NM_001080463:exon55:c.A8831G:p.Q2944R,;ANNO=splicing:DYNC2H1
11	103126969	.	A	G	100	PASS	AC=147;STUDIES=8;MAC=147;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DYNC2H1:NM_001377:exon68:c.A10461G:p.Q3487Q,DYNC2H1:NM_001080463:exon69:c.A10482G:p.Q3494Q,;ANNO=splicing:DYNC2H1
11	103191758	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DYNC2H1:NM_001377:exon81:c.G11726A:p.G3909D,DYNC2H1:NM_001080463:exon82:c.G11747A:p.G3916D,;ANNO=splicing:DYNC2H1
11	104819259	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CASP4(NM_033306:c.757+1G>A,NM_001225:c.925+1G>A)
11	104825728	.	T	C	100	PASS	AC=61;STUDIES=5;MAC=61;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CASP4:NM_001225:exon2:c.A8G:p.E3G,;ANNO=splicing:CASP4
11	104825729	.	C	T	100	PASS	AC=36;STUDIES=3;MAC=36;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CASP4(NM_001225:c.7-1G>A)
11	104825730	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CASP4(NM_001225:c.7-2A>G)
11	104868218	.	A	G	100	PASS	AC=87;STUDIES=8;MAC=87;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CASP5:NM_001136112:exon8:c.T1137C:p.H379H,CASP5:NM_004347:exon8:c.T1098C:p.H366H,CASP5:NM_001136109:exon7:c.T924C:p.H308H,CASP5:NM_001136110:exon6:c.T672C:p.H224H,;ANNO=splicing:CASP5
11	104869611	.	C	T	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CASP5(NM_001136110:c.670+1G>A,NM_001136109:c.922+1G>A,NM_001136112:c.1135+1G>A,NM_004347:c.1096+1G>A)
11	104872930	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CASP5(NM_001136110:c.117-2A>G,NM_001136109:c.369-2A>G,NM_001136112:c.582-2A>G,NM_004347:c.543-2A>G)
11	104874111	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CASP5(NM_001136110:c.7-1G>C,NM_001136109:c.259-1G>C,NM_001136112:c.472-1G>C,NM_004347:c.433-1G>C)
11	104900393	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CASP1:NM_033292:exon6:c.T861C:p.G287G,CASP1:NM_033294:exon5:c.T582C:p.G194G,CASP1:NM_033293:exon5:c.T582C:p.G194G,CASP1:NM_001223:exon5:c.T798C:p.G266G,;ANNO=splicing:CASP1
11	104901058	.	G	A	100	PASS	AC=83;STUDIES=7;MAC=83;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CASP1:NM_033292:exon5:c.C626T:p.S209L,CASP1:NM_033294:exon4:c.C347T:p.S116L,CASP1:NM_033293:exon4:c.C347T:p.S116L,CASP1:NM_001223:exon4:c.C563T:p.S188L,;ANNO=splicing:CASP1
11	104916018	.	C	T	100	PASS	AC=17;STUDIES=4;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:CARD16:NM_052889:exon1:c.G7A:p.D3N,CARD16:NM_001017534:exon1:c.G7A:p.D3N,;ANNO=splicing:CARD16
11	104971507	.	C	G	100	PASS	AC=307;STUDIES=9;MAC=307;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:CARD17(NM_001007232:c.7-1G>C)
11	104972135	.	C	T	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:CASP1:NM_033295:exon1:c.G7A:p.D3N,CASP1:NM_033292:exon1:c.G7A:p.D3N,CASP1:NM_033294:exon1:c.G7A:p.D3N,CARD17:NM_001007232:exon1:c.G7A:p.D3N,CASP1:NM_033293:exon1:c.G7A:p.D3N,CASP1:NM_001223:exon1:c.G7A:p.D3N,;ANNO=splicing:CARD17,CASP1
11	104972136	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=synonymous:CASP1:NM_033295:exon1:c.C6T:p.A2A,CASP1:NM_033292:exon1:c.C6T:p.A2A,CASP1:NM_033294:exon1:c.C6T:p.A2A,CARD17:NM_001007232:exon1:c.C6T:p.A2A,CASP1:NM_033293:exon1:c.C6T:p.A2A,CASP1:NM_001223:exon1:c.C6T:p.A2A,;ANNO=synonymous:CASP1:NM_033295:exon1:c.C6A:p.A2A,CASP1:NM_033292:exon1:c.C6A:p.A2A,CASP1:NM_033294:exon1:c.C6A:p.A2A,CARD17:NM_001007232:exon1:c.C6A:p.A2A,CASP1:NM_033293:exon1:c.C6A:p.A2A,CASP1:NM_001223:exon1:c.C6A:p.A2A,;ANNO=splicing:CARD17,CASP1;ANNO=splicing:CARD17,CASP1
11	104972136	.	G	T	100	PASS	AC=59;STUDIES=7;MAC=59;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:CASP1:NM_033295:exon1:c.C6T:p.A2A,CASP1:NM_033292:exon1:c.C6T:p.A2A,CASP1:NM_033294:exon1:c.C6T:p.A2A,CARD17:NM_001007232:exon1:c.C6T:p.A2A,CASP1:NM_033293:exon1:c.C6T:p.A2A,CASP1:NM_001223:exon1:c.C6T:p.A2A,;ANNO=synonymous:CASP1:NM_033295:exon1:c.C6A:p.A2A,CASP1:NM_033292:exon1:c.C6A:p.A2A,CASP1:NM_033294:exon1:c.C6A:p.A2A,CARD17:NM_001007232:exon1:c.C6A:p.A2A,CASP1:NM_033293:exon1:c.C6A:p.A2A,CASP1:NM_001223:exon1:c.C6A:p.A2A,;ANNO=splicing:CARD17,CASP1;ANNO=splicing:CARD17,CASP1
11	105010448	.	A	G	100	PASS	AC=55;STUDIES=6;MAC=55;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:CARD18:NM_021571:exon1:c.T6G:p.A2A,;ANNO=synonymous:CARD18:NM_021571:exon1:c.T6C:p.A2A,;ANNO=splicing:CARD18;ANNO=splicing:CARD18
11	105880839	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA1826(NM_032424:c.462-2A>G)
11	107312229	.	C	G	100	PASS	AC=113;STUDIES=8;MAC=113;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CWF19L2:NM_152434:exon5:c.G570C:p.Q190H,;ANNO=splicing:CWF19L2
11	107422535	.	T	G	100	PASS	AC=196;STUDIES=11;MAC=196;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ALKBH8:NM_138775:exon6:c.A699C:p.Q233H,;ANNO=splicing:ALKBH8
11	108186638	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATM:NM_000051:exon41:c.G6095A:p.R2032K,;ANNO=splicing:ATM
11	108196951	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATM:NM_000051:exon47:c.C6974T:p.A2325V,;ANNO=splicing:ATM
11	108202171	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATM:NM_000051:exon51:c.A7516G:p.R2506G,;ANNO=splicing:ATM
11	108594188	.	A	G	100	PASS	AC=19;STUDIES=4;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DDX10:NM_004398:exon13:c.A1964G:p.Q655R,;ANNO=splicing:DDX10
11	111249887	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:POU2AF1:NM_006235:exon1:c.C16T:p.P6S,;ANNO=splicing:POU2AF1
11	111404530	.	G	A	100	PASS	AC=123;STUDIES=8;MAC=123;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C11orf88:NM_001100388:exon4:c.G399A:p.S133S,C11orf88:NM_207430:exon5:c.G480A:p.S160S,;ANNO=splicing:C11orf88
11	111636107	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PPP2R1B:NM_181699:exon2:c.T116G:p.L39R,PPP2R1B:NM_002716:exon2:c.T116G:p.L39R,PPP2R1B:NM_001177563:exon2:c.T116G:p.L39R,PPP2R1B:NM_001177562:exon2:c.T116G:p.L39R,;ANNO=splicing:PPP2R1B
11	111680496	.	A	C	100	PASS	AC=43;STUDIES=5;MAC=43;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:ALG9:NM_024740:exon14:c.T1605G:p.Y535X,ALG9:NM_001077690:exon14:c.T1584G:p.Y528X,;ANNO=splicing:ALG9
11	111753322	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C11orf1:NM_022761:exon2:c.G276A:p.Q92Q,;ANNO=splicing:C11orf1
11	111779693	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CRYAB(NM_001885:c.324-2A>G)
11	111865833	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DIXDC1(NM_001037954:c.1526+1G>A,NM_033425:c.893+1G>A)
11	111958581	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:SDHD:NM_003002:exon2:c.C53T:p.A18V,;ANNO=splicing:SDHD
11	112071336	.	G	A	100	PASS	AC=183;STUDIES=8;MAC=183;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BCO2:NM_001037290:exon7:c.G764A:p.G255E,BCO2:NM_031938:exon7:c.G866A:p.G289E,;ANNO=splicing:BCO2
11	112084583	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BCO2:NM_001037290:exon9:c.C1229T:p.T410M,BCO2:NM_031938:exon9:c.C1331T:p.T444M,;ANNO=splicing:BCO2
11	112086943	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BCO2:NM_001037290:exon11:c.G1414A:p.V472I,BCO2:NM_031938:exon11:c.G1516A:p.V506I,;ANNO=splicing:BCO2
11	113111509	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NCAM1:NM_001076682:exon15:c.T1813A:p.F605I,;ANNO=splicing:NCAM1
11	113126722	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NCAM1:NM_001076682:exon17:c.A2028T:p.R676S,NCAM1:NM_000615:exon14:c.A1923T:p.R641S,NCAM1:NM_181351:exon15:c.A1953T:p.R651S,;ANNO=splicing:NCAM1
11	113195325	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTC12(NM_017868:c.244-2A>G)
11	113211455	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TTC12:NM_017868:exon11:c.G896C:p.R299T,;ANNO=splicing:TTC12
11	113212646	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TTC12:NM_017868:exon12:c.C984T:p.N328N,;ANNO=splicing:TTC12
11	113222931	.	T	C	100	PASS	AC=22;STUDIES=4;MAC=22;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTC12(NM_017868:c.1446+2T>C)
11	113266080	.	G	T	100	PASS	AC=72;STUDIES=6;MAC=72;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANKK1(NM_178510:c.632-1G>T)
11	113267947	.	C	A	100	PASS	AC=73;STUDIES=15;MAC=73;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ANKK1:NM_178510:exon6:c.C840A:p.D280E,;ANNO=splicing:ANKK1
11	113679159	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:USP28:NM_020886:exon18:c.A2165G:p.E722G,;ANNO=splicing:USP28
11	113803815	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HTR3B:NM_006028:exon6:c.T696G:p.N232K,;ANNO=splicing:HTR3B
11	113850001	.	T	G	100	PASS	AC=84;STUDIES=3;MAC=84;MAF=0.078;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:HTR3A(NM_000869:c.282+2T>G,NM_213621:c.282+2T>G,NM_001161772:c.219+2T>G)
11	114117921	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZBTB16:NM_006006:exon6:c.C1626T:p.G542G,ZBTB16:NM_001018011:exon6:c.C1626T:p.G542G,;ANNO=splicing:ZBTB16
11	114393601	.	T	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM55A:NM_152315:exon5:c.A682T:p.T228S,;ANNO=splicing:FAM55A
11	114398562	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM55A:NM_152315:exon4:c.A469G:p.K157E,;ANNO=splicing:FAM55A
11	114453742	.	A	G	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:FAM55D:NM_001077639:exon3:c.T98C:p.V33A,;ANNO=splicing:FAM55D
11	115085329	.	G	A	100	PASS	AC=81;STUDIES=9;MAC=81;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CADM1:NM_014333:exon7:c.C993T:p.Y331Y,CADM1:NM_001098517:exon7:c.C993T:p.Y331Y,;ANNO=splicing:CADM1
11	116693860	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:APOA4:NM_000482:exon1:c.C48T:p.A16A,;ANNO=splicing:APOA4
11	116701353	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:APOC3:NM_000040:exon2:c.C55T:p.R19X,;ANNO=splicing:APOC3
11	116701354	.	G	A	100	PASS	AC=28;STUDIES=9;MAC=28;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:APOC3(NM_000040:c.55+1G>A)
11	116701613	.	G	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:APOC3(NM_000040:c.179+1G>T)
11	116714118	.	T	G	100	PASS	AC=140;STUDIES=2;MAC=140;MAF=0.071;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:SIK3
11	117054496	.	G	A	100	PASS	AC=49;STUDIES=16;MAC=49;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SIDT2:NM_001040455:exon7:c.G704A:p.R235H,;ANNO=splicing:SIDT2
11	117079612	.	C	T	100	PASS	AC=23;STUDIES=7;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:PCSK7(NM_004716:c.1691+1G>A)
11	117162427	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BACE1(NM_138972:c.867+1G>A,NM_138973:c.735+1G>A,NM_012104:c.942+1G>A,NM_001207049:c.567+1G>A,NM_001207048:c.642+1G>A,NM_138971:c.810+1G>A)
11	117232552	.	C	G	100	PASS	AC=72;STUDIES=9;MAC=72;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CEP164:NM_014956:exon6:c.C395G:p.A132G,;ANNO=splicing:CEP164
11	117246506	.	A	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CEP164:NM_014956:exon11:c.A1316T:p.Q439L,;ANNO=splicing:CEP164
11	117252415	.	A	G	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEP164(NM_014956:c.1409-2A>G)
11	117257920	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:CEP164:NM_014956:exon15:c.C1726T:p.R576X,;ANNO=splicing:CEP164
11	117329471	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DSCAML1:NM_020693:exon19:c.C3747T:p.D1249D,;ANNO=splicing:DSCAML1
11	117342585	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DSCAML1:NM_020693:exon15:c.C3132T:p.A1044A,;ANNO=splicing:DSCAML1
11	117691381	.	C	A	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=splicing:FXYD2,FXYD6-FXYD2
11	117691574	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FXYD2:NM_021603:exon4:c.G170A:p.R57K,FXYD2:NM_001680:exon4:c.G176A:p.R59K,FXYD6-FXYD2:NM_001204268:exon9:c.G410A:p.R137K,;ANNO=splicing:FXYD2,FXYD6-FXYD2
11	117711864	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FXYD6:NM_001164837:exon6:c.C208T:p.R70W,FXYD6:NM_001164836:exon7:c.C208T:p.R70W,FXYD6:NM_001164832:exon6:c.C208T:p.R70W,FXYD6:NM_001164831:exon5:c.C208T:p.R70W,FXYD6:NM_022003:exon5:c.C208T:p.R70W,FXYD6-FXYD2:NM_001204268:exon5:c.C208T:p.R70C,;ANNO=splicing:FXYD6,FXYD6-FXYD2
11	117785108	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TMPRSS13:NM_001206789:exon3:c.C573T:p.C191C,TMPRSS13:NM_001206790:exon4:c.C678T:p.C226C,TMPRSS13:NM_001077263:exon4:c.C678T:p.C226C,;ANNO=splicing:TMPRSS13
11	117965530	.	A	G	100	PASS	AC=6319;STUDIES=17;MAC=6319;MAF=0.326;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=1;ANNO=splicing:TMPRSS4(NM_019894:c.3-1A>G,NM_001083947:c.3-1A>G)
11	117985851	.	A	G	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMPRSS4(NM_001173551:c.1003-2A>G,NM_019894:c.1009-2A>G,NM_001173552:c.889-2A>G,NM_001083947:c.994-2A>G)
11	118067537	.	C	G	100	PASS	AC=19;STUDIES=6;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AMICA1(NM_001098526:c.1005-1G>C,NM_153206:c.975-1G>C)
11	118100634	.	T	A	100	PASS	AC=587;STUDIES=12;MAC=587;MAF=0.039;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MPZL3:NM_198275:exon6:c.A683T:p.D228V,;ANNO=splicing:MPZL3
11	118182885	.	C	T	100	PASS	AC=54;STUDIES=15;MAC=54;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CD3E:NM_000733:exon5:c.C103T:p.P35S,;ANNO=splicing:CD3E
11	118219742	.	G	A	100	PASS	AC=16;STUDIES=11;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CD3G:NM_000073:exon2:c.G56A:p.G19D,;ANNO=splicing:CD3G
11	118243401	.	C	G	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UBE4A:NM_004788:exon6:c.C741G:p.I247M,;ANNO=splicing:UBE4A
11	118370551	.	G	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MLL:NM_005933:exon24:c.G6072T:p.G2024G,MLL:NM_001197104:exon24:c.G6081T:p.G2027G,;ANNO=splicing:MLL
11	118422566	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IFT46:NM_001168618:exon9:c.C607T:p.P203S,IFT46:NM_020153:exon10:c.C760T:p.P254S,;ANNO=splicing:IFT46
11	118516453	.	C	T	100	PASS	AC=60;STUDIES=8;MAC=60;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PHLDB1:NM_001144758:exon17:c.C3417T:p.S1139S,PHLDB1:NM_001144759:exon16:c.C3276T:p.S1092S,PHLDB1:NM_015157:exon18:c.C3417T:p.S1139S,;ANNO=splicing:PHLDB1
11	118533904	.	T	C	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TREH:NM_007180:exon3:c.A192G:p.E64E,;ANNO=splicing:TREH
11	118827137	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UPK2(NM_006760:c.76+1G>T)
11	118827917	.	G	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UPK2(NM_006760:c.208-1G>A)
11	118828806	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UPK2(NM_006760:c.418-1G>T)
11	118869141	.	T	G	100	PASS	AC=39;STUDIES=2;MAC=39;MAF=0.058;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:CCDC84:NM_198489:exon2:c.T122G:p.V41G,;ANNO=splicing:CCDC84
11	118896789	.	G	A	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC37A4:NM_001164278:exon8:c.C873T:p.G291G,SLC37A4:NM_001467:exon7:c.C873T:p.G291G,SLC37A4:NM_001164279:exon8:c.C654T:p.G218G,SLC37A4:NM_001164280:exon6:c.C873T:p.G291G,SLC37A4:NM_001164277:exon8:c.C873T:p.G291G,;ANNO=splicing:SLC37A4
11	118899135	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC37A4:NM_001164278:exon4:c.G150T:p.G50G,SLC37A4:NM_001467:exon3:c.G150T:p.G50G,SLC37A4:NM_001164280:exon2:c.G150T:p.G50G,SLC37A4:NM_001164277:exon4:c.G150T:p.G50G,;ANNO=splicing:SLC37A4
11	118918530	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HYOU1:NM_006389:exon22:c.G2511T:p.K837N,HYOU1:NM_001130991:exon22:c.G2511T:p.K837N,;ANNO=splicing:HYOU1
11	118926783	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HYOU1:NM_006389:exon2:c.T90C:p.S30S,HYOU1:NM_001130991:exon2:c.T90C:p.S30S,;ANNO=splicing:HYOU1
11	118983193	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C2CD2L:NM_014807:exon9:c.C1086T:p.T362T,;ANNO=splicing:C2CD2L
11	118984422	.	C	T	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C2CD2L:NM_014807:exon11:c.C1489T:p.P497S,;ANNO=splicing:C2CD2L
11	119027724	.	G	A	100	PASS	AC=14;STUDIES=6;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABCG4:NM_001142505:exon9:c.G1068A:p.P356P,ABCG4:NM_022169:exon9:c.G1068A:p.P356P,;ANNO=splicing:ABCG4
11	119029041	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCG4:NM_001142505:exon10:c.C1166T:p.T389M,ABCG4:NM_022169:exon10:c.C1166T:p.T389M,;ANNO=splicing:ABCG4
11	119060963	.	T	C	100	PASS	AC=2433;STUDIES=9;MAC=2433;MAF=0.316;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:CCDC153
11	119061418	.	C	G	100	PASS	AC=21;STUDIES=4;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC153(NM_001145018:c.480+1G>C)
11	119061419	.	G	C	100	PASS	AC=14;STUDIES=6;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:CCDC153:NM_001145018:exon6:c.C480T:p.H160H,;ANNO=nonsynonymous:CCDC153:NM_001145018:exon6:c.C480G:p.H160Q,;ANNO=splicing:CCDC153;ANNO=splicing:CCDC153
11	119158562	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CBL:NM_005188:exon12:c.A1942C:p.S648R,;ANNO=splicing:CBL
11	119180624	.	C	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:MCAM:NM_006500:exon16:c.G1913C:p.G638A,;ANNO=nonsynonymous:MCAM:NM_006500:exon16:c.G1913A:p.G638E,;ANNO=splicing:MCAM;ANNO=splicing:MCAM
11	119182762	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MCAM:NM_006500:exon9:c.G1143A:p.E381E,;ANNO=splicing:MCAM
11	119214525	.	C	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C1QTNF5,MFRP(NM_031433:c.1124+1G>T)
11	119215343	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MFRP:NM_031433:exon7:c.G897A:p.S299S,;ANNO=splicing:C1QTNF5,MFRP
11	119216343	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MFRP:NM_031433:exon5:c.C428G:p.T143S,;ANNO=splicing:C1QTNF5,MFRP
11	119509441	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PVRL1:NM_203285:exon7:c.G1227A:p.Q409Q,;ANNO=splicing:PVRL1
11	120175740	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:POU2F3:NM_014352:exon7:c.C446T:p.A149V,;ANNO=splicing:POU2F3
11	120531108	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GRIK4:NM_014619:exon1:c.C81T:p.I27I,;ANNO=splicing:GRIK4
11	121058703	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TECTA:NM_005422:exon20:c.C6162T:p.I2054I,;ANNO=splicing:TECTA
11	121177766	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SC5DL:NM_006918:exon5:c.C445T:p.R149C,SC5DL:NM_001024956:exon5:c.C445T:p.R149C,;ANNO=splicing:SC5DL
11	121420669	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SORL1:NM_003105:exon15:c.T2052C:p.C684C,;ANNO=splicing:SORL1
11	121448108	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SORL1:NM_003105:exon25:c.C3579T:p.T1193T,;ANNO=splicing:SORL1
11	121460098	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SORL1:NM_003105:exon29:c.C4077T:p.C1359C,;ANNO=splicing:SORL1
11	121492871	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SORL1:NM_003105:exon45:c.T6065C:p.V2022A,;ANNO=splicing:SORL1
11	122650402	.	C	T	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UBASH3B:NM_032873:exon4:c.C600T:p.T200T,;ANNO=splicing:UBASH3B
11	122720776	.	A	C	100	PASS	AC=103;STUDIES=7;MAC=103;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CRTAM:NM_019604:exon2:c.A47C:p.E16A,;ANNO=splicing:CRTAM
11	122817501	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C11orf63(NM_024806:c.1929+1G>A)
11	122827205	.	A	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C11orf63:NM_024806:exon7:c.A1931T:p.N644I,;ANNO=splicing:C11orf63
11	122930735	.	A	C	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HSPA8:NM_153201:exon5:c.T566G:p.V189G,HSPA8:NM_006597:exon5:c.T566G:p.V189G,;ANNO=splicing:HSPA8
11	123677056	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OR6M1:NM_001005325:exon1:c.T2C:p.M1T,;ANNO=splicing:OR6M1
11	123994161	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VWA5A:NM_014622:exon8:c.C1019T:p.P340L,VWA5A:NM_198315:exon8:c.C1019T:p.P340L,VWA5A:NM_001130142:exon9:c.C1019T:p.P340L,;ANNO=splicing:VWA5A
11	124013149	.	G	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VWA5A:NM_014622:exon16:c.G2024T:p.G675V,VWA5A:NM_001130142:exon17:c.G2024T:p.G675V,;ANNO=splicing:VWA5A
11	124135688	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=synonymous:OR8G5:NM_001005198:exon1:c.C966G:p.P322P,;ANNO=splicing:OR8G1(NM_001002905:c.861-1C>G)
11	124483017	.	A	G	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PANX3:NM_052959:exon2:c.A323G:p.K108R,;ANNO=splicing:PANX3
11	124500641	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TBRG1:NM_032811:exon7:c.G837C:p.M279I,;ANNO=splicing:TBRG1
11	124618541	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:VSIG2:NM_014312:exon5:c.C705G:p.T235T,;ANNO=splicing:VSIG2
11	124624235	.	C	T	100	PASS	AC=80;STUDIES=6;MAC=80;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ESAM:NM_138961:exon6:c.G732A:p.G244G,;ANNO=splicing:ESAM
11	124626438	.	C	G	100	PASS	AC=27;STUDIES=6;MAC=27;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ESAM:NM_138961:exon3:c.G450C:p.L150L,;ANNO=splicing:ESAM
11	124743286	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ROBO3:NM_022370:exon10:c.G1617A:p.R539R,;ANNO=splicing:ROBO3
11	124745460	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:ROBO3:NM_022370:exon15:c.C2300A:p.A767D,;ANNO=nonsynonymous:ROBO3:NM_022370:exon15:c.C2300T:p.A767V,;ANNO=splicing:ROBO3;ANNO=splicing:ROBO3
11	124761561	.	C	T	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ROBO4(NM_019055:c.1684+1G>A)
11	124764265	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ROBO4:NM_019055:exon8:c.G1150A:p.V384I,;ANNO=splicing:ROBO4
11	124824804	.	A	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC15:NM_025004:exon2:c.A176T:p.Y59F,;ANNO=splicing:CCDC15
11	124875006	.	G	A	100	PASS	AC=70;STUDIES=11;MAC=70;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC15:NM_025004:exon13:c.G2309A:p.R770H,;ANNO=splicing:CCDC15
11	124933322	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:SLC37A2:NM_001145290:exon1:c.G59A:p.W20X,SLC37A2:NM_198277:exon1:c.G59A:p.W20X,;ANNO=splicing:SLC37A2
11	125548192	.	C	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACRV1:NM_001612:exon2:c.G53A:p.G18E,ACRV1:NM_020107:exon2:c.G53A:p.G18E,ACRV1:NM_020069:exon2:c.G53A:p.G18E,ACRV1:NM_020108:exon2:c.G53A:p.G18E,;ANNO=splicing:ACRV1
11	125618495	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PATE1:NM_138294:exon5:c.G248C:p.R83T,;ANNO=splicing:PATE1
11	125647897	.	G	A	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PATE2:NM_212555:exon3:c.C77T:p.A26V,;ANNO=splicing:PATE2
11	125707761	.	A	C	100	PASS	AC=3451;STUDIES=5;MAC=2717;MAF=0.440;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PATE4(NM_001144874:c.58-2A>C)
11	125778184	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DDX25(NM_013264:c.404+1G>T)
11	125791087	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DDX25:NM_013264:exon11:c.G1203T:p.G401G,;ANNO=splicing:DDX25
11	125880588	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CDON:NM_016952:exon8:c.C1200T:p.D400D,;ANNO=splicing:CDON
11	126075677	.	C	T	100	PASS	AC=32;STUDIES=13;MAC=32;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RPUSD4(NM_032795:c.557-1G>A,NM_001144827:c.557-1G>A)
11	126135334	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SRPR:NM_001177842:exon9:c.G1056A:p.T352T,SRPR:NM_003139:exon10:c.G1140A:p.T380T,;ANNO=splicing:SRPR
11	126141551	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FOXRED1:NM_017547:exon2:c.C305T:p.T102M,;ANNO=splicing:FOXRED1
11	126146290	.	T	G	100	PASS	AC=120;STUDIES=2;MAC=120;MAF=0.167;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:FOXRED1:NM_017547:exon9:c.T973G:p.Y325D,;ANNO=splicing:FOXRED1
11	126162372	.	A	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:TIRAP:NM_001039661:exon5:c.A68T:p.D23V,TIRAP:NM_148910:exon5:c.A68T:p.D23V,;ANNO=splicing:TIRAP
11	126278203	.	T	C	100	PASS	AC=1945;STUDIES=22;MAC=1945;MAF=0.080;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ST3GAL4:NM_006278:exon8:c.T427C:p.L143L,;ANNO=splicing:ST3GAL4
11	126283542	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ST3GAL4:NM_006278:exon10:c.C902T:p.A301V,;ANNO=splicing:ST3GAL4
11	126333052	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIRREL3:NM_032531:exon6:c.C742T:p.H248Y,KIRREL3:NM_001161707:exon6:c.C742T:p.H248Y,;ANNO=splicing:KIRREL3
11	128354965	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ETS1:NM_005238:exon5:c.C483T:p.S161S,ETS1:NM_001143820:exon7:c.C615T:p.S205S,;ANNO=splicing:ETS1
11	128846528	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ARHGAP32:NM_014715:exon10:c.T1035C:p.G345G,ARHGAP32:NM_001142685:exon19:c.T2082C:p.G694G,;ANNO=splicing:ARHGAP32
11	128856563	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGAP32:NM_014715:exon4:c.C210T:p.R70R,ARHGAP32:NM_001142685:exon13:c.C1257T:p.R419R,;ANNO=splicing:ARHGAP32
11	129725604	.	T	G	100	PASS	AC=104;STUDIES=3;MAC=104;MAF=0.127;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TMEM45B:NM_138788:exon4:c.T387G:p.G129G,;ANNO=splicing:TMEM45B
11	129756338	.	G	A	100	PASS	AC=18;STUDIES=4;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NFRKB:NM_001143835:exon5:c.C339T:p.D113D,NFRKB:NM_006165:exon3:c.C378T:p.D126D,;ANNO=splicing:NFRKB
11	129775534	.	G	A	100	PASS	AC=21;STUDIES=6;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRDM10:NM_020228:exon21:c.C3278T:p.S1093L,PRDM10:NM_199439:exon15:c.C2867T:p.S956L,PRDM10:NM_199438:exon17:c.C2981T:p.S994L,PRDM10:NM_199437:exon20:c.C3266T:p.S1089L,;ANNO=splicing:PRDM10
11	129784600	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PRDM10:NM_020228:exon18:c.C2852T:p.S951L,PRDM10:NM_199439:exon13:c.C2582T:p.S861L,PRDM10:NM_199438:exon14:c.C2594T:p.S865L,PRDM10:NM_199437:exon17:c.C2840T:p.S947L,;ANNO=splicing:PRDM10
11	129980555	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:APLP2:NM_001642:exon3:c.C402T:p.L134L,APLP2:NM_001142277:exon3:c.C402T:p.L134L,APLP2:NM_001142276:exon3:c.C402T:p.L134L,APLP2:NM_001142278:exon3:c.C402T:p.L134L,;ANNO=splicing:APLP2
11	130068963	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ST14:NM_021978:exon15:c.C1806T:p.C602C,;ANNO=splicing:ST14
11	130773279	.	C	G	100	PASS	AC=213;STUDIES=18;MAC=213;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:SNX19:NM_014758:exon8:c.G2444C:p.G815A,;ANNO=splicing:SNX19
11	130776027	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SNX19:NM_014758:exon7:c.A2264C:p.E755A,;ANNO=splicing:SNX19
11	130780032	.	G	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SNX19:NM_014758:exon4:c.C1915A:p.Q639K,;ANNO=splicing:SNX19
11	133800880	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:IGSF9B:NM_014987:exon11:c.C1518T:p.I506I,;ANNO=splicing:IGSF9B
11	133805657	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IGSF9B:NM_014987:exon7:c.C822T:p.N274N,;ANNO=splicing:IGSF9B
11	133816152	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IGSF9B:NM_014987:exon2:c.C66T:p.G22G,;ANNO=splicing:IGSF9B
11	134014687	.	T	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:JAM3:NM_001205329:exon4:c.T257G:p.V86G,JAM3:NM_032801:exon5:c.T410G:p.V137G,;ANNO=splicing:JAM3
11	134015841	.	G	A	100	PASS	AC=21;STUDIES=5;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:JAM3:NM_001205329:exon5:c.G460A:p.V154M,JAM3:NM_032801:exon6:c.G613A:p.V205M,;ANNO=splicing:JAM3
11	134018714	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:JAM3(NM_001205329:c.744+1G>T,NM_032801:c.897+1G>T)
11	134038949	.	G	T	100	PASS	AC=351;STUDIES=10;MAC=351;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NCAPD3:NM_015261:exon25:c.C3102A:p.S1034R,;ANNO=splicing:NCAPD3
11	134073037	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NCAPD3:NM_015261:exon12:c.G1525A:p.A509T,;ANNO=splicing:NCAPD3
11	134080347	.	G	A	100	PASS	AC=8;STUDIES=7;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NCAPD3:NM_015261:exon4:c.C384T:p.G128G,;ANNO=splicing:NCAPD3
11	134183290	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GLB1L3:NM_001080407:exon16:c.G1501A:p.D501N,;ANNO=splicing:GLB1L3
11	134212648	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GLB1L2:NM_138342:exon2:c.G87T:p.R29S,;ANNO=splicing:GLB1L2
11	134238536	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GLB1L2(NM_138342:c.889-2A>G)
11	134241725	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GLB1L2(NM_138342:c.1507+1G>C)
12	302442	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC6A12(NM_003044:c.1530+1G>T,NM_001122847:c.1530+1G>T,NM_001206931:c.1530+1G>T,NM_001122848:c.1530+1G>T)
12	332299	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC6A13:NM_001190997:exon10:c.C1137T:p.Y379Y,SLC6A13:NM_016615:exon12:c.C1413T:p.Y471Y,;ANNO=splicing:SLC6A13
12	660088	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:B4GALNT3:NM_173593:exon11:c.T998C:p.V333A,;ANNO=splicing:B4GALNT3
12	1225032	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ERC1:NM_178039:exon6:c.A1318G:p.I440V,ERC1:NM_178040:exon7:c.A1402G:p.I468V,;ANNO=splicing:ERC1
12	1299025	.	G	A	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:ERC1:NM_178039:exon11:c.G2074A:p.A692T,ERC1:NM_178040:exon12:c.G2158A:p.A720T,;ANNO=splicing:ERC1
12	1909551	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CACNA2D4(NM_172364:c.2921+1G>A)
12	1988970	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CACNA2D4:NM_172364:exon14:c.G1563A:p.T521T,;ANNO=splicing:CACNA2D4
12	2061582	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DCP1B:NM_152640:exon7:c.G1524A:p.Q508Q,;ANNO=splicing:DCP1B
12	2930958	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ITFG2:NM_018463:exon9:c.C948T:p.T316T,;ANNO=splicing:ITFG2
12	3046797	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:TULP3:NM_001160408:exon9:c.G925C:p.E309Q,TULP3:NM_003324:exon9:c.G925C:p.E309Q,;ANNO=splicing:TULP3
12	3046896	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TULP3(NM_003324:c.1023+1G>A,NM_001160408:c.1023+1G>A)
12	3047450	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TULP3:NM_001160408:exon10:c.C1194T:p.D398D,TULP3:NM_003324:exon10:c.C1194T:p.D398D,;ANNO=splicing:TULP3
12	3047451	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TULP3:NM_001160408:exon10:c.C1195T:p.P399S,TULP3:NM_003324:exon10:c.C1195T:p.P399S,;ANNO=splicing:TULP3
12	3048591	.	G	C	100	PASS	AC=11;STUDIES=8;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TULP3:NM_003324:exon11:c.G1310C:p.S437T,;ANNO=splicing:TULP3(NM_001160408:c.1309+1G>C)
12	3126691	.	G	A	100	PASS	AC=30;STUDIES=10;MAC=30;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TEAD4:NM_003213:exon6:c.G482A:p.G161E,TEAD4:NM_201443:exon4:c.G95A:p.G32E,;ANNO=splicing:TEAD4
12	3387778	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TSPAN9:NM_001168320:exon3:c.C255T:p.S85S,TSPAN9:NM_006675:exon4:c.C255T:p.S85S,;ANNO=splicing:TSPAN9
12	4388084	.	C	G	100	PASS	AC=8171;STUDIES=22;MAC=8171;MAF=0.344;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCND2:NM_001759:exon3:c.C570G:p.T190T,;ANNO=splicing:CCND2
12	4553300	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FGF6:NM_020996:exon2:c.C449T:p.T150M,;ANNO=splicing:FGF6
12	4614545	.	A	G	100	PASS	AC=419;STUDIES=12;MAC=419;MAF=0.033;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C12orf4:NM_020374:exon10:c.T1164C:p.D388D,;ANNO=splicing:C12orf4
12	4651098	.	T	C	100	PASS	AC=95;STUDIES=6;MAC=95;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RAD51AP1:NM_006479:exon2:c.T66C:p.D22D,RAD51AP1:NM_001130862:exon2:c.T66C:p.D22D,;ANNO=splicing:RAD51AP1
12	4665519	.	T	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RAD51AP1:NM_006479:exon8:c.T722C:p.V241A,RAD51AP1:NM_001130862:exon9:c.T773C:p.V258A,;ANNO=splicing:RAD51AP1
12	4708874	.	A	G	100	PASS	AC=44;STUDIES=5;MAC=44;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DYRK4:NM_003845:exon8:c.A701G:p.E234G,;ANNO=splicing:DYRK4
12	4854791	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:GALNT8:NM_017417:exon5:c.A1057T:p.K353X,;ANNO=splicing:GALNT8
12	4874711	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:GALNT8:NM_017417:exon10:c.C1760G:p.P587R,;ANNO=nonsynonymous:GALNT8:NM_017417:exon10:c.C1760T:p.P587L,;ANNO=splicing:GALNT8;ANNO=splicing:GALNT8
12	4874712	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GALNT8:NM_017417:exon10:c.G1761A:p.P587P,;ANNO=splicing:GALNT8
12	4881610	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GALNT8(NM_017417:c.1761-1G>T)
12	5842031	.	C	G	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANO2(NM_020373:c.1434+1G>C)
12	5941617	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANO2(NM_020373:c.773+1G>A)
12	6061684	.	C	G	100	PASS	AC=30;STUDIES=11;MAC=30;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VWF:NM_000552:exon49:c.G7988C:p.R2663P,;ANNO=splicing:VWF
12	6092317	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VWF:NM_000552:exon41:c.C7080T:p.C2360C,;ANNO=splicing:VWF
12	6105387	.	G	A	100	PASS	AC=9500;STUDIES=22;MAC=9500;MAF=0.391;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:VWF:NM_000552:exon35:c.C5844T:p.C1948C,;ANNO=splicing:VWF
12	6125397	.	C	A	100	PASS	AC=134;STUDIES=12;MAC=134;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:VWF:NM_000552:exon31:c.G5313T:p.G1771G,;ANNO=splicing:VWF
12	6132797	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:VWF:NM_000552:exon25:c.C3379T:p.P1127S,;ANNO=splicing:VWF
12	6140746	.	T	G	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VWF(NM_000552:c.2685-2A>C)
12	6167016	.	C	A	100	PASS	AC=33;STUDIES=6;MAC=33;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VWF:NM_000552:exon14:c.G1728T:p.M576I,;ANNO=splicing:VWF
12	6458386	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCNN1A:NM_001159576:exon9:c.G1618A:p.V540M,SCNN1A:NM_001159575:exon10:c.G1510A:p.V504M,SCNN1A:NM_001038:exon10:c.G1441A:p.V481M,;ANNO=splicing:SCNN1A
12	6458387	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SCNN1A:NM_001159576:exon9:c.C1617T:p.S539S,SCNN1A:NM_001159575:exon10:c.C1509T:p.S503S,SCNN1A:NM_001038:exon10:c.C1440T:p.S480S,;ANNO=splicing:SCNN1A
12	6458571	.	C	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCNN1A:NM_001159576:exon8:c.G1538T:p.G513V,SCNN1A:NM_001159575:exon9:c.G1430T:p.G477V,SCNN1A:NM_001038:exon9:c.G1361T:p.G454V,;ANNO=splicing:SCNN1A
12	6464944	.	G	A	100	PASS	AC=225;STUDIES=16;MAC=225;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SCNN1A:NM_001159576:exon4:c.C1155T:p.N385N,SCNN1A:NM_001159575:exon5:c.C1047T:p.N349N,SCNN1A:NM_001038:exon5:c.C978T:p.N326N,;ANNO=splicing:SCNN1A
12	6566573	.	G	A	100	PASS	AC=39;STUDIES=12;MAC=39;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TAPBPL:NM_018009:exon4:c.G567A:p.V189V,;ANNO=splicing:TAPBPL
12	6566909	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TAPBPL:NM_018009:exon4:c.A903G:p.Q301Q,;ANNO=splicing:TAPBPL
12	6631204	.	G	A	100	PASS	AC=8;STUDIES=7;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NCAPD2(NM_014865:c.1954+1G>A)
12	6637494	.	G	A	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:NCAPD2:NM_014865:exon25:c.G3299A:p.R1100H,;ANNO=splicing:NCAPD2
12	6637845	.	T	C	100	PASS	AC=18175;STUDIES=22;MAC=5897;MAF=0.245;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NCAPD2:NM_014865:exon26:c.T3300C:p.R1100R,;ANNO=splicing:NCAPD2
12	6638759	.	G	T	100	PASS	AC=107;STUDIES=5;MAC=107;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NCAPD2:NM_014865:exon28:c.G3653T:p.R1218L,;ANNO=splicing:NCAPD2
12	6639983	.	G	A	100	PASS	AC=20;STUDIES=8;MAC=20;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:NCAPD2:NM_014865:exon30:c.G3964A:p.G1322S,;ANNO=splicing:NCAPD2
12	6640085	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NCAPD2(NM_014865:c.3964-2A>G)
12	6657833	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IFFO1(NM_001039670:c.1238+1G>A,NM_001193457:c.1262+1G>A,NM_080730:c.1238+1G>A)
12	6709561	.	C	T	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CHD4:NM_001273:exon9:c.G1064A:p.G355D,;ANNO=splicing:CHD4
12	6761437	.	A	G	100	PASS	AC=25;STUDIES=8;MAC=25;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ING4:NM_001127585:exon5:c.T576C:p.D192D,ING4:NM_001127582:exon6:c.T648C:p.D216D,ING4:NM_001127584:exon6:c.T636C:p.D212D,ING4:NM_016162:exon6:c.T645C:p.D215D,ING4:NM_001127583:exon6:c.T639C:p.D213D,;ANNO=splicing:ING4
12	6909474	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CD4:NM_000616:exon3:c.G51A:p.A17A,;ANNO=splicing:CD4
12	6947122	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LEPREL2:NM_014262:exon13:c.C1829T:p.A610V,;ANNO=splicing:LEPREL2
12	6947123	.	G	A	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LEPREL2:NM_014262:exon13:c.G1830A:p.A610A,;ANNO=splicing:LEPREL2
12	6947196	.	C	T	100	PASS	AC=183;STUDIES=18;MAC=183;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LEPREL2:NM_014262:exon13:c.C1903T:p.R635W,;ANNO=splicing:LEPREL2
12	6947197	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:LEPREL2:NM_014262:exon13:c.G1904A:p.R635Q,;ANNO=splicing:LEPREL2
12	6968634	.	G	A	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:USP5:NM_003481:exon9:c.G1059A:p.K353K,USP5:NM_001098536:exon9:c.G1059A:p.K353K,;ANNO=splicing:USP5
12	6980482	.	C	T	100	PASS	AC=157;STUDIES=11;MAC=157;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SPSB2:NM_001146316:exon3:c.G666A:p.A222A,SPSB2:NM_032641:exon3:c.G666A:p.A222A,;ANNO=splicing:SPSB2
12	6982162	.	C	T	100	PASS	AC=164;STUDIES=2;MAC=164;MAF=0.083;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPSB2
12	7015117	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRRC23:NM_006992:exon3:c.A235G:p.R79G,LRRC23:NM_001135217:exon3:c.A235G:p.R79G,LRRC23:NM_201650:exon3:c.A235G:p.R79G,;ANNO=splicing:LRRC23
12	7031507	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ENO2:NM_001975:exon11:c.A1177G:p.I393V,;ANNO=splicing:ENO2
12	7242328	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C1R:NM_001733:exon4:c.C426T:p.D142D,;ANNO=splicing:C1R
12	7252497	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C1RL:NM_016546:exon4:c.G616A:p.G206R,;ANNO=splicing:C1RL
12	7361765	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PEX5:NM_001131024:exon13:c.A1448G:p.N483S,PEX5:NM_001131025:exon14:c.A1559G:p.N520S,PEX5:NM_001131026:exon15:c.A1559G:p.N520S,PEX5:NM_000319:exon13:c.A1535G:p.N512S,PEX5:NM_001131023:exon14:c.A1604G:p.N535S,;ANNO=splicing:PEX5
12	7362839	.	G	C	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PEX5(NM_001131026:c.1939+1G>C)
12	7507726	.	T	G	100	PASS	AC=503;STUDIES=2;MAC=503;MAF=0.255;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:CD163L1
12	7528192	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD163L1(NM_174941:c.2686-1G>A)
12	7528296	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:CD163L1:NM_174941:exon10:c.C2686T:p.R896X,;ANNO=splicing:CD163L1
12	7559129	.	T	C	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CD163L1:NM_174941:exon5:c.A1086G:p.S362S,;ANNO=splicing:CD163L1
12	7585971	.	A	G	100	PASS	AC=9991;STUDIES=21;MAC=9991;MAF=0.444;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:CD163L1:NM_174941:exon3:c.T444C:p.Y148Y,;ANNO=splicing:CD163L1
12	7586291	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD163L1(NM_174941:c.124-1G>A)
12	7899913	.	C	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC4C(NM_130441:c.31+1G>T,NM_203503:c.31+1G>T)
12	7967130	.	A	G	100	PASS	AC=144;STUDIES=6;MAC=144;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:SLC2A14:NM_153449:exon12:c.T1345C:p.Y449H,;ANNO=splicing:SLC2A14
12	7981462	.	T	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:SLC2A14:NM_153449:exon7:c.A583T:p.I195F,;ANNO=splicing:SLC2A14
12	7985318	.	C	A	100	PASS	AC=698;STUDIES=21;MAC=698;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC2A14:NM_153449:exon4:c.G180T:p.T60T,;ANNO=splicing:SLC2A14
12	8197553	.	C	T	100	PASS	AC=63;STUDIES=4;MAC=63;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FOXJ2:NM_018416:exon6:c.C816T:p.H272H,;ANNO=splicing:FOXJ2
12	8201294	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FOXJ2:NM_018416:exon8:c.C1227G:p.A409A,;ANNO=splicing:FOXJ2
12	8288179	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC4A(NM_194450:c.199-2A>T,NM_194448:c.82-2A>T,NM_194447:c.181-2A>T,NM_016184:c.298-2A>T)
12	8612294	.	G	C	100	PASS	AC=49;STUDIES=11;MAC=49;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CLEC6A:NM_001007033:exon3:c.G223C:p.A75P,;ANNO=splicing:CLEC6A
12	8628837	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC6A(NM_001007033:c.485+1G>T)
12	8672938	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC4D(NM_080387:c.500+1G>T)
12	8687407	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC4E(NM_014358:c.488-2A>G)
12	8975310	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:A2ML1(NM_144670:c.62+1G>A)
12	8998038	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:A2ML1:NM_144670:exon13:c.T1477C:p.L493L,;ANNO=splicing:A2ML1
12	9001509	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:A2ML1:NM_144670:exon16:c.G2027A:p.R676Q,;ANNO=splicing:A2ML1
12	9002754	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:A2ML1(NM_144670:c.2119-2A>C)
12	9004806	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:A2ML1:NM_144670:exon20:c.G2464A:p.V822I,;ANNO=splicing:A2ML1
12	9020954	.	G	A	100	PASS	AC=18;STUDIES=14;MAC=18;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:A2ML1(NM_144670:c.4061+1G>A)
12	9144906	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KLRG1:NM_005810:exon2:c.G187A:p.G63S,;ANNO=splicing:KLRG1
12	9334571	.	C	T	100	PASS	AC=2438;STUDIES=22;MAC=2438;MAF=0.101;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PZP:NM_002864:exon14:c.G1689A:p.K563K,;ANNO=splicing:PZP
12	9349165	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PZP(NM_002864:c.982+2T>C)
12	9360854	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PZP(NM_002864:c.83+1G>A)
12	9833628	.	C	T	100	PASS	AC=11850;STUDIES=22;MAC=11850;MAF=0.489;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CLEC2D:NM_001197318:exon2:c.C171T:p.S57S,CLEC2D:NM_013269:exon2:c.C171T:p.S57S,CLEC2D:NM_001004419:exon2:c.C171T:p.S57S,;ANNO=splicing:CLEC2D
12	10124287	.	G	A	100	PASS	AC=27;STUDIES=9;MAC=27;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC12A(NM_001207010:c.121+1G>A,NM_138337:c.91+1G>A,NM_201623:c.91+1G>A)
12	10163451	.	T	C	100	PASS	AC=21;STUDIES=3;MAC=21;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC12B(NM_205852:c.91+2T>C,NM_001129998:c.91+2T>C)
12	10206951	.	G	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC9A(NM_207345:c.172+1G>A)
12	10215654	.	C	G	100	PASS	AC=310;STUDIES=19;MAC=310;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CLEC9A:NM_207345:exon7:c.C320G:p.A107G,;ANNO=splicing:CLEC9A
12	10282578	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC7A(NM_197947:c.103+1G>T,NM_197950:c.103+1G>T,NM_197949:c.103+1G>T,NM_197948:c.103+1G>T,NM_022570:c.103+1G>T,NM_197954:c.103+1G>T)
12	10339187	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C12orf59:NM_153022:exon3:c.A246G:p.T82T,;ANNO=splicing:C12orf59
12	10568395	.	T	C	100	PASS	AC=24;STUDIES=8;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KLRC3(NM_002261:c.587-2A>G,NM_007333:c.587-2A>G)
12	10569265	.	C	A	100	PASS	AC=328;STUDIES=6;MAC=328;MAF=0.055;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:KLRC3(NM_002261:c.587+1G>T,NM_007333:c.587+1G>T)
12	10584706	.	T	C	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:KLRC2:NM_002260:exon5:c.A583G:p.K195E,;ANNO=splicing:KLRC2
12	10603082	.	C	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KLRC1(NM_213657:c.283+1G>C,NM_002259:c.283+1G>C,NM_007328:c.283+1G>C,NM_213658:c.283+1G>C)
12	10782093	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STYK1:NM_018423:exon6:c.G632A:p.R211Q,;ANNO=splicing:STYK1
12	10787165	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:STYK1(NM_018423:c.52+1G>T)
12	10853951	.	G	C	100	PASS	AC=128;STUDIES=8;MAC=128;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CSDA:NM_001145426:exon8:c.C848G:p.A283G,CSDA:NM_003651:exon9:c.C1055G:p.A352G,;ANNO=splicing:CSDA
12	11285884	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=stoploss:TAS2R30:NM_001097643:exon1:c.G960T:p.X320Y,;ANNO=splicing:TAS2R30
12	11420458	.	C	T	100	PASS	AC=1239;STUDIES=5;MAC=1239;MAF=0.338;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;SNP_ON_LEFT;HWE_FAILURES=2;ANNO=splicing:PRB3(NM_006249:c.724+1G>A)
12	11461154	.	C	G	100	PASS	AC=202;STUDIES=8;MAC=202;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRB4(NM_002723:c.762+1G>C)
12	11461816	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:PRB4:NM_002723:exon3:c.G101A:p.G34E,;ANNO=splicing:PRB4
12	11547428	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:PRB2(NM_006248:c.100+1G>T);ANNO=splicing:PRB2(NM_006248:c.100+1G>A)
12	12879031	.	G	A	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:APOLD1(NM_001130415:c.96+1G>A)
12	12976137	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DDX47:NM_201224:exon7:c.G634A:p.V212I,DDX47:NM_016355:exon7:c.G634A:p.V212I,;ANNO=splicing:DDX47
12	12980308	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DDX47:NM_201224:exon10:c.T1088A:p.M363K,DDX47:NM_016355:exon11:c.T1235A:p.M412K,;ANNO=splicing:DDX47
12	12982358	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DDX47:NM_201224:exon11:c.A1091G:p.E364G,DDX47:NM_016355:exon12:c.A1238G:p.E413G,;ANNO=splicing:DDX47
12	13093785	.	T	C	100	PASS	AC=24;STUDIES=6;MAC=24;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GPRC5D(NM_018654:c.963-2A>G)
12	13224330	.	C	T	100	PASS	AC=78;STUDIES=6;MAC=78;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIAA1467:NM_020853:exon10:c.C1524T:p.S508S,;ANNO=splicing:KIAA1467
12	14773976	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GUCY2C:NM_004963:exon23:c.G2776C:p.G926R,;ANNO=splicing:GUCY2C
12	14778848	.	G	C	100	PASS	AC=22;STUDIES=2;MAC=22;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GUCY2C:NM_004963:exon21:c.C2251G:p.L751V,;ANNO=splicing:GUCY2C
12	14794017	.	A	C	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GUCY2C:NM_004963:exon18:c.T2067G:p.N689K,;ANNO=splicing:GUCY2C
12	14804342	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GUCY2C:NM_004963:exon15:c.G1709A:p.R570Q,;ANNO=splicing:GUCY2C
12	15134334	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PDE6H:NM_006205:exon4:c.A176G:p.D59G,;ANNO=splicing:PDE6H
12	15273998	.	G	A	100	PASS	AC=36;STUDIES=10;MAC=36;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RERG:NM_032918:exon3:c.C117T:p.L39L,;ANNO=splicing:RERG
12	15654555	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PTPRO:NM_002848:exon5:c.C663T:p.A221A,PTPRO:NM_030667:exon5:c.C663T:p.A221A,;ANNO=splicing:PTPRO
12	15776223	.	T	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EPS8(NM_004447:c.2225-2A>T)
12	15784598	.	T	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EPS8:NM_004447:exon18:c.A1822C:p.K608Q,;ANNO=splicing:EPS8
12	15818690	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EPS8:NM_004447:exon8:c.T736C:p.F246L,;ANNO=splicing:EPS8
12	16043532	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:STRAP:NM_007178:exon4:c.A332G:p.D111G,;ANNO=nonsynonymous:STRAP:NM_007178:exon4:c.A332T:p.D111V,;ANNO=splicing:STRAP;ANNO=splicing:STRAP
12	16052839	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:STRAP:NM_007178:exon8:c.A777G:p.E259E,;ANNO=splicing:STRAP
12	16055852	.	A	C	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STRAP:NM_007178:exon10:c.A993C:p.E331D,;ANNO=splicing:STRAP
12	16369828	.	A	T	100	PASS	AC=5492;STUDIES=7;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC15A5:NM_001170798:exon7:c.T1482A:p.D494E,;ANNO=splicing:SLC15A5
12	16377347	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC15A5(NM_001170798:c.1351+1G>A)
12	16397734	.	C	A	100	PASS	AC=2444;STUDIES=7;MAC=2444;MAF=0.469;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC15A5:NM_001170798:exon4:c.G755T:p.R252L,;ANNO=splicing:SLC15A5
12	16507311	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MGST1:NM_145764:exon2:c.A125G:p.K42R,MGST1:NM_145792:exon2:c.A125G:p.K42R,MGST1:NM_020300:exon2:c.A125G:p.K42R,MGST1:NM_145791:exon2:c.A125G:p.K42R,;ANNO=splicing:MGST1
12	18439781	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PIK3C2G:NM_004570:exon3:c.T679A:p.S227T,;ANNO=splicing:PIK3C2G
12	18499771	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PIK3C2G(NM_004570:c.1625+1G>A)
12	18544186	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PIK3C2G:NM_004570:exon14:c.T2003C:p.L668P,;ANNO=splicing:PIK3C2G
12	18552594	.	C	T	100	PASS	AC=72;STUDIES=15;MAC=72;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PIK3C2G:NM_004570:exon15:c.C2005T:p.L669F,;ANNO=splicing:PIK3C2G
12	18715827	.	G	A	100	PASS	AC=27;STUDIES=8;MAC=27;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PIK3C2G(NM_004570:c.3657+1G>A)
12	18849084	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLCZ1:NM_033123:exon11:c.G1291C:p.V431L,;ANNO=splicing:PLCZ1
12	19475601	.	C	T	100	PASS	AC=20;STUDIES=9;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLEKHA5:NM_019012:exon15:c.C2139T:p.A713A,PLEKHA5:NM_001143821:exon17:c.C2313T:p.A771A,;ANNO=splicing:PLEKHA5
12	19518898	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLEKHA5:NM_019012:exon24:c.C3111T:p.S1037S,PLEKHA5:NM_001143821:exon26:c.C3285T:p.S1095S,;ANNO=splicing:PLEKHA5
12	19518899	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLEKHA5:NM_019012:exon24:c.C3112T:p.P1038S,PLEKHA5:NM_001143821:exon26:c.C3286T:p.P1096S,;ANNO=splicing:PLEKHA5
12	20963638	.	G	A	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:SLCO1B3
12	21030707	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:SLCO1B3:NM_019844:exon9:c.T972A:p.G324G,;ANNO=splicing:SLCO1B3
12	21030871	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLCO1B3(NM_019844:c.1135+1G>A)
12	21175782	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LST-3TM12(NM_001009562:c.340-2A>G)
12	21176220	.	G	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:LST-3TM12:NM_001009562:exon5:c.G585C:p.L195L,;ANNO=splicing:LST-3TM12
12	21196511	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LST-3TM12(NM_001009562:c.829+1G>A)
12	21329832	.	G	T	100	PASS	AC=105;STUDIES=5;MAC=105;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLCO1B1(NM_006446:c.481+1G>T)
12	21377774	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLCO1B1(NM_006446:c.1865+1G>A)
12	21467482	.	C	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLCO1A2(NM_134431:c.335+1G>A,NM_021094:c.335+1G>A)
12	21526367	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IAPP(NM_000415:c.80+2T>C)
12	21627774	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RECQL(NM_032941:c.1355+1G>A,NM_002907:c.1355+1G>A)
12	21628403	.	T	G	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RECQL:NM_032941:exon11:c.A1215C:p.A405A,RECQL:NM_002907:exon10:c.A1215C:p.A405A,;ANNO=splicing:RECQL
12	21652490	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RECQL:NM_032941:exon3:c.A15G:p.S5S,RECQL:NM_002907:exon2:c.A15G:p.S5S,;ANNO=splicing:RECQL
12	21665309	.	C	T	100	PASS	AC=69;STUDIES=9;MAC=69;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GOLT1B:NM_016072:exon4:c.C377T:p.S126L,;ANNO=splicing:GOLT1B
12	21680067	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C12orf39(NM_030572:c.87-2A>C)
12	21695431	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GYS2:NM_021957:exon13:c.C1644T:p.Y548Y,;ANNO=splicing:GYS2
12	21981892	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ABCC9:NM_020297:exon29:c.G3669A:p.T1223T,ABCC9:NM_005691:exon29:c.G3669A:p.T1223T,;ANNO=splicing:ABCC9
12	21981893	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCC9:NM_020297:exon29:c.C3668T:p.T1223M,ABCC9:NM_005691:exon29:c.C3668T:p.T1223M,;ANNO=splicing:ABCC9
12	22015989	.	C	T	100	PASS	AC=14;STUDIES=6;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCC9(NM_020297:c.2237-1G>A,NM_005691:c.2237-1G>A)
12	22017410	.	C	T	100	PASS	AC=321;STUDIES=19;MAC=321;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCC9:NM_020297:exon17:c.G2200A:p.V734I,ABCC9:NM_005691:exon17:c.G2200A:p.V734I,;ANNO=splicing:ABCC9
12	22063090	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCC9(NM_020297:c.1320+1G>A,NM_005691:c.1320+1G>A)
12	22440084	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ST8SIA1:NM_003034:exon2:c.A380C:p.Q127P,;ANNO=splicing:ST8SIA1
12	22643056	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA0528(NM_014802:c.1358+1G>A)
12	23737480	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SOX5(NM_178010:c.6+1G>A)
12	23737481	.	A	G	100	PASS	AC=53;STUDIES=7;MAC=53;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SOX5:NM_178010:exon1:c.T6C:p.H2H,;ANNO=splicing:SOX5
12	23757468	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SOX5(NM_006940:c.1017-1G>A,NM_152989:c.978-1G>A)
12	25034236	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BCAT1:NM_001178094:exon4:c.C386T:p.P129L,BCAT1:NM_005504:exon4:c.C389T:p.P130L,BCAT1:NM_001178093:exon4:c.C425T:p.P142L,;ANNO=splicing:BCAT1
12	25147261	.	G	C	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C12orf77:NM_001101339:exon4:c.C408G:p.S136R,;ANNO=splicing:C12orf77
12	25232698	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LRMP(NM_001204127:c.244+1G>A,NM_001204126:c.244+1G>A,NM_006152:c.244+1G>A)
12	25261757	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CASC1:NM_001204101:exon13:c.G1699A:p.V567M,CASC1:NM_001082973:exon15:c.G1876A:p.V626M,CASC1:NM_001204102:exon17:c.G1756A:p.V586M,CASC1:NM_018272:exon16:c.G1894A:p.V632M,;ANNO=splicing:CASC1
12	25276221	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CASC1(NM_018272:c.1002-1G>C,NM_001204102:c.864-1G>C,NM_001082972:c.1176-1G>C,NM_001082973:c.984-1G>C,NM_001204101:c.807-1G>C)
12	25705804	.	C	T	100	PASS	AC=26;STUDIES=4;MAC=26;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IFLTD1(NM_001145728:c.89+1G>A,NM_001145729:c.89+1G>A)
12	26277652	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BHLHE41:NM_030762:exon1:c.G61C:p.G21R,;ANNO=splicing:BHLHE41
12	26816779	.	C	T	100	PASS	AC=29;STUDIES=6;MAC=29;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITPR2:NM_002223:exon15:c.G1552A:p.V518I,;ANNO=splicing:ITPR2
12	27175554	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MED21:NM_004264:exon1:c.G42A:p.S14S,;ANNO=splicing:MED21
12	27543028	.	G	A	100	PASS	AC=120;STUDIES=8;MAC=120;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ARNTL2(NM_020183:c.775-1G>A)
12	27800660	.	A	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PPFIBP1(NM_001198916:c.357-2A>C,NM_177444:c.357-2A>C,NM_003622:c.357-2A>C)
12	27800661	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PPFIBP1(NM_001198916:c.357-1G>C,NM_177444:c.357-1G>C,NM_003622:c.357-1G>C)
12	27800662	.	G	C	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PPFIBP1:NM_177444:exon6:c.G358C:p.V120L,PPFIBP1:NM_001198916:exon6:c.G358C:p.V120L,PPFIBP1:NM_003622:exon6:c.G358C:p.V120L,;ANNO=splicing:PPFIBP1
12	28122893	.	A	G	100	PASS	AC=677;STUDIES=3;MAC=677;MAF=0.326;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:PTHLH
12	29469774	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAR2:NM_018099:exon9:c.G956C:p.G319A,;ANNO=splicing:FAR2
12	29502012	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ERGIC2:NM_016570:exon10:c.C727T:p.H243Y,;ANNO=splicing:ERGIC2
12	29614941	.	T	C	100	PASS	AC=23;STUDIES=5;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OVCH1:NM_183378:exon19:c.A2126G:p.D709G,;ANNO=splicing:OVCH1
12	29670504	.	G	A	100	PASS	AC=1080;STUDIES=19;MAC=1080;MAF=0.049;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:TMTC1:NM_001193451:exon14:c.C2025T:p.R675R,TMTC1:NM_175861:exon14:c.C1701T:p.R567R,;ANNO=splicing:TMTC1
12	29908642	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMTC1:NM_001193451:exon4:c.C731T:p.S244L,TMTC1:NM_175861:exon4:c.C407T:p.S136L,;ANNO=splicing:TMTC1
12	31116951	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TSPAN11:NM_001080509:exon3:c.C275T:p.T92M,;ANNO=splicing:TSPAN11
12	31237518	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:DDX11:NM_004399:exon4:c.C395T:p.A132V,DDX11:NM_152438:exon4:c.C395T:p.A132V,DDX11:NM_030653:exon4:c.C395T:p.A132V,;ANNO=splicing:DDX11
12	31250818	.	G	C	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:DDX11(NM_030653:c.1762-1G>C,NM_152438:c.1762-1G>C,NM_004399:c.1762-1G>C)
12	31255461	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:DDX11:NM_004399:exon22:c.G2222A:p.R741Q,DDX11:NM_152438:exon23:c.G2372A:p.R791Q,DDX11:NM_030653:exon23:c.G2372A:p.R791Q,;ANNO=splicing:DDX11
12	31542431	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DENND5B:NM_144973:exon20:c.G3468C:p.E1156D,;ANNO=splicing:DENND5B
12	31562198	.	G	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DENND5B:NM_144973:exon14:c.C2802T:p.I934I,;ANNO=splicing:DENND5B
12	31566371	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DENND5B:NM_144973:exon13:c.A2680G:p.K894E,;ANNO=splicing:DENND5B
12	31815202	.	G	A	100	PASS	AC=104;STUDIES=14;MAC=104;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:METTL20(NM_001135864:c.314+1G>A,NM_173802:c.314+1G>A,NM_001135863:c.314+1G>A)
12	32860302	.	G	A	100	PASS	AC=3656;STUDIES=22;MAC=3656;MAF=0.151;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DNM1L:NM_012062:exon3:c.G252A:p.G84G,DNM1L:NM_005690:exon3:c.G252A:p.G84G,DNM1L:NM_012063:exon3:c.G252A:p.G84G,;ANNO=splicing:DNM1L
12	32890877	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNM1L(NM_012062:c.1674+1G>C)
12	32903808	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:YARS2:NM_001040436:exon3:c.G948A:p.R316R,;ANNO=splicing:YARS2
12	32949042	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PKP2(NM_004572:c.2489+1G>A,NM_001005242:c.2357+1G>A)
12	32996248	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PKP2(NM_004572:c.1378-1G>A)
12	39696936	.	A	C	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIF21A:NM_001173465:exon32:c.T4403G:p.M1468R,KIF21A:NM_001173463:exon32:c.T4451G:p.M1484R,KIF21A:NM_017641:exon35:c.T4523G:p.M1508R,KIF21A:NM_001173464:exon36:c.T4562G:p.M1521R,;ANNO=splicing:KIF21A
12	39709031	.	C	T	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIF21A:NM_017641:exon30:c.G3920A:p.R1307K,KIF21A:NM_001173464:exon31:c.G3959A:p.R1320K,;ANNO=splicing:KIF21A
12	39760152	.	A	T	100	PASS	AC=125;STUDIES=15;MAC=125;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KIF21A:NM_001173465:exon6:c.T903A:p.L301L,KIF21A:NM_001173463:exon6:c.T903A:p.L301L,KIF21A:NM_017641:exon6:c.T903A:p.L301L,KIF21A:NM_001173464:exon6:c.T903A:p.L301L,;ANNO=splicing:KIF21A
12	40626185	.	A	G	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRRK2:NM_198578:exon3:c.A347G:p.Q116R,;ANNO=splicing:LRRK2
12	40626187	.	T	C	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LRRK2(NM_198578:c.347+2T>C)
12	40702269	.	G	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LRRK2:NM_198578:exon29:c.G3960T:p.R1320S,;ANNO=splicing:LRRK2
12	41333138	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CNTN1:NM_175038:exon11:c.G1197A:p.A399A,CNTN1:NM_001843:exon12:c.G1230A:p.A410A,;ANNO=splicing:CNTN1
12	41585261	.	A	T	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PDZRN4:NM_001164595:exon2:c.A650T:p.D217V,;ANNO=splicing:PDZRN4
12	43770133	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADAMTS20:NM_025003:exon34:c.G5126A:p.C1709Y,;ANNO=splicing:ADAMTS20
12	43822438	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ADAMTS20:NM_025003:exon25:c.C3654T:p.P1218P,;ANNO=splicing:ADAMTS20
12	43847711	.	C	T	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAMTS20:NM_025003:exon12:c.G1759A:p.E587K,;ANNO=splicing:ADAMTS20
12	43886974	.	T	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAMTS20:NM_025003:exon5:c.A950C:p.E317A,;ANNO=splicing:ADAMTS20
12	43887056	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADAMTS20:NM_025003:exon5:c.G868C:p.V290L,;ANNO=splicing:ADAMTS20
12	45171026	.	G	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NELL2:NM_001145108:exon6:c.C678T:p.R226R,NELL2:NM_001145109:exon6:c.C675T:p.R225R,NELL2:NM_001145110:exon7:c.C747T:p.R249R,NELL2:NM_006159:exon7:c.C678T:p.R226R,NELL2:NM_001145107:exon7:c.C828T:p.R276R,;ANNO=splicing:NELL2
12	46230525	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ARID2:NM_152641:exon8:c.A774G:p.E258E,;ANNO=splicing:ARID2
12	46240639	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ARID2:NM_152641:exon12:c.C1499G:p.A500G,;ANNO=splicing:ARID2
12	46287413	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARID2:NM_152641:exon20:c.G5272A:p.D1758N,;ANNO=splicing:ARID2
12	46339033	.	A	G	100	PASS	AC=153;STUDIES=7;MAC=153;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SCAF11:NM_004719:exon6:c.T462C:p.H154H,;ANNO=splicing:SCAF11
12	46623347	.	A	G	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC38A1:NM_001077484:exon4:c.T198C:p.Y66Y,SLC38A1:NM_030674:exon4:c.T198C:p.Y66Y,;ANNO=splicing:SLC38A1
12	46757510	.	G	A	100	PASS	AC=29;STUDIES=12;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC38A2:NM_018976:exon12:c.C1053T:p.Y351Y,;ANNO=splicing:SLC38A2
12	48081660	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RPAP3:NM_001146076:exon7:c.G386A:p.R129Q,RPAP3:NM_001146075:exon8:c.G863A:p.R288Q,RPAP3:NM_024604:exon8:c.G863A:p.R288Q,;ANNO=splicing:RPAP3
12	48105415	.	C	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ENDOU(NM_006025:c.992+1G>C,NM_001172440:c.926+1G>C,NM_001172439:c.1115+1G>C)
12	48105557	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:ENDOU:NM_001172439:exon9:c.G974A:p.W325X,ENDOU:NM_006025:exon8:c.G851A:p.W284X,ENDOU:NM_001172440:exon7:c.G785A:p.W262X,;ANNO=splicing:ENDOU
12	48110673	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ENDOU:NM_001172439:exon5:c.C551T:p.P184L,ENDOU:NM_006025:exon4:c.C428T:p.P143L,ENDOU:NM_001172440:exon3:c.C362T:p.P121L,;ANNO=splicing:ENDOU
12	48131467	.	G	A	100	PASS	AC=20;STUDIES=9;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RAPGEF3:NM_001098532:exon27:c.C2529T:p.C843C,RAPGEF3:NM_006105:exon28:c.C2529T:p.C843C,RAPGEF3:NM_001098531:exon28:c.C2655T:p.C885C,;ANNO=splicing:RAPGEF3
12	48189798	.	G	C	100	PASS	AC=19;STUDIES=2;MAC=19;MAF=0.086;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HDAC7:NM_015401:exon9:c.C797G:p.A266G,;ANNO=splicing:HDAC7
12	48240233	.	G	A	100	PASS	AC=42;STUDIES=10;MAC=42;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:VDR:NM_001017536:exon9:c.C1059T:p.A353A,VDR:NM_000376:exon9:c.C909T:p.A303A,VDR:NM_001017535:exon10:c.C909T:p.A303A,;ANNO=splicing:VDR
12	48258959	.	G	C	100	PASS	AC=23;STUDIES=2;MAC=23;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:VDR:NM_001017536:exon4:c.C298G:p.R100G,VDR:NM_000376:exon4:c.C148G:p.R50G,VDR:NM_001017535:exon5:c.C148G:p.R50G,;ANNO=splicing:VDR
12	48367873	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL2A1:NM_033150:exon52:c.C4109T:p.T1370M,COL2A1:NM_001844:exon53:c.C4316T:p.T1439M,;ANNO=splicing:COL2A1
12	48375127	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL2A1:NM_033150:exon36:c.C2255T:p.P752L,COL2A1:NM_001844:exon37:c.C2462T:p.P821L,;ANNO=splicing:COL2A1
12	48381394	.	G	A	100	PASS	AC=116;STUDIES=19;MAC=116;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL2A1:NM_033150:exon18:c.C1014T:p.S338S,COL2A1:NM_001844:exon19:c.C1221T:p.S407S,;ANNO=splicing:COL2A1
12	48383545	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL2A1:NM_033150:exon16:c.C860T:p.P287L,COL2A1:NM_001844:exon17:c.C1067T:p.P356L,;ANNO=splicing:COL2A1
12	48531629	.	G	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PFKM:NM_001166686:exon13:c.G1275T:p.V425V,PFKM:NM_000289:exon11:c.G1062T:p.V354V,PFKM:NM_001166687:exon11:c.G1062T:p.V354V,PFKM:NM_001166688:exon10:c.G1062T:p.V354V,;ANNO=splicing:PFKM
12	48888763	.	A	G	100	PASS	AC=4820;STUDIES=7;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=2;ANNO=splicing:C12orf54(NM_152319:c.424+1A>G)
12	48920303	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:OR8S1(NM_001005203:c.888+1G>A)
12	49220637	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CACNB3:NM_001206915:exon10:c.G867A:p.P289P,CACNB3:NM_001206917:exon11:c.G951A:p.P317P,CACNB3:NM_000725:exon11:c.G990A:p.P330P,CACNB3:NM_001206916:exon11:c.G987A:p.P329P,;ANNO=splicing:CACNB3
12	49255792	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RND1:NM_014470:exon3:c.G318A:p.K106K,;ANNO=splicing:RND1
12	49428717	.	G	A	100	PASS	AC=32;STUDIES=11;MAC=32;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MLL2:NM_003482:exon35:c.C10233T:p.D3411D,;ANNO=splicing:MLL2
12	49439750	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MLL2:NM_003482:exon18:c.C4694T:p.A1565V,;ANNO=splicing:MLL2
12	49485171	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DHH:NM_021044:exon2:c.G305A:p.R102H,;ANNO=splicing:DHH
12	49499708	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LMBR1L:NM_018113:exon3:c.G190A:p.A64T,;ANNO=splicing:LMBR1L
12	49691057	.	G	A	100	PASS	AC=121;STUDIES=15;MAC=121;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRPH(NM_006262:c.996+1G>A)
12	49982238	.	G	A	100	PASS	AC=37;STUDIES=5;MAC=37;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM186B:NM_032130:exon6:c.C2533T:p.R845C,;ANNO=splicing:FAM186B
12	49993253	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM186B:NM_032130:exon4:c.C2170T:p.R724W,;ANNO=splicing:FAM186B
12	49998097	.	C	G	100	PASS	AC=29;STUDIES=9;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM186B:NM_032130:exon2:c.G321C:p.W107C,;ANNO=splicing:FAM186B
12	50026663	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PRPF40B:NM_001031698:exon5:c.G282A:p.P94P,PRPF40B:NM_012272:exon5:c.G264A:p.P88P,;ANNO=splicing:PRPF40B
12	50187215	.	G	A	100	PASS	AC=21;STUDIES=6;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NCKAP5L:NM_001037806:exon10:c.C3260T:p.P1087L,;ANNO=splicing:NCKAP5L
12	50395034	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:RACGAP1:NM_013277:exon9:c.G551A:p.R184H,RACGAP1:NM_001126104:exon7:c.G551A:p.R184H,RACGAP1:NM_001126103:exon9:c.G551A:p.R184H,;ANNO=splicing:RACGAP1
12	50471784	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ACCN2:NM_020039:exon5:c.C711T:p.D237D,ACCN2:NM_001095:exon5:c.C711T:p.D237D,;ANNO=splicing:ACCN2
12	50500071	.	G	A	100	PASS	AC=32;STUDIES=11;MAC=32;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPD1:NM_005276:exon4:c.G361A:p.G121R,;ANNO=splicing:GPD1
12	50500700	.	G	A	100	PASS	AC=49;STUDIES=14;MAC=49;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GPD1:NM_005276:exon5:c.G612A:p.K204K,;ANNO=splicing:GPD1
12	50537839	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CERS5:NM_147190:exon2:c.T199C:p.F67L,;ANNO=splicing:CERS5
12	50754708	.	A	G	100	PASS	AC=30;STUDIES=3;MAC=30;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FAM186A:NM_001145475:exon3:c.T414C:p.N138N,;ANNO=splicing:FAM186A
12	50821692	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LARP4:NM_052879:exon2:c.G166A:p.G56S,LARP4:NM_001170804:exon2:c.G166A:p.G56S,LARP4:NM_001170803:exon2:c.G166A:p.G56S,LARP4:NM_001170808:exon2:c.G166A:p.G56S,LARP4:NM_199188:exon2:c.G163A:p.G55S,LARP4:NM_199190:exon2:c.G166A:p.G56S,;ANNO=splicing:LARP4
12	51112601	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DIP2B:NM_173602:exon24:c.G2961C:p.K987N,;ANNO=splicing:DIP2B
12	51112738	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DIP2B:NM_173602:exon25:c.C2962T:p.H988Y,;ANNO=splicing:DIP2B
12	51135200	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DIP2B:NM_173602:exon37:c.G4356A:p.E1452E,;ANNO=splicing:DIP2B
12	51203371	.	C	T	100	PASS	AC=9531;STUDIES=22;MAC=9531;MAF=0.393;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=synonymous:ATF1:NM_005171:exon4:c.C327T:p.Y109Y,;ANNO=splicing:ATF1
12	51399219	.	A	G	100	PASS	AC=79;STUDIES=5;MAC=79;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC11A2:NM_001174125:exon4:c.T271C:p.Y91H,SLC11A2:NM_000617:exon4:c.T184C:p.Y62H,SLC11A2:NM_001174129:exon4:c.T184C:p.Y62H,SLC11A2:NM_001174126:exon4:c.T184C:p.Y62H,SLC11A2:NM_001174127:exon4:c.T184C:p.Y62H,SLC11A2:NM_001174128:exon4:c.T184C:p.Y62H,SLC11A2:NM_001174130:exon3:c.T172C:p.Y58H,;ANNO=splicing:SLC11A2
12	51445991	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LETMD1(NM_015416:c.390+1G>A,NM_001024668:c.222+1G>A)
12	51695899	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:BIN2:NM_016293:exon5:c.A313G:p.N105D,;ANNO=splicing:BIN2
12	51723468	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CELA1:NM_001971:exon7:c.T759C:p.N253N,;ANNO=splicing:CELA1
12	51740405	.	A	C	100	PASS	AC=19;STUDIES=2;MAC=19;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CELA1(NM_001971:c.16+2T>G)
12	51740406	.	C	A	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CELA1(NM_001971:c.16+1G>T)
12	51740407	.	C	G	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CELA1:NM_001971:exon1:c.G16C:p.G6R,;ANNO=splicing:CELA1
12	51740408	.	A	C	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:CELA1:NM_001971:exon1:c.T15G:p.Y5X,;ANNO=splicing:CELA1
12	51745834	.	C	T	100	PASS	AC=491;STUDIES=2;MAC=491;MAF=0.256;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:GALNT6
12	51754506	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GALNT6:NM_007210:exon7:c.G1166A:p.R389Q,;ANNO=splicing:GALNT6
12	52682240	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:KRT81:NM_002281:exon4:c.G640A:p.D214N,;ANNO=splicing:KRT81
12	52698717	.	A	G	100	PASS	AC=129;STUDIES=7;MAC=129;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:KRT86:NM_002284:exon4:c.A641G:p.D214G,;ANNO=splicing:KRT86
12	52710643	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KRT83:NM_002282:exon5:c.G915A:p.K305K,;ANNO=splicing:KRT83
12	52758953	.	A	C	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:KRT85:NM_002283:exon2:c.T422G:p.V141G,;ANNO=splicing:KRT85
12	52774147	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:KRT84:NM_033045:exon7:c.G1424A:p.R475Q,;ANNO=splicing:KRT84
12	52774366	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:KRT84:NM_033045:exon7:c.G1205A:p.R402H,;ANNO=splicing:KRT84
12	52789795	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:KRT82(NM_033033:c.1289+1G>A)
12	52793770	.	C	T	100	PASS	AC=30;STUDIES=11;MAC=30;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KRT82:NM_033033:exon5:c.G941A:p.R314Q,;ANNO=splicing:KRT82
12	52820635	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KRT75:NM_004693:exon8:c.G1383A:p.R461R,;ANNO=splicing:KRT75
12	52865517	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KRT6C(NM_173086:c.755-1G>C)
12	52962172	.	C	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:KRT74:NM_175053:exon7:c.G1136T:p.R379L,;ANNO=splicing:KRT74
12	52963643	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KRT74:NM_175053:exon6:c.G1134A:p.Q378Q,;ANNO=splicing:KRT74
12	52965240	.	T	C	100	PASS	AC=26;STUDIES=10;MAC=26;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KRT74(NM_175053:c.747-2A>G)
12	52984620	.	C	T	100	PASS	AC=5461;STUDIES=22;MAC=5461;MAF=0.225;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KRT72:NM_080747:exon6:c.G1089A:p.Q363Q,KRT72:NM_001146225:exon6:c.G1089A:p.Q363Q,;ANNO=splicing:KRT72
12	53004398	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:KRT73(NM_175068:c.1331+1G>A)
12	53004621	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KRT73(NM_175068:c.1110-2A>G)
12	53007636	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KRT73:NM_175068:exon5:c.G820A:p.E274K,;ANNO=splicing:KRT73
12	53042792	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KRT2:NM_000423:exon4:c.C956T:p.A319V,;ANNO=splicing:KRT2
12	53044124	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KRT2:NM_000423:exon2:c.A799C:p.K267Q,;ANNO=splicing:KRT2
12	53044336	.	A	C	100	PASS	AC=151;STUDIES=2;MAC=151;MAF=0.214;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:KRT2:NM_000423:exon2:c.T587G:p.V196G,;ANNO=splicing:KRT2
12	53292462	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:KRT8(NM_002273:c.1202+1G>A)
12	53292464	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:KRT8:NM_002273:exon6:c.C1201T:p.R401W,;ANNO=splicing:KRT8
12	53433486	.	C	T	100	PASS	AC=17010;STUDIES=19;MAC=2118;MAF=0.111;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;HWE_FAILURES=3;ANNO=synonymous:EIF4B:NM_001417:exon14:c.C1755T:p.S585S,;ANNO=splicing:EIF4B
12	53497445	.	T	A	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SOAT2(NM_003578:c.82+2T>A)
12	53497989	.	A	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SOAT2:NM_003578:exon2:c.A137C:p.E46A,;ANNO=splicing:SOAT2
12	53512134	.	G	T	100	PASS	AC=19;STUDIES=8;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SOAT2:NM_003578:exon8:c.G779T:p.G260V,;ANNO=splicing:SOAT2
12	53514666	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SOAT2:NM_003578:exon11:c.G1136A:p.R379Q,;ANNO=splicing:SOAT2
12	53515184	.	G	A	100	PASS	AC=11;STUDIES=8;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SOAT2:NM_003578:exon12:c.G1235A:p.R412Q,;ANNO=splicing:SOAT2
12	53553905	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CSAD:NM_015989:exon14:c.C1246T:p.R416W,;ANNO=splicing:CSAD
12	53554103	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CSAD:NM_015989:exon14:c.A1048G:p.N350D,;ANNO=splicing:CSAD
12	53554548	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CSAD:NM_015989:exon13:c.C1046T:p.S349L,;ANNO=splicing:CSAD
12	53566222	.	T	C	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CSAD(NM_015989:c.334-2A>G)
12	53624954	.	C	G	100	PASS	AC=308;STUDIES=2;MAC=308;MAF=0.156;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:RARG
12	53671605	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ESPL1:NM_012291:exon11:c.C2225T:p.A742V,;ANNO=splicing:ESPL1
12	53673650	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ESPL1:NM_012291:exon12:c.G2499A:p.Q833Q,;ANNO=splicing:ESPL1
12	53675412	.	T	C	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ESPL1(NM_012291:c.2619+2T>C)
12	53693054	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PFDN5:NM_145897:exon4:c.C255T:p.A85A,PFDN5:NM_002624:exon6:c.C390T:p.A130A,;ANNO=splicing:PFDN5
12	53709210	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AAAS:NM_001173466:exon4:c.T308C:p.V103A,AAAS:NM_015665:exon4:c.T308C:p.V103A,;ANNO=splicing:AAAS
12	53800369	.	G	A	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SP1:NM_138473:exon4:c.G1676A:p.G559D,SP1:NM_003109:exon4:c.G1655A:p.G552D,;ANNO=splicing:SP1
12	53819239	.	C	T	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AMHR2:NM_001164691:exon5:c.C503T:p.A168V,AMHR2:NM_020547:exon5:c.C503T:p.A168V,AMHR2:NM_001164690:exon5:c.C503T:p.A168V,;ANNO=splicing:AMHR2
12	53839797	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:PRR13(NM_018457:c.402-2A>C,NM_001005354:c.252-2A>C)
12	53898920	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TARBP2:NM_004178:exon7:c.G552A:p.G184G,TARBP2:NM_134324:exon7:c.G552A:p.G184G,TARBP2:NM_134323:exon7:c.G615A:p.G205G,;ANNO=splicing:TARBP2
12	53899633	.	T	C	100	PASS	AC=206;STUDIES=9;MAC=206;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TARBP2:NM_004178:exon8:c.T879C:p.I293I,TARBP2:NM_134324:exon8:c.T879C:p.I293I,TARBP2:NM_134323:exon8:c.T942C:p.I314I,;ANNO=splicing:TARBP2
12	54427360	.	G	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HOXC5:NM_018953:exon1:c.G454C:p.E152Q,;ANNO=splicing:HOXC5
12	54778212	.	G	A	100	PASS	AC=157;STUDIES=17;MAC=157;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF385A:NM_015481:exon1:c.C87T:p.T29T,ZNF385A:NM_001130968:exon2:c.C147T:p.T49T,ZNF385A:NM_001130967:exon2:c.C147T:p.T49T,;ANNO=splicing:ZNF385A
12	54793733	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITGA5(NM_002205:c.2643-2A>T)
12	54796833	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITGA5:NM_002205:exon19:c.C1916G:p.A639G,;ANNO=splicing:ITGA5
12	54799449	.	C	T	100	PASS	AC=21;STUDIES=5;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:ITGA5:NM_002205:exon11:c.G1015A:p.G339R,;ANNO=splicing:ITGA5
12	54858950	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GTSF1:NM_144594:exon3:c.C18T:p.T6T,;ANNO=splicing:GTSF1
12	54901693	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NCKAP1L:NM_001184976:exon4:c.C213T:p.I71I,NCKAP1L:NM_005337:exon4:c.C363T:p.I121I,;ANNO=splicing:NCKAP1L
12	54905587	.	A	C	100	PASS	AC=20;STUDIES=5;MAC=20;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NCKAP1L:NM_001184976:exon8:c.A586C:p.M196L,NCKAP1L:NM_005337:exon8:c.A736C:p.M246L,;ANNO=splicing:NCKAP1L
12	54911426	.	C	T	100	PASS	AC=1624;STUDIES=22;MAC=1624;MAF=0.067;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NCKAP1L:NM_001184976:exon12:c.C1055T:p.S352L,NCKAP1L:NM_005337:exon12:c.C1205T:p.S402L,;ANNO=splicing:NCKAP1L
12	54969777	.	G	T	100	PASS	AC=57;STUDIES=14;MAC=57;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PDE1B:NM_000924:exon13:c.G1269T:p.G423G,PDE1B:NM_001165975:exon12:c.G1209T:p.G403G,;ANNO=splicing:PDE1B
12	54974729	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PPP1R1A:NM_006741:exon6:c.C509T:p.S170L,;ANNO=splicing:PPP1R1A
12	55026024	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LACRT(NM_033277:c.253+1G>A)
12	55040904	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DCD(NM_053283:c.97+1G>A)
12	55725485	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OR6C3:NM_054104:exon1:c.A1G:p.M1V,;ANNO=splicing:OR6C3
12	56091605	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ITGA7:NM_001144997:exon9:c.T1004C:p.V335A,ITGA7:NM_001144996:exon9:c.T1295C:p.V432A,ITGA7:NM_002206:exon9:c.T1283C:p.V428A,;ANNO=splicing:ITGA7
12	56109979	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BLOC1S1:NM_001487:exon1:c.G144A:p.Q48Q,;ANNO=splicing:BLOC1S1
12	56184352	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SARNP:NM_033082:exon8:c.T431C:p.M144T,;ANNO=splicing:SARNP
12	56236136	.	C	T	100	PASS	AC=33;STUDIES=11;MAC=33;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MMP19(NM_002429:c.173+1G>A)
12	56345408	.	T	G	100	PASS	AC=1231;STUDIES=16;MAC=1231;MAF=0.065;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DGKA:NM_001345:exon18:c.T1428G:p.G476G,DGKA:NM_201445:exon19:c.T1428G:p.G476G,DGKA:NM_201444:exon18:c.T1428G:p.G476G,DGKA:NM_201554:exon18:c.T1428G:p.G476G,;ANNO=splicing:DGKA
12	56396504	.	G	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SUOX:NM_000456:exon5:c.G228T:p.R76S,SUOX:NM_001032387:exon3:c.G228T:p.R76S,SUOX:NM_001032386:exon4:c.G228T:p.R76S,;ANNO=splicing:SUOX
12	56428356	.	C	T	100	PASS	AC=19;STUDIES=4;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:IKZF4:NM_022465:exon8:c.C999T:p.G333G,;ANNO=splicing:IKZF4
12	56437277	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:RPS26:NM_001029:exon3:c.G312A:p.A104A,;ANNO=splicing:RPS26
12	56494029	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ERBB3:NM_001982:exon26:c.G3201A:p.Q1067Q,;ANNO=splicing:ERBB3
12	56505312	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PA2G4:NM_006191:exon12:c.A1118G:p.K373R,;ANNO=splicing:PA2G4
12	56532058	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ESYT1(NM_015292:c.2337+2T>C,NM_001184796:c.2367+2T>C)
12	56532282	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ESYT1:NM_015292:exon22:c.C2432T:p.P811L,ESYT1:NM_001184796:exon22:c.C2462T:p.P821L,;ANNO=splicing:ESYT1
12	56554411	.	G	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:MYL6:NM_021019:exon6:c.G429A:p.A143A,;ANNO=splicing:MYL6
12	56626656	.	T	C	100	PASS	AC=62;STUDIES=5;MAC=62;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC39A5:NM_001135195:exon3:c.T471C:p.D157D,SLC39A5:NM_173596:exon5:c.T471C:p.D157D,;ANNO=splicing:SLC39A5
12	56663345	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COQ10A:NM_144576:exon4:c.G576A:p.S192S,COQ10A:NM_001099337:exon4:c.G480A:p.S160S,;ANNO=splicing:COQ10A
12	56743044	.	G	A	100	PASS	AC=130;STUDIES=11;MAC=130;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STAT2:NM_198332:exon16:c.C1331T:p.T444M,STAT2:NM_005419:exon16:c.C1343T:p.T448M,;ANNO=splicing:STAT2
12	56817259	.	G	C	100	PASS	AC=45;STUDIES=9;MAC=45;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TIMELESS:NM_003920:exon18:c.C2091G:p.R697R,;ANNO=splicing:TIMELESS
12	56824664	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:TIMELESS(NM_003920:c.909+1G>C);ANNO=splicing:TIMELESS(NM_003920:c.909+1G>A)
12	56824665	.	G	A	100	PASS	AC=42;STUDIES=5;MAC=42;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TIMELESS:NM_003920:exon9:c.C909T:p.N303N,;ANNO=splicing:TIMELESS
12	56956367	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:RBMS2:NM_002898:exon2:c.C233T:p.P78L,;ANNO=splicing:RBMS2
12	56956368	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RBMS2(NM_002898:c.233+1G>A)
12	57178800	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HSD17B6:NM_003725:exon4:c.C736T:p.L246F,;ANNO=splicing:HSD17B6
12	57323336	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SDR9C7:NM_148897:exon3:c.C562T:p.R188C,;ANNO=splicing:SDR9C7
12	57407173	.	C	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TAC3(NM_001178054:c.208-1G>C,NM_013251:c.208-1G>C)
12	57431331	.	C	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYO1A(NM_005379:c.2055+1G>T)
12	57431332	.	A	G	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYO1A:NM_005379:exon19:c.T2055C:p.T685T,;ANNO=splicing:MYO1A
12	57457854	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM194A:NM_015257:exon5:c.A535C:p.S179R,TMEM194A:NM_001130963:exon6:c.A754C:p.S252R,;ANNO=splicing:TMEM194A
12	57567762	.	C	T	100	PASS	AC=8778;STUDIES=22;MAC=8778;MAF=0.362;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LRP1:NM_002332:exon22:c.C3546T:p.C1182C,;ANNO=splicing:LRP1
12	57586960	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LRP1:NM_002332:exon46:c.G7557A:p.A2519A,;ANNO=splicing:LRP1
12	57593182	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LRP1:NM_002332:exon61:c.C9864T:p.D3288D,;ANNO=splicing:LRP1
12	57594318	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRP1:NM_002332:exon63:c.C10108T:p.P3370S,;ANNO=splicing:LRP1
12	57600524	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LRP1:NM_002332:exon76:c.C11859T:p.N3953N,;ANNO=splicing:LRP1
12	57643420	.	C	T	100	PASS	AC=25;STUDIES=9;MAC=25;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:STAC3
12	57849876	.	G	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:INHBE(NM_031479:c.298-1G>C)
12	57859708	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GLI1:NM_001160045:exon5:c.C378T:p.H126H,GLI1:NM_005269:exon7:c.C762T:p.H254H,GLI1:NM_001167609:exon6:c.C639T:p.H213H,;ANNO=splicing:GLI1
12	57871243	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARHGAP9:NM_001080156:exon2:c.C203T:p.T68M,ARHGAP9:NM_032496:exon4:c.C755T:p.T252M,ARHGAP9:NM_001080157:exon3:c.C755T:p.T252M,;ANNO=splicing:ARHGAP9
12	57873423	.	A	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:ARHGAP9
12	57909118	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MARS:NM_004990:exon18:c.C2390T:p.T797I,;ANNO=splicing:MARS
12	57909119	.	A	C	100	PASS	AC=29;STUDIES=10;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MARS:NM_004990:exon18:c.A2391C:p.T797T,;ANNO=splicing:MARS
12	57926768	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DCTN2:NM_006400:exon9:c.T774C:p.H258H,;ANNO=splicing:DCTN2
12	58007901	.	G	A	100	PASS	AC=8;STUDIES=7;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ARHGEF25:NM_001111270:exon7:c.G772A:p.D258N,ARHGEF25:NM_182947:exon6:c.G655A:p.D219N,;ANNO=splicing:ARHGEF25
12	58009799	.	C	T	100	PASS	AC=194;STUDIES=10;MAC=194;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGEF25:NM_001111270:exon14:c.C1536T:p.N512N,ARHGEF25:NM_182947:exon13:c.C1419T:p.N473N,;ANNO=splicing:ARHGEF25
12	58015624	.	T	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC26A10:NM_133489:exon4:c.T707G:p.L236W,;ANNO=splicing:SLC26A10
12	58018940	.	G	T	100	PASS	AC=184;STUDIES=5;MAC=184;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC26A10(NM_133489:c.1378+1G>T)
12	58110477	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OS9:NM_001017958:exon9:c.A995G:p.E332G,OS9:NM_006812:exon9:c.A995G:p.E332G,OS9:NM_001017956:exon9:c.A995G:p.E332G,OS9:NM_001017957:exon9:c.A995G:p.E332G,;ANNO=splicing:OS9
12	58125149	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AGAP2:NM_014770:exon10:c.C1137T:p.N379N,AGAP2:NM_001122772:exon10:c.C2145T:p.N715N,;ANNO=splicing:AGAP2
12	58126761	.	G	A	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AGAP2:NM_014770:exon6:c.C543T:p.D181D,AGAP2:NM_001122772:exon6:c.C1551T:p.D517D,;ANNO=splicing:AGAP2
12	58158537	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CYP27B1:NM_000785:exon5:c.G963T:p.T321T,;ANNO=splicing:CYP27B1
12	58159791	.	C	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CYP27B1:NM_000785:exon2:c.G385A:p.A129T,;ANNO=splicing:CYP27B1
12	58174038	.	G	C	100	PASS	AC=29;STUDIES=15;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:METTL21B:NM_206914:exon4:c.G429C:p.R143S,METTL21B:NM_015433:exon3:c.G290C:p.G97A,;ANNO=splicing:METTL21B
12	58335671	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:XRCC6BP1:NM_033276:exon1:c.A187G:p.N63D,;ANNO=splicing:XRCC6BP1
12	59270228	.	A	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LRIG3:NM_153377:exon16:c.T2694A:p.S898R,LRIG3:NM_001136051:exon16:c.T2514A:p.S838R,;ANNO=splicing:LRIG3
12	59279683	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRIG3:NM_153377:exon10:c.A1174G:p.I392V,LRIG3:NM_001136051:exon10:c.A994G:p.I332V,;ANNO=splicing:LRIG3
12	59313208	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRIG3:NM_001136051:exon1:c.C56A:p.P19Q,;ANNO=splicing:LRIG3
12	62895478	.	A	G	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MON2:NM_015026:exon7:c.A789G:p.Q263Q,;ANNO=splicing:MON2
12	62959811	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MON2:NM_015026:exon28:c.G4194A:p.P1398P,;ANNO=splicing:MON2
12	63541427	.	T	G	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AVPR1A(NM_000706:c.970-2A>C)
12	64873902	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TBK1:NM_013254:exon7:c.G812A:p.R271Q,;ANNO=splicing:TBK1
12	64875801	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TBK1:NM_013254:exon8:c.C992T:p.T331I,;ANNO=splicing:TBK1
12	64889263	.	C	A	100	PASS	AC=24;STUDIES=3;MAC=24;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TBK1:NM_013254:exon14:c.C1522A:p.L508I,;ANNO=splicing:TBK1
12	65637248	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LEMD3:NM_014319:exon10:c.A2386T:p.M796L,LEMD3:NM_001167614:exon10:c.A2383T:p.M795L,;ANNO=splicing:LEMD3
12	65720604	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MSRB3(NM_001193460:c.76-2A>G,NM_198080:c.97-2A>G,NM_001031679:c.76-2A>G,NM_001193461:c.76-2A>G)
12	66547227	.	G	A	100	PASS	AC=52;STUDIES=15;MAC=52;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TMBIM4:NM_016056:exon2:c.C99T:p.A33A,;ANNO=splicing:TMBIM4
12	66603301	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IRAK3(NM_007199:c.381+1G>T,NM_001142523:c.198+1G>T)
12	66603980	.	A	G	100	PASS	AC=278;STUDIES=21;MAC=278;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IRAK3:NM_001142523:exon3:c.A252G:p.K84K,IRAK3:NM_007199:exon4:c.A435G:p.K145K,;ANNO=splicing:IRAK3
12	66638878	.	C	T	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IRAK3:NM_001142523:exon10:c.C967T:p.R323W,IRAK3:NM_007199:exon11:c.C1150T:p.R384W,;ANNO=splicing:IRAK3
12	66638879	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IRAK3:NM_001142523:exon10:c.G968A:p.R323Q,IRAK3:NM_007199:exon11:c.G1151A:p.R384Q,;ANNO=splicing:IRAK3
12	66849189	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GRIP1:NM_001178074:exon10:c.T1198C:p.L400L,GRIP1:NM_021150:exon10:c.T1198C:p.L400L,;ANNO=splicing:GRIP1
12	69113122	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NUP107:NM_020401:exon13:c.C1085T:p.A362V,;ANNO=splicing:NUP107
12	69145971	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC35E3(NM_018656:c.672+1G>C)
12	69153020	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC35E3(NM_018656:c.755+1G>A)
12	69263103	.	A	G	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CPM(NM_001874:c.787+2T>C,NM_198320:c.787+2T>C,NM_001005502:c.787+2T>C)
12	69326457	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CPM(NM_001874:c.160+1G>A,NM_198320:c.160+1G>A,NM_001005502:c.160+1G>A)
12	70929806	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PTPRB:NM_001206971:exon26:c.G5156A:p.R1719Q,PTPRB:NM_001206972:exon26:c.G5156A:p.R1719Q,PTPRB:NM_001109754:exon29:c.G6080A:p.R2027Q,PTPRB:NM_002837:exon27:c.G5426A:p.R1809Q,;ANNO=splicing:PTPRB
12	70931935	.	A	C	100	PASS	AC=37;STUDIES=5;MAC=37;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PTPRB:NM_001206971:exon25:c.T5022G:p.P1674P,PTPRB:NM_001206972:exon25:c.T5022G:p.P1674P,PTPRB:NM_001109754:exon28:c.T5946G:p.P1982P,PTPRB:NM_002837:exon26:c.T5292G:p.P1764P,;ANNO=splicing:PTPRB
12	71148080	.	T	C	100	PASS	AC=10;STUDIES=9;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTPRR:NM_002849:exon5:c.A629G:p.K210R,PTPRR:NM_001207015:exon4:c.A293G:p.K98R,PTPRR:NM_001207016:exon2:c.A11G:p.K4R,;ANNO=splicing:PTPRR
12	71526474	.	T	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TSPAN8:NM_004616:exon7:c.A575T:p.E192V,;ANNO=splicing:TSPAN8
12	71946853	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LGR5:NM_003667:exon5:c.G429A:p.L143L,;ANNO=splicing:LGR5
12	71972585	.	G	A	100	PASS	AC=170;STUDIES=19;MAC=170;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LGR5:NM_003667:exon15:c.G1282A:p.D428N,;ANNO=splicing:LGR5
12	71974058	.	G	C	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LGR5:NM_003667:exon16:c.G1407C:p.K469N,;ANNO=splicing:LGR5
12	72335364	.	C	G	100	PASS	AC=61;STUDIES=6;MAC=61;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TPH2:NM_173353:exon2:c.C106G:p.L36V,;ANNO=splicing:TPH2
12	72338074	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TPH2:NM_173353:exon3:c.G256C:p.E86Q,;ANNO=splicing:TPH2
12	72338466	.	A	G	100	PASS	AC=70;STUDIES=13;MAC=70;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TPH2:NM_173353:exon4:c.A540G:p.P180P,;ANNO=splicing:TPH2
12	75678741	.	C	T	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CAPS2:NM_032606:exon16:c.G1572A:p.K524K,;ANNO=splicing:CAPS2
12	75693691	.	C	T	100	PASS	AC=484;STUDIES=20;MAC=484;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CAPS2:NM_032606:exon10:c.G837A:p.K279K,;ANNO=splicing:CAPS2
12	75723613	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CAPS2:NM_032606:exon1:c.A27G:p.A9A,;ANNO=splicing:CAPS2
12	75900262	.	A	G	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KRR1(NM_007043:c.519+2T>C)
12	76461252	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NAP1L1:NM_004537:exon4:c.A105G:p.A35A,NAP1L1:NM_139207:exon4:c.A105G:p.A35A,;ANNO=splicing:NAP1L1
12	76881291	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OSBPL8:NM_020841:exon2:c.C41T:p.S14L,;ANNO=splicing:OSBPL8
12	77202823	.	A	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZDHHC17:NM_015336:exon4:c.A321G:p.K107K,;ANNO=splicing:ZDHHC17
12	78542699	.	T	C	100	PASS	AC=6152;STUDIES=19;MAC=6152;MAF=0.332;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=3;ANNO=synonymous:NAV3:NM_014903:exon22:c.T4785C:p.N1595N,;ANNO=splicing:NAV3
12	78592455	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NAV3:NM_014903:exon35:c.A6451G:p.R2151G,;ANNO=splicing:NAV3
12	80199944	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PPP1R12A(NM_001143886:c.1562+2T>C,NM_002480:c.1823+2T>C,NM_001143885:c.1823+2T>C)
12	80633113	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OTOGL:NM_173591:exon10:c.G919A:p.A307T,;ANNO=splicing:OTOGL
12	80645980	.	T	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OTOGL:NM_173591:exon12:c.T1257A:p.D419E,;ANNO=splicing:OTOGL
12	80699475	.	G	T	100	PASS	AC=1312;STUDIES=16;MAC=1312;MAF=0.075;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OTOGL:NM_173591:exon28:c.G3306T:p.Q1102H,;ANNO=splicing:OTOGL
12	80765800	.	A	G	100	PASS	AC=10764;STUDIES=17;MAC=8066;MAF=0.428;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:OTOGL:NM_173591:exon56:c.A6710G:p.N2237S,;ANNO=splicing:OTOGL
12	80900348	.	T	G	100	PASS	AC=1698;STUDIES=6;MAC=1698;MAF=0.276;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PTPRQ:NM_001145026:exon13:c.T1940G:p.V647G,;ANNO=splicing:PTPRQ
12	81051764	.	A	G	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PTPRQ:NM_001145026:exon36:c.A5600G:p.Y1867C,;ANNO=splicing:PTPRQ
12	81593224	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACSS3(NM_024560:c.1354+1G>A)
12	81671193	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PPFIA2:NM_003625:exon28:c.A3213T:p.R1071R,PPFIA2:NM_001220476:exon27:c.A3195T:p.R1065R,PPFIA2:NM_001220479:exon16:c.A1821T:p.R607R,PPFIA2:NM_001220475:exon26:c.A3150T:p.R1050R,PPFIA2:NM_001220478:exon24:c.A2898T:p.R966R,PPFIA2:NM_001220474:exon27:c.A3168T:p.R1056R,PPFIA2:NM_001220477:exon24:c.A2910T:p.R970R,PPFIA2:NM_001220473:exon27:c.A3213T:p.R1071R,PPFIA2:NM_001220480:exon17:c.A771T:p.R257R,;ANNO=splicing:PPFIA2
12	81778022	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PPFIA2:NM_003625:exon9:c.G764A:p.R255H,PPFIA2:NM_001220476:exon8:c.G764A:p.R255H,PPFIA2:NM_001220475:exon8:c.G764A:p.R255H,PPFIA2:NM_001220478:exon5:c.G467A:p.R156H,PPFIA2:NM_001220474:exon7:c.G710A:p.R237H,PPFIA2:NM_001220477:exon6:c.G542A:p.R181H,PPFIA2:NM_001220473:exon8:c.G764A:p.R255H,;ANNO=splicing:PPFIA2
12	82747091	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCDC59:NM_014167:exon4:c.G565A:p.E189K,;ANNO=splicing:CCDC59
12	82752003	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:CCDC59:NM_014167:exon1:c.G153A:p.E51E,;ANNO=splicing:CCDC59
12	82871131	.	G	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C12orf26:NM_032230:exon11:c.G1719C:p.Q573H,;ANNO=splicing:C12orf26
12	85515476	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRRIQ1:NM_001079910:exon16:c.G3379A:p.D1127N,;ANNO=splicing:LRRIQ1
12	85521611	.	A	G	100	PASS	AC=95;STUDIES=19;MAC=95;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LRRIQ1:NM_001079910:exon18:c.A4009G:p.M1337V,;ANNO=splicing:LRRIQ1
12	85546802	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRRIQ1:NM_001079910:exon21:c.A4420T:p.I1474F,;ANNO=splicing:LRRIQ1
12	85694933	.	A	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ALX1:NM_006982:exon4:c.A661G:p.I221V,;ANNO=splicing:ALX1
12	86377300	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MGAT4C(NM_013244:c.295+1G>A)
12	88490666	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CEP290:NM_025114:exon27:c.A3102G:p.L1034L,;ANNO=splicing:CEP290
12	88508876	.	T	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CEP290:NM_025114:exon19:c.A1908T:p.K636N,;ANNO=splicing:CEP290
12	88514945	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEP290(NM_025114:c.1189-2A>G)
12	89864139	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:POC1B:NM_172240:exon7:c.C809T:p.T270M,POC1B:NM_001199777:exon6:c.C683T:p.T228M,;ANNO=splicing:POC1B
12	89919659	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:POC1B-GALNT4:NM_001199781:exon1:c.C14A:p.T5K,POC1B:NM_172240:exon1:c.C14A:p.T5K,;ANNO=splicing:POC1B,POC1B-GALNT4
12	91366756	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EPYC:NM_004950:exon4:c.C342G:p.D114E,;ANNO=splicing:EPYC
12	91558381	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DCN(NM_001920:c.324+1G>A,NM_133506:c.324+1G>A,NM_133503:c.324+1G>A)
12	91572120	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DCN:NM_001920:exon2:c.G210A:p.L70L,DCN:NM_133505:exon1:c.G210A:p.L70L,DCN:NM_133504:exon1:c.G210A:p.L70L,DCN:NM_133503:exon2:c.G210A:p.L70L,DCN:NM_133506:exon1:c.G210A:p.L70L,DCN:NM_133507:exon1:c.G210A:p.L70L,;ANNO=splicing:DCN
12	93135267	.	A	T	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLEKHG7:NM_001004330:exon4:c.A100T:p.T34S,;ANNO=splicing:PLEKHG7
12	93195376	.	C	T	100	PASS	AC=24;STUDIES=4;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EEA1:NM_003566:exon20:c.G2772A:p.E924E,;ANNO=splicing:EEA1
12	93226288	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EEA1:NM_003566:exon11:c.A1254G:p.Q418Q,;ANNO=splicing:EEA1
12	94603366	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLXNC1:NM_005761:exon5:c.G1440A:p.R480R,;ANNO=splicing:PLXNC1
12	94648663	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLXNC1:NM_005761:exon16:c.C2982T:p.D994D,;ANNO=splicing:PLXNC1
12	96077486	.	C	T	100	PASS	AC=41;STUDIES=11;MAC=41;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NTN4:NM_021229:exon6:c.G1182A:p.P394P,;ANNO=splicing:NTN4
12	96104219	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NTN4:NM_021229:exon5:c.C1180T:p.P394S,;ANNO=splicing:NTN4
12	96273421	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC38(NM_182496:c.1142+1G>A)
12	96284610	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCDC38:NM_182496:exon9:c.G871A:p.G291R,;ANNO=splicing:CCDC38
12	96312655	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCDC38:NM_182496:exon3:c.C137T:p.T46M,;ANNO=splicing:CCDC38
12	96354401	.	G	A	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AMDHD1:NM_152435:exon5:c.G813A:p.E271E,;ANNO=splicing:AMDHD1
12	96360285	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:AMDHD1:NM_152435:exon8:c.C1192T:p.R398X,;ANNO=splicing:AMDHD1
12	96360286	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AMDHD1:NM_152435:exon8:c.G1193A:p.R398Q,;ANNO=splicing:AMDHD1
12	96374333	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HAL(NM_002108:c.1519+1G>A)
12	96377687	.	A	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HAL(NM_002108:c.1287+2T>C)
12	96384171	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HAL:NM_002108:exon10:c.C855T:p.Y285Y,;ANNO=splicing:HAL
12	96384309	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HAL:NM_002108:exon10:c.C717T:p.A239A,;ANNO=splicing:HAL
12	96388603	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HAL:NM_002108:exon4:c.A309G:p.L103L,;ANNO=splicing:HAL
12	96388605	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HAL(NM_002108:c.308-2A>G)
12	96704830	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CDK17:NM_002595:exon5:c.A543G:p.L181L,CDK17:NM_001170464:exon5:c.A543G:p.L181L,;ANNO=splicing:CDK17
12	97328755	.	C	T	100	PASS	AC=31;STUDIES=11;MAC=31;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NEDD1:NM_152905:exon7:c.C491T:p.S164F,NEDD1:NM_001135175:exon6:c.C512T:p.S171F,NEDD1:NM_001135176:exon6:c.C491T:p.S164F,NEDD1:NM_001135177:exon5:c.C224T:p.S75F,;ANNO=splicing:NEDD1
12	98992481	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC25A3:NM_002635:exon5:c.C641T:p.A214V,SLC25A3:NM_005888:exon5:c.C644T:p.A215V,SLC25A3:NM_213611:exon4:c.C641T:p.A214V,;ANNO=splicing:SLC25A3
12	99060134	.	A	G	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:APAF1:NM_013229:exon9:c.A1328G:p.Q443R,APAF1:NM_181868:exon9:c.A1361G:p.Q454R,APAF1:NM_001160:exon9:c.A1328G:p.Q443R,APAF1:NM_181861:exon9:c.A1361G:p.Q454R,;ANNO=splicing:APAF1
12	100489446	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UHRF1BP1L:NM_001006947:exon7:c.A839G:p.Q280R,UHRF1BP1L:NM_015054:exon7:c.A839G:p.Q280R,;ANNO=splicing:UHRF1BP1L
12	100598719	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACTR6:NM_022496:exon2:c.G70T:p.V24F,;ANNO=splicing:ACTR6
12	100732307	.	C	G	100	PASS	AC=79;STUDIES=5;MAC=79;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:SCYL2:NM_017988:exon18:c.C2147G:p.T716S,;ANNO=splicing:SCYL2
12	100784899	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC17A8(NM_139319:c.473+2T>C,NM_001145288:c.473+2T>C)
12	100994160	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GAS2L3:NM_174942:exon4:c.G19A:p.V7I,;ANNO=splicing:GAS2L3
12	101413917	.	T	C	100	PASS	AC=203;STUDIES=9;MAC=203;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ANO4:NM_178826:exon8:c.T735C:p.I245I,;ANNO=splicing:ANO4
12	101493497	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ANO4:NM_178826:exon21:c.G2043A:p.M681I,;ANNO=splicing:ANO4
12	101679658	.	G	A	100	PASS	AC=492;STUDIES=21;MAC=492;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UTP20:NM_014503:exon4:c.G325A:p.D109N,;ANNO=splicing:UTP20
12	101693461	.	T	A	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UTP20:NM_014503:exon13:c.T1432A:p.F478I,;ANNO=splicing:UTP20
12	101706054	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UTP20:NM_014503:exon21:c.A2552T:p.N851I,;ANNO=splicing:UTP20
12	101714630	.	T	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:UTP20:NM_014503:exon24:c.T2830C:p.L944L,;ANNO=splicing:UTP20
12	101748611	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:UTP20:NM_014503:exon41:c.C5109T:p.N1703N,;ANNO=splicing:UTP20
12	101757355	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UTP20:NM_014503:exon45:c.T5792C:p.I1931T,;ANNO=splicing:UTP20
12	101760476	.	G	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UTP20:NM_014503:exon47:c.G6266A:p.R2089Q,;ANNO=splicing:UTP20
12	101761753	.	A	G	100	PASS	AC=200;STUDIES=18;MAC=200;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:UTP20:NM_014503:exon48:c.A6383G:p.K2128R,;ANNO=splicing:UTP20
12	102025915	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MYBPC1:NM_002465:exon8:c.C555T:p.H185H,MYBPC1:NM_206820:exon6:c.C480T:p.H160H,MYBPC1:NM_206819:exon8:c.C555T:p.H185H,MYBPC1:NM_206821:exon6:c.C480T:p.H160H,;ANNO=splicing:MYBPC1
12	102110590	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CHPT1:NM_020244:exon4:c.G648A:p.T216T,;ANNO=splicing:CHPT1
12	102437991	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC53(NM_016053:c.216-1G>C)
12	102512140	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NUP37(NM_024057:c.156+1G>A)
12	102559508	.	T	C	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C12orf48:NM_017915:exon6:c.T668C:p.V223A,;ANNO=splicing:C12orf48
12	103234177	.	C	T	100	PASS	AC=13;STUDIES=7;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PAH(NM_000277:c.1315+1G>A)
12	103237557	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PAH:NM_000277:exon11:c.T1066C:p.Y356H,;ANNO=splicing:PAH
12	103246592	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PAH(NM_000277:c.842+1G>A)
12	104025472	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:STAB2(NM_017564:c.583+1G>A)
12	104031014	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STAB2:NM_017564:exon7:c.C709T:p.P237S,;ANNO=splicing:STAB2
12	104060070	.	G	A	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STAB2:NM_017564:exon19:c.G2024A:p.G675D,;ANNO=splicing:STAB2
12	104100571	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:STAB2:NM_017564:exon38:c.C3998T:p.T1333M,;ANNO=splicing:STAB2
12	104109666	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:STAB2:NM_017564:exon43:c.G4611C:p.Q1537H,;ANNO=splicing:STAB2
12	104111548	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:STAB2:NM_017564:exon44:c.G4612C:p.A1538P,;ANNO=splicing:STAB2
12	104136332	.	C	A	100	PASS	AC=17;STUDIES=8;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STAB2:NM_017564:exon56:c.C6031A:p.P2011T,;ANNO=splicing:STAB2
12	104142933	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STAB2:NM_017564:exon59:c.C6437T:p.P2146L,;ANNO=splicing:STAB2
12	104153051	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:STAB2:NM_017564:exon65:c.G7248A:p.P2416P,;ANNO=splicing:STAB2
12	104157385	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STAB2:NM_017564:exon68:c.C7604T:p.T2535M,;ANNO=splicing:STAB2
12	104157386	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:STAB2:NM_017564:exon68:c.G7605A:p.T2535T,;ANNO=splicing:STAB2
12	104350408	.	C	T	100	PASS	AC=31;STUDIES=3;MAC=31;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C12orf73(NM_001135570:c.108+1G>A)
12	104851306	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CHST11:NM_018413:exon1:c.A117T:p.P39P,;ANNO=splicing:CHST11
12	105462498	.	A	G	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ALDH1L2:NM_001034173:exon4:c.T593C:p.M198T,;ANNO=splicing:ALDH1L2
12	105583601	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:APPL2:NM_018171:exon16:c.C1408T:p.R470C,;ANNO=splicing:APPL2
12	105605008	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:APPL2:NM_018171:exon5:c.G373A:p.E125K,;ANNO=splicing:APPL2
12	106708136	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TCP11L2:NM_152772:exon3:c.C158T:p.S53L,;ANNO=splicing:TCP11L2
12	106708272	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TCP11L2(NM_152772:c.293+1G>A)
12	106729992	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TCP11L2(NM_152772:c.1142+1G>A)
12	108102704	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PWP1:NM_007062:exon12:c.C1079T:p.A360V,;ANNO=splicing:PWP1
12	108150743	.	C	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:PRDM4(NM_012406:c.11-1G>T);ANNO=splicing:PRDM4(NM_012406:c.11-1G>A)
12	108912178	.	G	A	100	PASS	AC=775;STUDIES=21;MAC=775;MAF=0.033;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FICD:NM_007076:exon3:c.G303A:p.A101A,;ANNO=splicing:FICD
12	109198832	.	G	A	100	PASS	AC=126;STUDIES=17;MAC=126;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SSH1:NM_001161331:exon9:c.C987T:p.L329L,SSH1:NM_018984:exon10:c.C954T:p.L318L,SSH1:NM_001161330:exon10:c.C954T:p.L318L,;ANNO=splicing:SSH1
12	109281339	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DAO:NM_001917:exon3:c.C308T:p.P103L,;ANNO=splicing:DAO
12	109281340	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DAO:NM_001917:exon3:c.G309A:p.P103P,;ANNO=splicing:DAO
12	109495731	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:USP30:NM_032663:exon3:c.G194A:p.G65E,;ANNO=splicing:USP30
12	109505330	.	C	A	100	PASS	AC=123;STUDIES=10;MAC=123;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:USP30:NM_032663:exon4:c.C378A:p.A126A,;ANNO=splicing:USP30
12	109613737	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ACACB:NM_001093:exon7:c.C1218A:p.G406G,;ANNO=splicing:ACACB
12	109704041	.	C	T	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ACACB:NM_001093:exon52:c.C7251T:p.G2417G,;ANNO=splicing:ACACB
12	109998846	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MMAB:NM_052845:exon7:c.C583T:p.R195C,;ANNO=splicing:MMAB
12	109998908	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MMAB:NM_052845:exon7:c.C521T:p.S174L,;ANNO=splicing:MMAB
12	110231735	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TRPV4:NM_021625:exon9:c.C1584T:p.N528N,TRPV4:NM_001177431:exon9:c.C1482T:p.N494N,TRPV4:NM_001177433:exon6:c.C1263T:p.N421N,TRPV4:NM_147204:exon7:c.C1404T:p.N468N,TRPV4:NM_001177428:exon7:c.C1443T:p.N481N,;ANNO=splicing:TRPV4
12	110252521	.	A	G	100	PASS	AC=262;STUDIES=8;MAC=262;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TRPV4:NM_021625:exon2:c.T81C:p.G27G,TRPV4:NM_001177433:exon1:c.T81C:p.G27G,TRPV4:NM_147204:exon1:c.T81C:p.G27G,TRPV4:NM_001177428:exon1:c.T81C:p.G27G,;ANNO=splicing:TRPV4(NM_001177431:c.79+2T>C)
12	110341020	.	G	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TCHP(NM_001143852:c.188+1G>T,NM_032300:c.188+1G>T)
12	110342598	.	G	A	100	PASS	AC=129;STUDIES=5;MAC=129;MAF=0.035;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TCHP:NM_001143852:exon4:c.G456A:p.E152E,TCHP:NM_032300:exon4:c.G456A:p.E152E,;ANNO=splicing:TCHP
12	110346392	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TCHP:NM_001143852:exon7:c.C701T:p.A234V,TCHP:NM_032300:exon7:c.C701T:p.A234V,;ANNO=splicing:TCHP
12	110480266	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C12orf76(NM_207435:c.299-2A>G)
12	110566754	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IFT81(NM_014055:c.248-1G>A,NM_031473:c.248-1G>A,NM_001143779:c.248-1G>A)
12	110770402	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ATP2A2:NM_170665:exon9:c.A1096G:p.M366V,ATP2A2:NM_001681:exon9:c.A1096G:p.M366V,;ANNO=splicing:ATP2A2
12	110888061	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ARPC3:NM_005719:exon1:c.C5T:p.P2L,;ANNO=splicing:ARPC3
12	110950584	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RAD9B:NM_152442:exon5:c.G389T:p.G130V,;ANNO=splicing:RAD9B
12	110969380	.	G	A	100	PASS	AC=26;STUDIES=7;MAC=26;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RAD9B:NM_152442:exon12:c.G1236A:p.V412V,;ANNO=splicing:RAD9B
12	111057762	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TCTN1(NM_001082537:c.341+1G>A,NM_001082538:c.341+1G>A,NM_024549:c.341+1G>A,NM_001173976:c.161+1G>A,NM_001173975:c.173+1G>A)
12	111342595	.	G	A	100	PASS	AC=52;STUDIES=6;MAC=52;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC63:NM_152591:exon11:c.G1546A:p.V516M,;ANNO=splicing:CCDC63
12	111345134	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC63(NM_152591:c.1546-1G>A)
12	111350901	.	T	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYL2:NM_000432:exon6:c.A401C:p.E134A,;ANNO=splicing:MYL2
12	111908545	.	T	C	100	PASS	AC=89;STUDIES=17;MAC=89;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ATXN2:NM_002973:exon19:c.A3000G:p.V1000V,;ANNO=splicing:ATXN2
12	111923670	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ATXN2(NM_002973:c.2784-1G>A)
12	111993688	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATXN2:NM_002973:exon2:c.C767T:p.T256M,;ANNO=splicing:ATXN2
12	112087743	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BRAP:NM_006768:exon11:c.A1415G:p.K472R,;ANNO=splicing:BRAP
12	112186279	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:ACAD10:NM_025247:exon17:c.G2644C:p.G882R,ACAD10:NM_001136538:exon18:c.G2737C:p.G913R,;ANNO=splicing:ACAD10
12	112187148	.	G	T	100	PASS	AC=156;STUDIES=10;MAC=156;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACAD10:NM_025247:exon18:c.G2816T:p.R939L,ACAD10:NM_001136538:exon19:c.G2909T:p.R970L,;ANNO=splicing:ACAD10
12	112187149	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:ACAD10:NM_025247:exon18:c.C2817T:p.R939R,ACAD10:NM_001136538:exon19:c.C2910T:p.R970R,;ANNO=splicing:ACAD10
12	112191718	.	A	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACAD10:NM_025247:exon19:c.A2960C:p.K987T,ACAD10:NM_001136538:exon20:c.A3053C:p.K1018T,;ANNO=splicing:ACAD10
12	112227737	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ALDH2:NM_000690:exon5:c.C551T:p.P184L,ALDH2:NM_001204889:exon4:c.C410T:p.P137L,;ANNO=splicing:ALDH2
12	112321572	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAPKAPK5:NM_139078:exon9:c.A848G:p.K283R,MAPKAPK5:NM_003668:exon9:c.A848G:p.K283R,;ANNO=splicing:MAPKAPK5
12	112607462	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C12orf51:NM_001109662:exon69:c.G11537A:p.G3846E,;ANNO=splicing:C12orf51
12	112915533	.	T	C	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:PTPN11:NM_002834:exon8:c.T932C:p.M311T,;ANNO=splicing:PTPN11
12	112924280	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PTPN11:NM_002834:exon11:c.G1226C:p.G409A,;ANNO=splicing:PTPN11
12	113303220	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RPH3A:NM_014954:exon5:c.C220T:p.R74C,RPH3A:NM_001143854:exon6:c.C232T:p.R78C,;ANNO=splicing:RPH3A
12	113357193	.	G	A	100	PASS	AC=9195;STUDIES=15;MAC=5013;MAF=0.353;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=3;ANNO=splicing:OAS1(NM_016816:c.1038-1G>A)
12	113382281	.	G	T	100	PASS	AC=17;STUDIES=10;MAC=17;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OAS3:NM_006187:exon3:c.G461T:p.G154V,;ANNO=splicing:OAS3
12	113385904	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:OAS3:NM_006187:exon5:c.G1029A:p.P343P,;ANNO=splicing:OAS3
12	113440906	.	G	A	100	PASS	AC=21;STUDIES=10;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OAS2:NM_002535:exon6:c.G1178A:p.R393Q,OAS2:NM_016817:exon6:c.G1178A:p.R393Q,;ANNO=splicing:OAS2
12	113447044	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OAS2:NM_002535:exon10:c.C2048T:p.P683L,OAS2:NM_016817:exon10:c.C2048T:p.P683L,;ANNO=splicing:OAS2
12	113447045	.	G	A	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:OAS2:NM_002535:exon10:c.G2049A:p.P683P,OAS2:NM_016817:exon10:c.G2049A:p.P683P,;ANNO=splicing:OAS2
12	113539813	.	G	A	100	PASS	AC=60;STUDIES=6;MAC=60;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RASAL1:NM_004658:exon20:c.C2103T:p.A701A,RASAL1:NM_001193520:exon20:c.C2109T:p.A703A,RASAL1:NM_001193521:exon19:c.C2019T:p.A673A,;ANNO=splicing:RASAL1
12	113543517	.	A	C	100	PASS	AC=48;STUDIES=2;MAC=48;MAF=0.066;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RASAL1(NM_001193521:c.1827+2T>G,NM_004658:c.1827+2T>G,NM_001193520:c.1833+2T>G)
12	113552606	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RASAL1:NM_004658:exon13:c.C1180T:p.R394W,RASAL1:NM_001193520:exon13:c.C1180T:p.R394W,RASAL1:NM_001193521:exon12:c.C1180T:p.R394W,;ANNO=splicing:RASAL1
12	113573203	.	A	G	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RASAL1:NM_004658:exon2:c.T65C:p.V22A,RASAL1:NM_001193520:exon2:c.T65C:p.V22A,RASAL1:NM_001193521:exon1:c.T65C:p.V22A,;ANNO=splicing:RASAL1
12	113612842	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DDX54:NM_024072:exon8:c.T873C:p.A291A,DDX54:NM_001111322:exon8:c.T873C:p.A291A,;ANNO=splicing:DDX54
12	113614897	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DDX54:NM_024072:exon6:c.A616C:p.M206L,DDX54:NM_001111322:exon6:c.A616C:p.M206L,;ANNO=splicing:DDX54
12	113659260	.	T	C	100	PASS	AC=147;STUDIES=2;MAC=147;MAF=0.109;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:TPCN1
12	113707649	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TPCN1:NM_017901:exon7:c.C747T:p.L249L,TPCN1:NM_001143819:exon8:c.C963T:p.L321L,;ANNO=splicing:TPCN1
12	113728758	.	G	A	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TPCN1:NM_017901:exon23:c.G1914A:p.V638V,TPCN1:NM_001143819:exon24:c.G2130A:p.V710V,;ANNO=splicing:TPCN1
12	113836650	.	C	T	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SDS:NM_006843:exon4:c.G195A:p.A65A,;ANNO=splicing:SDS
12	113874680	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SDSL:NM_138432:exon8:c.G796A:p.D266N,;ANNO=splicing:SDSL
12	113874681	.	G	A	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SDSL(NM_138432:c.796+1G>A)
12	113901361	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LHX5:NM_022363:exon5:c.C843T:p.D281D,;ANNO=splicing:LHX5
12	113907149	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LHX5:NM_022363:exon2:c.C175T:p.R59C,;ANNO=splicing:LHX5
12	114282474	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RBM19:NM_016196:exon23:c.C2784T:p.H928H,RBM19:NM_001146698:exon23:c.C2784T:p.H928H,RBM19:NM_001146699:exon23:c.C2784T:p.H928H,;ANNO=splicing:RBM19
12	114385269	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RBM19:NM_016196:exon11:c.G1277A:p.G426D,RBM19:NM_001146698:exon11:c.G1277A:p.G426D,RBM19:NM_001146699:exon11:c.G1277A:p.G426D,;ANNO=splicing:RBM19
12	114386639	.	A	G	100	PASS	AC=3180;STUDIES=22;MAC=3180;MAF=0.132;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RBM19:NM_016196:exon10:c.T1275C:p.Y425Y,RBM19:NM_001146698:exon10:c.T1275C:p.Y425Y,RBM19:NM_001146699:exon10:c.T1275C:p.Y425Y,;ANNO=splicing:RBM19
12	116457030	.	T	G	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MED13L:NM_015335:exon7:c.A1008C:p.L336L,;ANNO=splicing:MED13L
12	117160873	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;TRIALLELIC;ANNO=synonymous:C12orf49:NM_024738:exon2:c.C267T:p.L89L,;ANNO=synonymous:C12orf49:NM_024738:exon2:c.C267A:p.L89L,;ANNO=splicing:C12orf49;ANNO=splicing:C12orf49
12	117160873	.	G	T	100	PASS	AC=136;STUDIES=10;MAC=136;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:C12orf49:NM_024738:exon2:c.C267T:p.L89L,;ANNO=synonymous:C12orf49:NM_024738:exon2:c.C267A:p.L89L,;ANNO=splicing:C12orf49;ANNO=splicing:C12orf49
12	117188111	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RNFT2:NM_032814:exon4:c.C549T:p.L183L,RNFT2:NM_001109903:exon4:c.C549T:p.L183L,;ANNO=splicing:RNFT2
12	117461953	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FBXW8:NM_153348:exon9:c.G1369A:p.V457M,FBXW8:NM_012174:exon9:c.G1171A:p.V391M,;ANNO=splicing:FBXW8
12	117462124	.	G	A	100	PASS	AC=34;STUDIES=11;MAC=34;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FBXW8:NM_153348:exon9:c.G1540A:p.G514R,FBXW8:NM_012174:exon9:c.G1342A:p.G448R,;ANNO=splicing:FBXW8
12	117604881	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FBXO21:NM_015002:exon8:c.G1015A:p.A339T,FBXO21:NM_033624:exon8:c.G1015A:p.A339T,;ANNO=splicing:FBXO21
12	117672371	.	T	C	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NOS1:NM_000620:exon21:c.A3234G:p.L1078L,NOS1:NM_001204218:exon22:c.A3336G:p.L1112L,NOS1:NM_001204213:exon20:c.A2226G:p.L742L,NOS1:NM_001204214:exon20:c.A2226G:p.L742L,;ANNO=splicing:NOS1
12	117681239	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NOS1:NM_000620:exon19:c.C2825A:p.A942E,NOS1:NM_001204218:exon20:c.C2927A:p.A976E,NOS1:NM_001204213:exon18:c.C1817A:p.A606E,NOS1:NM_001204214:exon18:c.C1817A:p.A606E,;ANNO=splicing:NOS1
12	117908997	.	G	A	100	PASS	AC=25;STUDIES=7;MAC=25;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KSR2:NM_173598:exon18:c.C2624T:p.S875L,;ANNO=splicing:KSR2
12	118519933	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:VSIG10:NM_019086:exon3:c.C663A:p.Y221X,;ANNO=splicing:VSIG10
12	118577358	.	T	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:PEBP1(NM_002567:c.346+2T>G)
12	119866488	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC60:NM_178499:exon2:c.G91A:p.V31I,;ANNO=splicing:CCDC60
12	119916900	.	A	G	100	PASS	AC=3180;STUDIES=21;MAC=3180;MAF=0.135;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC60:NM_178499:exon4:c.A343G:p.T115A,;ANNO=splicing:CCDC60
12	119961623	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC60:NM_178499:exon11:c.A1229G:p.K410R,;ANNO=splicing:CCDC60
12	120114475	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PRKAB1:NM_006253:exon5:c.C666T:p.S222S,;ANNO=splicing:PRKAB1
12	120152003	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CIT:NM_007174:exon32:c.C4179T:p.L1393L,CIT:NM_001206999:exon33:c.C4305T:p.L1435L,;ANNO=splicing:CIT
12	120213591	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CIT:NM_007174:exon16:c.A1940G:p.K647R,CIT:NM_001206999:exon16:c.A1940G:p.K647R,;ANNO=splicing:CIT
12	120569136	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GCN1L1:NM_006836:exon55:c.G7416A:p.A2472A,;ANNO=splicing:GCN1L1
12	120593045	.	G	A	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GCN1L1:NM_006836:exon30:c.C3630T:p.Y1210Y,;ANNO=splicing:GCN1L1
12	120600774	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GCN1L1:NM_006836:exon20:c.T2040C:p.V680V,;ANNO=splicing:GCN1L1
12	120613944	.	A	C	100	PASS	AC=16;STUDIES=2;MAC=16;MAF=0.035;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GCN1L1(NM_006836:c.913+2T>G)
12	120661636	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PXN:NM_002859:exon3:c.C241T:p.P81S,PXN:NM_001080855:exon3:c.C241T:p.P81S,;ANNO=splicing:PXN
12	120662179	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PXN:NM_002859:exon2:c.C15T:p.D5D,PXN:NM_001080855:exon2:c.C15T:p.D5D,;ANNO=splicing:PXN
12	120765522	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLA2G1B(NM_000928:c.34+1G>A)
12	121001149	.	G	C	100	PASS	AC=17;STUDIES=7;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RNF10(NM_014868:c.1254-1G>C)
12	121088486	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CABP1(NM_031205:c.45+1G>A,NM_004276:c.45+1G>A)
12	121131895	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=synonymous:MLEC:NM_014730:exon2:c.C237T:p.A79A,;ANNO=splicing:MLEC
12	121139667	.	G	C	100	PASS	AC=163;STUDIES=2;MAC=163;MAF=0.087;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:MLEC
12	121164829	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ACADS:NM_000017:exon2:c.C47T:p.A16V,;ANNO=splicing:ACADS
12	121174938	.	C	T	100	PASS	AC=498;STUDIES=18;MAC=498;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ACADS:NM_000017:exon3:c.C360T:p.N120N,;ANNO=splicing:ACADS
12	121176083	.	G	A	100	PASS	AC=5656;STUDIES=22;MAC=5656;MAF=0.233;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ACADS:NM_000017:exon6:c.G625A:p.G209S,;ANNO=splicing:ACADS
12	121206290	.	A	C	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPPL3:NM_139015:exon8:c.T611G:p.F204C,;ANNO=splicing:SPPL3
12	121570899	.	G	T	100	PASS	AC=137;STUDIES=15;MAC=137;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:P2RX7(NM_002562:c.125+1G>T)
12	121603240	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:P2RX7:NM_002562:exon6:c.C614T:p.T205M,;ANNO=splicing:P2RX7
12	121615248	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:P2RX7:NM_002562:exon11:c.C1187T:p.P396L,;ANNO=splicing:P2RX7
12	121618257	.	C	G	100	PASS	AC=620;STUDIES=16;MAC=620;MAF=0.032;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:P2RX7:NM_002562:exon12:c.C1289G:p.P430R,;ANNO=splicing:P2RX7
12	121682943	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CAMKK2:NM_172215:exon14:c.C1424T:p.T475I,CAMKK2:NM_153500:exon14:c.C1424T:p.T475M,CAMKK2:NM_172226:exon15:c.C1553T:p.T518M,CAMKK2:NM_172214:exon15:c.C1553T:p.T518I,CAMKK2:NM_153499:exon15:c.C1553T:p.T518M,CAMKK2:NM_006549:exon15:c.C1553T:p.T518I,CAMKK2:NM_172216:exon14:c.C1424T:p.T475I,;ANNO=splicing:CAMKK2
12	121693606	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CAMKK2:NM_172215:exon8:c.G798A:p.V266V,CAMKK2:NM_153500:exon8:c.G798A:p.V266V,CAMKK2:NM_172226:exon8:c.G798A:p.V266V,CAMKK2:NM_172214:exon8:c.G798A:p.V266V,CAMKK2:NM_153499:exon8:c.G798A:p.V266V,CAMKK2:NM_006549:exon8:c.G798A:p.V266V,CAMKK2:NM_172216:exon8:c.G798A:p.V266V,;ANNO=splicing:CAMKK2
12	121878779	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KDM2B:NM_032590:exon21:c.G3450C:p.G1150G,KDM2B:NM_001005366:exon20:c.G3243C:p.G1081G,;ANNO=splicing:KDM2B
12	122092181	.	C	T	100	PASS	AC=1392;STUDIES=20;MAC=1392;MAF=0.066;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MORN3:NM_173855:exon3:c.G462A:p.L154L,;ANNO=splicing:MORN3
12	122107246	.	G	A	100	PASS	AC=20;STUDIES=8;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MORN3:NM_173855:exon1:c.C144T:p.H48H,;ANNO=splicing:MORN3
12	122190035	.	T	G	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM120B:NM_001080825:exon5:c.T367G:p.F123V,;ANNO=splicing:TMEM120B
12	122219097	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RHOF:NM_019034:exon3:c.G228A:p.G76G,;ANNO=splicing:RHOF
12	122292609	.	C	T	100	PASS	AC=107;STUDIES=11;MAC=107;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HPD:NM_002150:exon7:c.G414A:p.T138T,HPD:NM_001171993:exon9:c.G297A:p.T99T,;ANNO=splicing:HPD
12	122386966	.	G	T	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WDR66:NM_001178003:exon8:c.G1268T:p.W423L,WDR66:NM_144668:exon8:c.G1268T:p.W423L,;ANNO=splicing:WDR66
12	122389385	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR66(NM_001178003:c.1269-1G>C,NM_144668:c.1269-1G>C)
12	122405912	.	G	T	100	PASS	AC=6642;STUDIES=22;MAC=6642;MAF=0.274;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDR66:NM_001178003:exon17:c.G2608T:p.V870L,WDR66:NM_144668:exon17:c.G2608T:p.V870L,;ANNO=splicing:WDR66
12	122437849	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:WDR66:NM_144668:exon20:c.A3234C:p.K1078N,;ANNO=splicing:WDR66
12	122468687	.	C	T	100	PASS	AC=927;STUDIES=22;MAC=927;MAF=0.038;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BCL7A:NM_020993:exon2:c.C174T:p.D58D,BCL7A:NM_001024808:exon2:c.C174T:p.D58D,;ANNO=splicing:BCL7A
12	122481793	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BCL7A:NM_020993:exon4:c.C273T:p.D91D,BCL7A:NM_001024808:exon4:c.C273T:p.D91D,;ANNO=splicing:BCL7A
12	122658746	.	G	A	100	PASS	AC=15;STUDIES=4;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:IL31
12	122825299	.	C	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLIP1(NM_002956:c.2418+1G>T,NM_198240:c.2313+1G>T)
12	122962754	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZCCHC8:NM_017612:exon12:c.G1226T:p.R409I,;ANNO=splicing:ZCCHC8
12	123062219	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:KNTC1:NM_014708:exon31:c.G2722A:p.G908S,;ANNO=splicing:KNTC1
12	123067531	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KNTC1:NM_014708:exon34:c.A3262G:p.S1088G,;ANNO=splicing:KNTC1
12	123110752	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KNTC1:NM_014708:exon64:c.A6607G:p.M2203V,;ANNO=splicing:KNTC1
12	123355608	.	T	C	100	PASS	AC=14;STUDIES=6;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VPS37B:NM_024667:exon2:c.A112G:p.T38A,;ANNO=splicing:VPS37B
12	123461516	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:OGFOD2:NM_024623:exon5:c.G222A:p.S74S,;ANNO=splicing:OGFOD2
12	123485395	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PITPNM2:NM_020845:exon9:c.A1154T:p.D385V,;ANNO=splicing:PITPNM2
12	123489036	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PITPNM2:NM_020845:exon7:c.C953T:p.A318V,;ANNO=splicing:PITPNM2
12	123494398	.	G	A	100	PASS	AC=12;STUDIES=9;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PITPNM2:NM_020845:exon5:c.C642T:p.T214T,;ANNO=splicing:PITPNM2
12	123703045	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MPHOSPH9:NM_022782:exon2:c.A418G:p.N140D,;ANNO=splicing:MPHOSPH9
12	123825635	.	G	A	100	PASS	AC=84;STUDIES=8;MAC=84;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SBNO1:NM_018183:exon4:c.C548T:p.T183I,SBNO1:NM_001167856:exon4:c.C551T:p.T184I,;ANNO=splicing:SBNO1
12	123921264	.	G	T	100	PASS	AC=575;STUDIES=2;MAC=575;MAF=0.296;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=splicing:RILPL2
12	124090527	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DDX55:NM_020936:exon2:c.C158T:p.A53V,;ANNO=splicing:DDX55
12	124094674	.	T	C	100	PASS	AC=27;STUDIES=10;MAC=27;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DDX55:NM_020936:exon7:c.T740C:p.M247T,;ANNO=splicing:DDX55
12	124102305	.	T	A	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DDX55:NM_020936:exon11:c.T1050A:p.S350R,;ANNO=splicing:DDX55
12	124114943	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EIF2B1(NM_001414:c.252+1G>A)
12	124114944	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EIF2B1:NM_001414:exon3:c.C252T:p.S84S,;ANNO=splicing:EIF2B1
12	124229429	.	T	C	100	PASS	AC=15544;STUDIES=21;MAC=6964;MAF=0.309;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:ATP6V0A2:NM_012463:exon13:c.T1515C:p.N505N,;ANNO=splicing:ATP6V0A2
12	124235775	.	G	A	100	PASS	AC=95;STUDIES=9;MAC=95;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATP6V0A2:NM_012463:exon16:c.G2054A:p.R685Q,;ANNO=splicing:ATP6V0A2
12	124256247	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNAH10(NM_207437:c.213+2T>G)
12	124268493	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNAH10(NM_207437:c.816-1G>A)
12	124268494	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAH10:NM_207437:exon8:c.G817A:p.G273S,;ANNO=splicing:DNAH10
12	124274474	.	A	G	100	PASS	AC=16330;STUDIES=21;MAC=6178;MAF=0.274;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:DNAH10:NM_207437:exon11:c.A1438G:p.I480V,;ANNO=splicing:DNAH10
12	124330148	.	G	A	100	PASS	AC=14;STUDIES=2;MAC=14;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAH10:NM_207437:exon30:c.G5008A:p.V1670I,;ANNO=splicing:DNAH10
12	124332641	.	G	A	100	PASS	AC=510;STUDIES=11;MAC=510;MAF=0.033;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAH10:NM_207437:exon32:c.G5594A:p.R1865K,;ANNO=splicing:DNAH10
12	124343814	.	A	G	100	PASS	AC=18;STUDIES=8;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAH10:NM_207437:exon37:c.A6394G:p.K2132E,;ANNO=splicing:DNAH10
12	124360037	.	C	T	100	PASS	AC=252;STUDIES=19;MAC=252;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:DNAH10:NM_207437:exon46:c.C7844T:p.S2615L,;ANNO=splicing:DNAH10
12	124387487	.	C	T	100	PASS	AC=17;STUDIES=8;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DNAH10:NM_207437:exon56:c.C9288T:p.A3096A,;ANNO=splicing:DNAH10
12	124402360	.	G	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DNAH10:NM_207437:exon63:c.G10878A:p.E3626E,;ANNO=splicing:DNAH10
12	124817824	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NCOR2:NM_006312:exon44:c.T6607A:p.S2203T,NCOR2:NM_001077261:exon43:c.T6577A:p.S2193T,NCOR2:NM_001206654:exon43:c.T6577A:p.S2193T,;ANNO=splicing:NCOR2
12	124826619	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NCOR2:NM_006312:exon36:c.C4938T:p.A1646A,NCOR2:NM_001077261:exon35:c.C4908T:p.A1636A,NCOR2:NM_001206654:exon35:c.C4908T:p.A1636A,;ANNO=splicing:NCOR2
12	124848225	.	G	A	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NCOR2:NM_006312:exon23:c.C2928T:p.I976I,NCOR2:NM_001077261:exon22:c.C2874T:p.I958I,NCOR2:NM_001206654:exon22:c.C2874T:p.I958I,;ANNO=splicing:NCOR2
12	124856569	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NCOR2:NM_006312:exon22:c.C2806T:p.R936W,NCOR2:NM_001077261:exon21:c.C2752T:p.R918W,NCOR2:NM_001206654:exon21:c.C2752T:p.R918W,;ANNO=splicing:NCOR2
12	124979693	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NCOR2:NM_006312:exon3:c.G105A:p.T35T,NCOR2:NM_001077261:exon3:c.G105A:p.T35T,NCOR2:NM_001206654:exon3:c.G105A:p.T35T,;ANNO=splicing:NCOR2
12	125284671	.	G	A	100	PASS	AC=19;STUDIES=9;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SCARB1:NM_005505:exon8:c.C1127T:p.P376L,SCARB1:NM_001082959:exon8:c.C1127T:p.P376L,;ANNO=splicing:SCARB1
12	125398319	.	G	A	100	PASS	AC=333;STUDIES=12;MAC=333;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:UBC
12	125453414	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DHX37:NM_032656:exon9:c.A1292G:p.K431R,;ANNO=splicing:DHX37
12	125609569	.	A	C	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AACS:NM_023928:exon12:c.A1308C:p.S436S,;ANNO=splicing:AACS
12	130827214	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PIWIL1:NM_004764:exon2:c.C78T:p.A26A,PIWIL1:NM_001190971:exon2:c.C78T:p.A26A,;ANNO=splicing:PIWIL1
12	130840211	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PIWIL1:NM_004764:exon12:c.C1403T:p.T468I,PIWIL1:NM_001190971:exon12:c.C1403T:p.T468I,;ANNO=splicing:PIWIL1
12	130846146	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PIWIL1:NM_004764:exon16:c.G1970A:p.R657H,PIWIL1:NM_001190971:exon16:c.G1970A:p.R657H,;ANNO=splicing:PIWIL1
12	130898850	.	G	A	100	PASS	AC=48;STUDIES=8;MAC=48;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RIMBP2:NM_015347:exon14:c.C2472T:p.D824D,;ANNO=splicing:RIMBP2
12	131357464	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:RAN:NM_006325:exon3:c.A120G:p.V40V,;ANNO=splicing:RAN
12	131359092	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:RAN:NM_006325:exon5:c.C249G:p.A83A,;ANNO=splicing:RAN
12	131593270	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GPR133:NM_198827:exon18:c.C1889T:p.T630I,;ANNO=splicing:GPR133
12	132283582	.	G	T	100	PASS	AC=246;STUDIES=19;MAC=246;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SFSWAP:NM_004592:exon17:c.G2718T:p.R906S,;ANNO=splicing:SFSWAP
12	132394378	.	C	T	100	PASS	AC=37;STUDIES=11;MAC=37;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ULK1:NM_003565:exon9:c.C725T:p.T242I,;ANNO=splicing:ULK1
12	132401606	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ULK1:NM_003565:exon21:c.C2181T:p.I727I,;ANNO=splicing:ULK1
12	132624314	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;EXON_FORWARD;SNP_ON_LEFT;SNP_ON_RIGHT;DESIGN_FAILED;ANNO=nonsynonymous:DDX51:NM_175066:exon14:c.G1840A:p.E614K,;ANNO=splicing:DDX51
12	132626395	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DDX51:NM_175066:exon6:c.C995T:p.T332I,;ANNO=splicing:DDX51
12	132633439	.	C	T	100	PASS	AC=288;STUDIES=7;MAC=288;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:NOC4L:NM_024078:exon9:c.C900T:p.L300L,;ANNO=splicing:NOC4L
12	132688050	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GALNT9:NM_001122636:exon7:c.G1263A:p.S421S,GALNT9:NM_021808:exon3:c.G165A:p.S55S,;ANNO=splicing:GALNT9
12	132863015	.	G	C	100	PASS	AC=59;STUDIES=5;MAC=59;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GALNT9:NM_001122636:exon2:c.C240G:p.G80G,;ANNO=splicing:GALNT9
12	133196338	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:P2RX2(NM_170682:c.381+2T>C,NM_174873:c.381+2T>C,NM_170683:c.381+2T>C)
12	133209380	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:POLE:NM_006231:exon44:c.G6006A:p.A2002A,;ANNO=splicing:POLE
12	133219314	.	T	G	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:POLE:NM_006231:exon37:c.A4730C:p.E1577A,;ANNO=splicing:POLE
12	133252406	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:POLE:NM_006231:exon11:c.G1021T:p.A341S,;ANNO=splicing:POLE
12	133272470	.	G	T	100	PASS	AC=2103;STUDIES=22;MAC=2103;MAF=0.087;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PXMP2:NM_018663:exon3:c.G237T:p.G79G,;ANNO=splicing:PXMP2
12	133277835	.	G	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PXMP2(NM_018663:c.399-1G>A)
12	133353341	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GOLGA3:NM_005895:exon21:c.T3857C:p.M1286T,;ANNO=splicing:GOLGA3
12	133363374	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:GOLGA3(NM_005895:c.2811-1G>A,NM_001172557:c.2811-1G>A)
12	133373125	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GOLGA3:NM_001172557:exon10:c.G2100A:p.Q700Q,GOLGA3:NM_005895:exon10:c.G2100A:p.Q700Q,;ANNO=splicing:GOLGA3
12	133428319	.	G	A	100	PASS	AC=16;STUDIES=9;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CHFR:NM_018223:exon12:c.C1290T:p.V430V,CHFR:NM_001161344:exon12:c.C1413T:p.V471V,CHFR:NM_001161347:exon10:c.C1137T:p.V379V,CHFR:NM_001161346:exon12:c.C1377T:p.V459V,CHFR:NM_001161345:exon12:c.C1410T:p.V470V,;ANNO=splicing:CHFR
13	20004608	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TPTE2:NM_001141968:exon16:c.G969A:p.S323S,TPTE2:NM_199254:exon18:c.G1302A:p.S434S,TPTE2:NM_130785:exon15:c.G1071A:p.S357S,;ANNO=splicing:TPTE2
13	20004609	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:TPTE2:NM_001141968:exon16:c.C968T:p.S323L,TPTE2:NM_199254:exon18:c.C1301T:p.S434L,TPTE2:NM_130785:exon15:c.C1070T:p.S357L,;ANNO=nonsynonymous:TPTE2:NM_001141968:exon16:c.C968G:p.S323W,TPTE2:NM_199254:exon18:c.C1301G:p.S434W,TPTE2:NM_130785:exon15:c.C1070G:p.S357W,;ANNO=splicing:TPTE2;ANNO=splicing:TPTE2
13	20004609	.	G	C	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:TPTE2:NM_001141968:exon16:c.C968T:p.S323L,TPTE2:NM_199254:exon18:c.C1301T:p.S434L,TPTE2:NM_130785:exon15:c.C1070T:p.S357L,;ANNO=nonsynonymous:TPTE2:NM_001141968:exon16:c.C968G:p.S323W,TPTE2:NM_199254:exon18:c.C1301G:p.S434W,TPTE2:NM_130785:exon15:c.C1070G:p.S357W,;ANNO=splicing:TPTE2;ANNO=splicing:TPTE2
13	20025305	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:TPTE2:NM_001141968:exon10:c.A469G:p.S157G,TPTE2:NM_199254:exon12:c.A802G:p.S268G,TPTE2:NM_130785:exon9:c.A571G:p.S191G,;ANNO=splicing:TPTE2
13	20039703	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:TPTE2:NM_001141968:exon7:c.T181C:p.W61R,TPTE2:NM_199254:exon9:c.T514C:p.W172R,TPTE2:NM_130785:exon6:c.T283C:p.W95R,;ANNO=splicing:TPTE2
13	20056686	.	T	C	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:TPTE2:NM_001141968:exon6:c.A121G:p.M41V,TPTE2:NM_199254:exon5:c.A121G:p.M41V,;ANNO=splicing:TPTE2
13	20066989	.	C	T	100	PASS	AC=22;STUDIES=12;MAC=22;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;SNP_ON_RIGHT;ANNO=splicing:TPTE2(NM_001141968:c.119+1G>A,NM_199254:c.119+1G>A,NM_130785:c.119+1G>A)
13	20240719	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MPHOSPH8:NM_017520:exon10:c.C2174T:p.T725I,;ANNO=splicing:MPHOSPH8
13	20425587	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:ZMYM5:NM_001039650:exon4:c.C494A:p.T165N,ZMYM5:NM_001039649:exon4:c.C494A:p.T165N,ZMYM5:NM_001142684:exon4:c.C494A:p.T165N,;ANNO=splicing:ZMYM5
13	20626451	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZMYM2:NM_197968:exon14:c.A2493G:p.T831T,ZMYM2:NM_001190965:exon14:c.A2493G:p.T831T,ZMYM2:NM_001190964:exon15:c.A2493G:p.T831T,ZMYM2:NM_003453:exon15:c.A2493G:p.T831T,;ANNO=splicing:ZMYM2
13	21006241	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CRYL1:NM_015974:exon5:c.G633A:p.E211E,;ANNO=splicing:CRYL1
13	21176071	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IFT88:NM_175605:exon14:c.G1067A:p.S356N,IFT88:NM_006531:exon12:c.G1040A:p.S347N,;ANNO=splicing:IFT88
13	21383364	.	T	C	100	PASS	AC=28;STUDIES=3;MAC=28;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:XPO4:NM_022459:exon11:c.A1351G:p.T451A,;ANNO=splicing:XPO4
13	21714654	.	A	G	100	PASS	AC=14;STUDIES=2;MAC=14;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:SAP18
13	21732060	.	C	G	100	PASS	AC=484;STUDIES=7;MAC=484;MAF=0.063;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SKA3(NM_145061:c.1119+1G>C,NM_001166017:c.1119+1G>C)
13	21735928	.	C	T	100	PASS	AC=18;STUDIES=2;MAC=18;MAF=0.038;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SKA3(NM_145061:c.829+1G>A,NM_001166017:c.829+1G>A)
13	21751052	.	C	T	100	PASS	AC=106;STUDIES=10;MAC=106;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:MRP63
13	21975824	.	T	C	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZDHHC20:NM_153251:exon6:c.A441G:p.S147S,;ANNO=splicing:ZDHHC20
13	22069456	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:EFHA1:NM_152726:exon11:c.G1044A:p.A348A,;ANNO=splicing:EFHA1
13	23778029	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SGCG(NM_000231:c.195+1G>C)
13	23869555	.	G	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SGCG:NM_000231:exon6:c.G507T:p.G169G,;ANNO=splicing:SGCG
13	24234628	.	C	T	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TNFRSF19:NM_001204458:exon7:c.C735T:p.C245C,TNFRSF19:NM_148957:exon7:c.C735T:p.C245C,TNFRSF19:NM_018647:exon7:c.C735T:p.C245C,TNFRSF19:NM_001204459:exon5:c.C339T:p.C113C,;ANNO=splicing:TNFRSF19
13	24304584	.	C	T	100	PASS	AC=16;STUDIES=11;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MIPEP:NM_005932:exon19:c.G2045A:p.G682D,;ANNO=splicing:MIPEP
13	24436441	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MIPEP:NM_005932:exon9:c.C1053T:p.S351S,;ANNO=splicing:MIPEP
13	24865021	.	G	A	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPATA13:NM_001166271:exon9:c.G3079A:p.G1027S,SPATA13:NM_153023:exon8:c.G1204A:p.G402S,;ANNO=splicing:SPATA13
13	24895134	.	G	C	100	PASS	AC=55;STUDIES=6;MAC=55;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:C1QTNF9:NM_178540:exon4:c.G230C:p.G77A,;ANNO=splicing:C1QTNF9
13	25009613	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PARP4(NM_006437:c.3666-1G>A)
13	25016729	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:PARP4:NM_006437:exon29:c.G3542A:p.R1181K,;ANNO=splicing:PARP4
13	25021152	.	A	G	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;SNP_ON_RIGHT;ANNO=splicing:PARP4(NM_006437:c.3285+2T>C)
13	25021154	.	C	T	100	PASS	AC=9258;STUDIES=19;MAC=9258;MAF=0.487;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:PARP4:NM_006437:exon26:c.G3285A:p.Q1095Q,;ANNO=splicing:PARP4
13	25021323	.	A	G	100	PASS	AC=222;STUDIES=3;MAC=222;MAF=0.094;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=20;ANNO=nonsynonymous:PARP4:NM_006437:exon26:c.T3116C:p.I1039T,;ANNO=splicing:PARP4
13	25030615	.	C	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:PARP4:NM_006437:exon21:c.G2426T:p.R809L,;ANNO=nonsynonymous:PARP4:NM_006437:exon21:c.G2426A:p.R809H,;ANNO=splicing:PARP4;ANNO=splicing:PARP4
13	25030615	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:PARP4:NM_006437:exon21:c.G2426T:p.R809L,;ANNO=nonsynonymous:PARP4:NM_006437:exon21:c.G2426A:p.R809H,;ANNO=splicing:PARP4;ANNO=splicing:PARP4
13	25043163	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:PARP4:NM_006437:exon17:c.C2132T:p.P711L,;ANNO=splicing:PARP4
13	25044032	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PARP4:NM_006437:exon16:c.G2046T:p.E682D,;ANNO=splicing:PARP4
13	25060445	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PARP4(NM_006437:c.1214-2A>G)
13	25262660	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ATP12A:NM_001185085:exon4:c.C432T:p.N144N,ATP12A:NM_001676:exon4:c.C432T:p.N144N,;ANNO=splicing:ATP12A
13	25264609	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATP12A:NM_001185085:exon6:c.G680A:p.R227Q,ATP12A:NM_001676:exon6:c.G680A:p.R227Q,;ANNO=splicing:ATP12A
13	25265103	.	A	G	100	PASS	AC=2549;STUDIES=12;MAC=2549;MAF=0.249;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:ATP12A:NM_001185085:exon8:c.A801G:p.A267A,;ANNO=splicing:ATP12A
13	25266926	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATP12A:NM_001185085:exon10:c.C1287G:p.N429K,ATP12A:NM_001676:exon10:c.C1269G:p.N423K,;ANNO=splicing:ATP12A
13	25272795	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ATP12A(NM_001185085:c.1530-1G>A,NM_001676:c.1512-1G>A)
13	25272796	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATP12A:NM_001185085:exon12:c.C1531T:p.L511F,ATP12A:NM_001676:exon12:c.C1513T:p.L505F,;ANNO=splicing:ATP12A
13	25424583	.	T	C	100	PASS	AC=125;STUDIES=11;MAC=125;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RNF17(NM_031277:c.3204+2T>C)
13	25440340	.	A	G	100	PASS	AC=25;STUDIES=4;MAC=25;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RNF17:NM_001184993:exon30:c.A4148G:p.E1383G,RNF17:NM_031277:exon30:c.A4160G:p.E1387G,;ANNO=splicing:RNF17
13	25466781	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CENPJ:NM_018451:exon10:c.G3216A:p.A1072A,;ANNO=splicing:CENPJ
13	25889495	.	G	A	100	PASS	AC=98;STUDIES=17;MAC=98;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NUPL1:NM_014089:exon6:c.G575A:p.G192E,NUPL1:NM_001008564:exon5:c.G539A:p.G180E,;ANNO=splicing:NUPL1
13	25893488	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NUPL1:NM_014089:exon7:c.A710G:p.E237G,NUPL1:NM_001008564:exon6:c.A674G:p.E225G,;ANNO=splicing:NUPL1
13	26043115	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ATP8A2:NM_016529:exon2:c.G77A:p.G26E,;ANNO=splicing:ATP8A2
13	26434998	.	A	G	100	PASS	AC=69;STUDIES=12;MAC=69;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ATP8A2:NM_016529:exon32:c.A3075G:p.K1025K,;ANNO=splicing:ATP8A2
13	26535801	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATP8A2:NM_016529:exon34:c.C3272T:p.A1091V,;ANNO=splicing:ATP8A2
13	28008942	.	A	G	100	PASS	AC=45;STUDIES=10;MAC=45;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GTF3A:NM_002097:exon7:c.A644G:p.E215G,;ANNO=splicing:GTF3A
13	28134121	.	G	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LNX2:NM_153371:exon6:c.C1226G:p.A409G,;ANNO=splicing:LNX2
13	29041266	.	C	G	100	PASS	AC=51;STUDIES=10;MAC=51;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FLT1:NM_002019:exon3:c.G162C:p.R54S,FLT1:NM_001160031:exon3:c.G162C:p.R54S,FLT1:NM_001159920:exon3:c.G162C:p.R54S,FLT1:NM_001160030:exon3:c.G162C:p.R54S,;ANNO=splicing:FLT1
13	30107118	.	A	C	100	PASS	AC=91;STUDIES=3;MAC=91;MAF=0.161;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:SLC7A1:NM_003045:exon4:c.T372G:p.G124G,;ANNO=splicing:SLC7A1
13	31037831	.	T	C	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=splicing:HMGB1
13	31513915	.	G	A	100	PASS	AC=43;STUDIES=6;MAC=43;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C13orf26:NM_152325:exon2:c.G146A:p.R49H,;ANNO=splicing:C13orf26
13	31531009	.	G	A	100	PASS	AC=6638;STUDIES=18;MAC=6638;MAF=0.316;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C13orf26(NM_152325:c.312-1G>A)
13	31719700	.	A	C	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HSPH1:NM_006644:exon11:c.T1584G:p.D528E,;ANNO=splicing:HSPH1
13	31722228	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HSPH1:NM_006644:exon10:c.G1246A:p.V416I,;ANNO=splicing:HSPH1
13	31789187	.	G	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:B3GALTL(NM_194318:c.70-1G>T)
13	31821992	.	T	C	100	PASS	AC=23716;STUDIES=22;MAC=588;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:B3GALTL:NM_194318:exon6:c.T348C:p.H116H,;ANNO=splicing:B3GALTL
13	31843415	.	G	A	100	PASS	AC=12;STUDIES=8;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:B3GALTL(NM_194318:c.660+1G>A)
13	32340164	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RXFP2:NM_001166058:exon5:c.T497C:p.I166T,RXFP2:NM_130806:exon5:c.T497C:p.I166T,;ANNO=splicing:RXFP2
13	32606002	.	A	C	100	PASS	AC=17;STUDIES=10;MAC=17;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FRY:NM_023037:exon1:c.A70C:p.T24P,;ANNO=splicing:FRY
13	32783868	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FRY:NM_023037:exon33:c.T4422C:p.Y1474Y,;ANNO=splicing:FRY
13	32869339	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FRY:NM_023037:exon61:c.A8784G:p.R2928R,;ANNO=splicing:FRY
13	32910403	.	T	C	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BRCA2:NM_000059:exon11:c.T1911C:p.G637G,;ANNO=splicing:BRCA2
13	32930745	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BRCA2:NM_000059:exon15:c.A7616G:p.Q2539R,;ANNO=splicing:BRCA2
13	33320238	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PDS5B:NM_015032:exon24:c.C2736T:p.N912N,;ANNO=splicing:PDS5B
13	33344259	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDS5B:NM_015032:exon32:c.T3625A:p.S1209T,;ANNO=splicing:PDS5B
13	36124614	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NBEA:NM_015678:exon42:c.G6586A:p.V2196I,;ANNO=splicing:NBEA
13	36379836	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DCLK1:NM_001195416:exon11:c.T1023C:p.N341N,DCLK1:NM_001195415:exon11:c.T1023C:p.N341N,DCLK1:NM_004734:exon15:c.T1944C:p.N648N,;ANNO=splicing:DCLK1
13	36748614	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SOHLH2:NM_017826:exon8:c.C880T:p.R294W,C13orf38-SOHLH2:NM_001198910:exon13:c.C1111T:p.R371W,;ANNO=splicing:C13orf38-SOHLH2,SOHLH2
13	36822743	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C13orf38:NM_001144981:exon7:c.C545T:p.T182I,C13orf38:NM_001144986:exon6:c.C239T:p.T80I,C13orf38:NM_001144982:exon6:c.C239T:p.T80I,C13orf38:NM_001144984:exon5:c.C245T:p.T82I,C13orf38:NM_001198908:exon7:c.C545T:p.T182I,C13orf38:NM_001144983:exon6:c.C239T:p.T80I,C13orf38-SOHLH2:NM_001198910:exon5:c.C245T:p.T82I,C13orf38:NM_001144985:exon6:c.C239T:p.T80I,;ANNO=splicing:C13orf38,C13orf38-SOHLH2
13	37013004	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCNA1:NM_001111047:exon5:c.C761T:p.S254L,CCNA1:NM_001111046:exon5:c.C761T:p.S254L,CCNA1:NM_003914:exon5:c.C893T:p.S298L,CCNA1:NM_001111045:exon5:c.C890T:p.S297L,;ANNO=splicing:CCNA1
13	37269043	.	T	A	100	PASS	AC=20;STUDIES=2;MAC=20;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:C13orf36
13	37539711	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ALG5(NM_001142364:c.683+1G>C,NM_013338:c.773+1G>C)
13	38145505	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:POSTN(NM_001135935:c.2098+1G>T,NM_006475:c.2179+1G>T)
13	38151891	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:POSTN:NM_001135934:exon16:c.T2007C:p.Y669Y,POSTN:NM_006475:exon16:c.T2007C:p.Y669Y,POSTN:NM_001135935:exon16:c.T2007C:p.Y669Y,POSTN:NM_001135936:exon16:c.T2007C:p.Y669Y,;ANNO=splicing:POSTN
13	40233502	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COG6:NM_001145079:exon2:c.A155G:p.E52G,COG6:NM_020751:exon2:c.A155G:p.E52G,;ANNO=splicing:COG6
13	41826782	.	A	G	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MTRF1:NM_004294:exon5:c.T696C:p.Y232Y,;ANNO=splicing:MTRF1
13	42185868	.	C	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA0564:NM_015058:exon39:c.G4721C:p.G1574A,;ANNO=splicing:KIAA0564
13	42266997	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA0564(NM_015058:c.3675+1G>A)
13	42404665	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA0564:NM_015058:exon14:c.G1700C:p.R567T,KIAA0564:NM_001009814:exon14:c.G1700C:p.R567T,;ANNO=splicing:KIAA0564
13	42442613	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA0564:NM_015058:exon10:c.C1081T:p.R361C,KIAA0564:NM_001009814:exon10:c.C1081T:p.R361C,;ANNO=splicing:KIAA0564
13	42772730	.	G	A	100	PASS	AC=43;STUDIES=5;MAC=43;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DGKH:NM_001204506:exon16:c.G1876A:p.V626I,DGKH:NM_001204505:exon16:c.G1876A:p.V626I,DGKH:NM_178009:exon18:c.G2284A:p.V762I,DGKH:NM_152910:exon18:c.G2284A:p.V762I,DGKH:NM_001204504:exon19:c.G2284A:p.V762I,;ANNO=splicing:DGKH
13	42793364	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DGKH(NM_001204504:c.3213-2A>G,NM_152910:c.3213-2A>G,NM_178009:c.3213-2A>G,NM_001204506:c.2805-2A>G,NM_001204505:c.2805-2A>G)
13	42877998	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AKAP11:NM_016248:exon8:c.A5116G:p.S1706G,;ANNO=splicing:AKAP11
13	43175019	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TNFSF11:NM_003701:exon4:c.C434T:p.A145V,TNFSF11:NM_033012:exon6:c.C215T:p.A72V,;ANNO=splicing:TNFSF11
13	43180634	.	T	C	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TNFSF11:NM_003701:exon5:c.T534C:p.G178G,TNFSF11:NM_033012:exon7:c.T315C:p.G105G,;ANNO=splicing:TNFSF11
13	43463378	.	C	T	100	PASS	AC=179;STUDIES=11;MAC=179;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EPSTI1:NM_001002264:exon12:c.G949A:p.G317S,;ANNO=splicing:EPSTI1
13	43500565	.	G	C	100	PASS	AC=36;STUDIES=6;MAC=36;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:EPSTI1:NM_033255:exon7:c.C564G:p.Y188X,EPSTI1:NM_001002264:exon7:c.C564G:p.Y188X,;ANNO=splicing:EPSTI1
13	43528158	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EPSTI1(NM_033255:c.489-1G>T,NM_001002264:c.489-1G>T)
13	43544805	.	T	C	100	PASS	AC=28;STUDIES=4;MAC=28;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EPSTI1:NM_033255:exon2:c.A190G:p.T64A,EPSTI1:NM_001002264:exon2:c.A190G:p.T64A,;ANNO=splicing:EPSTI1
13	43681312	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNAJC15(NM_013238:c.382-2A>G)
13	43935587	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ENOX1:NM_001127615:exon6:c.C210T:p.D70D,ENOX1:NM_017993:exon6:c.G210T:p.V70V,;ANNO=splicing:ENOX1
13	45523975	.	T	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NUFIP1(NM_012345:c.1021-2A>T)
13	46722488	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LCP1:NM_002298:exon9:c.G977A:p.R326Q,;ANNO=splicing:LCP1
13	46917631	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C13orf18:NM_025113:exon15:c.G1878A:p.A626A,;ANNO=splicing:C13orf18
13	46917632	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C13orf18:NM_025113:exon15:c.C1877T:p.A626V,;ANNO=splicing:C13orf18
13	46930565	.	A	G	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C13orf18(NM_025113:c.1330+2T>C)
13	46936672	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C13orf18(NM_025113:c.986+1G>A)
13	46942949	.	A	C	100	PASS	AC=34;STUDIES=2;MAC=34;MAF=0.091;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=synonymous:C13orf18:NM_025113:exon4:c.T537G:p.G179G,;ANNO=splicing:C13orf18
13	46946076	.	C	G	100	PASS	AC=29;STUDIES=5;MAC=29;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C13orf18:NM_025113:exon3:c.G535C:p.G179R,;ANNO=splicing:C13orf18
13	47315777	.	G	T	100	PASS	AC=19;STUDIES=3;MAC=19;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LRCH1:NM_001164211:exon20:c.G2086T:p.A696S,LRCH1:NM_015116:exon19:c.G1981T:p.A661S,;ANNO=splicing:LRCH1
13	47345630	.	C	T	100	PASS	AC=298;STUDIES=19;MAC=298;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ESD:NM_001984:exon10:c.G770A:p.G257D,;ANNO=splicing:ESD
13	47358387	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ESD:NM_001984:exon5:c.C256T:p.R86C,;ANNO=splicing:ESD
13	48947542	.	A	T	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RB1:NM_000321:exon12:c.A1129T:p.T377S,;ANNO=splicing:RB1
13	49089877	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RCBTB2:NM_001268:exon5:c.C43G:p.P15A,;ANNO=splicing:RCBTB2
13	50057097	.	G	A	100	PASS	AC=18456;STUDIES=22;MAC=5782;MAF=0.239;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SETDB2:NM_001160308:exon8:c.G1381A:p.V461M,SETDB2:NM_031915:exon10:c.G1417A:p.V473M,;ANNO=splicing:SETDB2
13	50118998	.	C	T	100	PASS	AC=208;STUDIES=18;MAC=208;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RCBTB1:NM_018191:exon10:c.G1047A:p.E349E,;ANNO=splicing:RCBTB1
13	51921162	.	T	C	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SERPINE3:NM_001101320:exon3:c.T492C:p.G164G,;ANNO=splicing:SERPINE3
13	51963579	.	G	C	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:INTS6:NM_012141:exon6:c.C615G:p.G205G,INTS6:NM_001039937:exon7:c.C576G:p.G192G,;ANNO=splicing:INTS6
13	52332329	.	C	T	100	PASS	AC=364;STUDIES=20;MAC=364;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDFY2:NM_052950:exon11:c.C1066T:p.R356C,;ANNO=splicing:WDFY2
13	52586598	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALG11:NM_001004127:exon1:c.G44C:p.R15T,;ANNO=splicing:ALG11
13	52650279	.	C	A	100	PASS	AC=231;STUDIES=10;MAC=231;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NEK5:NM_199289:exon19:c.G1648T:p.D550Y,;ANNO=splicing:NEK5
13	52684475	.	C	T	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NEK5(NM_199289:c.467+1G>A)
13	52976816	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:THSD1
13	53298133	.	A	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LECT1:NM_001011705:exon4:c.T467A:p.L156Q,LECT1:NM_007015:exon4:c.T467A:p.L156Q,;ANNO=splicing:LECT1
13	53313166	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LECT1:NM_001011705:exon2:c.C213G:p.H71Q,LECT1:NM_007015:exon2:c.C213G:p.H71Q,;ANNO=splicing:LECT1
13	60590205	.	A	G	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DIAPH3:NM_001042517:exon6:c.T701C:p.I234T,;ANNO=splicing:DIAPH3
13	61989160	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PCDH20:NM_022843:exon1:c.G132A:p.P44P,;ANNO=splicing:PCDH20
13	61989161	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PCDH20:NM_022843:exon1:c.C131T:p.P44L,;ANNO=splicing:PCDH20
13	72049980	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DACH1:NM_080759:exon9:c.C1878T:p.A626A,DACH1:NM_004392:exon5:c.C1272T:p.A424A,DACH1:NM_080760:exon6:c.C1434T:p.A478A,;ANNO=splicing:DACH1
13	72204689	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=synonymous:DACH1:NM_080759:exon3:c.C1131T:p.V377V,DACH1:NM_080760:exon3:c.C1131T:p.V377V,;ANNO=synonymous:DACH1:NM_080759:exon3:c.C1131G:p.V377V,DACH1:NM_080760:exon3:c.C1131G:p.V377V,;ANNO=splicing:DACH1;ANNO=splicing:DACH1
13	72204689	.	G	C	100	PASS	AC=23;STUDIES=3;MAC=23;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:DACH1:NM_080759:exon3:c.C1131T:p.V377V,DACH1:NM_080760:exon3:c.C1131T:p.V377V,;ANNO=synonymous:DACH1:NM_080759:exon3:c.C1131G:p.V377V,DACH1:NM_080760:exon3:c.C1131G:p.V377V,;ANNO=splicing:DACH1;ANNO=splicing:DACH1
13	73346033	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DIS3:NM_001128226:exon11:c.T1415C:p.V472A,DIS3:NM_014953:exon11:c.T1505C:p.V502A,;ANNO=splicing:DIS3
13	73636871	.	T	C	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KLF5:NM_001730:exon2:c.T1134C:p.P378P,;ANNO=splicing:KLF5
13	75863245	.	A	C	100	PASS	AC=36;STUDIES=3;MAC=36;MAF=0.044;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TBC1D4:NM_014832:exon20:c.T3488G:p.V1163G,;ANNO=splicing:TBC1D4
13	75873709	.	T	A	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TBC1D4:NM_014832:exon17:c.A2913T:p.G971G,;ANNO=splicing:TBC1D4
13	75884289	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:TBC1D4(NM_014832:c.2383-2A>G)
13	75898371	.	A	C	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TBC1D4(NM_014832:c.2198+2T>G)
13	75915261	.	A	C	100	PASS	AC=1014;STUDIES=21;MAC=1014;MAF=0.044;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TBC1D4:NM_014832:exon7:c.T1611G:p.S537S,;ANNO=splicing:TBC1D4
13	76196005	.	G	A	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LMO7(NM_005358:c.175+1G>A)
13	76197458	.	T	C	100	PASS	AC=560;STUDIES=11;MAC=560;MAF=0.042;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=1;ANNO=splicing:LMO7(NM_005358:c.225+2T>C)
13	76397701	.	A	G	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LMO7:NM_015842:exon12:c.A1942G:p.M648V,LMO7:NM_005358:exon14:c.A1795G:p.M599V,;ANNO=splicing:LMO7
13	76432055	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:LMO7(NM_005358:c.4027-2A>G,NM_015842:c.4065-2A>G)
13	77625946	.	C	T	100	PASS	AC=183;STUDIES=18;MAC=183;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYCBP2:NM_015057:exon81:c.G13755A:p.Q4585Q,;ANNO=splicing:MYCBP2
13	77669736	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYCBP2:NM_015057:exon58:c.T9956C:p.V3319A,;ANNO=splicing:MYCBP2
13	78142431	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:SCEL:NM_001160706:exon7:c.A361C:p.S121R,SCEL:NM_003843:exon7:c.A361C:p.S121R,SCEL:NM_144777:exon7:c.A361C:p.S121R,;ANNO=nonsynonymous:SCEL:NM_001160706:exon7:c.A361G:p.S121G,SCEL:NM_003843:exon7:c.A361G:p.S121G,SCEL:NM_144777:exon7:c.A361G:p.S121G,;ANNO=splicing:SCEL;ANNO=splicing:SCEL
13	78178550	.	G	A	100	PASS	AC=2397;STUDIES=21;MAC=2397;MAF=0.106;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:SCEL:NM_003843:exon18:c.G1097A:p.R366K,SCEL:NM_144777:exon19:c.G1157A:p.R386K,;ANNO=splicing:SCEL
13	78315295	.	G	C	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:SLAIN1
13	79911238	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RBM26:NM_022118:exon18:c.C2651T:p.A884V,;ANNO=splicing:RBM26
13	94482797	.	A	G	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPC6:NM_005708:exon3:c.A710G:p.K237R,;ANNO=splicing:GPC6
13	95114265	.	T	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DCT:NM_001922:exon5:c.A1042T:p.R348W,DCT:NM_001129889:exon5:c.A1042T:p.R348W,;ANNO=splicing:DCT
13	95121301	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DCT(NM_001922:c.295-2A>G,NM_001129889:c.295-2A>G)
13	95264643	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GPR180:NM_180989:exon3:c.T504G:p.S168S,;ANNO=splicing:GPR180
13	95715113	.	C	T	100	PASS	AC=29;STUDIES=5;MAC=29;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCC4:NM_005845:exon26:c.G3211A:p.V1071I,;ANNO=splicing:ABCC4
13	95727686	.	C	G	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ABCC4:NM_005845:exon22:c.G2806C:p.E936Q,;ANNO=splicing:ABCC4
13	95859035	.	C	A	100	PASS	AC=2344;STUDIES=22;MAC=2344;MAF=0.097;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCC4:NM_001105515:exon8:c.G912T:p.K304N,ABCC4:NM_005845:exon8:c.G912T:p.K304N,;ANNO=splicing:ABCC4
13	96282366	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DZIP1:NM_014934:exon7:c.G687A:p.E229E,DZIP1:NM_198968:exon7:c.G687A:p.E229E,;ANNO=splicing:DZIP1
13	96529951	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UGGT2(NM_020121:c.3387+1G>A)
13	96579380	.	A	C	100	PASS	AC=95;STUDIES=15;MAC=95;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UGGT2:NM_020121:exon19:c.T2102G:p.V701G,;ANNO=splicing:UGGT2
13	98655293	.	T	C	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IPO5(NM_002271:c.1551+2T>C)
13	99037097	.	A	G	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FARP1:NM_005766:exon7:c.A610G:p.I204V,;ANNO=splicing:FARP1
13	99091449	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FARP1:NM_005766:exon21:c.C2432T:p.T811M,;ANNO=splicing:FARP1
13	99091450	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FARP1:NM_005766:exon21:c.G2433A:p.T811T,;ANNO=splicing:FARP1
13	99115945	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:STK24:NM_003576:exon7:c.C965T:p.A322V,STK24:NM_001032296:exon7:c.C929T:p.A310V,;ANNO=splicing:STK24
13	99376167	.	C	T	100	PASS	AC=157;STUDIES=12;MAC=157;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC15A1:NM_005073:exon5:c.G364A:p.V122M,;ANNO=splicing:SLC15A1
13	100523315	.	A	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CLYBL:NM_206808:exon7:c.A926T:p.K309M,;ANNO=splicing:CLYBL
13	101020827	.	C	T	100	PASS	AC=198;STUDIES=8;MAC=198;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PCCA:NM_001178004:exon19:c.C1745T:p.S582L,PCCA:NM_001127692:exon18:c.C1667T:p.S556L,PCCA:NM_000282:exon19:c.C1745T:p.S582L,;ANNO=splicing:PCCA
13	101186056	.	T	C	100	PASS	AC=1317;STUDIES=3;MAC=755;MAF=0.364;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:A2LD1
13	101288786	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TMTC4:NM_032813:exon10:c.G1202A:p.R401K,TMTC4:NM_001079669:exon9:c.G1145A:p.R382K,;ANNO=splicing:TMTC4
13	102220050	.	G	A	100	PASS	AC=197;STUDIES=9;MAC=197;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITGBL1:NM_004791:exon3:c.G317A:p.G106D,;ANNO=splicing:ITGBL1
13	103419622	.	C	G	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C13orf27(NM_138779:c.504+1G>C)
13	103710615	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC10A2:NM_000452:exon2:c.A495T:p.I165I,;ANNO=splicing:SLC10A2
13	103710731	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC10A2:NM_000452:exon2:c.G379A:p.V127I,;ANNO=splicing:SLC10A2
13	106119492	.	T	A	100	PASS	AC=71;STUDIES=5;MAC=71;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DAOA(NM_172370:c.133+2T>A)
13	109562497	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO16:NM_001198950:exon16:c.C1924T:p.R642W,MYO16:NM_015011:exon16:c.C1858T:p.R620W,;ANNO=splicing:MYO16
13	109614773	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MYO16:NM_001198950:exon19:c.G2157A:p.V719V,MYO16:NM_015011:exon19:c.G2091A:p.V697V,;ANNO=splicing:MYO16
13	110839486	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL4A1:NM_001845:exon25:c.C1727T:p.P576L,;ANNO=splicing:COL4A1
13	110844632	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL4A1(NM_001845:c.1465-1G>T)
13	111098229	.	G	A	100	PASS	AC=70;STUDIES=7;MAC=70;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:COL4A2:NM_001846:exon17:c.G1011A:p.K337K,;ANNO=splicing:COL4A2
13	111121565	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=synonymous:COL4A2:NM_001846:exon28:c.T2097C:p.G699G,;ANNO=splicing:COL4A2
13	111296732	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CARS2:NM_024537:exon13:c.G1416A:p.Q472Q,;ANNO=splicing:CARS2
13	111298436	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CARS2:NM_024537:exon12:c.C1195T:p.L399F,;ANNO=splicing:CARS2
13	111340173	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CARS2:NM_024537:exon5:c.G466T:p.V156F,;ANNO=splicing:CARS2
13	111562966	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ANKRD10:NM_017664:exon2:c.C362T:p.P121L,;ANNO=splicing:ANKRD10
13	111870226	.	C	T	100	PASS	AC=258;STUDIES=20;MAC=258;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGEF7:NM_001113512:exon4:c.C582T:p.S194S,ARHGEF7:NM_001113513:exon4:c.C198T:p.S66S,ARHGEF7:NM_001113511:exon6:c.C732T:p.S244S,ARHGEF7:NM_003899:exon4:c.C198T:p.S66S,ARHGEF7:NM_145735:exon5:c.C669T:p.S223S,;ANNO=splicing:ARHGEF7
13	111995104	.	G	A	100	PASS	AC=315;STUDIES=20;MAC=315;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C13orf16:NM_152324:exon5:c.G241A:p.V81I,;ANNO=splicing:C13orf16
13	113086835	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPACA7:NM_145248:exon6:c.G523A:p.G175R,;ANNO=splicing:SPACA7
13	113181257	.	G	A	100	PASS	AC=15;STUDIES=4;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TUBGCP3:NM_006322:exon13:c.C1554T:p.D518D,;ANNO=splicing:TUBGCP3
13	113223467	.	C	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TUBGCP3:NM_006322:exon2:c.G183A:p.E61E,;ANNO=splicing:TUBGCP3
13	113488903	.	A	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ATP11A:NM_015205:exon15:c.A1560T:p.R520S,ATP11A:NM_032189:exon15:c.A1560T:p.R520S,;ANNO=splicing:ATP11A
13	113669159	.	C	T	100	PASS	AC=16;STUDIES=6;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MCF2L:NM_024979:exon2:c.G156T:p.G52G,MCF2L:NM_001112732:exon2:c.A162T:p.P54P,;ANNO=splicing:MCF2L
13	113741770	.	C	T	100	PASS	AC=77;STUDIES=17;MAC=77;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MCF2L:NM_001112732:exon22:c.A2595T:p.E865D,;ANNO=splicing:MCF2L
13	113761160	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:F7:NM_000131:exon2:c.C66T:p.G22G,;ANNO=splicing:F7
13	113768273	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:F7:NM_000131:exon5:c.G429A:p.T143T,F7:NM_019616:exon4:c.G363A:p.T121T,;ANNO=splicing:F7
13	113768274	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:F7:NM_000131:exon5:c.C430T:p.H144Y,F7:NM_019616:exon4:c.C364T:p.H122Y,;ANNO=splicing:F7
13	113783926	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:F10:NM_000504:exon2:c.G231A:p.T77T,;ANNO=splicing:F10
13	113793784	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:F10:NM_000504:exon4:c.T370C:p.F124L,;ANNO=splicing:F10
13	113832487	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PCID2(NM_018386:c.1224+1G>A,NM_001127203:c.1224+1G>A)
13	113897473	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CUL4A:NM_001008895:exon11:c.C1227A:p.I409I,CUL4A:NM_003589:exon11:c.C927A:p.I309I,;ANNO=splicing:CUL4A
13	113975873	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LAMP1:NM_005561:exon8:c.C945T:p.D315D,;ANNO=splicing:LAMP1
13	113999275	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GRTP1(NM_024719:c.465-1G>A)
13	114188554	.	C	T	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:TMCO3:NM_017905:exon9:c.C1538A:p.T513K,;ANNO=nonsynonymous:TMCO3:NM_017905:exon9:c.C1538T:p.T513M,;ANNO=splicing:TMCO3;ANNO=splicing:TMCO3
13	114277496	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TFDP1:NM_007111:exon4:c.C81T:p.G27G,;ANNO=splicing:TFDP1
13	114325970	.	C	T	100	PASS	AC=55;STUDIES=5;MAC=55;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:GRK1:NM_002929:exon3:c.C984T:p.D328D,;ANNO=splicing:GRK1
13	114504784	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM70B:NM_182614:exon7:c.T668C:p.M223T,;ANNO=splicing:FAM70B
13	114508000	.	A	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM70B:NM_182614:exon8:c.A812C:p.Q271P,;ANNO=splicing:FAM70B
13	114765061	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RASA3:NM_007368:exon20:c.C1932T:p.N644N,;ANNO=splicing:RASA3
13	114792865	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RASA3:NM_007368:exon7:c.G603A:p.E201E,;ANNO=splicing:RASA3
13	115024810	.	A	G	100	PASS	AC=44;STUDIES=5;MAC=44;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CDC16:NM_001078645:exon14:c.A1251G:p.E417E,CDC16:NM_003903:exon14:c.A1251G:p.E417E,;ANNO=splicing:CDC16
13	115030714	.	T	C	100	PASS	AC=6617;STUDIES=21;MAC=6617;MAF=0.294;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:CDC16:NM_001078645:exon17:c.T1602C:p.I534I,CDC16:NM_003903:exon17:c.T1602C:p.I534I,;ANNO=splicing:CDC16
13	115047496	.	G	C	100	PASS	AC=946;STUDIES=6;MAC=946;MAF=0.285;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=7;ANNO=nonsynonymous:UPF3A:NM_023011:exon2:c.G208C:p.V70L,UPF3A:NM_080687:exon2:c.G208C:p.V70L,;ANNO=splicing:UPF3A
13	115067206	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:UPF3A:NM_023011:exon9:c.G1008A:p.T336T,UPF3A:NM_080687:exon8:c.G909A:p.T303T,;ANNO=splicing:UPF3A
14	20002224	.	C	T	100	PASS	AC=97;STUDIES=2;MAC=97;MAF=0.049;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:POTEM(NM_001145442:c.1197+1G>A)
14	20611895	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OR4N5:NM_001004724:exon1:c.A1G:p.M1V,;ANNO=splicing:OR4N5
14	20760285	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TTC5:NM_138376:exon9:c.A1060G:p.T354A,;ANNO=splicing:TTC5
14	20764550	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TTC5:NM_138376:exon6:c.C695T:p.T232M,;ANNO=splicing:TTC5
14	20784718	.	G	T	100	PASS	AC=4100;STUDIES=9;MAC=3588;MAF=0.467;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:CCNB1IP1
14	20820404	.	A	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PARP2:NM_001042618:exon7:c.A498T:p.K166N,PARP2:NM_005484:exon7:c.A537T:p.K179N,;ANNO=splicing:PARP2
14	20850874	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TEP1:NM_007110:exon28:c.A4048T:p.M1350L,;ANNO=splicing:TEP1
14	20851902	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TEP1:NM_007110:exon25:c.G3710A:p.R1237Q,;ANNO=splicing:TEP1
14	20852198	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TEP1:NM_007110:exon24:c.T3533C:p.L1178P,;ANNO=splicing:TEP1
14	20864781	.	G	C	100	PASS	AC=47;STUDIES=12;MAC=47;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:TEP1:NM_007110:exon10:c.C1658G:p.A553G,;ANNO=nonsynonymous:TEP1:NM_007110:exon10:c.C1658A:p.A553E,;ANNO=splicing:TEP1;ANNO=splicing:TEP1
14	20871609	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TEP1(NM_007110:c.1194-2A>G)
14	20876621	.	G	A	100	PASS	AC=199;STUDIES=8;MAC=199;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:TEP1
14	20897954	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KLHL33:NM_001109997:exon2:c.G881A:p.R294K,;ANNO=splicing:KLHL33
14	20917124	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:OSGEP:NM_017807:exon5:c.C556T:p.R186X,;ANNO=splicing:OSGEP
14	20940468	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PNP:NM_000270:exon2:c.T13C:p.Y5H,;ANNO=splicing:PNP
14	21026773	.	C	T	100	PASS	AC=1407;STUDIES=5;MAC=1407;MAF=0.227;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:RNASE9(NM_001110361:c.1+1G>A,NM_001110358:c.1+1G>A)
14	21238293	.	C	T	100	PASS	AC=19;STUDIES=2;MAC=19;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:EDDM3B
14	21460700	.	C	G	100	PASS	AC=29;STUDIES=2;MAC=29;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:METTL17:NM_022734:exon5:c.C447G:p.S149R,METTL17:NM_001029991:exon5:c.C447G:p.S149R,;ANNO=splicing:METTL17
14	21464872	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:METTL17:NM_001029991:exon13:c.T1267G:p.Y423D,;ANNO=splicing:METTL17(NM_022734:c.1265+2T>G)
14	21487276	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NDRG2:NM_016250:exon11:c.A718G:p.R240G,NDRG2:NM_201541:exon11:c.A718G:p.R240G,NDRG2:NM_201539:exon11:c.A760G:p.R254G,NDRG2:NM_201536:exon10:c.A718G:p.R240G,NDRG2:NM_201540:exon12:c.A760G:p.R254G,NDRG2:NM_201538:exon10:c.A718G:p.R240G,NDRG2:NM_201535:exon12:c.A760G:p.R254G,NDRG2:NM_201537:exon11:c.A760G:p.R254G,;ANNO=splicing:NDRG2
14	21491063	.	T	C	100	PASS	AC=20;STUDIES=3;MAC=20;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NDRG2:NM_201539:exon3:c.A77G:p.E26G,NDRG2:NM_201540:exon4:c.A77G:p.E26G,NDRG2:NM_201535:exon4:c.A77G:p.E26G,NDRG2:NM_201537:exon3:c.A77G:p.E26G,;ANNO=splicing:NDRG2
14	21543657	.	G	A	100	PASS	AC=40;STUDIES=6;MAC=40;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGEF40:NM_018071:exon4:c.G1617A:p.T539T,;ANNO=splicing:ARHGEF40
14	21679564	.	C	G	100	PASS	AC=37;STUDIES=4;MAC=37;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:HNRNPC(NM_001077443:c.798+1G>C,NM_001077442:c.837+1G>C,NM_031314:c.837+1G>C,NM_004500:c.798+1G>C)
14	21679970	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HNRNPC:NM_004500:exon7:c.A636G:p.A212A,HNRNPC:NM_001077442:exon6:c.A675G:p.A225A,HNRNPC:NM_001077443:exon6:c.A636G:p.A212A,HNRNPC:NM_031314:exon7:c.A675G:p.A225A,;ANNO=splicing:HNRNPC
14	21778743	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RPGRIP1:NM_020366:exon7:c.G907A:p.A303T,;ANNO=splicing:RPGRIP1
14	21811196	.	A	G	100	PASS	AC=323;STUDIES=17;MAC=323;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RPGRIP1:NM_020366:exon21:c.A3341G:p.D1114G,;ANNO=splicing:RPGRIP1
14	21943027	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RAB2B:NM_001163380:exon2:c.C47T:p.T16M,RAB2B:NM_032846:exon3:c.C185T:p.T62M,;ANNO=splicing:RAB2B
14	21967946	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:METTL3:NM_019852:exon7:c.G1305A:p.R435R,;ANNO=splicing:METTL3
14	21971721	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:METTL3(NM_019852:c.318-1G>A)
14	23240643	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OXA1L:NM_005015:exon10:c.G1364A:p.G455D,;ANNO=splicing:OXA1L
14	23242924	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC7A7:NM_001126106:exon11:c.C1431A:p.A477A,SLC7A7:NM_003982:exon10:c.G1431A:p.G477G,SLC7A7:NM_001126105:exon11:c.C1431A:p.V477V,;ANNO=splicing:SLC7A7
14	23244749	.	C	T	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC7A7:NM_001126106:exon8:c.C999A:p.F333L,;ANNO=splicing:SLC7A7
14	23245147	.	T	A	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC7A7(NM_003982:c.894-2A>T,NM_001126106:c.894-2A>T,NM_001126105:c.894-2A>T)
14	23282110	.	A	G	100	PASS	AC=11375;STUDIES=21;MAC=9971;MAF=0.467;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:SLC7A7:NM_001126105:exon3:c.A498C:p.Q166H,;ANNO=splicing:SLC7A7
14	23310700	.	G	C	100	PASS	AC=36;STUDIES=6;MAC=36;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MMP14:NM_004995:exon2:c.G109C:p.A37P,;ANNO=splicing:MMP14
14	23344264	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LRP10:NM_014045:exon4:c.G216C:p.R72S,;ANNO=splicing:LRP10
14	23355232	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:REM2(NM_173527:c.519-1G>C)
14	23375578	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RBM23(NM_001077352:c.179-1G>A,NM_001077351:c.227-1G>A,NM_018107:c.179-1G>A)
14	23378803	.	T	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RBM23:NM_018107:exon3:c.A68T:p.D23V,RBM23:NM_001077351:exon3:c.A68T:p.D23V,RBM23:NM_001077352:exon3:c.A68T:p.D23V,;ANNO=splicing:RBM23
14	23397336	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PRMT5:NM_006109:exon3:c.C314T:p.A105V,PRMT5:NM_001039619:exon3:c.C263T:p.A88V,;ANNO=splicing:PRMT5
14	23530293	.	C	T	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ACIN1:NM_001164816:exon11:c.G1518A:p.Q506Q,ACIN1:NM_001164814:exon18:c.G3660A:p.Q1220Q,ACIN1:NM_001164817:exon12:c.G1425A:p.Q475Q,ACIN1:NM_001164815:exon17:c.G3579A:p.Q1193Q,ACIN1:NM_014977:exon18:c.G3699A:p.Q1233Q,;ANNO=splicing:ACIN1
14	23531731	.	A	C	100	PASS	AC=23;STUDIES=2;MAC=23;MAF=0.083;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACIN1:NM_001164816:exon8:c.T878G:p.V293G,ACIN1:NM_001164814:exon15:c.T3020G:p.V1007G,ACIN1:NM_001164817:exon9:c.T785G:p.V262G,ACIN1:NM_001164815:exon14:c.T2939G:p.V980G,ACIN1:NM_014977:exon15:c.T3059G:p.V1020G,;ANNO=splicing:ACIN1
14	23816670	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC22A17:NM_020372:exon7:c.A1215T:p.R405S,;ANNO=splicing:SLC22A17
14	23829490	.	C	T	100	PASS	AC=297;STUDIES=19;MAC=297;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EFS:NM_032459:exon2:c.G19A:p.V7M,EFS:NM_005864:exon3:c.G298A:p.V100M,;ANNO=splicing:EFS
14	23830042	.	T	C	100	PASS	AC=6827;STUDIES=19;MAC=6827;MAF=0.354;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=3;ANNO=nonsynonymous:EFS:NM_005864:exon2:c.A19G:p.T7A,;ANNO=splicing:EFS
14	23856861	.	C	T	100	PASS	AC=376;STUDIES=18;MAC=376;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MYH6:NM_002471:exon32:c.G4527A:p.E1509E,;ANNO=splicing:MYH6
14	23858263	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:MYH6:NM_002471:exon29:c.C3980T:p.A1327V,;ANNO=splicing:MYH6
14	23869918	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:MYH6:NM_002471:exon13:c.C1410T:p.D470D,;ANNO=splicing:MYH6
14	23874432	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYH6:NM_002471:exon5:c.G502C:p.D168H,;ANNO=splicing:MYH6
14	23874590	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:MYH6(NM_002471:c.345-2A>G)
14	23888691	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYH7(NM_000257:c.3853+1G>A)
14	23893116	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MYH7:NM_000257:exon23:c.G2922A:p.K974K,;ANNO=splicing:MYH7
14	23900794	.	G	A	100	PASS	AC=4571;STUDIES=20;MAC=4571;MAF=0.210;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:MYH7:NM_000257:exon8:c.C732T:p.F244F,;ANNO=splicing:MYH7
14	23902293	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYH7:NM_000257:exon4:c.C345T:p.Y115Y,;ANNO=splicing:MYH7
14	23938936	.	G	A	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NGDN:NM_015514:exon1:c.G12A:p.L4L,NGDN:NM_001042635:exon1:c.G12A:p.L4L,;ANNO=splicing:NGDN
14	24033254	.	C	T	100	PASS	AC=22;STUDIES=7;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AP1G2(NM_003917:c.1091+1G>A)
14	24035772	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AP1G2:NM_003917:exon3:c.A328G:p.N110D,;ANNO=splicing:AP1G2
14	24108565	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DHRS2:NM_005794:exon3:c.G318A:p.K106K,DHRS2:NM_182908:exon3:c.G318A:p.K106K,;ANNO=splicing:DHRS2
14	24113370	.	T	C	100	PASS	AC=15;STUDIES=7;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DHRS2:NM_005794:exon6:c.T539C:p.V180A,DHRS2:NM_182908:exon6:c.T539C:p.V180A,;ANNO=splicing:DHRS2
14	24113619	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DHRS2:NM_005794:exon7:c.C542T:p.A181V,DHRS2:NM_182908:exon7:c.C542T:p.A181V,;ANNO=splicing:DHRS2
14	24424421	.	G	C	100	PASS	AC=54;STUDIES=4;MAC=54;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:DHRS4:NM_021004:exon2:c.G306C:p.T102T,;ANNO=splicing:DHRS4
14	24435493	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DHRS4:NM_021004:exon6:c.G533A:p.G178D,;ANNO=splicing:DHRS4
14	24458283	.	G	T	100	PASS	AC=220;STUDIES=8;MAC=220;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:DHRS4L2:NM_198083:exon1:c.G127T:p.G43W,;ANNO=splicing:DHRS4L2
14	24459567	.	T	C	100	PASS	AC=26;STUDIES=3;MAC=26;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:DHRS4L2:NM_001193635:exon4:c.T221C:p.M74T,DHRS4L2:NM_001193636:exon2:c.T2C:p.M1T,DHRS4L2:NM_198083:exon2:c.T305C:p.M102T,DHRS4L2:NM_001193637:exon2:c.T2C:p.M1T,;ANNO=splicing:DHRS4L2
14	24464241	.	G	T	100	PASS	AC=13;STUDIES=7;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:DHRS4L2:NM_001193636:exon3:c.G4T:p.A2S,DHRS4L2:NM_198083:exon3:c.G307T:p.A103S,DHRS4L2:NM_001193637:exon3:c.G4T:p.A2S,;ANNO=splicing:DHRS4L2
14	24505836	.	T	G	100	PASS	AC=152;STUDIES=8;MAC=152;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:DHRS4L1:NM_001082488:exon1:c.T127G:p.W43G,;ANNO=splicing:DHRS4L1
14	24511951	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DHRS4L1(NM_001082488:c.360+1G>A)
14	24524016	.	C	T	100	PASS	AC=14;STUDIES=9;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LRRC16B:NM_138360:exon6:c.C459T:p.C153C,;ANNO=splicing:LRRC16B
14	24542708	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CPNE6:NM_006032:exon3:c.G169A:p.V57I,;ANNO=splicing:CPNE6
14	24569423	.	G	T	100	PASS	AC=30;STUDIES=11;MAC=30;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:PCK2:NM_001018073:exon7:c.G1235T:p.G412V,;ANNO=splicing:PCK2(NM_004563:c.1234+1G>T)
14	24572367	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PCK2(NM_004563:c.1372-2A>T)
14	24572466	.	T	C	100	PASS	AC=18;STUDIES=8;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PCK2(NM_004563:c.1468+2T>C)
14	24590199	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:DCAF11:NM_001163484:exon12:c.A1245C:p.K415N,DCAF11:NM_181357:exon12:c.A1167C:p.K389N,DCAF11:NM_025230:exon12:c.A1245C:p.K415N,;ANNO=nonsynonymous:DCAF11:NM_001163484:exon12:c.A1245T:p.K415N,DCAF11:NM_181357:exon12:c.A1167T:p.K389N,DCAF11:NM_025230:exon12:c.A1245T:p.K415N,;ANNO=splicing:DCAF11;ANNO=splicing:DCAF11
14	24613608	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:PSME2(NM_002818:c.429+1G>C)
14	24675928	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TSSK4:NM_174944:exon2:c.C439T:p.R147W,TSSK4:NM_001184739:exon2:c.C439T:p.R147C,;ANNO=splicing:TSSK4
14	24682614	.	C	G	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CHMP4A(NM_014169:c.160+1G>C)
14	24683601	.	C	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MDP1:NM_001199822:exon5:c.G318C:p.R106S,MDP1:NM_138476:exon5:c.G318C:p.R106S,NEDD8-MDP1:NM_001199823:exon6:c.G369C:p.R123S,;ANNO=splicing:MDP1,NEDD8-MDP1
14	24729019	.	T	C	100	PASS	AC=12;STUDIES=7;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TGM1(NM_000359:c.876-2A>G)
14	24729144	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TGM1(NM_000359:c.876+2T>C)
14	24760346	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DHRS1:NM_138452:exon8:c.C804T:p.D268D,DHRS1:NM_001136050:exon8:c.C804T:p.D268D,;ANNO=splicing:DHRS1
14	24770062	.	T	G	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C14orf21:NM_174913:exon2:c.T696G:p.S232S,;ANNO=splicing:C14orf21
14	24775152	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CIDEB(NM_014430:c.527+1G>A)
14	24775345	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CIDEB(NM_014430:c.336-2A>G)
14	24775579	.	C	T	100	PASS	AC=13;STUDIES=7;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CIDEB(NM_014430:c.336+1G>A)
14	24776721	.	C	T	100	PASS	AC=67;STUDIES=8;MAC=67;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CIDEB:NM_014430:exon4:c.G42A:p.R14R,;ANNO=splicing:CIDEB
14	24779805	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:LTB4R2
14	24798267	.	C	T	100	PASS	AC=67;STUDIES=12;MAC=67;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ADCY4:NM_001198592:exon11:c.G1524A:p.P508P,ADCY4:NM_139247:exon11:c.G1524A:p.P508P,ADCY4:NM_001198568:exon10:c.G1524A:p.P508P,;ANNO=splicing:ADCY4
14	24798738	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:ADCY4:NM_001198592:exon10:c.C1219T:p.R407X,ADCY4:NM_139247:exon10:c.C1219T:p.R407X,ADCY4:NM_001198568:exon9:c.C1219T:p.R407X,;ANNO=splicing:ADCY4
14	24800334	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADCY4:NM_001198592:exon7:c.G820A:p.V274M,ADCY4:NM_139247:exon7:c.G820A:p.V274M,ADCY4:NM_001198568:exon6:c.G820A:p.V274M,;ANNO=splicing:ADCY4
14	24803698	.	A	C	100	PASS	AC=44;STUDIES=2;MAC=44;MAF=0.234;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADCY4(NM_001198592:c.159+2T>G,NM_139247:c.159+2T>G,NM_001198568:c.159+2T>G)
14	24806902	.	G	A	100	PASS	AC=1352;STUDIES=21;MAC=1352;MAF=0.058;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RIPK3:NM_006871:exon7:c.C899T:p.T300M,;ANNO=splicing:RIPK3
14	24882304	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NYNRIN:NM_025081:exon7:c.G2744A:p.R915H,;ANNO=splicing:NYNRIN
14	24882522	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NYNRIN:NM_025081:exon8:c.C2745T:p.R915R,;ANNO=splicing:NYNRIN
14	24911465	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SDR39U1:NM_020195:exon3:c.A125G:p.D42G,;ANNO=splicing:SDR39U1
14	24975235	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CMA1:NM_001836:exon4:c.A599G:p.K200R,;ANNO=splicing:CMA1
14	24976561	.	C	G	100	PASS	AC=16;STUDIES=2;MAC=16;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CMA1(NM_001836:c.209+1G>C)
14	25076355	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GZMH:NM_033423:exon4:c.G597A:p.K199K,;ANNO=splicing:GZMH
14	25078765	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GZMH:NM_033423:exon1:c.G55A:p.E19K,;ANNO=splicing:GZMH
14	30133064	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PRKD1:NM_002742:exon4:c.G537T:p.G179G,;ANNO=splicing:PRKD1
14	31388312	.	C	T	100	PASS	AC=28;STUDIES=8;MAC=28;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STRN3:NM_001083893:exon9:c.G1100A:p.R367K,;ANNO=splicing:STRN3
14	31535541	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AP4S1(NM_007077:c.138+1G>A,NM_001128126:c.138+1G>A)
14	31605738	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HECTD1:NM_015382:exon20:c.T3113G:p.M1038R,;ANNO=splicing:HECTD1
14	31782395	.	A	G	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:HEATR5A:NM_015473:exon28:c.T4220C:p.V1407A,;ANNO=splicing:HEATR5A
14	31790886	.	T	G	100	PASS	AC=1343;STUDIES=19;MAC=1343;MAF=0.066;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HEATR5A:NM_015473:exon25:c.A3788C:p.N1263T,;ANNO=splicing:HEATR5A
14	32142561	.	G	A	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NUBPL:NM_001201573:exon3:c.G95A:p.S32N,NUBPL:NM_025152:exon5:c.G383A:p.S128N,;ANNO=splicing:NUBPL
14	33836390	.	A	T	100	PASS	AC=22;STUDIES=2;MAC=22;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NPAS3(NM_001165893:c.295-2A>T,NM_001164749:c.385-2A>T,NM_173159:c.346-2A>T)
14	34266789	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NPAS3(NM_001165893:c.1336+2T>C,NM_001164749:c.1426+2T>C,NM_022123:c.1330+2T>C,NM_173159:c.1387+2T>C)
14	35234474	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BAZ1A:NM_013448:exon22:c.A3302G:p.D1101G,BAZ1A:NM_182648:exon21:c.A3206G:p.D1069G,;ANNO=splicing:BAZ1A
14	35480865	.	A	C	100	PASS	AC=29;STUDIES=12;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SRP54:NM_003136:exon8:c.A636C:p.I212I,SRP54:NM_001146282:exon7:c.A489C:p.I163I,;ANNO=splicing:SRP54
14	35565764	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PPP2R3C:NM_017917:exon9:c.G838A:p.G280S,;ANNO=splicing:PPP2R3C
14	35739607	.	C	T	100	PASS	AC=127;STUDIES=12;MAC=127;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KIAA0391:NM_014672:exon7:c.C1425T:p.I475I,;ANNO=splicing:KIAA0391
14	35777201	.	A	G	100	PASS	AC=27;STUDIES=10;MAC=27;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:PSMA6:NM_002791:exon2:c.A78G:p.E26E,;ANNO=splicing:PSMA6
14	36041924	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:RALGAPA1:NM_194301:exon37:c.T5692C:p.L1898L,RALGAPA1:NM_014990:exon37:c.T5692C:p.L1898L,;ANNO=splicing:RALGAPA1
14	36155749	.	G	A	100	PASS	AC=79;STUDIES=7;MAC=79;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:RALGAPA1:NM_194301:exon18:c.C2558T:p.S853L,RALGAPA1:NM_014990:exon18:c.C2558T:p.S853L,;ANNO=splicing:RALGAPA1
14	36190895	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:RALGAPA1:NM_194301:exon16:c.C2265T:p.V755V,RALGAPA1:NM_014990:exon16:c.C2265T:p.V755V,;ANNO=splicing:RALGAPA1
14	36334967	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BRMS1L:NM_032352:exon8:c.C727T:p.P243S,;ANNO=splicing:BRMS1L
14	37149866	.	C	A	100	PASS	AC=351;STUDIES=13;MAC=351;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC25A21:NM_030631:exon10:c.G897T:p.W299C,;ANNO=splicing:SLC25A21(NM_001171170:c.896+1G>T)
14	45473265	.	G	A	100	PASS	AC=653;STUDIES=14;MAC=653;MAF=0.042;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FAM179B:NM_015091:exon4:c.G2340A:p.V780V,;ANNO=splicing:FAM179B
14	45590822	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FKBP3:NM_002013:exon4:c.G320T:p.G107V,;ANNO=splicing:FKBP3
14	45618040	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FANCM:NM_020937:exon4:c.G760A:p.A254T,;ANNO=splicing:FANCM
14	50069088	.	C	T	100	PASS	AC=52;STUDIES=4;MAC=52;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LRR1:NM_203467:exon2:c.C184T:p.L62L,LRR1:NM_152329:exon2:c.C184T:p.L62L,;ANNO=splicing:LRR1
14	50190592	.	A	G	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KLHDC1:NM_172193:exon5:c.A405G:p.R135R,;ANNO=splicing:KLHDC1
14	50195644	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KLHDC1:NM_172193:exon7:c.G568A:p.G190S,;ANNO=splicing:KLHDC1
14	50246931	.	A	C	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KLHDC2:NM_014315:exon9:c.A774C:p.L258F,;ANNO=splicing:KLHDC2
14	50246932	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KLHDC2:NM_014315:exon9:c.A775G:p.I259V,;ANNO=splicing:KLHDC2
14	50247039	.	A	G	100	PASS	AC=52;STUDIES=6;MAC=52;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KLHDC2:NM_014315:exon9:c.A882G:p.L294L,;ANNO=splicing:KLHDC2
14	50298925	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NEMF:NM_004713:exon9:c.C806T:p.T269M,;ANNO=splicing:NEMF
14	50459592	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C14orf182(NM_001012706:c.206-1G>A)
14	50559288	.	A	G	100	PASS	AC=496;STUDIES=20;MAC=496;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C14orf183:NM_001014830:exon1:c.T74C:p.M25T,;ANNO=splicing:C14orf183
14	50579332	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:METTL21D(NM_024558:c.675+1G>A)
14	50735881	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:L2HGDH:NM_024884:exon7:c.G906A:p.P302P,;ANNO=splicing:L2HGDH
14	50769619	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:L2HGDH(NM_024884:c.256+1G>A)
14	50862418	.	C	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDKL1(NM_004196:c.171+1G>C)
14	50904252	.	T	C	100	PASS	AC=142;STUDIES=8;MAC=142;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MAP4K5:NM_006575:exon25:c.A1824G:p.R608R,MAP4K5:NM_198794:exon25:c.A1824G:p.R608R,;ANNO=splicing:MAP4K5
14	51208446	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NIN:NM_182944:exon25:c.G5302T:p.V1768F,NIN:NM_016350:exon24:c.G3163T:p.V1055F,NIN:NM_020921:exon25:c.G5302T:p.V1768F,NIN:NM_182946:exon25:c.G5302T:p.V1768F,;ANNO=splicing:NIN
14	51210247	.	A	G	100	PASS	AC=97;STUDIES=6;MAC=97;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NIN:NM_182944:exon24:c.T5188C:p.L1730L,NIN:NM_016350:exon23:c.T3049C:p.L1017L,NIN:NM_020921:exon24:c.T5188C:p.L1730L,NIN:NM_182946:exon24:c.T5188C:p.L1730L,;ANNO=splicing:NIN
14	51221460	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NIN:NM_182944:exon19:c.G4664C:p.W1555S,NIN:NM_016350:exon18:c.G2525C:p.W842S,NIN:NM_020921:exon19:c.G4664C:p.W1555S,NIN:NM_182946:exon19:c.G4664C:p.W1555S,;ANNO=splicing:NIN
14	51273456	.	T	A	100	PASS	AC=106;STUDIES=7;MAC=106;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NIN:NM_182944:exon4:c.A264T:p.P88P,NIN:NM_016350:exon4:c.A264T:p.P88P,NIN:NM_020921:exon4:c.A264T:p.P88P,NIN:NM_182946:exon4:c.A264T:p.P88P,;ANNO=splicing:NIN
14	51348345	.	G	T	100	PASS	AC=184;STUDIES=16;MAC=184;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABHD12B(NM_181814:c.255+1G>T,NM_001206673:c.486+1G>T)
14	51411248	.	T	C	100	PASS	AC=133;STUDIES=2;MAC=133;MAF=0.094;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:PYGL
14	52458035	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:C14orf166:NM_016039:exon2:c.A62G:p.D21G,;ANNO=splicing:C14orf166
14	52465299	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C14orf166(NM_016039:c.373+1G>T)
14	52477765	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NID2:NM_007361:exon18:c.G3551A:p.G1184D,;ANNO=splicing:NID2
14	52494064	.	T	C	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NID2(NM_007361:c.2530-2A>G)
14	52496407	.	C	T	100	PASS	AC=21105;STUDIES=21;MAC=2553;MAF=0.108;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:NID2:NM_007361:exon10:c.G2259A:p.E753E,;ANNO=splicing:NID2
14	52505694	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NID2:NM_007361:exon9:c.T2028C:p.T676T,;ANNO=splicing:NID2
14	52509501	.	T	C	100	PASS	AC=6848;STUDIES=21;MAC=6848;MAF=0.292;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NID2:NM_007361:exon6:c.A1578G:p.E526E,;ANNO=splicing:NID2
14	52936891	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TXNDC16:NM_020784:exon16:c.C1482G:p.L494L,TXNDC16:NM_001160047:exon16:c.C1467G:p.L489L,;ANNO=splicing:TXNDC16
14	52985997	.	C	T	100	PASS	AC=456;STUDIES=12;MAC=456;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TXNDC16:NM_020784:exon7:c.G407A:p.S136N,;ANNO=splicing:TXNDC16(NM_001160047:c.392-1G>A)
14	53124867	.	C	T	100	PASS	AC=30;STUDIES=6;MAC=30;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ERO1L:NM_014584:exon10:c.G690A:p.E230E,;ANNO=splicing:ERO1L
14	53224593	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:STYX:NM_145251:exon8:c.G382T:p.A128S,STYX:NM_001130701:exon9:c.G382T:p.A128S,;ANNO=splicing:STYX
14	53235651	.	G	A	100	PASS	AC=11;STUDIES=8;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STYX:NM_145251:exon10:c.G598A:p.G200S,STYX:NM_001130701:exon11:c.G598A:p.G200S,;ANNO=splicing:STYX
14	53518563	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DDHD1:NM_001160148:exon12:c.C2520T:p.L840L,;ANNO=splicing:DDHD1
14	55034829	.	C	T	100	PASS	AC=62;STUDIES=4;MAC=62;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SAMD4A:NM_015589:exon1:c.C192T:p.P64P,SAMD4A:NM_001161576:exon1:c.C192T:p.P64P,;ANNO=splicing:SAMD4A
14	55312486	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GCH1:NM_000161:exon5:c.C626T:p.T209I,GCH1:NM_001024071:exon5:c.C626T:p.T209M,GCH1:NM_001024024:exon5:c.C626T:p.T209I,GCH1:NM_001024070:exon5:c.C626T:p.T209M,;ANNO=splicing:GCH1
14	55433194	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:WDHD1:NM_007086:exon18:c.C2309T:p.A770V,WDHD1:NM_001008396:exon17:c.C1940T:p.A647V,;ANNO=splicing:WDHD1
14	55467712	.	T	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDHD1(NM_007086:c.693-2A>C,NM_001008396:c.324-2A>C)
14	55468812	.	T	A	100	PASS	AC=69;STUDIES=13;MAC=69;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDHD1:NM_007086:exon8:c.A692T:p.Q231L,WDHD1:NM_001008396:exon7:c.A323T:p.Q108L,;ANNO=splicing:WDHD1
14	55604109	.	G	A	100	PASS	AC=38;STUDIES=12;MAC=38;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LGALS3:NM_001177388:exon2:c.G18A:p.S6S,LGALS3:NM_002306:exon2:c.G18A:p.S6S,;ANNO=splicing:LGALS3
14	55619367	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DLGAP5(NM_014750:c.2063-2A>G,NM_001146015:c.2063-2A>G)
14	55903280	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:TBPL2:NM_199047:exon2:c.C607T:p.Q203X,;ANNO=splicing:TBPL2
14	56150818	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KTN1:NM_004986:exon42:c.G3900A:p.E1300E,KTN1:NM_001079521:exon44:c.G4071A:p.E1357E,KTN1:NM_001079522:exon43:c.G3918A:p.E1306E,;ANNO=splicing:KTN1
14	57083902	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:C14orf101:NM_017799:exon9:c.G943A:p.D315N,;ANNO=splicing:C14orf101
14	57103316	.	C	T	100	PASS	AC=11;STUDIES=8;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C14orf101:NM_017799:exon15:c.C1869T:p.D623D,;ANNO=splicing:C14orf101
14	57740963	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MUDENG:NM_018229:exon2:c.C76T:p.R26W,;ANNO=splicing:MUDENG
14	57947314	.	G	A	100	PASS	AC=30;STUDIES=6;MAC=30;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C14orf105:NM_018168:exon5:c.C654T:p.P218P,;ANNO=splicing:C14orf105
14	57948380	.	T	C	100	PASS	AC=11725;STUDIES=15;MAC=5649;MAF=0.325;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=2;ANNO=splicing:C14orf105(NM_018168:c.393-2A>G)
14	58048151	.	C	T	100	PASS	AC=15;STUDIES=4;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC35F4:NM_001206920:exon4:c.G585A:p.R195R,;ANNO=splicing:SLC35F4
14	58056227	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC35F4:NM_001206920:exon3:c.C291T:p.D97D,;ANNO=splicing:SLC35F4
14	58667012	.	A	G	100	PASS	AC=22;STUDIES=4;MAC=22;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACTR10:NM_018477:exon1:c.A77G:p.K26R,;ANNO=splicing:ACTR10
14	58690341	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ACTR10:NM_018477:exon9:c.G636A:p.A212A,;ANNO=splicing:ACTR10
14	58727738	.	C	T	100	PASS	AC=94;STUDIES=7;MAC=94;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PSMA3:NM_002788:exon6:c.C477T:p.Y159Y,PSMA3:NM_152132:exon6:c.C456T:p.Y152Y,;ANNO=splicing:PSMA3
14	58734238	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PSMA3:NM_002788:exon8:c.T590C:p.I197T,PSMA3:NM_152132:exon8:c.T569C:p.I190T,;ANNO=splicing:PSMA3
14	58768299	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARID4A:NM_023000:exon3:c.C8T:p.A3V,ARID4A:NM_023001:exon3:c.C8T:p.A3V,ARID4A:NM_002892:exon3:c.C8T:p.A3V,;ANNO=splicing:ARID4A
14	58832019	.	G	A	100	PASS	AC=94;STUDIES=14;MAC=94;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ARID4A(NM_023001:c.3211+1G>A,NM_002892:c.3211+1G>A,NM_023000:c.3211+1G>A)
14	58979241	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA0586:NM_014749:exon28:c.A4097G:p.Y1366C,;ANNO=splicing:KIAA0586
14	59942585	.	A	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C14orf149(NM_144581:c.939+2T>A)
14	60034964	.	C	T	100	PASS	AC=107;STUDIES=5;MAC=107;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C14orf38:NM_001164399:exon4:c.G490A:p.G164R,;ANNO=splicing:C14orf38
14	60616070	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DHRS7(NM_016029:c.972+1G>A)
14	62014604	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PRKCH:NM_006255:exon13:c.C1905T:p.I635I,;ANNO=splicing:PRKCH
14	63473084	.	T	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KCNH5:NM_172376:exon3:c.A130C:p.R44R,KCNH5:NM_172375:exon3:c.A304C:p.R102R,KCNH5:NM_139318:exon3:c.A304C:p.R102R,;ANNO=splicing:KCNH5
14	64591797	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SYNE2:NM_015180:exon71:c.G13423A:p.V4475I,SYNE2:NM_182914:exon71:c.G13423A:p.V4475I,;ANNO=splicing:SYNE2
14	64591798	.	T	C	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SYNE2:NM_015180:exon71:c.T13424C:p.V4475A,SYNE2:NM_182914:exon71:c.T13424C:p.V4475A,;ANNO=splicing:SYNE2
14	64593317	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SYNE2:NM_015180:exon73:c.C13709T:p.T4570M,SYNE2:NM_182914:exon73:c.C13709T:p.T4570M,;ANNO=splicing:SYNE2
14	64625344	.	T	C	100	PASS	AC=307;STUDIES=21;MAC=307;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SYNE2:NM_015180:exon86:c.T15794C:p.V5265A,SYNE2:NM_182914:exon86:c.T15794C:p.V5265A,;ANNO=splicing:SYNE2
14	64749340	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ESR2(NM_001214902:c.362+2T>C,NM_001040276:c.362+2T>C,NM_001040275:c.362+2T>C,NM_001437:c.362+2T>C,NM_001214903:c.362+2T>C)
14	64896903	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MTHFD1:NM_005956:exon13:c.T1266A:p.G422G,;ANNO=splicing:MTHFD1
14	65035067	.	G	T	100	PASS	AC=23;STUDIES=4;MAC=23;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C14orf50:NM_172365:exon7:c.G435T:p.R145S,;ANNO=splicing:C14orf50
14	65035167	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C14orf50(NM_172365:c.533+2T>C)
14	65250966	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPTB:NM_001024858:exon18:c.C4001T:p.A1334V,SPTB:NM_000347:exon18:c.C4001T:p.A1334V,;ANNO=splicing:SPTB
14	65479035	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FNTB:NM_002028:exon3:c.G210A:p.R70R,CHURC1-FNTB:NM_001202559:exon5:c.G393A:p.R131R,CHURC1-FNTB:NM_001202558:exon4:c.G72A:p.R24R,;ANNO=splicing:CHURC1-FNTB,FNTB
14	68024134	.	A	T	100	PASS	AC=2987;STUDIES=21;MAC=2987;MAF=0.130;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLEKHH1:NM_020715:exon4:c.A338T:p.Q113L,;ANNO=splicing:PLEKHH1
14	68157137	.	A	C	100	PASS	AC=15;STUDIES=8;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RDH11:NM_016026:exon5:c.T456G:p.G152G,;ANNO=splicing:RDH11
14	68272021	.	C	A	100	PASS	AC=74;STUDIES=16;MAC=74;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZFYVE26:NM_015346:exon8:c.G1184T:p.G395V,;ANNO=splicing:ZFYVE26
14	69792680	.	G	A	100	PASS	AC=12;STUDIES=9;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GALNTL1:NM_020692:exon5:c.G504A:p.P168P,GALNTL1:NM_001168368:exon5:c.G504A:p.P168P,;ANNO=splicing:GALNTL1
14	69795168	.	G	A	100	PASS	AC=127;STUDIES=9;MAC=127;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GALNTL1:NM_020692:exon6:c.G570A:p.G190G,GALNTL1:NM_001168368:exon6:c.G570A:p.G190G,;ANNO=splicing:GALNTL1
14	69992838	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLEKHD1:NM_001161498:exon9:c.C922T:p.R308W,;ANNO=splicing:PLEKHD1
14	70245899	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:SLC10A1:NM_003049:exon3:c.G746T:p.R249L,;ANNO=nonsynonymous:SLC10A1:NM_003049:exon3:c.G746A:p.R249Q,;ANNO=splicing:SLC10A1;ANNO=splicing:SLC10A1
14	70245900	.	G	T	100	PASS	AC=92;STUDIES=16;MAC=92;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC10A1:NM_003049:exon3:c.C745A:p.R249R,;ANNO=splicing:SLC10A1
14	70489920	.	G	T	100	PASS	AC=16;STUDIES=8;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SMOC1:NM_001034852:exon11:c.G1047T:p.R349S,SMOC1:NM_022137:exon11:c.G1047T:p.R349S,;ANNO=splicing:SMOC1
14	70522529	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC8A3:NM_033262:exon4:c.G1893A:p.A631A,SLC8A3:NM_058240:exon4:c.G1890A:p.A630A,SLC8A3:NM_183002:exon4:c.G1890A:p.A630A,;ANNO=splicing:SLC8A3
14	70809446	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SYNJ2BP-COX16:NM_001202548:exon4:c.T298C:p.L100L,COX16:NM_016468:exon2:c.T70C:p.L24L,;ANNO=splicing:COX16,SYNJ2BP-COX16
14	70839847	.	A	G	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYNJ2BP-COX16:NM_001202547:exon4:c.T299C:p.L100S,SYNJ2BP:NM_018373:exon4:c.T299C:p.L100S,;ANNO=splicing:SYNJ2BP,SYNJ2BP-COX16
14	70991650	.	A	C	100	PASS	AC=768;STUDIES=8;MAC=768;MAF=0.127;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=splicing:ADAM20
14	71197581	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAP3K9:NM_033141:exon13:c.G2873A:p.G958E,;ANNO=splicing:MAP3K9
14	71199257	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MAP3K9:NM_033141:exon12:c.A2871G:p.A957A,;ANNO=splicing:MAP3K9
14	71462641	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PCNX:NM_014982:exon8:c.T2628A:p.L876L,;ANNO=splicing:PCNX
14	73404680	.	A	C	100	PASS	AC=2303;STUDIES=11;MAC=2303;MAF=0.225;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:DCAF4
14	73409805	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DCAF4(NM_001163508:c.534+1G>A,NM_181340:c.234+1G>A,NM_001163509:c.468+1G>A,NM_015604:c.534+1G>A)
14	73444942	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZFYVE1:NM_178441:exon4:c.G175A:p.A59T,ZFYVE1:NM_021260:exon7:c.G1420A:p.A474T,;ANNO=splicing:ZFYVE1
14	73706541	.	G	A	100	PASS	AC=22;STUDIES=9;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PAPLN(NM_173462:c.54+1G>A)
14	73719484	.	G	A	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PAPLN(NM_173462:c.1013+1G>A)
14	73733432	.	G	T	100	PASS	AC=23;STUDIES=5;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PAPLN:NM_173462:exon24:c.G3312T:p.G1104G,;ANNO=splicing:PAPLN
14	73963383	.	T	C	100	PASS	AC=15544;STUDIES=19;MAC=5234;MAF=0.252;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:HEATR4:NM_203309:exon14:c.A2547G:p.K849K,HEATR4:NM_001220484:exon15:c.A2547G:p.K849K,;ANNO=splicing:HEATR4
14	73973169	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HEATR4(NM_001220484:c.1986+2T>C,NM_203309:c.1986+2T>C)
14	74085939	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACOT6:NM_001037162:exon2:c.T20A:p.V7E,;ANNO=splicing:ACOT6
14	74318547	.	C	G	100	PASS	AC=87;STUDIES=2;MAC=87;MAF=0.045;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:PTGR2
14	74318645	.	G	C	100	PASS	AC=1030;STUDIES=2;MAC=924;MAF=0.473;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:PTGR2
14	74371633	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZNF410:NM_021188:exon7:c.T760A:p.S254T,;ANNO=splicing:ZNF410(NM_001242928:c.172-1G>A)
14	74388908	.	T	C	100	PASS	AC=7992;STUDIES=21;MAC=7992;MAF=0.356;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:ZNF410:NM_021188:exon10:c.T1269C:p.L423L,;ANNO=splicing:ZNF410
14	74401097	.	C	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM161B:NM_152445:exon9:c.G1995T:p.R665S,;ANNO=splicing:FAM161B
14	74416644	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COQ6
14	74453517	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ENTPD5:NM_001249:exon5:c.G297A:p.Q99Q,;ANNO=splicing:ENTPD5
14	74495952	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C14orf45:NM_025057:exon3:c.G351A:p.L117L,;ANNO=splicing:C14orf45
14	74711991	.	G	A	100	PASS	AC=24;STUDIES=3;MAC=24;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:VSX2:NM_182894:exon3:c.G579A:p.Q193Q,;ANNO=splicing:VSX2
14	74753402	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCD4(NM_005050:c.1752+2T>C)
14	74756993	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCD4(NM_005050:c.1327+1G>A)
14	74947404	.	C	T	100	PASS	AC=101;STUDIES=15;MAC=101;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NPC2(NM_006432:c.441+1G>A)
14	74970172	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LTBP2:NM_000428:exon32:c.G4720C:p.E1574Q,;ANNO=splicing:LTBP2
14	75070338	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LTBP2:NM_000428:exon2:c.C565T:p.P189S,;ANNO=splicing:LTBP2
14	75182654	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:FCF1:NM_015962:exon4:c.T144C:p.V48V,;ANNO=splicing:FCF1
14	75269259	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:YLPM1:NM_019589:exon6:c.G4401A:p.R1467R,;ANNO=splicing:YLPM1
14	75323698	.	A	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PROX2:NM_001080408:exon2:c.G733C:p.V245L,;ANNO=splicing:PROX2
14	75352290	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DLST:NM_001933:exon3:c.G99A:p.G33G,;ANNO=splicing:DLST
14	75352336	.	G	A	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:DLST:NM_001933:exon3:c.G145A:p.V49I,;ANNO=splicing:DLST
14	75355799	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:DLST:NM_001933:exon4:c.A148T:p.I50F,;ANNO=splicing:DLST
14	75416256	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PGF:NM_002632:exon3:c.T119C:p.V40A,PGF:NM_001207012:exon3:c.T119C:p.V40A,;ANNO=splicing:PGF
14	75472570	.	G	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EIF2B2:NM_014239:exon5:c.G599T:p.G200V,;ANNO=splicing:EIF2B2
14	75506718	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MLH3:NM_001040108:exon5:c.G3466A:p.V1156I,MLH3:NM_014381:exon5:c.G3466A:p.V1156I,;ANNO=splicing:MLH3
14	75562076	.	A	G	100	PASS	AC=23;STUDIES=7;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NEK9:NM_033116:exon18:c.T2232C:p.T744T,;ANNO=splicing:NEK9
14	75568358	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NEK9(NM_033116:c.1840+2T>C)
14	75573203	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NEK9(NM_033116:c.1528+2T>C)
14	75574047	.	A	G	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NEK9:NM_033116:exon11:c.T1326C:p.T442T,;ANNO=splicing:NEK9
14	75928232	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:JDP2:NM_001135047:exon3:c.G305A:p.R102Q,JDP2:NM_001135048:exon3:c.G305A:p.R102Q,JDP2:NM_130469:exon3:c.G305A:p.R102Q,JDP2:NM_001135049:exon3:c.G338A:p.R113Q,;ANNO=splicing:JDP2
14	76088422	.	C	G	100	PASS	AC=17;STUDIES=4;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FLVCR2:NM_017791:exon2:c.C670G:p.L224V,FLVCR2:NM_001195283:exon2:c.C55G:p.L19V,;ANNO=splicing:FLVCR2
14	76186168	.	C	T	100	PASS	AC=21;STUDIES=11;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TTLL5:NM_015072:exon11:c.C933T:p.T311T,;ANNO=splicing:TTLL5
14	76211439	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TTLL5:NM_015072:exon16:c.G1283A:p.R428H,;ANNO=splicing:TTLL5
14	76438060	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TGFB3:NM_003239:exon2:c.C354T:p.N118N,;ANNO=splicing:TGFB3
14	76543036	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IFT43(NM_052873:c.310+2T>C)
14	77239480	.	G	A	100	PASS	AC=67;STUDIES=8;MAC=67;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VASH1:NM_014909:exon4:c.G456A:p.G152G,;ANNO=splicing:VASH1
14	77244303	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VASH1:NM_014909:exon6:c.T914C:p.I305T,;ANNO=splicing:VASH1
14	77273775	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANGEL1(NM_015305:c.946+1G>A)
14	77310814	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C14orf166B:NM_194287:exon6:c.C644T:p.S215L,;ANNO=splicing:C14orf166B
14	77323818	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C14orf166B:NM_194287:exon10:c.C1104T:p.S368S,;ANNO=splicing:C14orf166B
14	77333782	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C14orf166B(NM_194287:c.1442+1G>A)
14	77705755	.	C	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TMEM63C:NM_020431:exon11:c.C726T:p.H242H,;ANNO=splicing:TMEM63C
14	77746364	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:POMT2:NM_013382:exon17:c.G1785A:p.P595P,;ANNO=splicing:POMT2
14	77787706	.	C	G	100	PASS	AC=235;STUDIES=2;MAC=235;MAF=0.101;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:GSTZ1
14	77791212	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GSTZ1(NM_145871:c.15-1G>T,NM_145870:c.15-1G>T)
14	77843763	.	T	G	100	PASS	AC=55;STUDIES=6;MAC=55;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:SAMD15:NM_001010860:exon1:c.T2A:p.M1K,;ANNO=nonsynonymous:SAMD15:NM_001010860:exon1:c.T2G:p.M1R,;ANNO=splicing:SAMD15;ANNO=splicing:SAMD15
14	77894714	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VIPAR:NM_022067:exon20:c.C1460T:p.S487L,VIPAR:NM_001193314:exon19:c.C1460T:p.S487L,VIPAR:NM_001193317:exon19:c.C1460T:p.S487L,VIPAR:NM_001193315:exon19:c.C1460T:p.S487L,VIPAR:NM_001193316:exon18:c.C1313T:p.S438L,;ANNO=splicing:VIPAR
14	77895437	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:VIPAR:NM_022067:exon19:c.T1268G:p.I423R,VIPAR:NM_001193314:exon18:c.T1268G:p.I423R,VIPAR:NM_001193317:exon18:c.T1268G:p.I423R,VIPAR:NM_001193315:exon18:c.T1268G:p.I423R,VIPAR:NM_001193316:exon17:c.T1121G:p.I374R,;ANNO=splicing:VIPAR
14	77907410	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:VIPAR:NM_022067:exon12:c.C761T:p.A254V,VIPAR:NM_001193314:exon11:c.C761T:p.A254V,VIPAR:NM_001193317:exon11:c.C761T:p.A254V,VIPAR:NM_001193315:exon11:c.C761T:p.A254V,VIPAR:NM_001193316:exon10:c.C614T:p.A205V,;ANNO=splicing:VIPAR
14	77928504	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AHSA1:NM_012111:exon3:c.T273C:p.G91G,;ANNO=splicing:AHSA1
14	78177179	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLIRP(NM_031210:c.97-2A>G)
14	78234796	.	C	T	100	PASS	AC=3586;STUDIES=20;MAC=3586;MAF=0.177;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:C14orf178:NM_174943:exon2:c.C76T:p.H26Y,;ANNO=splicing:C14orf178
14	78234810	.	T	C	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:C14orf178(NM_174943:c.88+2T>C)
14	79181481	.	G	C	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NRXN3:NM_004796:exon5:c.G924C:p.R308S,;ANNO=splicing:NRXN3
14	81025624	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CEP128:NM_152446:exon20:c.C2879T:p.T960M,;ANNO=splicing:CEP128
14	81662584	.	G	C	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GTF2A1:NM_015859:exon6:c.C480G:p.G160G,GTF2A1:NM_201595:exon6:c.C363G:p.G121G,;ANNO=splicing:GTF2A1
14	88452945	.	G	A	100	PASS	AC=824;STUDIES=21;MAC=824;MAF=0.035;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GALC:NM_001201401:exon3:c.C261T:p.D87D,GALC:NM_000153:exon4:c.C330T:p.D110D,GALC:NM_001201402:exon4:c.C252T:p.D84D,;ANNO=splicing:GALC
14	88454550	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GALC:NM_001201401:exon2:c.C197T:p.P66L,GALC:NM_000153:exon3:c.C266T:p.P89L,GALC:NM_001201402:exon3:c.C188T:p.P63L,;ANNO=splicing:GALC
14	88454553	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GALC(NM_001201402:c.186-2A>G,NM_001201401:c.195-2A>G,NM_000153:c.264-2A>G)
14	88693878	.	C	A	100	PASS	AC=39;STUDIES=6;MAC=39;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KCNK10:NM_138317:exon4:c.G522T:p.G174G,KCNK10:NM_021161:exon4:c.G507T:p.G169G,KCNK10:NM_138318:exon4:c.G522T:p.G174G,;ANNO=splicing:KCNK10
14	88971714	.	C	T	100	PASS	AC=26;STUDIES=10;MAC=26;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PTPN21:NM_007039:exon5:c.G450A:p.A150A,;ANNO=splicing:PTPN21
14	88971715	.	G	A	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PTPN21:NM_007039:exon5:c.C449T:p.A150V,;ANNO=splicing:PTPN21
14	89078090	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZC3H14:NM_001160104:exon17:c.G2188A:p.E730K,ZC3H14:NM_001160103:exon17:c.G2203A:p.E735K,ZC3H14:NM_207662:exon7:c.G916A:p.E306K,ZC3H14:NM_207661:exon15:c.G1711A:p.E571K,ZC3H14:NM_207660:exon14:c.G1735A:p.E579K,ZC3H14:NM_024824:exon17:c.G2206A:p.E736K,;ANNO=splicing:ZC3H14
14	89161797	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:EML5:NM_183387:exon16:c.G2346A:p.A782A,;ANNO=splicing:EML5
14	89161798	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EML5:NM_183387:exon16:c.C2345T:p.A782V,;ANNO=splicing:EML5
14	89206732	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EML5:NM_183387:exon5:c.C710T:p.A237V,;ANNO=splicing:EML5
14	89307540	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TTC8:NM_198309:exon4:c.G459A:p.T153T,TTC8:NM_144596:exon5:c.G489A:p.T163T,TTC8:NM_198310:exon4:c.G459A:p.T153T,;ANNO=splicing:TTC8
14	89307769	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TTC8:NM_198309:exon5:c.G460A:p.A154T,TTC8:NM_144596:exon6:c.G490A:p.A164T,;ANNO=splicing:TTC8
14	90442125	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:TDP1:NM_001008744:exon6:c.G757A:p.A253T,TDP1:NM_018319:exon7:c.G757A:p.A253T,;ANNO=nonsynonymous:TDP1:NM_001008744:exon6:c.G757T:p.A253S,TDP1:NM_018319:exon7:c.G757T:p.A253S,;ANNO=splicing:TDP1;ANNO=splicing:TDP1
14	90455434	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TDP1:NM_001008744:exon10:c.G1317T:p.L439F,TDP1:NM_018319:exon11:c.G1317T:p.L439F,;ANNO=splicing:TDP1
14	90485661	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TDP1:NM_001008744:exon14:c.G1543A:p.A515T,TDP1:NM_018319:exon15:c.G1543A:p.A515T,;ANNO=splicing:TDP1
14	90798279	.	T	C	100	PASS	AC=36;STUDIES=2;MAC=36;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:C14orf102
14	91121338	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TTC7B:NM_001010854:exon12:c.C1458T:p.D486D,;ANNO=splicing:TTC7B
14	91341703	.	T	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RPS6KA5:NM_004755:exon15:c.A1838G:p.Y613C,;ANNO=splicing:RPS6KA5
14	91636532	.	C	T	100	PASS	AC=6899;STUDIES=22;MAC=6899;MAF=0.288;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C14orf159:NM_001102368:exon5:c.C443T:p.A148V,;ANNO=splicing:C14orf159(NM_001102366:c.441+2C>T,NM_024952:c.441+2C>T,NM_001102369:c.441+2C>T,NM_001102367:c.441+2C>T)
14	91655253	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C14orf159(NM_001102368:c.934-1G>A,NM_001102366:c.919-1G>A,NM_024952:c.919-1G>A,NM_001102369:c.883-1G>A,NM_001102367:c.919-1G>A)
14	91662720	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C14orf159:NM_001102368:exon10:c.T1197C:p.G399G,C14orf159:NM_001102367:exon11:c.T1182C:p.G394G,C14orf159:NM_024952:exon10:c.T1182C:p.G394G,C14orf159:NM_001102369:exon12:c.T1146C:p.G382G,C14orf159:NM_001102366:exon12:c.T1182C:p.G394G,;ANNO=splicing:C14orf159
14	91666248	.	T	C	100	PASS	AC=616;STUDIES=20;MAC=616;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C14orf159:NM_001102368:exon11:c.T1443C:p.T481T,C14orf159:NM_001102367:exon12:c.T1428C:p.T476T,C14orf159:NM_024952:exon11:c.T1428C:p.T476T,C14orf159:NM_001102369:exon13:c.T1392C:p.T464T,C14orf159:NM_001102366:exon13:c.T1428C:p.T476T,;ANNO=splicing:C14orf159
14	91791124	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CCDC88C:NM_001080414:exon12:c.C1341T:p.D447D,;ANNO=splicing:CCDC88C
14	92054322	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CATSPERB:NM_024764:exon25:c.G3057A:p.K1019K,;ANNO=splicing:CATSPERB
14	92076825	.	G	C	100	PASS	AC=54;STUDIES=11;MAC=54;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;TRIALLELIC;ANNO=nonsynonymous:CATSPERB:NM_024764:exon21:c.C2597T:p.P866L,;ANNO=nonsynonymous:CATSPERB:NM_024764:exon21:c.C2597G:p.P866R,;ANNO=nonsynonymous:CATSPERB:NM_024764:exon21:c.C2597A:p.P866Q,;ANNO=splicing:CATSPERB;ANNO=splicing:CATSPERB;ANNO=splicing:CATSPERB
14	92353655	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FBLN5:NM_006329:exon7:c.T621C:p.D207D,;ANNO=splicing:FBLN5
14	92439059	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRIP11(NM_004239:c.5719+2T>C)
14	92900256	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:SLC24A4:NM_153646:exon3:c.C242T:p.A81V,SLC24A4:NM_153648:exon3:c.C50T:p.A17V,SLC24A4:NM_153647:exon4:c.C242T:p.A81V,;ANNO=splicing:SLC24A4
14	92900257	.	G	A	100	PASS	AC=204;STUDIES=12;MAC=204;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC24A4:NM_153646:exon3:c.G243A:p.A81A,SLC24A4:NM_153648:exon3:c.G51A:p.A17A,SLC24A4:NM_153647:exon4:c.G243A:p.A81A,;ANNO=splicing:SLC24A4
14	92909159	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC24A4:NM_153646:exon6:c.A581C:p.Q194P,SLC24A4:NM_153648:exon6:c.A389C:p.Q130P,SLC24A4:NM_153647:exon7:c.A581C:p.Q194P,;ANNO=splicing:SLC24A4
14	92915559	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC24A4:NM_153646:exon10:c.A879G:p.Q293Q,SLC24A4:NM_153648:exon10:c.A687G:p.Q229Q,;ANNO=splicing:SLC24A4
14	92920412	.	A	G	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC24A4:NM_153646:exon11:c.A1049G:p.E350G,SLC24A4:NM_153648:exon11:c.A857G:p.E286G,SLC24A4:NM_153647:exon12:c.A992G:p.E331G,;ANNO=splicing:SLC24A4
14	92922748	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC24A4:NM_153646:exon12:c.C1051T:p.R351W,SLC24A4:NM_153648:exon12:c.C859T:p.R287W,SLC24A4:NM_153647:exon13:c.C994T:p.R332W,;ANNO=splicing:SLC24A4
14	92958584	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC24A4:NM_153646:exon16:c.C1716T:p.T572T,SLC24A4:NM_153648:exon16:c.C1524T:p.T508T,SLC24A4:NM_153647:exon17:c.C1659T:p.T553T,;ANNO=splicing:SLC24A4
14	93720136	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BTBD7:NM_001002860:exon7:c.A1609G:p.M537V,;ANNO=splicing:BTBD7
14	94173051	.	A	G	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1409:NM_020818:exon50:c.A7178G:p.H2393R,;ANNO=splicing:KIAA1409
14	94423111	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ASB2(NM_016150:c.167+1G>A,NM_001202429:c.311+1G>A)
14	94423112	.	G	A	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ASB2:NM_016150:exon1:c.C167T:p.A56V,ASB2:NM_001202429:exon3:c.C311T:p.A104V,;ANNO=splicing:ASB2
14	94521529	.	A	C	100	PASS	AC=48;STUDIES=4;MAC=48;MAF=0.055;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DDX24:NM_020414:exon7:c.T1991G:p.V664G,;ANNO=splicing:DDX24
14	94567118	.	G	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IFI27L1(NM_206949:c.61+1G>A,NM_145249:c.61+1G>A)
14	94582279	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IFI27:NM_005532:exon4:c.G274C:p.G92R,IFI27:NM_001130080:exon4:c.G270C:p.W90C,;ANNO=splicing:IFI27
14	94731284	.	C	T	100	PASS	AC=78;STUDIES=15;MAC=78;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PPP4R4:NM_058237:exon20:c.C2197T:p.R733C,;ANNO=splicing:PPP4R4
14	94914468	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SERPINA11(NM_001080451:c.643+1G>C)
14	94931042	.	A	G	100	PASS	AC=36;STUDIES=12;MAC=36;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SERPINA9(NM_175739:c.1104+2T>C,NM_001042518:c.804+2T>C)
14	94942472	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SERPINA9(NM_175739:c.37+1G>A,NM_001042518:c.37+1G>A)
14	94953832	.	C	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SERPINA12(NM_173850:c.1053-1G>T)
14	94956104	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SERPINA12:NM_173850:exon5:c.G906A:p.R302R,;ANNO=splicing:SERPINA12
14	94964099	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:SERPINA12(NM_173850:c.634+2T>C)
14	95088677	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SERPINA3(NM_001085:c.917-1G>C)
14	95578510	.	A	G	100	PASS	AC=24;STUDIES=4;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DICER1:NM_001195573:exon12:c.T2115C:p.I705I,DICER1:NM_177438:exon13:c.T2115C:p.I705I,DICER1:NM_030621:exon14:c.T2115C:p.I705I,;ANNO=splicing:DICER1
14	95681979	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CLMN:NM_024734:exon5:c.A416T:p.Q139L,;ANNO=splicing:CLMN
14	95921714	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C14orf49:NM_152592:exon5:c.G1137A:p.S379S,;ANNO=splicing:C14orf49
14	95921715	.	G	A	100	PASS	AC=60;STUDIES=10;MAC=60;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C14orf49:NM_152592:exon5:c.C1136T:p.S379L,;ANNO=splicing:C14orf49
14	96997922	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PAPOLA:NM_032632:exon7:c.C606T:p.N202N,;ANNO=splicing:PAPOLA
14	99182728	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C14orf177(NM_182560:c.199+1G>A)
14	99927530	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SETD3:NM_032233:exon4:c.A344G:p.K115R,SETD3:NM_199123:exon4:c.A344G:p.K115R,;ANNO=splicing:SETD3
14	100129213	.	G	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HHIPL1:NM_032425:exon6:c.G1503T:p.G501G,HHIPL1:NM_001127258:exon6:c.G1503T:p.G501G,;ANNO=splicing:HHIPL1
14	100129357	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HHIPL1:NM_032425:exon6:c.C1647T:p.A549A,HHIPL1:NM_001127258:exon6:c.C1647T:p.A549A,;ANNO=splicing:HHIPL1
14	100134639	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HHIPL1:NM_032425:exon7:c.A1729G:p.S577G,HHIPL1:NM_001127258:exon7:c.A1729G:p.R577G,;ANNO=splicing:HHIPL1
14	100563995	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EVL:NM_016337:exon3:c.G358A:p.G120S,;ANNO=splicing:EVL
14	100792126	.	C	T	100	PASS	AC=4571;STUDIES=22;MAC=4571;MAF=0.191;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC25A47:NM_207117:exon2:c.C30T:p.G10G,;ANNO=splicing:SLC25A47
14	100793708	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:SLC25A47(NM_207117:c.327+1G>A);ANNO=splicing:SLC25A47(NM_207117:c.327+1G>C)
14	101036074	.	C	G	100	PASS	AC=568;STUDIES=2;MAC=568;MAF=0.288;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BEGAIN
14	102467693	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DYNC1H1(NM_001376:c.4395+2C>T)
14	102473346	.	A	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DYNC1H1:NM_001376:exon28:c.A5718C:p.G1906G,;ANNO=splicing:DYNC1H1
14	102507911	.	C	G	100	PASS	AC=99;STUDIES=16;MAC=99;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DYNC1H1:NM_001376:exon65:c.C11942G:p.T3981R,;ANNO=splicing:DYNC1H1
14	102718093	.	C	G	100	PASS	AC=45;STUDIES=6;MAC=45;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RAGE:NM_014226:exon6:c.G411C:p.K137N,;ANNO=splicing:RAGE
14	102718331	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RAGE:NM_014226:exon5:c.G285A:p.G95G,;ANNO=splicing:RAGE
14	102729881	.	A	G	100	PASS	AC=1303;STUDIES=17;MAC=1303;MAF=0.065;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:RAGE(NM_014226:c.283+2T>C)
14	102792323	.	A	C	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ZNF839:NM_018335:exon2:c.A290C:p.Q97P,;ANNO=splicing:ZNF839
14	103177272	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RCOR1:NM_015156:exon7:c.C771T:p.S257S,;ANNO=splicing:RCOR1
14	103369593	.	G	A	100	PASS	AC=13;STUDIES=7;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRAF3:NM_145725:exon11:c.G962A:p.R321Q,TRAF3:NM_145726:exon10:c.G887A:p.R296Q,TRAF3:NM_003300:exon10:c.G962A:p.R321Q,TRAF3:NM_001199427:exon7:c.G713A:p.R238Q,;ANNO=splicing:TRAF3
14	103406064	.	T	C	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CDC42BPB:NM_006035:exon34:c.A4710G:p.R1570R,;ANNO=splicing:CDC42BPB
14	103576369	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EXOC3L4:NM_001077594:exon11:c.C1978T:p.R660W,;ANNO=splicing:EXOC3L4
14	104000888	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TRMT61A:NM_152307:exon4:c.C600T:p.G200G,;ANNO=splicing:TRMT61A
14	105054085	.	G	A	100	PASS	AC=24;STUDIES=2;MAC=24;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C14orf180(NM_001008404:c.111-1G>A)
14	105175958	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:INF2:NM_022489:exon12:c.T2054C:p.I685T,INF2:NM_001031714:exon12:c.T2054C:p.I685T,;ANNO=splicing:INF2
14	105177417	.	G	C	100	PASS	AC=32;STUDIES=2;MAC=32;MAF=0.276;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:INF2:NM_022489:exon15:c.G2312C:p.G771A,INF2:NM_001031714:exon15:c.G2312C:p.G771A,;ANNO=splicing:INF2
14	105207580	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADSSL1:NM_199165:exon8:c.G922A:p.G308R,ADSSL1:NM_152328:exon8:c.G793A:p.G265R,;ANNO=splicing:ADSSL1
14	105209528	.	C	T	100	PASS	AC=28;STUDIES=4;MAC=28;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADSSL1:NM_199165:exon10:c.C1202T:p.A401V,ADSSL1:NM_152328:exon10:c.C1073T:p.A358V,;ANNO=splicing:ADSSL1
14	105460933	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C14orf79(NM_174891:c.816-2A>G)
14	105614224	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:JAG2:NM_145159:exon17:c.C2136G:p.A712A,JAG2:NM_002226:exon18:c.C2250G:p.A750A,;ANNO=splicing:JAG2
14	105617440	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=synonymous:JAG2:NM_002226:exon10:c.C1269T:p.D423D,;ANNO=nonsynonymous:JAG2:NM_002226:exon10:c.C1269A:p.D423E,;ANNO=splicing:JAG2;ANNO=splicing:JAG2
14	105695249	.	C	T	100	PASS	AC=30;STUDIES=12;MAC=30;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BRF1:NM_145685:exon3:c.G84A:p.A28A,BRF1:NM_001519:exon7:c.G696A:p.A232A,;ANNO=splicing:BRF1
14	105857969	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PACS2:NM_001100913:exon21:c.C2088T:p.G696G,PACS2:NM_015197:exon21:c.C2076T:p.G692G,;ANNO=splicing:PACS2
14	105930483	.	C	T	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MTA1:NM_001203258:exon13:c.C1191T:p.Y397Y,MTA1:NM_004689:exon13:c.C1191T:p.Y397Y,;ANNO=splicing:MTA1
15	22851110	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TUBGCP5(NM_001102610:c.1371+1G>A,NM_052903:c.1371+1G>A)
15	22864369	.	G	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TUBGCP5:NM_052903:exon16:c.G2327A:p.R776H,TUBGCP5:NM_001102610:exon16:c.G2327A:p.R776H,;ANNO=splicing:TUBGCP5
15	25221563	.	T	C	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SNRPN:NM_022807:exon9:c.T267C:p.D89D,SNRPN:NM_022806:exon8:c.T267C:p.D89D,SNRPN:NM_022805:exon8:c.T267C:p.D89D,SNRPN:NM_022808:exon8:c.T267C:p.D89D,SNRPN:NM_003097:exon6:c.T267C:p.D89D,;ANNO=splicing:SNRPN,SNURF
15	25959388	.	C	T	100	PASS	AC=51;STUDIES=3;MAC=51;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATP10A:NM_024490:exon10:c.G1777A:p.V593M,;ANNO=splicing:ATP10A
15	25963545	.	C	A	100	PASS	AC=27;STUDIES=6;MAC=27;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ATP10A:NM_024490:exon8:c.G1365T:p.A455A,;ANNO=splicing:ATP10A
15	28197037	.	T	C	100	PASS	AC=434;STUDIES=10;MAC=434;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:OCA2:NM_000275:exon18:c.A1844G:p.H615R,;ANNO=splicing:OCA2
15	28200361	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OCA2:NM_000275:exon17:c.A1785T:p.R595S,;ANNO=splicing:OCA2
15	28230210	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OCA2:NM_000275:exon13:c.G1364A:p.R455K,;ANNO=splicing:OCA2
15	28230211	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OCA2:NM_000275:exon13:c.A1363G:p.R455G,;ANNO=splicing:OCA2
15	28326795	.	T	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OCA2:NM_000275:exon2:c.A226T:p.R76W,;ANNO=splicing:OCA2
15	28386775	.	G	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:HERC2:NM_004667:exon78:c.C11818A:p.R3940R,;ANNO=splicing:HERC2
15	28414800	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:HERC2:NM_004667:exon66:c.C10059T:p.G3353G,;ANNO=splicing:HERC2
15	28427657	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HERC2:NM_004667:exon57:c.C8827T:p.L2943F,;ANNO=splicing:HERC2
15	28517361	.	G	A	100	PASS	AC=40;STUDIES=5;MAC=40;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=synonymous:HERC2:NM_004667:exon9:c.C1083T:p.H361H,;ANNO=splicing:HERC2
15	28519592	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HERC2:NM_004667:exon7:c.C645T:p.G215G,;ANNO=splicing:HERC2
15	29347037	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:APBA2:NM_005503:exon3:c.A950G:p.Q317R,APBA2:NM_001130414:exon3:c.A950G:p.Q317R,;ANNO=splicing:APBA2
15	29416890	.	C	G	100	PASS	AC=39;STUDIES=4;MAC=39;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM189A1:NM_015307:exon10:c.G1303C:p.A435P,;ANNO=splicing:FAM189A1
15	30053488	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:TJP1:NM_175610:exon8:c.C864T:p.D288D,TJP1:NM_003257:exon8:c.C864T:p.D288D,;ANNO=nonsynonymous:TJP1:NM_175610:exon8:c.C864G:p.D288E,TJP1:NM_003257:exon8:c.C864G:p.D288E,;ANNO=splicing:TJP1;ANNO=splicing:TJP1
15	30053805	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TJP1:NM_175610:exon7:c.C861T:p.D287D,TJP1:NM_003257:exon7:c.C861T:p.D287D,;ANNO=splicing:TJP1
15	30665181	.	C	T	100	PASS	AC=47;STUDIES=4;MAC=47;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CHRFAM7A:NM_139320:exon6:c.G328A:p.G110R,CHRFAM7A:NM_148911:exon5:c.G55A:p.G19R,;ANNO=splicing:CHRFAM7A
15	31214557	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FAN1:NM_014967:exon8:c.G2172A:p.P724P,;ANNO=splicing:FAN1
15	31229463	.	G	A	100	PASS	AC=125;STUDIES=4;MAC=125;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAN1(NM_014967:c.3057+1G>A)
15	31251154	.	G	C	100	PASS	AC=23;STUDIES=5;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MTMR10:NM_017762:exon9:c.C847G:p.L283V,;ANNO=splicing:MTMR10
15	31319119	.	C	T	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TRPM1:NM_002420:exon25:c.G3429A:p.L1143L,;ANNO=splicing:TRPM1
15	31323186	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRPM1:NM_002420:exon22:c.C3061T:p.L1021F,;ANNO=splicing:TRPM1
15	31323360	.	T	G	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRPM1:NM_002420:exon22:c.A2887C:p.M963L,;ANNO=splicing:TRPM1
15	31341712	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRPM1:NM_002420:exon12:c.G1372T:p.V458L,;ANNO=splicing:TRPM1
15	31354782	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TRPM1:NM_002420:exon8:c.C1023T:p.L341L,;ANNO=splicing:TRPM1
15	31355321	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRPM1:NM_002420:exon7:c.G899A:p.G300E,;ANNO=splicing:TRPM1
15	31360294	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRPM1:NM_002420:exon4:c.A215G:p.Y72C,;ANNO=splicing:TRPM1
15	32917689	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ARHGAP11A:NM_199357:exon6:c.G717T:p.G239G,ARHGAP11A:NM_014783:exon6:c.G717T:p.G239G,;ANNO=splicing:ARHGAP11A
15	33358712	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FMN1:NM_001103184:exon1:c.T1374C:p.S458S,;ANNO=splicing:FMN1
15	33855211	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RYR3:NM_001036:exon11:c.G1146A:p.K382K,;ANNO=splicing:RYR3
15	33872177	.	C	T	100	PASS	AC=12986;STUDIES=19;MAC=5046;MAF=0.280;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:RYR3:NM_001036:exon13:c.C1269T:p.S423S,;ANNO=splicing:RYR3
15	34102850	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RYR3:NM_001036:exon71:c.T10197C:p.H3399H,;ANNO=splicing:RYR3
15	34295234	.	T	C	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AVEN:NM_020371:exon2:c.A444G:p.A148A,;ANNO=splicing:AVEN
15	34547592	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC12A6:NM_001042497:exon6:c.T702C:p.A234A,SLC12A6:NM_001042494:exon8:c.T570C:p.A190A,SLC12A6:NM_005135:exon7:c.T594C:p.A198A,SLC12A6:NM_001042495:exon8:c.T570C:p.A190A,SLC12A6:NM_001042496:exon8:c.T720C:p.A240A,SLC12A6:NM_133647:exon7:c.T747C:p.A249A,;ANNO=splicing:SLC12A6
15	34553220	.	G	A	100	PASS	AC=71;STUDIES=6;MAC=71;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC12A6:NM_001042497:exon2:c.C273T:p.D91D,SLC12A6:NM_001042494:exon4:c.C141T:p.D47D,SLC12A6:NM_005135:exon3:c.C165T:p.D55D,SLC12A6:NM_001042495:exon4:c.C141T:p.D47D,SLC12A6:NM_001042496:exon4:c.C291T:p.D97D,SLC12A6:NM_133647:exon3:c.C318T:p.D106D,;ANNO=splicing:SLC12A6
15	35189761	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AQR:NM_014691:exon21:c.C2389T:p.R797C,;ANNO=splicing:AQR
15	35834615	.	T	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ATPBD4:NM_080650:exon2:c.A117G:p.Q39Q,ATPBD4:NM_001141972:exon2:c.A117G:p.Q39Q,;ANNO=splicing:ATPBD4
15	37100525	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C15orf41:NM_001130010:exon11:c.A717G:p.R239R,C15orf41:NM_032499:exon11:c.A423G:p.R141R,;ANNO=splicing:C15orf41
15	38239858	.	G	A	100	PASS	AC=198;STUDIES=10;MAC=198;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMCO5A:NM_152453:exon10:c.G629A:p.G210D,;ANNO=splicing:TMCO5A
15	38757603	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FAM98B:NM_173611:exon3:c.A351G:p.L117L,FAM98B:NM_001042429:exon3:c.A351G:p.L117L,;ANNO=splicing:FAM98B
15	39879549	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:THBS1:NM_003246:exon8:c.C1122T:p.P374P,;ANNO=splicing:THBS1
15	39885869	.	G	C	100	PASS	AC=33;STUDIES=11;MAC=33;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:THBS1:NM_003246:exon19:c.G3267C:p.Q1089H,;ANNO=splicing:THBS1
15	40034007	.	T	G	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FSIP1:NM_152597:exon6:c.A654C:p.K218N,;ANNO=splicing:FSIP1
15	40253986	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:EIF2AK4:NM_001013703:exon7:c.C745T:p.R249X,;ANNO=splicing:EIF2AK4
15	40396444	.	C	T	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BMF:NM_001003942:exon2:c.G390A:p.E130E,BMF:NM_033503:exon3:c.G390A:p.E130E,BMF:NM_001003940:exon4:c.G390A:p.E130E,;ANNO=splicing:BMF
15	40494791	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BUB1B:NM_001211:exon14:c.C1630T:p.P544S,;ANNO=splicing:BUB1B
15	40556983	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:PAK6
15	40585126	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLCB2(NM_004573:c.2326+1G>A)
15	40586468	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLCB2:NM_004573:exon19:c.C2060T:p.T687M,;ANNO=splicing:PLCB2
15	40594471	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLCB2:NM_004573:exon5:c.T452C:p.I151T,;ANNO=splicing:PLCB2
15	40655827	.	A	G	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DISP2:NM_033510:exon2:c.A121G:p.T41A,;ANNO=splicing:DISP2
15	40705285	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IVD:NM_002225:exon7:c.T792G:p.P264P,IVD:NM_001159508:exon6:c.T702G:p.P234P,;ANNO=splicing:IVD
15	40708277	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:IVD:NM_002225:exon10:c.T970C:p.L324L,IVD:NM_001159508:exon9:c.T880C:p.L294L,;ANNO=splicing:IVD
15	40856965	.	A	G	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C15orf57:NM_001080791:exon1:c.T15C:p.G5G,;ANNO=splicing:C15orf57
15	40856989	.	C	T	100	PASS	AC=11632;STUDIES=13;MAC=1106;MAF=0.087;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:C15orf57
15	40990956	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:RAD51
15	41029923	.	A	C	100	PASS	AC=71;STUDIES=3;MAC=71;MAF=0.126;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:FAM82A2:NM_018145:exon10:c.T1127G:p.V376G,;ANNO=splicing:FAM82A2
15	41102413	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZFYVE19:NM_001077268:exon5:c.C716T:p.P239L,;ANNO=splicing:ZFYVE19
15	41146721	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPINT1(NM_003710:c.1066+1G>A,NM_181642:c.1114+1G>A,NM_001032367:c.1066+1G>A)
15	41227314	.	C	T	100	PASS	AC=290;STUDIES=19;MAC=290;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DLL4:NM_019074:exon8:c.C1239T:p.N413N,;ANNO=splicing:DLL4
15	41483640	.	C	T	100	PASS	AC=343;STUDIES=13;MAC=343;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=synonymous:EXD1:NM_152596:exon8:c.G690A:p.Q230Q,;ANNO=splicing:EXD1
15	41509353	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EXD1(NM_152596:c.28-1G>A)
15	41522678	.	A	G	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EXD1:NM_152596:exon1:c.T27C:p.Y9Y,;ANNO=splicing:EXD1
15	41797170	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LTK:NM_002344:exon16:c.G2018A:p.R673Q,LTK:NM_001135685:exon14:c.G1628A:p.R543Q,LTK:NM_206961:exon15:c.G1835A:p.R612Q,;ANNO=splicing:LTK
15	41814296	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RPAP1:NM_015540:exon20:c.G2895A:p.A965A,;ANNO=splicing:RPAP1
15	41814297	.	G	A	100	PASS	AC=47;STUDIES=8;MAC=47;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RPAP1:NM_015540:exon20:c.C2894T:p.A965V,;ANNO=splicing:RPAP1
15	41862356	.	T	C	100	PASS	AC=15;STUDIES=3;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TYRO3(NM_006293:c.1382+2T>C)
15	41862540	.	T	G	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TYRO3(NM_006293:c.1483+2T>G)
15	41862801	.	G	T	100	PASS	AC=74;STUDIES=3;MAC=74;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TYRO3(NM_006293:c.1483-1G>T)
15	41864763	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TYRO3(NM_006293:c.1875+1G>A)
15	41865505	.	G	T	100	PASS	AC=259;STUDIES=5;MAC=259;MAF=0.043;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:TYRO3(NM_006293:c.1985-1G>T)
15	42114423	.	A	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MAPKBP1:NM_014994:exon26:c.A3032C:p.D1011A,MAPKBP1:NM_001128608:exon27:c.A3050C:p.D1017A,;ANNO=splicing:MAPKBP1
15	42126939	.	G	T	100	PASS	AC=19;STUDIES=10;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:JMJD7-PLA2G4B:NM_005090:exon2:c.G66T:p.E22D,JMJD7:NM_001114632:exon2:c.G66T:p.E22D,JMJD7-PLA2G4B:NM_001198588:exon2:c.G66T:p.E22D,;ANNO=splicing:JMJD7,JMJD7-PLA2G4B
15	42127420	.	G	T	100	PASS	AC=52;STUDIES=6;MAC=52;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:JMJD7-PLA2G4B:NM_005090:exon3:c.G471T:p.L157L,JMJD7:NM_001114632:exon3:c.G471T:p.L157L,JMJD7-PLA2G4B:NM_001198588:exon3:c.G471T:p.L157L,;ANNO=splicing:JMJD7,JMJD7-PLA2G4B
15	42148796	.	T	A	100	PASS	AC=84;STUDIES=16;MAC=84;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:SPTBN5:NM_016642:exon53:c.A8704T:p.N2902Y,;ANNO=splicing:SPTBN5
15	42150801	.	C	T	100	PASS	AC=213;STUDIES=16;MAC=213;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPTBN5:NM_016642:exon49:c.G8120A:p.R2707Q,;ANNO=splicing:SPTBN5
15	42153617	.	C	T	100	PASS	AC=22;STUDIES=7;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:SPTBN5:NM_016642:exon46:c.G7710A:p.W2570X,;ANNO=splicing:SPTBN5
15	42154738	.	G	A	100	PASS	AC=1911;STUDIES=17;MAC=1911;MAF=0.114;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:SPTBN5:NM_016642:exon43:c.C7279T:p.R2427W,;ANNO=splicing:SPTBN5
15	42165808	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPTBN5(NM_016642:c.4785-2A>G)
15	42169007	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPTBN5:NM_016642:exon19:c.C3746G:p.T1249R,;ANNO=splicing:SPTBN5
15	42289456	.	G	C	100	PASS	AC=41;STUDIES=4;MAC=41;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:PLA2G4E:NM_001206670:exon11:c.C976G:p.P326A,;ANNO=splicing:PLA2G4E
15	42375978	.	C	T	100	PASS	AC=159;STUDIES=11;MAC=159;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLA2G4D(NM_178034:c.471-1G>A)
15	42379898	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLA2G4D:NM_178034:exon2:c.G46C:p.G16R,;ANNO=splicing:PLA2G4D
15	42379900	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLA2G4D(NM_178034:c.45-2A>G)
15	42434727	.	T	C	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLA2G4F:NM_213600:exon19:c.A2328G:p.P776P,;ANNO=splicing:PLA2G4F
15	42511841	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM87A(NM_015497:c.1477-1G>A)
15	42511842	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM87A(NM_015497:c.1477-2A>G)
15	42568547	.	C	G	100	PASS	AC=23935;STUDIES=22;MAC=349;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GANC:NM_198141:exon2:c.C31G:p.L11V,;ANNO=splicing:GANC
15	42600418	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GANC(NM_198141:c.625-2A>G)
15	42640302	.	T	A	100	PASS	AC=38;STUDIES=7;MAC=38;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GANC:NM_198141:exon21:c.T2306A:p.I769N,;ANNO=splicing:GANC
15	42644226	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GANC(NM_198141:c.2635-2A>G)
15	42652311	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CAPN3:NM_024344:exon1:c.C308T:p.P103L,CAPN3:NM_173087:exon1:c.C308T:p.P103L,CAPN3:NM_000070:exon1:c.C308T:p.P103L,;ANNO=splicing:CAPN3
15	42702042	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CAPN3:NM_173089:exon3:c.C55T:p.H19Y,CAPN3:NM_024344:exon17:c.C2032T:p.H678Y,CAPN3:NM_173090:exon4:c.C55T:p.H19Y,CAPN3:NM_173088:exon7:c.C514T:p.H172Y,CAPN3:NM_173087:exon15:c.C1774T:p.H592Y,CAPN3:NM_000070:exon18:c.C2050T:p.H684Y,;ANNO=splicing:CAPN3
15	42820617	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SNAP23:NM_003825:exon6:c.C424T:p.R142C,;ANNO=splicing:SNAP23
15	43020231	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CDAN1:NM_138477:exon22:c.G2869A:p.V957I,;ANNO=splicing:CDAN1
15	43020402	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CDAN1:NM_138477:exon21:c.C2868T:p.A956A,;ANNO=splicing:CDAN1
15	43021767	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CDAN1:NM_138477:exon17:c.C2406T:p.I802I,;ANNO=splicing:CDAN1
15	43022797	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CDAN1:NM_138477:exon14:c.C2173T:p.R725W,;ANNO=splicing:CDAN1
15	43250212	.	T	C	100	PASS	AC=138;STUDIES=17;MAC=138;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UBR1:NM_174916:exon44:c.A4834G:p.R1612G,;ANNO=splicing:UBR1
15	43473379	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TMEM62:NM_024956:exon13:c.G1487T:p.G496V,;ANNO=splicing:TMEM62
15	43494043	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EPB42:NM_001114134:exon12:c.A1912G:p.R638G,EPB42:NM_000119:exon12:c.A2002G:p.R668G,;ANNO=splicing:EPB42
15	43527126	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TGM5:NM_004245:exon10:c.A1470G:p.A490A,TGM5:NM_201631:exon11:c.A1716G:p.A572A,;ANNO=splicing:TGM5
15	43531362	.	G	A	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TGM5:NM_004245:exon7:c.C858T:p.N286N,TGM5:NM_201631:exon8:c.C1104T:p.N368N,;ANNO=splicing:TGM5
15	43569193	.	C	T	100	PASS	AC=137;STUDIES=15;MAC=137;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TGM7:NM_052955:exon12:c.G1840A:p.V614M,;ANNO=splicing:TGM7
15	43579738	.	C	T	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:TGM7(NM_052955:c.687+1G>A)
15	43579740	.	A	G	100	PASS	AC=132;STUDIES=6;MAC=132;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TGM7:NM_052955:exon5:c.T686C:p.M229T,;ANNO=splicing:TGM7
15	43632549	.	T	C	100	PASS	AC=7400;STUDIES=18;MAC=7400;MAF=0.390;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=4;ANNO=synonymous:ADAL:NM_001159280:exon7:c.T342C:p.T114T,ADAL:NM_001012969:exon6:c.T342C:p.T114T,;ANNO=splicing:ADAL
15	43767763	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TP53BP1:NM_005657:exon9:c.C1070T:p.T357M,TP53BP1:NM_001141979:exon9:c.C1085T:p.T362M,TP53BP1:NM_001141980:exon9:c.C1085T:p.T362M,;ANNO=splicing:TP53BP1
15	43925134	.	T	A	100	PASS	AC=3207;STUDIES=6;MAC=3207;MAF=0.370;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;HWE_FAILURES=1;ANNO=splicing:CATSPER2(NM_172095:c.1178-2A>T)
15	43927924	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CATSPER2(NM_172095:c.1121+1G>A,NM_054020:c.1121+1G>A)
15	43931102	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CATSPER2:NM_054020:exon7:c.C842T:p.S281L,CATSPER2:NM_172095:exon7:c.C842T:p.S281L,;ANNO=splicing:CATSPER2
15	44068742	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ELL3:NM_025165:exon2:c.G133A:p.V45I,;ANNO=splicing:ELL3
15	44087935	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SERINC4(NM_001033517:c.408-1G>A)
15	44093909	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C15orf63:NM_016400:exon4:c.A295G:p.M99V,C15orf63:NM_001199885:exon3:c.A239G:p.N80S,;ANNO=splicing:C15orf63
15	44855500	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPG11(NM_025137:c.7151-1G>C,NM_001160227:c.6812-1G>C)
15	44877834	.	C	A	100	PASS	AC=21;STUDIES=10;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPG11:NM_025137:exon29:c.G5121T:p.E1707D,SPG11:NM_001160227:exon29:c.G5121T:p.E1707D,;ANNO=splicing:SPG11
15	44907562	.	T	C	100	PASS	AC=278;STUDIES=18;MAC=278;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPG11:NM_025137:exon16:c.A3037G:p.K1013E,SPG11:NM_001160227:exon16:c.A3037G:p.K1013E,;ANNO=splicing:SPG11
15	44914544	.	A	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPG11:NM_025137:exon13:c.T2318G:p.V773G,SPG11:NM_001160227:exon13:c.T2318G:p.V773G,;ANNO=splicing:SPG11
15	44951501	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPG11:NM_025137:exon3:c.G443A:p.S148N,SPG11:NM_001160227:exon3:c.G443A:p.S148N,;ANNO=splicing:SPG11
15	45047573	.	C	T	100	PASS	AC=19484;STUDIES=22;MAC=4712;MAF=0.195;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRIM69:NM_182985:exon2:c.C482T:p.T161M,;ANNO=splicing:TRIM69
15	45250709	.	A	C	100	PASS	AC=16;STUDIES=7;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:C15orf43:NM_152448:exon3:c.A285C:p.K95N,;ANNO=splicing:C15orf43
15	45258441	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C15orf43:NM_152448:exon5:c.G434T:p.S145I,;ANNO=splicing:C15orf43
15	45389434	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DUOX2(NM_014080:c.3847+2T>C)
15	45396158	.	C	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DUOX2:NM_014080:exon20:c.G2654T:p.R885L,;ANNO=splicing:DUOX2
15	45396563	.	C	T	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:DUOX2:NM_014080:exon19:c.G2335A:p.V779M,;ANNO=splicing:DUOX2
15	45399169	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DUOX2(NM_014080:c.1693-2A>T)
15	45401722	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DUOX2:NM_014080:exon11:c.G1234A:p.D412N,;ANNO=splicing:DUOX2
15	45403967	.	A	G	100	PASS	AC=45;STUDIES=6;MAC=45;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:DUOX2:NM_014080:exon5:c.T512C:p.L171P,;ANNO=splicing:DUOX2
15	45408056	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DUOXA2(NM_207581:c.205+2T>C)
15	45427488	.	C	T	100	PASS	AC=39;STUDIES=5;MAC=39;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:DUOX1:NM_017434:exon6:c.C494T:p.P165L,DUOX1:NM_175940:exon5:c.C494T:p.P165L,;ANNO=splicing:DUOX1
15	45433491	.	C	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:DUOX1:NM_017434:exon15:c.C1567G:p.L523V,DUOX1:NM_175940:exon14:c.C1567G:p.L523V,;ANNO=splicing:DUOX1
15	45434309	.	G	A	100	PASS	AC=41;STUDIES=4;MAC=41;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DUOX1:NM_017434:exon16:c.G1821A:p.L607L,DUOX1:NM_175940:exon15:c.G1821A:p.L607L,;ANNO=splicing:DUOX1
15	45470364	.	G	A	100	PASS	AC=8;STUDIES=7;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SHF:NM_138356:exon3:c.C444T:p.A148A,;ANNO=splicing:SHF
15	45490971	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:SHF:NM_138356:exon2:c.C302T:p.P101L,;ANNO=splicing:SHF
15	45554214	.	A	C	100	PASS	AC=15;STUDIES=10;MAC=15;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC28A2:NM_004212:exon4:c.A172C:p.R58R,;ANNO=splicing:SLC28A2
15	45656996	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GATM:NM_001482:exon7:c.C1041T:p.D347D,;ANNO=splicing:GATM
15	45710756	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPATA5L1:NM_024063:exon7:c.G1970A:p.G657D,;ANNO=splicing:SPATA5L1
15	45723032	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C15orf48(NM_197955:c.36+2T>G,NM_032413:c.36+2T>G)
15	48444430	.	C	A	100	PASS	AC=57;STUDIES=13;MAC=57;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYEF2(NM_016132:c.1138+1G>T)
15	48527075	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC12A1:NM_001184832:exon9:c.A1089G:p.A363A,SLC12A1:NM_000338:exon9:c.A1089G:p.A363A,;ANNO=splicing:SLC12A1
15	48580713	.	T	C	100	PASS	AC=20836;STUDIES=20;MAC=54;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC12A1:NM_001184832:exon23:c.T2873C:p.V958A,SLC12A1:NM_000338:exon23:c.T2873C:p.V958A,;ANNO=splicing:SLC12A1
15	49033797	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEP152(NM_014985:c.3925+1G>T,NM_001194998:c.4093+1G>T)
15	49064889	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEP152(NM_014985:c.1577-1G>A,NM_001194998:c.1577-1G>A)
15	49088357	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CEP152:NM_001194998:exon6:c.G541C:p.G181R,CEP152:NM_014985:exon6:c.G541C:p.G181R,;ANNO=splicing:CEP152
15	49160014	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SHC4(NM_203349:c.946+1G>A)
15	49509510	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GALK2:NM_002044:exon3:c.C266T:p.P89L,GALK2:NM_001001556:exon3:c.C233T:p.P78L,;ANNO=splicing:GALK2
15	49907319	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C15orf33:NM_152647:exon2:c.G50T:p.G17V,;ANNO=splicing:C15orf33
15	50223504	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATP8B4:NM_024837:exon16:c.G1454A:p.G485E,;ANNO=splicing:ATP8B4
15	50366324	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ATP8B4:NM_024837:exon3:c.G87T:p.A29A,;ANNO=splicing:ATP8B4
15	50593417	.	C	A	100	PASS	AC=57;STUDIES=13;MAC=57;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GABPB1(NM_005254:c.619+1G>T,NM_002041:c.619+1G>T)
15	50881789	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TRPM7:NM_017672:exon27:c.C4389T:p.S1463S,;ANNO=splicing:TRPM7
15	50931745	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRPM7:NM_017672:exon6:c.G536T:p.G179V,;ANNO=splicing:TRPM7
15	51028841	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:SPPL2A:NM_032802:exon7:c.C830T:p.T277M,;ANNO=nonsynonymous:SPPL2A:NM_032802:exon7:c.C830A:p.T277K,;ANNO=splicing:SPPL2A;ANNO=splicing:SPPL2A
15	51260460	.	G	A	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AP4E1:NM_007347:exon15:c.G1852A:p.V618I,;ANNO=splicing:AP4E1
15	51397202	.	C	G	100	PASS	AC=115;STUDIES=16;MAC=115;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TNFAIP8L3:NM_207381:exon1:c.G172C:p.A58P,;ANNO=splicing:TNFAIP8L3
15	51689665	.	A	C	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GLDN(NM_181789:c.688-2A>C)
15	51693940	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GLDN:NM_181789:exon9:c.G1178A:p.R393K,;ANNO=splicing:GLDN
15	51770466	.	A	C	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DMXL2(NM_015263:c.6833+2T>G,NM_001174116:c.6833+2T>G,NM_001174117:c.4925+2T>G)
15	52483565	.	A	G	100	PASS	AC=1283;STUDIES=2;MAC=691;MAF=0.350;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:GNB5
15	52510715	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYO5C(NM_018728:c.3954+1G>A)
15	52510884	.	C	G	100	PASS	AC=136;STUDIES=10;MAC=136;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYO5C:NM_018728:exon32:c.G3786C:p.K1262N,;ANNO=splicing:MYO5C
15	52517099	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYO5C:NM_018728:exon28:c.C3445T:p.R1149C,;ANNO=splicing:MYO5C
15	52517178	.	C	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYO5C:NM_018728:exon28:c.G3366C:p.R1122S,;ANNO=splicing:MYO5C
15	52574980	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO5C:NM_018728:exon2:c.C137T:p.T46M,;ANNO=splicing:MYO5C
15	52622548	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYO5A(NM_001142495:c.4399+2C>T,NM_000259:c.4480+2C>T)
15	52635394	.	T	A	100	PASS	AC=862;STUDIES=21;MAC=862;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYO5A:NM_000259:exon31:c.A3960T:p.R1320S,;ANNO=splicing:MYO5A
15	52652166	.	T	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYO5A:NM_000259:exon25:c.A3422T:p.E1141V,MYO5A:NM_001142495:exon25:c.A3422T:p.E1141V,;ANNO=splicing:MYO5A
15	52903772	.	T	C	100	PASS	AC=2014;STUDIES=21;MAC=2014;MAF=0.089;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1370:NM_019600:exon4:c.A404G:p.Q135R,;ANNO=splicing:KIAA1370
15	54847711	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UNC13C(NM_001080534:c.5958+1G>A)
15	55485030	.	A	G	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:RSL24D1:NM_016304:exon2:c.T83C:p.V28A,;ANNO=splicing:RSL24D1
15	55789910	.	C	T	100	PASS	AC=1191;STUDIES=21;MAC=1191;MAF=0.051;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DYX1C1:NM_001033559:exon3:c.G271A:p.V91I,DYX1C1:NM_130810:exon3:c.G271A:p.V91I,DYX1C1:NM_001033560:exon3:c.G271A:p.V91I,;ANNO=splicing:DYX1C1
15	55790405	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DYX1C1:NM_001033559:exon2:c.G123A:p.K41K,DYX1C1:NM_130810:exon2:c.G123A:p.K41K,DYX1C1:NM_001033560:exon2:c.G123A:p.K41K,;ANNO=splicing:DYX1C1
15	55881002	.	C	T	100	PASS	AC=43;STUDIES=15;MAC=43;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PYGO1:NM_015617:exon1:c.G49A:p.G17S,;ANNO=splicing:PYGO1
15	55964644	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PRTG:NM_173814:exon11:c.A2040G:p.L680L,;ANNO=splicing:PRTG
15	56676229	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TEX9:NM_198524:exon4:c.G263A:p.R88K,;ANNO=splicing:TEX9
15	56687032	.	G	C	100	PASS	AC=21;STUDIES=6;MAC=21;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TEX9:NM_198524:exon9:c.G828C:p.R276S,;ANNO=splicing:TEX9
15	56719803	.	G	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TEX9:NM_198524:exon11:c.G964T:p.D322Y,;ANNO=splicing:TEX9
15	57511788	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TCF12:NM_207040:exon1:c.G69A:p.T23T,;ANNO=splicing:TCF12
15	57754089	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CGNL1:NM_032866:exon8:c.A2402G:p.K801R,;ANNO=splicing:CGNL1
15	57837791	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CGNL1:NM_032866:exon17:c.G3502T:p.D1168Y,;ANNO=splicing:CGNL1
15	57918090	.	A	G	100	PASS	AC=23610;STUDIES=20;MAC=0;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GCOM1:NM_152451:exon5:c.A525G:p.Q175Q,GCOM1:NM_001018100:exon5:c.A525G:p.Q175Q,GCOM1:NM_001018091:exon5:c.A525G:p.Q175Q,GCOM1:NM_001018090:exon5:c.A525G:p.Q175Q,;ANNO=splicing:GCOM1
15	57953648	.	A	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:GCOM1:NM_001018100:exon11:c.A1120C:p.I374L,GCOM1:NM_001018091:exon11:c.A1120C:p.I374L,GCOM1:NM_001018090:exon11:c.A1120C:p.I374L,;ANNO=nonsynonymous:GCOM1:NM_001018100:exon11:c.A1120T:p.I374F,GCOM1:NM_001018091:exon11:c.A1120T:p.I374F,GCOM1:NM_001018090:exon11:c.A1120T:p.I374F,;ANNO=splicing:GCOM1;ANNO=splicing:GCOM1
15	57953648	.	A	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:GCOM1:NM_001018100:exon11:c.A1120C:p.I374L,GCOM1:NM_001018091:exon11:c.A1120C:p.I374L,GCOM1:NM_001018090:exon11:c.A1120C:p.I374L,;ANNO=nonsynonymous:GCOM1:NM_001018100:exon11:c.A1120T:p.I374F,GCOM1:NM_001018091:exon11:c.A1120T:p.I374F,GCOM1:NM_001018090:exon11:c.A1120T:p.I374F,;ANNO=splicing:GCOM1;ANNO=splicing:GCOM1
15	58471327	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AQP9:NM_020980:exon5:c.G496A:p.V166M,;ANNO=splicing:AQP9
15	58830716	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LIPC:NM_000236:exon2:c.G273A:p.S91S,;ANNO=splicing:LIPC
15	59399869	.	G	A	100	PASS	AC=175;STUDIES=19;MAC=175;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCNB2:NM_004701:exon3:c.G267A:p.K89K,;ANNO=splicing:CCNB2
15	59455356	.	G	C	100	PASS	AC=45;STUDIES=12;MAC=45;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYO1E:NM_004998:exon23:c.C2627G:p.T876R,;ANNO=splicing:MYO1E
15	59497600	.	G	T	100	PASS	AC=32;STUDIES=12;MAC=32;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYO1E:NM_004998:exon15:c.C1615A:p.L539M,;ANNO=splicing:MYO1E
15	59515390	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO1E:NM_004998:exon9:c.C778G:p.H260D,;ANNO=splicing:MYO1E
15	60728342	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NARG2:NM_024611:exon13:c.A2510G:p.K837R,NARG2:NM_001018089:exon13:c.A2099G:p.K700R,;ANNO=splicing:NARG2
15	60745802	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:NARG2:NM_024611:exon9:c.C1125G:p.D375E,NARG2:NM_001018089:exon9:c.C714G:p.D238E,;ANNO=nonsynonymous:NARG2:NM_024611:exon9:c.C1125A:p.D375E,NARG2:NM_001018089:exon9:c.C714A:p.D238E,;ANNO=splicing:NARG2;ANNO=splicing:NARG2
15	60745802	.	G	T	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:NARG2:NM_024611:exon9:c.C1125G:p.D375E,NARG2:NM_001018089:exon9:c.C714G:p.D238E,;ANNO=nonsynonymous:NARG2:NM_024611:exon9:c.C1125A:p.D375E,NARG2:NM_001018089:exon9:c.C714A:p.D238E,;ANNO=splicing:NARG2;ANNO=splicing:NARG2
15	62148607	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:VPS13C:NM_017684:exon81:c.C10825T:p.R3609X,VPS13C:NM_020821:exon83:c.C10954T:p.R3652X,;ANNO=splicing:VPS13C
15	62167076	.	T	C	100	PASS	AC=23;STUDIES=4;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VPS13C:NM_017684:exon75:c.A10284G:p.V3428V,VPS13C:NM_018080:exon75:c.A10284G:p.V3428V,VPS13C:NM_001018088:exon77:c.A10413G:p.V3471V,VPS13C:NM_020821:exon77:c.A10413G:p.V3471V,;ANNO=splicing:VPS13C
15	62182599	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VPS13C:NM_017684:exon65:c.G8977A:p.D2993N,VPS13C:NM_018080:exon65:c.G8977A:p.D2993N,VPS13C:NM_001018088:exon67:c.G9106A:p.D3036N,VPS13C:NM_020821:exon67:c.G9106A:p.D3036N,;ANNO=splicing:VPS13C
15	62199588	.	C	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VPS13C:NM_017684:exon64:c.G8851T:p.G2951W,VPS13C:NM_018080:exon64:c.G8851T:p.G2951W,VPS13C:NM_001018088:exon66:c.G8980T:p.G2994W,VPS13C:NM_020821:exon66:c.G8980T:p.G2994W,;ANNO=splicing:VPS13C
15	62214960	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:VPS13C:NM_017684:exon52:c.T6482A:p.I2161N,VPS13C:NM_018080:exon52:c.T6482A:p.I2161N,VPS13C:NM_001018088:exon54:c.T6611A:p.I2204N,VPS13C:NM_020821:exon54:c.T6611A:p.I2204N,;ANNO=splicing:VPS13C
15	62283295	.	T	C	100	PASS	AC=42;STUDIES=11;MAC=42;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VPS13C(NM_017684:c.1354-2A>G,NM_020821:c.1483-2A>G,NM_001018088:c.1483-2A>G,NM_018080:c.1354-2A>G)
15	62320618	.	G	A	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:VPS13C:NM_001018088:exon6:c.C387T:p.G129G,VPS13C:NM_020821:exon6:c.C387T:p.G129G,;ANNO=splicing:VPS13C
15	63619433	.	C	T	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CA12(NM_206925:c.874-1G>A,NM_001218:c.907-1G>A)
15	63937296	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HERC1:NM_003922:exon57:c.T11079C:p.T3693T,;ANNO=splicing:HERC1
15	63948288	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HERC1:NM_003922:exon49:c.A9869G:p.Q3290R,;ANNO=splicing:HERC1
15	64218141	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:DAPK2:NM_014326:exon8:c.C811T:p.R271W,;ANNO=splicing:DAPK2
15	64419374	.	G	T	100	PASS	AC=1175;STUDIES=22;MAC=1175;MAF=0.049;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SNX1:NM_003099:exon7:c.G654T:p.L218F,SNX1:NM_148955:exon5:c.G459T:p.L153F,;ANNO=splicing:SNX1
15	65112044	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PIF1(NM_025049:c.1333+2T>C)
15	65113182	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PIF1:NM_025049:exon7:c.A1192G:p.R398G,;ANNO=splicing:PIF1
15	65147238	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLEKHO2(NM_001195059:c.129+2T>G,NM_025201:c.279+2T>G)
15	65223118	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ANKDD1A:NM_182703:exon7:c.G669T:p.A223A,;ANNO=splicing:ANKDD1A
15	65273363	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPG21:NM_001127889:exon3:c.A64G:p.I22V,SPG21:NM_016630:exon3:c.A64G:p.I22V,SPG21:NM_001127890:exon3:c.A64G:p.I22V,;ANNO=splicing:SPG21
15	65350955	.	C	T	100	PASS	AC=10;STUDIES=8;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RASL12:NM_016563:exon4:c.G235A:p.D79N,;ANNO=splicing:RASL12
15	65496606	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CILP:NM_003613:exon6:c.G919A:p.E307K,;ANNO=splicing:CILP
15	65500102	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CILP:NM_003613:exon3:c.G62C:p.G21A,;ANNO=splicing:CILP
15	65622889	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:IGDCC3:NM_004884:exon10:c.C1752T:p.L584L,;ANNO=splicing:IGDCC3
15	65627203	.	C	G	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IGDCC3:NM_004884:exon5:c.G686C:p.G229A,;ANNO=splicing:IGDCC3
15	65688088	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IGDCC4:NM_020962:exon7:c.G1411T:p.G471C,;ANNO=splicing:IGDCC4
15	65792945	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DPP8:NM_017743:exon4:c.C545T:p.T182M,DPP8:NM_197960:exon5:c.C593T:p.T198M,DPP8:NM_197961:exon5:c.C593T:p.T198M,DPP8:NM_130434:exon4:c.C545T:p.T182M,;ANNO=splicing:DPP8
15	65897570	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C15orf44:NM_030800:exon3:c.C227G:p.A76G,C15orf44:NM_001207058:exon3:c.C176G:p.P59R,C15orf44:NM_001207057:exon3:c.C335G:p.A112G,C15orf44:NM_001207059:exon2:c.C56G:p.A19G,;ANNO=splicing:C15orf44
15	65995212	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DENND4A:NM_001144823:exon16:c.A2222G:p.Q741R,DENND4A:NM_005848:exon16:c.A2222G:p.Q741R,;ANNO=splicing:DENND4A
15	66209165	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MEGF11(NM_032445:c.2215+1G>A)
15	66263028	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MEGF11(NM_032445:c.762-1G>A)
15	66273117	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MEGF11:NM_032445:exon7:c.C761T:p.T254M,;ANNO=splicing:MEGF11
15	66416237	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MEGF11:NM_032445:exon3:c.G200A:p.R67Q,;ANNO=splicing:MEGF11
15	66832550	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZWILCH(NM_017975:c.1687+2T>C)
15	66850220	.	A	T	100	PASS	AC=175;STUDIES=11;MAC=175;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LCTL:NM_207338:exon8:c.T762A:p.G254G,;ANNO=splicing:LCTL
15	67473790	.	C	T	100	PASS	AC=400;STUDIES=19;MAC=400;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SMAD3:NM_001145103:exon6:c.C738T:p.I246I,SMAD3:NM_001145104:exon4:c.C285T:p.I95I,SMAD3:NM_005902:exon6:c.C870T:p.I290I,SMAD3:NM_001145102:exon6:c.C555T:p.I185I,;ANNO=splicing:SMAD3
15	67547287	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IQCH(NM_022784:c.51+2T>A,NM_001031715:c.51+2T>A)
15	67555461	.	T	G	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IQCH:NM_001031715:exon3:c.T176G:p.I59S,IQCH:NM_022784:exon3:c.T176G:p.I59S,;ANNO=splicing:IQCH
15	67596677	.	C	T	100	PASS	AC=21;STUDIES=2;MAC=21;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:IQCH:NM_022784:exon5:c.C388T:p.R130X,;ANNO=splicing:IQCH
15	67893087	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAP2K5:NM_145160:exon8:c.A545G:p.K182R,MAP2K5:NM_001206804:exon8:c.A437G:p.K146R,MAP2K5:NM_002757:exon8:c.A545G:p.K182R,;ANNO=splicing:MAP2K5
15	67984818	.	C	T	100	PASS	AC=186;STUDIES=19;MAC=186;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MAP2K5:NM_145160:exon14:c.C849T:p.D283D,MAP2K5:NM_001206804:exon14:c.C741T:p.D247D,MAP2K5:NM_002757:exon14:c.C849T:p.D283D,;ANNO=splicing:MAP2K5
15	68123157	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SKOR1:NM_001031807:exon6:c.C2385T:p.G795G,;ANNO=splicing:SKOR1
15	68603418	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITGA11:NM_001004439:exon26:c.G3088A:p.A1030T,;ANNO=splicing:ITGA11
15	68620435	.	A	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ITGA11:NM_001004439:exon16:c.T2067C:p.V689V,;ANNO=splicing:ITGA11
15	68643740	.	G	C	100	PASS	AC=148;STUDIES=15;MAC=148;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ITGA11:NM_001004439:exon8:c.C750G:p.R250R,;ANNO=splicing:ITGA11
15	68987594	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CORO2B:NM_006091:exon3:c.C332T:p.S111L,CORO2B:NM_001190456:exon3:c.C317T:p.S106L,CORO2B:NM_001190457:exon3:c.C317T:p.S106L,;ANNO=splicing:CORO2B
15	69331196	.	G	A	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NOX5(NM_001184780:c.1266-1G>A,NM_024505:c.1371-1G>A,NM_001184779:c.1287-1G>A)
15	69331328	.	A	G	100	PASS	AC=50;STUDIES=11;MAC=50;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NOX5:NM_001184779:exon9:c.A1419G:p.K473K,NOX5:NM_024505:exon9:c.A1503G:p.K501K,NOX5:NM_001184780:exon9:c.A1398G:p.K466K,;ANNO=splicing:NOX5
15	69335001	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NOX5(NM_001184780:c.1399-2A>G,NM_024505:c.1504-2A>G,NM_001184779:c.1420-2A>G)
15	69340168	.	A	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NOX5(NM_001184780:c.1712-2A>T,NM_024505:c.1817-2A>T,NM_001184779:c.1733-2A>T)
15	69347675	.	C	T	100	PASS	AC=59;STUDIES=14;MAC=59;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NOX5:NM_001184779:exon15:c.C1917T:p.G639G,NOX5:NM_024505:exon15:c.C2001T:p.G667G,NOX5:NM_001184780:exon15:c.C1896T:p.G632G,;ANNO=splicing:NOX5
15	69692455	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PAQR5(NM_017705:c.751+1G>T,NM_001104554:c.751+1G>T)
15	70957001	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:UACA:NM_018003:exon17:c.C4113T:p.A1371A,UACA:NM_001008224:exon17:c.C4074T:p.A1358A,;ANNO=splicing:UACA
15	70971946	.	C	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UACA(NM_018003:c.891+1G>T,NM_001008224:c.852+1G>T)
15	70972015	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:UACA:NM_018003:exon10:c.C823T:p.R275X,UACA:NM_001008224:exon10:c.C784T:p.R262X,;ANNO=splicing:UACA
15	71188276	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LRRC49(NM_001199017:c.208+1G>A,NM_017691:c.193+1G>A)
15	71300718	.	G	T	100	PASS	AC=80;STUDIES=8;MAC=80;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LRRC49:NM_017691:exon12:c.G1170T:p.G390G,LRRC49:NM_001199018:exon13:c.G1038T:p.G346G,LRRC49:NM_001199017:exon12:c.G1185T:p.G395G,;ANNO=splicing:LRRC49
15	71404486	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CT62(NM_001102658:c.135+1G>A)
15	72039380	.	C	T	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:THSD4:NM_024817:exon12:c.C2240T:p.S747L,;ANNO=splicing:THSD4
15	72039381	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:THSD4:NM_024817:exon12:c.G2241A:p.S747S,;ANNO=splicing:THSD4
15	72141187	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO9A:NM_006901:exon39:c.T6836G:p.M2279R,;ANNO=splicing:MYO9A
15	72186120	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYO9A(NM_006901:c.5042-1G>A)
15	72231268	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO9A:NM_006901:exon16:c.G2303A:p.S768N,;ANNO=splicing:MYO9A
15	72457694	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GRAMD2(NM_001012642:c.600+1G>A)
15	72492096	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PKM2:NM_002654:exon11:c.C1491T:p.G497G,PKM2:NM_001206799:exon11:c.C1506T:p.G502G,PKM2:NM_182471:exon11:c.C1491T:p.G497G,PKM2:NM_001206796:exon12:c.C1713T:p.G571G,PKM2:NM_001206797:exon10:c.C1269T:p.G423G,PKM2:NM_182470:exon11:c.C1491T:p.G497G,PKM2:NM_001206798:exon11:c.C1446T:p.G482G,;ANNO=splicing:PKM2
15	72638575	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HEXA(NM_000520:c.1421+1G>C)
15	72640388	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HEXA(NM_000520:c.1073+1G>A)
15	72642859	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HEXA:NM_000520:exon7:c.G805A:p.G269S,;ANNO=splicing:HEXA
15	72690747	.	G	C	100	PASS	AC=79;STUDIES=9;MAC=79;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMEM202:NM_001080462:exon1:c.G80C:p.R27T,;ANNO=splicing:TMEM202
15	73023798	.	G	A	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BBS4:NM_033028:exon11:c.G864A:p.A288A,;ANNO=splicing:BBS4
15	73048787	.	C	T	100	PASS	AC=54;STUDIES=8;MAC=54;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ADPGK:NM_031284:exon5:c.G645A:p.G215G,;ANNO=splicing:ADPGK
15	73581488	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NEO1:NM_001172623:exon25:c.G3651A:p.G1217G,NEO1:NM_001172624:exon24:c.G3618A:p.G1206G,NEO1:NM_002499:exon25:c.G3651A:p.G1217G,;ANNO=splicing:NEO1
15	73996337	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:CD276:NM_001024736:exon5:c.C1071T:p.A357A,;ANNO=splicing:CD276
15	73996338	.	G	A	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:CD276:NM_001024736:exon5:c.G1072A:p.A358T,;ANNO=splicing:CD276
15	74284433	.	G	T	100	PASS	AC=20;STUDIES=4;MAC=20;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:STOML1:NM_004809:exon1:c.C132A:p.A44A,;ANNO=splicing:STOML1
15	74490093	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:STRA6:NM_001199041:exon3:c.A225G:p.S75S,STRA6:NM_001142619:exon3:c.A180G:p.S60S,STRA6:NM_001199042:exon3:c.A297G:p.S99S,STRA6:NM_001142620:exon3:c.A180G:p.S60S,STRA6:NM_001142618:exon3:c.A180G:p.S60S,STRA6:NM_001142617:exon3:c.A180G:p.S60S,STRA6:NM_001199040:exon3:c.A291G:p.S97S,STRA6:NM_022369:exon3:c.A180G:p.S60S,;ANNO=splicing:STRA6
15	74623091	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCDC33:NM_025055:exon13:c.G1544A:p.R515Q,CCDC33:NM_182791:exon3:c.G323A:p.R108Q,;ANNO=splicing:CCDC33
15	74865203	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ARID3B:NM_006465:exon3:c.A553G:p.N185D,;ANNO=splicing:ARID3B
15	74948075	.	C	T	100	PASS	AC=55;STUDIES=9;MAC=55;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EDC3:NM_001142444:exon5:c.G819A:p.T273T,EDC3:NM_025083:exon4:c.G819A:p.T273T,EDC3:NM_001142443:exon7:c.G819A:p.T273T,;ANNO=splicing:EDC3
15	75044195	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CYP1A2:NM_000761:exon4:c.G1042A:p.D348N,;ANNO=splicing:CYP1A2
15	75111159	.	G	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LMAN1L(NM_021819:c.597+1G>A)
15	75112974	.	A	G	100	PASS	AC=22;STUDIES=9;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LMAN1L(NM_021819:c.774-2A>G)
15	75114242	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LMAN1L(NM_021819:c.1131+1G>A)
15	75116023	.	G	A	100	PASS	AC=57;STUDIES=11;MAC=57;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LMAN1L:NM_021819:exon12:c.G1323A:p.A441A,;ANNO=splicing:LMAN1L
15	75129584	.	A	C	100	PASS	AC=211;STUDIES=18;MAC=211;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ULK3:NM_001099436:exon16:c.T1404G:p.S468S,;ANNO=splicing:ULK3
15	75130093	.	T	C	100	PASS	AC=9293;STUDIES=19;MAC=8595;MAF=0.480;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:ULK3:NM_001099436:exon14:c.A1334G:p.K445R,;ANNO=splicing:ULK3
15	75133849	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ULK3:NM_001099436:exon4:c.T366C:p.A122A,;ANNO=splicing:ULK3
15	75134417	.	T	C	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ULK3:NM_001099436:exon3:c.A363G:p.L121L,;ANNO=splicing:ULK3
15	75215990	.	C	T	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:COX5A;ANNO=splicing:COX5A
15	75641682	.	T	C	100	PASS	AC=126;STUDIES=14;MAC=126;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NEIL1(NM_024608:c.434+2T>C)
15	75644571	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NEIL1:NM_024608:exon3:c.G554A:p.R185Q,;ANNO=splicing:NEIL1
15	75646080	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NEIL1:NM_024608:exon6:c.G719C:p.G240A,;ANNO=splicing:NEIL1
15	75651961	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MAN2C1:NM_006715:exon16:c.G1948A:p.A650T,;ANNO=splicing:MAN2C1
15	75652907	.	T	A	100	PASS	AC=42;STUDIES=12;MAC=42;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MAN2C1:NM_006715:exon13:c.A1583T:p.Q528L,;ANNO=splicing:MAN2C1
15	75654685	.	A	G	100	PASS	AC=73;STUDIES=6;MAC=73;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MAN2C1:NM_006715:exon8:c.T1007C:p.M336T,;ANNO=splicing:MAN2C1
15	75656531	.	T	C	100	PASS	AC=25;STUDIES=9;MAC=25;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MAN2C1(NM_006715:c.600-2A>G)
15	75658862	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MAN2C1(NM_006715:c.422+1G>A)
15	75901899	.	C	G	100	PASS	AC=101;STUDIES=17;MAC=101;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SNUPN:NM_001042581:exon5:c.G502C:p.D168H,SNUPN:NM_001042588:exon5:c.G502C:p.D168H,SNUPN:NM_005701:exon5:c.G502C:p.D168H,;ANNO=splicing:SNUPN
15	76018513	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ODF3L1(NM_175881:c.343+1G>A)
15	76673956	.	C	T	100	PASS	AC=30;STUDIES=9;MAC=30;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SCAPER:NM_001145923:exon28:c.G2730A:p.R910R,SCAPER:NM_020843:exon27:c.G3468A:p.R1156R,;ANNO=splicing:SCAPER
15	77324734	.	C	T	100	PASS	AC=85;STUDIES=15;MAC=85;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PSTPIP1:NM_003978:exon11:c.C837T:p.P279P,;ANNO=splicing:PSTPIP1
15	77348407	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TSPAN3:NM_005724:exon2:c.C254T:p.T85M,TSPAN3:NM_198902:exon2:c.C254T:p.T85M,;ANNO=splicing:TSPAN3
15	78317602	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TBC1D2B:NM_144572:exon5:c.A1085G:p.K362R,TBC1D2B:NM_015079:exon5:c.A1085G:p.K362R,;ANNO=splicing:TBC1D2B
15	78346377	.	A	G	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TBC1D2B:NM_144572:exon2:c.T513C:p.T171T,TBC1D2B:NM_015079:exon2:c.T513C:p.T171T,;ANNO=splicing:TBC1D2B
15	78393899	.	A	G	100	PASS	AC=56;STUDIES=6;MAC=56;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SH2D7:NM_001101404:exon5:c.A1304G:p.K435R,;ANNO=splicing:SH2D7
15	78472122	.	G	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ACSBG1:NM_001199377:exon10:c.C1242T:p.S414S,ACSBG1:NM_015162:exon10:c.C1254T:p.S418S,;ANNO=splicing:ACSBG1
15	78786397	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IREB2:NM_004136:exon19:c.C2471T:p.T824M,;ANNO=splicing:IREB2
15	78922287	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CHRNB4:NM_000750:exon5:c.C360T:p.N120N,;ANNO=splicing:CHRNB4
15	79064170	.	C	T	100	PASS	AC=658;STUDIES=21;MAC=658;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:ADAMTS7:NM_014272:exon15:c.G2133A:p.G711G,;ANNO=splicing:ADAMTS7
15	79066967	.	G	A	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:ADAMTS7:NM_014272:exon12:c.C1875T:p.D625D,;ANNO=splicing:ADAMTS7
15	79068675	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:ADAMTS7:NM_014272:exon11:c.T1561C:p.W521R,;ANNO=splicing:ADAMTS7
15	79220054	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:CTSH(NM_004390:c.699+1G>C);ANNO=splicing:CTSH(NM_004390:c.699+1G>A)
15	79223847	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CTSH:NM_004390:exon7:c.C494G:p.A165G,;ANNO=splicing:CTSH
15	79304830	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RASGRF1(NM_002891:c.1865+1G>A)
15	79603760	.	G	A	100	PASS	AC=70;STUDIES=14;MAC=70;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMED3(NM_007364:c.168+1G>A)
15	79760530	.	C	T	100	PASS	AC=127;STUDIES=15;MAC=127;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA1024:NM_015206:exon4:c.C2555T:p.T852M,;ANNO=splicing:KIAA1024
15	80181436	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ST20-MTHFS:NM_001199760:exon3:c.A306G:p.T102T,MTHFS:NM_006441:exon2:c.A378G:p.T126T,MTHFS:NM_001199758:exon2:c.A207G:p.T69T,;ANNO=splicing:MTHFS,ST20-MTHFS
15	80465355	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAH(NM_000137:c.706-1G>A)
15	81173477	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1199:NM_018689:exon5:c.G617A:p.R206Q,;ANNO=splicing:KIAA1199
15	81188400	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIAA1199:NM_018689:exon11:c.A1410G:p.A470A,;ANNO=splicing:KIAA1199
15	81224380	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KIAA1199:NM_018689:exon21:c.G2793A:p.P931P,;ANNO=splicing:KIAA1199
15	81436161	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:C15orf26:NM_173528:exon5:c.G636A:p.P212P,;ANNO=synonymous:C15orf26:NM_173528:exon5:c.G636C:p.P212P,;ANNO=splicing:C15orf26;ANNO=splicing:C15orf26
15	81565432	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IL16:NM_001172128:exon6:c.G677T:p.G226V,IL16:NM_172217:exon5:c.G677T:p.G226V,;ANNO=splicing:IL16
15	81593685	.	C	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IL16:NM_001172128:exon15:c.C3150G:p.N1050K,IL16:NM_172217:exon14:c.C3150G:p.N1050K,IL16:NM_004513:exon3:c.C1047G:p.N349K,;ANNO=splicing:IL16
15	81595991	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IL16:NM_001172128:exon16:c.G3420A:p.T1140T,IL16:NM_172217:exon15:c.G3420A:p.T1140T,IL16:NM_004513:exon4:c.G1317A:p.T439T,;ANNO=splicing:IL16
15	82532760	.	T	C	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:EFTUD1:NM_001040610:exon4:c.A362G:p.Q121R,EFTUD1:NM_024580:exon6:c.A515G:p.Q172R,;ANNO=splicing:EFTUD1
15	82574461	.	C	T	100	PASS	AC=535;STUDIES=21;MAC=535;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:FAM154B:NM_001008226:exon3:c.C255T:p.D85D,;ANNO=splicing:FAM154B
15	83240095	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CPEB1:NM_001079535:exon1:c.G153A:p.S51S,CPEB1:NM_001079533:exon2:c.G153A:p.S51S,CPEB1:NM_001079534:exon2:c.G153A:p.S51S,CPEB1:NM_030594:exon3:c.G378A:p.S126S,;ANNO=splicing:CPEB1
15	83349864	.	C	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AP3B2:NM_004644:exon6:c.G588C:p.T196T,;ANNO=splicing:AP3B2
15	83358130	.	C	T	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AP3B2:NM_004644:exon2:c.G189A:p.A63A,;ANNO=splicing:AP3B2
15	83434783	.	C	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FSD2:NM_001007122:exon10:c.G1554C:p.E518D,;ANNO=splicing:FSD2
15	83519982	.	T	C	100	PASS	AC=98;STUDIES=11;MAC=98;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HOMER2:NM_004839:exon8:c.T764G:p.L255R,HOMER2:NM_199330:exon8:c.T797G:p.L266R,;ANNO=splicing:HOMER2
15	83657760	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:FAM103A1
15	84568483	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADAMTSL3:NM_207517:exon15:c.C1700T:p.T567M,;ANNO=splicing:ADAMTSL3
15	85189578	.	A	C	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WDR73:NM_032856:exon6:c.T354G:p.D118E,;ANNO=splicing:WDR73
15	85430976	.	C	G	100	PASS	AC=17;STUDIES=3;MAC=17;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:SLC28A1
15	86064807	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AKAP13(NM_007200:c.181+1G>T,NM_006738:c.181+1G>T)
15	86199018	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AKAP13:NM_006738:exon11:c.G4745A:p.S1582N,AKAP13:NM_007200:exon11:c.G4745A:p.S1582N,;ANNO=splicing:AKAP13
15	86205618	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:AKAP13(NM_006738:c.4745-1G>A);ANNO=splicing:AKAP13(NM_006738:c.4745-1G>T)
15	86273745	.	A	C	100	PASS	AC=55;STUDIES=14;MAC=55;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AKAP13:NM_006738:exon30:c.A7101C:p.E2367D,AKAP13:NM_144767:exon17:c.A1824C:p.E608D,AKAP13:NM_007200:exon30:c.A7089C:p.E2363D,;ANNO=splicing:AKAP13
15	86791109	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AGBL1:NM_152336:exon6:c.A596T:p.Q199L,;ANNO=splicing:AGBL1
15	86800251	.	T	G	100	PASS	AC=29;STUDIES=5;MAC=29;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AGBL1(NM_152336:c.763+2T>G)
15	86801261	.	A	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AGBL1:NM_152336:exon8:c.A830G:p.E277G,;ANNO=splicing:AGBL1
15	87217666	.	C	T	100	PASS	AC=40;STUDIES=12;MAC=40;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:AGBL1:NM_152336:exon22:c.C3082T:p.R1028X,;ANNO=splicing:AGBL1
15	88472664	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NTRK3:NM_002530:exon16:c.G1891A:p.A631T,NTRK3:NM_001012338:exon16:c.G1891A:p.A631T,;ANNO=splicing:NTRK3
15	89011012	.	G	C	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MRPS11:NM_022839:exon1:c.G64C:p.G22R,MRPS11:NM_176805:exon1:c.G64C:p.G22R,;ANNO=splicing:MRPS11
15	89011140	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MRPS11:NM_022839:exon2:c.A67C:p.R23R,MRPS11:NM_176805:exon2:c.A67C:p.R23R,;ANNO=splicing:MRPS11
15	89060204	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DET1:NM_001144074:exon4:c.G1272A:p.R424R,DET1:NM_017996:exon5:c.G1305A:p.R435R,;ANNO=splicing:DET1
15	89079543	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DET1:NM_017996:exon2:c.G23C:p.R8T,;ANNO=splicing:DET1
15	89079614	.	T	C	100	PASS	AC=21;STUDIES=2;MAC=21;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:DET1
15	89383244	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ACAN:NM_001135:exon4:c.C456T:p.G152G,ACAN:NM_013227:exon4:c.C456T:p.G152G,;ANNO=splicing:ACAN
15	89417255	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACAN:NM_013227:exon17:c.C7516T:p.P2506S,;ANNO=splicing:ACAN
15	89443044	.	T	G	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MFGE8(NM_005928:c.870-2A>C)
15	89448988	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MFGE8:NM_001114614:exon5:c.G685A:p.G229R,MFGE8:NM_005928:exon5:c.G685A:p.G229R,;ANNO=splicing:MFGE8
15	89753674	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RLBP1:NM_000326:exon9:c.G796A:p.V266I,;ANNO=splicing:RLBP1
15	89803944	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FANCI:NM_018193:exon4:c.G158C:p.G53A,FANCI:NM_001113378:exon4:c.G158C:p.G53A,;ANNO=splicing:FANCI
15	89817534	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FANCI:NM_018193:exon12:c.A1111G:p.S371G,FANCI:NM_001113378:exon12:c.A1111G:p.S371G,;ANNO=splicing:FANCI
15	89819943	.	G	A	100	PASS	AC=231;STUDIES=12;MAC=231;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FANCI:NM_018193:exon13:c.G1114A:p.V372I,FANCI:NM_001113378:exon13:c.G1114A:p.V372I,;ANNO=splicing:FANCI
15	89848573	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FANCI:NM_018193:exon29:c.A3008T:p.D1003V,FANCI:NM_001113378:exon30:c.A3188T:p.D1063V,;ANNO=splicing:FANCI
15	90021205	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RHCG:NM_016321:exon6:c.G838A:p.V280M,;ANNO=splicing:RHCG
15	90135278	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C15orf42:NM_152259:exon5:c.C1412T:p.A471V,;ANNO=splicing:C15orf42
15	90169016	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C15orf42:NM_152259:exon20:c.C5475T:p.S1825S,;ANNO=splicing:C15orf42
15	90189125	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIF7:NM_198525:exon8:c.A1921G:p.R641G,;ANNO=splicing:KIF7
15	90342657	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:ANPEP:NM_001150:exon13:c.G1953T:p.S651S,;ANNO=synonymous:ANPEP:NM_001150:exon13:c.G1953A:p.S651S,;ANNO=splicing:ANPEP;ANNO=splicing:ANPEP
15	90346673	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ANPEP:NM_001150:exon9:c.G1503A:p.A501A,;ANNO=splicing:ANPEP
15	90763025	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SEMA4B:NM_198925:exon4:c.C385T:p.R129C,SEMA4B:NM_020210:exon5:c.C385T:p.R129C,;ANNO=splicing:SEMA4B
15	90767220	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SEMA4B:NM_198925:exon9:c.G1194A:p.A398A,SEMA4B:NM_020210:exon10:c.G1194A:p.A398A,;ANNO=splicing:SEMA4B
15	90800513	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TTLL13:NM_001029964:exon7:c.G849A:p.L283L,;ANNO=splicing:TTLL13
15	90814420	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NGRN:NM_001033088:exon3:c.G276A:p.R92R,;ANNO=splicing:NGRN
15	91017718	.	C	T	100	PASS	AC=454;STUDIES=19;MAC=454;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:IQGAP1:NM_003870:exon23:c.C2577T:p.I859I,;ANNO=splicing:IQGAP1
15	91034776	.	G	A	100	PASS	AC=43;STUDIES=14;MAC=43;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IQGAP1:NM_003870:exon34:c.G4460A:p.R1487K,;ANNO=splicing:IQGAP1
15	91162973	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CRTC3:NM_022769:exon9:c.A700G:p.I234V,CRTC3:NM_001042574:exon9:c.A700G:p.I234V,;ANNO=splicing:CRTC3
15	91298168	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BLM:NM_000057:exon5:c.G1087A:p.A363T,;ANNO=splicing:BLM
15	91433507	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FES:NM_001143783:exon7:c.C1061T:p.S354L,FES:NM_001143785:exon8:c.C1061T:p.S354L,FES:NM_001143784:exon8:c.C1235T:p.S412L,FES:NM_002005:exon9:c.C1235T:p.S412L,;ANNO=splicing:FES
15	91448809	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAN2A2:NM_006122:exon3:c.A391G:p.M131V,;ANNO=splicing:MAN2A2
15	91456984	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MAN2A2:NM_006122:exon18:c.T2859C:p.D953D,;ANNO=splicing:MAN2A2
15	91486311	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UNC45A:NM_001039675:exon11:c.A981C:p.Q327H,UNC45A:NM_018671:exon8:c.A1026C:p.Q342H,;ANNO=splicing:UNC45A
15	91491883	.	G	T	100	PASS	AC=24;STUDIES=12;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UNC45A(NM_001039675:c.1692-1G>T,NM_018671:c.1737-1G>T)
15	91496386	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UNC45A:NM_001039675:exon22:c.T2378C:p.V793A,UNC45A:NM_018671:exon19:c.T2423C:p.V808A,;ANNO=splicing:UNC45A
15	91512754	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PRC1:NM_003981:exon13:c.G1672T:p.G558C,PRC1:NM_199413:exon13:c.G1672T:p.G558C,PRC1:NM_199414:exon13:c.G1672T:p.A558S,;ANNO=splicing:PRC1
15	91543131	.	T	A	100	PASS	AC=696;STUDIES=13;MAC=696;MAF=0.050;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VPS33B:NM_018668:exon21:c.A1656T:p.T552T,;ANNO=splicing:VPS33B
15	91545411	.	C	T	100	PASS	AC=29;STUDIES=13;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VPS33B:NM_018668:exon18:c.G1274A:p.S425N,;ANNO=splicing:VPS33B
15	91549013	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:VPS33B:NM_018668:exon13:c.G941A:p.R314H,;ANNO=splicing:VPS33B
15	91557034	.	C	T	100	PASS	AC=23;STUDIES=7;MAC=23;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VPS33B:NM_018668:exon5:c.G357A:p.K119K,;ANNO=splicing:VPS33B
15	91557100	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:VPS33B:NM_018668:exon5:c.T291A:p.S97R,;ANNO=splicing:VPS33B
15	91803638	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SV2B:NM_014848:exon7:c.C1007T:p.T336M,SV2B:NM_001167580:exon5:c.C554T:p.T185M,;ANNO=splicing:SV2B
15	91803639	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SV2B:NM_014848:exon7:c.G1008A:p.T336T,SV2B:NM_001167580:exon5:c.G555A:p.T185T,;ANNO=splicing:SV2B
15	93162691	.	T	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM174B(NM_207446:c.476-2A>G)
15	93595736	.	G	A	100	PASS	AC=18;STUDIES=3;MAC=18;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RGMA:NM_001166283:exon3:c.C156T:p.A52A,RGMA:NM_020211:exon3:c.C132T:p.A44A,RGMA:NM_001166289:exon3:c.C84T:p.A28A,RGMA:NM_001166286:exon2:c.C84T:p.A28A,RGMA:NM_001166287:exon3:c.C84T:p.A28A,RGMA:NM_001166288:exon3:c.C84T:p.A28A,;ANNO=splicing:RGMA
15	94841430	.	G	A	100	PASS	AC=326;STUDIES=3;MAC=326;MAF=0.157;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:MCTP2
15	94883428	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MCTP2:NM_001159643:exon5:c.G781C:p.V261L,MCTP2:NM_018349:exon5:c.G781C:p.V261L,;ANNO=splicing:MCTP2
15	94884153	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MCTP2:NM_001159643:exon6:c.C969T:p.H323H,MCTP2:NM_018349:exon6:c.C969T:p.H323H,;ANNO=splicing:MCTP2
15	94911021	.	G	C	100	PASS	AC=30;STUDIES=11;MAC=30;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MCTP2(NM_001159643:c.1488+1G>C,NM_018349:c.1488+1G>C,NM_001159644:c.252+1G>C)
15	95019926	.	C	T	100	PASS	AC=794;STUDIES=20;MAC=794;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:MCTP2:NM_001159643:exon19:c.C2307T:p.G769G,MCTP2:NM_018349:exon21:c.C2472T:p.G824G,;ANNO=splicing:MCTP2
15	97327488	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SPATA8:NM_173499:exon2:c.A195G:p.E65E,;ANNO=splicing:SPATA8
15	99023829	.	C	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM169B:NM_182562:exon4:c.G184T:p.G62C,;ANNO=splicing:FAM169B
15	99679521	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:TTC23(NM_001040658:c.1226+1G>C,NM_001040659:c.1226+1G>C,NM_022905:c.1226+1G>C,NM_001040655:c.1226+1G>C,NM_001040656:c.1226+1G>C,NM_001040657:c.1226+1G>C,NM_001040660:c.1226+1G>C);ANNO=splicing:TTC23(NM_001040658:c.1226+1G>A,NM_001040659:c.1226+1G>A,NM_022905:c.1226+1G>A,NM_001040655:c.1226+1G>A,NM_001040656:c.1226+1G>A,NM_001040657:c.1226+1G>A,NM_001040660:c.1226+1G>A)
15	99696352	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTC23(NM_001040658:c.1143+1G>T,NM_001040659:c.1143+1G>T,NM_022905:c.1143+1G>T,NM_001040655:c.1143+1G>T,NM_001040656:c.1143+1G>T,NM_001040657:c.1143+1G>T,NM_001040660:c.1143+1G>T)
15	99762070	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTC23(NM_001040658:c.180-1G>A,NM_001040659:c.180-1G>A,NM_022905:c.180-1G>A,NM_001040655:c.180-1G>A,NM_001040656:c.180-1G>A,NM_001040657:c.180-1G>A,NM_001040660:c.180-1G>A)
15	100252595	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MEF2A:NM_005587:exon11:c.T1119C:p.V373V,MEF2A:NM_001171894:exon12:c.T1113C:p.V371V,MEF2A:NM_001130928:exon8:c.T909C:p.V303V,MEF2A:NM_001130927:exon10:c.T933C:p.V311V,MEF2A:NM_001130926:exon10:c.T1113C:p.V371V,;ANNO=splicing:MEF2A
15	100271379	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LYSMD4:NM_152449:exon5:c.A284C:p.K95T,;ANNO=splicing:LYSMD4
15	100533254	.	G	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAMTS17:NM_139057:exon20:c.C2948T:p.T983M,;ANNO=splicing:ADAMTS17
15	100589063	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAMTS17:NM_139057:exon18:c.C2590T:p.R864W,;ANNO=splicing:ADAMTS17
15	100649321	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADAMTS17:NM_139057:exon14:c.A1889G:p.D630G,;ANNO=splicing:ADAMTS17
15	100657053	.	G	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ADAMTS17:NM_139057:exon13:c.C1887T:p.D629D,;ANNO=splicing:ADAMTS17
15	100695385	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAMTS17:NM_139057:exon9:c.A1322G:p.K441R,;ANNO=splicing:ADAMTS17
15	100802557	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ADAMTS17:NM_139057:exon5:c.C873T:p.P291P,;ANNO=splicing:ADAMTS17
15	101024873	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CERS3:NM_178842:exon6:c.A289C:p.T97P,;ANNO=splicing:CERS3
15	101169643	.	T	C	100	PASS	AC=84;STUDIES=7;MAC=84;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ASB7:NM_024708:exon5:c.T213C:p.A71A,ASB7:NM_198243:exon5:c.T213C:p.A71A,;ANNO=splicing:ASB7
15	101464717	.	G	T	100	PASS	AC=132;STUDIES=2;MAC=132;MAF=0.093;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:LRRK1
15	101591917	.	C	A	100	PASS	AC=76;STUDIES=9;MAC=76;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LRRK1:NM_024652:exon24:c.C3441A:p.A1147A,;ANNO=splicing:LRRK1
15	101905203	.	C	T	100	PASS	AC=64;STUDIES=4;MAC=64;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PCSK6:NM_138325:exon14:c.G1903A:p.V635I,;ANNO=splicing:PCSK6(NM_138324:c.1902+1G>A)
15	102248996	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TARSL2:NM_152334:exon6:c.G930A:p.K310K,;ANNO=splicing:TARSL2
16	129423	.	G	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MPG(NM_002434:c.39-1G>T,NM_001015052:c.24-1G>T)
16	188335	.	T	A	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.167;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:NPRL3
16	216090	.	T	C	100	PASS	AC=46;STUDIES=11;MAC=46;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HBM(NM_001003938:c.92+2T>C)
16	313261	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ITFG3:NM_032039:exon9:c.C972T:p.S324S,;ANNO=splicing:ITFG3
16	319502	.	C	T	100	PASS	AC=27;STUDIES=4;MAC=27;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RGS11:NM_003834:exon16:c.G1226A:p.R409H,RGS11:NM_183337:exon16:c.G1289A:p.R430H,;ANNO=splicing:RGS11
16	320662	.	T	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RGS11(NM_003834:c.1004-2A>C,NM_183337:c.1067-2A>C)
16	320982	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RGS11(NM_003834:c.916+1G>A,NM_183337:c.979+1G>A)
16	321200	.	C	T	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RGS11(NM_003834:c.800+1G>A,NM_183337:c.863+1G>A)
16	332373	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGDIG:NM_001176:exon4:c.G414A:p.K138K,;ANNO=splicing:ARHGDIG
16	334791	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDIA2:NM_006849:exon3:c.A539G:p.Q180R,;ANNO=splicing:PDIA2
16	335311	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PDIA2(NM_006849:c.795-1G>A)
16	336944	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PDIA2:NM_006849:exon10:c.C1532T:p.P511L,;ANNO=splicing:PDIA2
16	364544	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AXIN1:NM_003502:exon3:c.G1018A:p.V340M,AXIN1:NM_181050:exon3:c.G1018A:p.V340M,;ANNO=splicing:AXIN1
16	424005	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TMEM8A:NM_021259:exon11:c.C1902T:p.Y634Y,;ANNO=splicing:TMEM8A
16	455023	.	C	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DECR2:NM_020664:exon2:c.C148A:p.R50R,;ANNO=splicing:DECR2
16	455024	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DECR2:NM_020664:exon2:c.G149A:p.R50Q,;ANNO=splicing:DECR2
16	456396	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DECR2:NM_020664:exon3:c.C200T:p.T67M,;ANNO=splicing:DECR2
16	569754	.	G	C	100	PASS	AC=17;STUDIES=7;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RAB11FIP3:NM_001142272:exon9:c.G835C:p.E279Q,RAB11FIP3:NM_014700:exon11:c.G1723C:p.E575Q,;ANNO=splicing:RAB11FIP3
16	685339	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C16orf13:NM_001040160:exon3:c.G362A:p.G121E,C16orf13:NM_001040162:exon2:c.G199A:p.G67S,C16orf13:NM_032366:exon3:c.G362A:p.G121E,;ANNO=splicing:C16orf13
16	700363	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:WDR90(NM_145294:c.388+1G>A);ANNO=splicing:WDR90(NM_145294:c.388+1G>T)
16	701103	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WDR90:NM_145294:exon6:c.G668A:p.R223Q,;ANNO=splicing:WDR90
16	707223	.	T	G	100	PASS	AC=27;STUDIES=2;MAC=27;MAF=0.065;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR90(NM_145294:c.2473+2T>G)
16	709086	.	C	T	100	PASS	AC=70;STUDIES=6;MAC=70;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:WDR90:NM_145294:exon25:c.C3012T:p.S1004S,;ANNO=splicing:WDR90
16	717828	.	G	T	100	PASS	AC=1200;STUDIES=3;MAC=874;MAF=0.421;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:WDR90
16	721780	.	A	G	100	PASS	AC=101;STUDIES=6;MAC=101;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RHOT2:NM_138769:exon12:c.A953G:p.Q318R,;ANNO=splicing:RHOT2
16	733441	.	T	G	100	PASS	AC=224;STUDIES=8;MAC=224;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:JMJD8:NM_001005920:exon6:c.A455C:p.D152A,;ANNO=splicing:JMJD8
16	734065	.	C	A	100	PASS	AC=32;STUDIES=4;MAC=32;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:JMJD8(NM_001005920:c.239+1G>T)
16	735679	.	G	A	100	PASS	AC=25;STUDIES=10;MAC=25;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDR24:NM_032259:exon6:c.C1678T:p.P560S,;ANNO=splicing:WDR24
16	739161	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:WDR24:NM_032259:exon1:c.G480A:p.S160S,;ANNO=splicing:WDR24
16	771703	.	G	A	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM173A(NM_023933:c.267+1G>A)
16	775236	.	C	T	100	PASS	AC=66;STUDIES=12;MAC=66;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC78(NM_001031737:c.492+1G>A)
16	775237	.	G	A	100	PASS	AC=14;STUDIES=6;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CCDC78:NM_001031737:exon5:c.C492T:p.G164G,;ANNO=splicing:CCDC78
16	775293	.	C	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC78:NM_001031737:exon5:c.G436T:p.V146L,;ANNO=splicing:CCDC78
16	776308	.	A	G	100	PASS	AC=30;STUDIES=2;MAC=30;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CCDC78:NM_001031737:exon1:c.T60C:p.N20N,;ANNO=splicing:CCDC78
16	813692	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MSLN(NM_005823:c.179+1G>A,NM_001177355:c.179+1G>A,NM_013404:c.179+1G>A)
16	818380	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MSLN:NM_001177355:exon17:c.C1598T:p.P533L,MSLN:NM_005823:exon17:c.C1598T:p.P533L,MSLN:NM_013404:exon16:c.C1622T:p.P541L,;ANNO=splicing:MSLN
16	818649	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MSLN:NM_001177355:exon18:c.G1785C:p.E595D,MSLN:NM_005823:exon18:c.G1785C:p.E595D,MSLN:NM_013404:exon17:c.G1809C:p.E603D,;ANNO=splicing:MSLN
16	824504	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MSLNL:NM_001025190:exon8:c.G1737A:p.G579G,;ANNO=splicing:MSLNL
16	824837	.	C	T	100	PASS	AC=166;STUDIES=14;MAC=166;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:MSLNL:NM_001025190:exon7:c.G1735A:p.G579R,;ANNO=splicing:MSLNL
16	825663	.	G	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:MSLNL:NM_001025190:exon5:c.C1098A:p.C366X,;ANNO=splicing:MSLNL
16	836828	.	C	T	100	PASS	AC=15;STUDIES=3;MAC=15;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RPUSD1:NM_058192:exon5:c.G510A:p.T170T,;ANNO=splicing:RPUSD1
16	839548	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CHTF18:NM_022092:exon4:c.G439A:p.V147I,;ANNO=splicing:CHTF18
16	840270	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CHTF18(NM_022092:c.699+1G>A)
16	840347	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CHTF18:NM_022092:exon6:c.C700T:p.R234W,;ANNO=splicing:CHTF18
16	845834	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CHTF18:NM_022092:exon17:c.C2325T:p.P775P,;ANNO=splicing:CHTF18
16	904706	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LMF1:NM_022773:exon11:c.G1530A:p.R510R,;ANNO=splicing:LMF1
16	1004665	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LMF1:NM_022773:exon2:c.C195T:p.F65F,;ANNO=splicing:LMF1
16	1143496	.	C	A	100	PASS	AC=34;STUDIES=4;MAC=34;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:C1QTNF8(NM_207419:c.763+1G>T)
16	1258220	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CACNA1H:NM_021098:exon16:c.C3362T:p.P1121L,CACNA1H:NM_001005407:exon16:c.C3362T:p.P1121L,;ANNO=splicing:CACNA1H
16	1262137	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CACNA1H:NM_021098:exon25:c.G4758A:p.R1586R,CACNA1H:NM_001005407:exon25:c.G4758A:p.R1586R,;ANNO=splicing:CACNA1H
16	1273424	.	C	T	100	PASS	AC=56;STUDIES=5;MAC=56;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TPSG1:NM_012467:exon3:c.G244A:p.G82R,;ANNO=splicing:TPSG1
16	1275208	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TPSG1:NM_012467:exon1:c.C45T:p.P15P,;ANNO=splicing:TPSG1
16	1308333	.	G	A	100	PASS	AC=205;STUDIES=18;MAC=205;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TPSD1:NM_012217:exon5:c.G685A:p.G229S,;ANNO=splicing:TPSD1
16	1391195	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:BAIAP3:NM_001199099:exon7:c.C450T:p.N150N,BAIAP3:NM_001199096:exon7:c.C534T:p.N178N,BAIAP3:NM_003933:exon7:c.C639T:p.N213N,BAIAP3:NM_001199098:exon7:c.C465T:p.N155N,BAIAP3:NM_001199097:exon7:c.C534T:p.N178N,;ANNO=splicing:BAIAP3
16	1391823	.	C	T	100	PASS	AC=23;STUDIES=4;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BAIAP3:NM_001199099:exon9:c.C648T:p.F216F,BAIAP3:NM_001199096:exon9:c.C732T:p.F244F,BAIAP3:NM_003933:exon9:c.C837T:p.F279F,BAIAP3:NM_001199098:exon9:c.C663T:p.F221F,BAIAP3:NM_001199097:exon9:c.C732T:p.F244F,;ANNO=splicing:BAIAP3
16	1394970	.	G	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BAIAP3:NM_001199099:exon21:c.G1726A:p.V576M,BAIAP3:NM_001199096:exon20:c.G1702A:p.V568M,BAIAP3:NM_003933:exon21:c.G1915A:p.V639M,BAIAP3:NM_001199098:exon21:c.G1741A:p.V581M,BAIAP3:NM_001199097:exon21:c.G1810A:p.V604M,;ANNO=splicing:BAIAP3
16	1396079	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:BAIAP3:NM_001199099:exon24:c.G2217A:p.A739A,BAIAP3:NM_001199096:exon23:c.G2193A:p.A731A,BAIAP3:NM_003933:exon24:c.G2406A:p.A802A,BAIAP3:NM_001199098:exon24:c.G2232A:p.A744A,BAIAP3:NM_001199097:exon24:c.G2301A:p.A767A,;ANNO=splicing:BAIAP3
16	1411798	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GNPTG:NM_032520:exon4:c.C233T:p.T78M,;ANNO=splicing:GNPTG
16	1412320	.	A	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GNPTG:NM_032520:exon7:c.A525C:p.L175L,;ANNO=splicing:GNPTG
16	1478413	.	C	T	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C16orf91:NM_001010878:exon2:c.G238A:p.A80T,;ANNO=splicing:C16orf91
16	1478414	.	C	T	100	PASS	AC=32;STUDIES=10;MAC=32;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C16orf91:NM_001010878:exon2:c.G237A:p.K79K,;ANNO=splicing:C16orf91
16	1479203	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C16orf91:NM_001010878:exon1:c.C143T:p.P48L,;ANNO=splicing:C16orf91
16	1484536	.	C	T	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC154(NM_001143980:c.1877-1G>A)
16	1488052	.	A	C	100	PASS	AC=21;STUDIES=5;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC154:NM_001143980:exon10:c.T1151G:p.L384R,;ANNO=splicing:CCDC154
16	1499093	.	G	A	100	PASS	AC=164;STUDIES=9;MAC=164;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CLCN7:NM_001114331:exon18:c.C1599T:p.G533G,CLCN7:NM_001287:exon19:c.C1671T:p.G557G,;ANNO=splicing:CLCN7
16	1515269	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CLCN7:NM_001287:exon2:c.C212T:p.P71L,;ANNO=splicing:CLCN7
16	1547104	.	G	C	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:TELO2:NM_016111:exon4:c.G681C:p.Q227H,;ANNO=nonsynonymous:TELO2:NM_016111:exon4:c.G681T:p.Q227H,;ANNO=splicing:TELO2;ANNO=splicing:TELO2
16	1549233	.	C	G	100	PASS	AC=17;STUDIES=4;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TELO2:NM_016111:exon6:c.C832G:p.P278A,;ANNO=splicing:TELO2
16	1552761	.	C	T	100	PASS	AC=466;STUDIES=17;MAC=466;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TELO2:NM_016111:exon14:c.C1769T:p.P590L,;ANNO=splicing:TELO2
16	1555601	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TELO2:NM_016111:exon16:c.A2033G:p.K678R,;ANNO=splicing:TELO2
16	1570047	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IFT140:NM_014714:exon29:c.T3875C:p.V1292A,;ANNO=splicing:IFT140
16	1584556	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TMEM204:NM_024600:exon1:c.C280T:p.L94L,;ANNO=splicing:TMEM204
16	1642177	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IFT140:NM_014714:exon6:c.G634A:p.G212R,;ANNO=splicing:IFT140
16	1705879	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CRAMP1L:NM_020825:exon9:c.G1121A:p.R374Q,;ANNO=splicing:CRAMP1L
16	1712672	.	T	C	100	PASS	AC=40;STUDIES=7;MAC=40;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CRAMP1L:NM_020825:exon11:c.T2595C:p.S865S,;ANNO=splicing:CRAMP1L
16	1813658	.	C	T	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MAPK8IP3:NM_001040439:exon16:c.C1878T:p.D626D,MAPK8IP3:NM_015133:exon17:c.C1896T:p.D632D,;ANNO=splicing:MAPK8IP3
16	1815178	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:MAPK8IP3:NM_001040439:exon19:c.C2424G:p.P808P,MAPK8IP3:NM_015133:exon20:c.C2442G:p.P814P,;ANNO=synonymous:MAPK8IP3:NM_001040439:exon19:c.C2424T:p.P808P,MAPK8IP3:NM_015133:exon20:c.C2442T:p.P814P,;ANNO=splicing:MAPK8IP3;ANNO=splicing:MAPK8IP3
16	1816905	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MAPK8IP3:NM_001040439:exon24:c.G3000A:p.V1000V,MAPK8IP3:NM_015133:exon25:c.G3018A:p.V1006V,;ANNO=splicing:MAPK8IP3
16	1821410	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NME3:NM_002513:exon2:c.C48T:p.A16A,;ANNO=splicing:NME3
16	1825189	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EME2:NM_001010865:exon4:c.G625C:p.G209R,;ANNO=splicing:EME2
16	1837678	.	C	T	100	PASS	AC=50;STUDIES=13;MAC=50;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NUBP2:NM_012225:exon4:c.C335T:p.A112V,;ANNO=splicing:NUBP2
16	1838051	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:NUBP2:NM_012225:exon5:c.C599T:p.T200M,;ANNO=splicing:NUBP2
16	1838052	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=synonymous:NUBP2:NM_012225:exon5:c.G600A:p.T200T,;ANNO=splicing:NUBP2
16	1962206	.	C	T	100	PASS	AC=134;STUDIES=16;MAC=134;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HS3ST6:NM_001009606:exon2:c.G321A:p.R107R,;ANNO=splicing:HS3ST6
16	1995499	.	C	T	100	PASS	AC=31;STUDIES=9;MAC=31;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RPL3L(NM_005061:c.1167+1G>A)
16	2000846	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RPL3L:NM_005061:exon4:c.A500G:p.Q167R,;ANNO=splicing:RPL3L
16	2012499	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:RPS2:NM_002952:exon6:c.C708T:p.F236F,;ANNO=splicing:RPS2
16	2024765	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TBL3:NM_006453:exon6:c.T381C:p.G127G,;ANNO=splicing:TBL3
16	2028151	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=synonymous:TBL3:NM_006453:exon20:c.C2064T:p.A688A,;ANNO=splicing:TBL3
16	2035868	.	C	T	100	PASS	AC=4278;STUDIES=22;MAC=4278;MAF=0.178;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GFER:NM_005262:exon3:c.C457T:p.L153L,;ANNO=splicing:GFER
16	2050392	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZNF598:NM_178167:exon8:c.G1294A:p.A432T,;ANNO=splicing:ZNF598
16	2121617	.	T	C	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TSC2:NM_001114382:exon18:c.T1946C:p.M649T,TSC2:NM_001077183:exon18:c.T1946C:p.M649T,TSC2:NM_000548:exon18:c.T1946C:p.M649T,;ANNO=splicing:TSC2
16	2134230	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TSC2:NM_001114382:exon33:c.C3938T:p.S1313L,TSC2:NM_001077183:exon32:c.C3806T:p.S1269L,TSC2:NM_000548:exon34:c.C4007T:p.S1336L,;ANNO=splicing:TSC2
16	2143546	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PKD1:NM_001009944:exon37:c.G11015A:p.R3672Q,PKD1:NM_000296:exon37:c.G11012A:p.R3671Q,;ANNO=splicing:PKD1
16	2144014	.	C	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PKD1:NM_001009944:exon36:c.G10619C:p.G3540A,PKD1:NM_000296:exon36:c.G10616C:p.G3539A,;ANNO=splicing:PKD1
16	2147777	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:PKD1:NM_001009944:exon32:c.C10172T:p.A3391V,PKD1:NM_000296:exon32:c.C10169T:p.A3390V,;ANNO=splicing:PKD1
16	2153267	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:PKD1:NM_001009944:exon23:c.G8791A:p.G2931S,PKD1:NM_000296:exon23:c.G8791A:p.G2931S,;ANNO=splicing:PKD1
16	2200051	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RAB26:NM_014353:exon2:c.G305A:p.R102Q,;ANNO=splicing:RAB26
16	2218079	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TRAF7:NM_032271:exon4:c.T141C:p.A47A,;ANNO=splicing:TRAF7
16	2257346	.	C	T	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MLST8:NM_001199174:exon6:c.C573T:p.T191T,MLST8:NM_022372:exon6:c.C573T:p.T191T,MLST8:NM_001199175:exon6:c.C570T:p.T190T,MLST8:NM_001199173:exon6:c.C573T:p.T191T,;ANNO=splicing:MLST8
16	2259552	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C16orf79(NM_182563:c.592+2T>C)
16	2287649	.	A	C	100	PASS	AC=51;STUDIES=14;MAC=51;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNASE1L2:NM_001374:exon5:c.A590C:p.D197A,;ANNO=splicing:DNASE1L2
16	2287651	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNASE1L2(NM_001374:c.591+1G>A)
16	2293318	.	C	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ECI1(NM_001919:c.563+1G>T)
16	2335647	.	C	T	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABCA3:NM_001089:exon23:c.G3279A:p.E1093E,;ANNO=splicing:ABCA3
16	2338028	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ABCA3:NM_001089:exon21:c.C3003T:p.L1001L,;ANNO=splicing:ABCA3
16	2367764	.	T	A	100	PASS	AC=71;STUDIES=14;MAC=71;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCA3:NM_001089:exon9:c.A875T:p.E292V,;ANNO=splicing:ABCA3
16	2374406	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ABCA3:NM_001089:exon6:c.C446T:p.A149V,;ANNO=splicing:ABCA3
16	2498978	.	G	A	100	PASS	AC=41;STUDIES=15;MAC=41;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCNF:NM_001761:exon11:c.G1217A:p.R406Q,;ANNO=splicing:CCNF
16	2752354	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KCTD5:NM_018992:exon5:c.T550C:p.L184L,;ANNO=splicing:KCTD5
16	2766526	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PRSS27:NM_031948:exon2:c.G48A:p.G16G,;ANNO=splicing:PRSS27
16	2809402	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SRRM2:NM_016333:exon8:c.C739T:p.R247W,;ANNO=splicing:SRRM2
16	2871111	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRSS21(NM_006799:c.705+1G>A,NM_144956:c.699+1G>A)
16	2906253	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PRSS22:NM_022119:exon3:c.T111A:p.V37V,;ANNO=splicing:PRSS22
16	2983582	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FLYWCH1:NM_020912:exon5:c.G1245A:p.P415P,FLYWCH1:NM_032296:exon5:c.G1245A:p.P415P,;ANNO=splicing:FLYWCH1
16	3024001	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PKMYT1:NM_004203:exon7:c.G1310A:p.G437E,PKMYT1:NM_182687:exon7:c.G1310A:p.G437D,;ANNO=splicing:PKMYT1
16	3076587	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:THOC6:NM_001142350:exon7:c.C482T:p.T161M,THOC6:NM_024339:exon7:c.C482T:p.T161M,;ANNO=splicing:THOC6
16	3077171	.	G	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:THOC6:NM_001142350:exon11:c.G700C:p.V234L,THOC6:NM_024339:exon11:c.G700C:p.V234L,;ANNO=splicing:THOC6
16	3107035	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MMP25:NM_022468:exon5:c.C663T:p.D221D,;ANNO=splicing:MMP25
16	3117378	.	G	A	100	PASS	AC=104;STUDIES=7;MAC=104;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:IL32:NM_004221:exon3:c.G16A:p.V6I,IL32:NM_001012633:exon3:c.G16A:p.V6I,IL32:NM_001012718:exon3:c.G16A:p.V6I,IL32:NM_001012634:exon3:c.G16A:p.V6I,IL32:NM_001012631:exon4:c.G16A:p.V6I,IL32:NM_001012632:exon3:c.G16A:p.V6I,IL32:NM_001012635:exon3:c.G16A:p.V6I,IL32:NM_001012636:exon2:c.G16A:p.V6I,;ANNO=nonsynonymous:IL32:NM_004221:exon3:c.G16T:p.V6F,IL32:NM_001012633:exon3:c.G16T:p.V6F,IL32:NM_001012718:exon3:c.G16T:p.V6F,IL32:NM_001012634:exon3:c.G16T:p.V6F,IL32:NM_001012631:exon4:c.G16T:p.V6F,IL32:NM_001012632:exon3:c.G16T:p.V6F,IL32:NM_001012635:exon3:c.G16T:p.V6F,IL32:NM_001012636:exon2:c.G16T:p.V6F,;ANNO=splicing:IL32;ANNO=splicing:IL32
16	3118239	.	C	T	100	PASS	AC=69;STUDIES=14;MAC=69;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IL32:NM_004221:exon6:c.C200T:p.P67L,IL32:NM_001012633:exon6:c.C200T:p.P67L,IL32:NM_001012718:exon6:c.C200T:p.P67L,IL32:NM_001012634:exon5:c.C140T:p.P47L,IL32:NM_001012631:exon7:c.C200T:p.P67L,IL32:NM_001012632:exon6:c.C200T:p.P67L,IL32:NM_001012635:exon5:c.C140T:p.P47L,IL32:NM_001012636:exon4:c.C173T:p.P58L,;ANNO=splicing:IL32
16	3118240	.	A	G	100	PASS	AC=61;STUDIES=13;MAC=61;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IL32:NM_004221:exon6:c.A201G:p.P67P,IL32:NM_001012633:exon6:c.A201G:p.P67P,IL32:NM_001012718:exon6:c.A201G:p.P67P,IL32:NM_001012634:exon5:c.A141G:p.P47P,IL32:NM_001012631:exon7:c.A201G:p.P67P,IL32:NM_001012632:exon6:c.A201G:p.P67P,IL32:NM_001012635:exon5:c.A141G:p.P47P,IL32:NM_001012636:exon4:c.A174G:p.P58P,;ANNO=splicing:IL32
16	3141540	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZSCAN10(NM_032805:c.622+1G>A)
16	3166547	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZNF205:NM_001042428:exon5:c.G483A:p.L161L,ZNF205:NM_003456:exon5:c.G483A:p.L161L,;ANNO=splicing:ZNF205
16	3274612	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZNF200:NM_003454:exon5:c.A468G:p.A156A,ZNF200:NM_198088:exon5:c.A468G:p.A156A,ZNF200:NM_198087:exon5:c.A465G:p.A155A,;ANNO=splicing:ZNF200(NM_001145447:c.466-2A>G,NM_001145446:c.466-2A>G,NM_001145448:c.466-2A>G)
16	3282422	.	C	A	100	PASS	AC=91;STUDIES=8;MAC=91;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF200:NM_003454:exon4:c.G465T:p.L155L,ZNF200:NM_001145448:exon4:c.G465T:p.L155L,ZNF200:NM_001145447:exon4:c.G465T:p.L155L,ZNF200:NM_001145446:exon4:c.G465T:p.L155L,ZNF200:NM_198088:exon4:c.G465T:p.L155L,ZNF200:NM_198087:exon4:c.G462T:p.L154L,;ANNO=splicing:ZNF200
16	3282544	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF200:NM_003454:exon4:c.C343G:p.L115V,ZNF200:NM_001145448:exon4:c.C343G:p.L115V,ZNF200:NM_001145447:exon4:c.C343G:p.L115V,ZNF200:NM_001145446:exon4:c.C343G:p.L115V,ZNF200:NM_198088:exon4:c.C343G:p.L115V,ZNF200:NM_198087:exon4:c.C340G:p.L114V,;ANNO=splicing:ZNF200
16	3294255	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MEFV:NM_000243:exon8:c.T1758C:p.N586N,MEFV:NM_001198536:exon7:c.T1125C:p.N375N,;ANNO=splicing:MEFV
16	3304158	.	C	T	100	PASS	AC=104;STUDIES=11;MAC=104;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MEFV:NM_000243:exon2:c.G910A:p.G304R,;ANNO=splicing:MEFV
16	3490932	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF597:NM_152457:exon3:c.G35A:p.G12E,;ANNO=splicing:ZNF597
16	3526336	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NAT15:NM_001083600:exon2:c.G109A:p.E37K,NAT15:NM_001083601:exon3:c.G109A:p.E37K,NAT15:NM_024845:exon2:c.G109A:p.E37K,;ANNO=splicing:NAT15
16	3586123	.	A	G	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CLUAP1:NM_024793:exon8:c.A596G:p.E199G,CLUAP1:NM_015041:exon12:c.A1094G:p.E365G,;ANNO=splicing:CLUAP1
16	3593426	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NLRC3:NM_178844:exon17:c.G2939A:p.R980Q,;ANNO=splicing:NLRC3
16	3645607	.	A	G	100	PASS	AC=1510;STUDIES=21;MAC=1510;MAF=0.067;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLX4:NM_032444:exon9:c.T2012C:p.L671S,;ANNO=splicing:SLX4
16	3706185	.	A	G	100	PASS	AC=54;STUDIES=6;MAC=54;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNASE1:NM_005223:exon4:c.A319G:p.R107G,;ANNO=splicing:DNASE1
16	3707817	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DNASE1:NM_005223:exon8:c.G801A:p.L267L,;ANNO=splicing:DNASE1
16	3807376	.	T	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CREBBP:NM_004380:exon19:c.A3611T:p.Y1204F,CREBBP:NM_001079846:exon18:c.A3497T:p.Y1166F,;ANNO=splicing:CREBBP
16	4408366	.	A	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CORO7(NM_001201472:c.2403+2T>A,NM_001201473:c.2202+2T>A,NM_024535:c.2457+2T>A),CORO7-PAM16(NM_001201479:c.2457+2T>A)
16	4414415	.	C	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CORO7(NM_001201472:c.1083-1G>C,NM_001201473:c.882-1G>C,NM_024535:c.1137-1G>C),CORO7-PAM16(NM_001201479:c.1137-1G>C)
16	4438070	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CORO7(NM_001201472:c.648-1G>A,NM_001201473:c.447-1G>A,NM_024535:c.702-1G>A),CORO7-PAM16(NM_001201479:c.702-1G>A)
16	4487486	.	G	A	100	PASS	AC=323;STUDIES=20;MAC=323;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DNAJA3:NM_001135110:exon3:c.G429A:p.E143E,DNAJA3:NM_005147:exon3:c.G429A:p.E143E,;ANNO=splicing:DNAJA3
16	4493164	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DNAJA3:NM_001135110:exon6:c.A930G:p.A310A,DNAJA3:NM_005147:exon6:c.A930G:p.A310A,;ANNO=splicing:DNAJA3
16	4497014	.	C	T	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAJA3:NM_001135110:exon8:c.C1124T:p.T375M,DNAJA3:NM_005147:exon8:c.C1124T:p.T375M,;ANNO=splicing:DNAJA3
16	4563698	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C16orf5:NM_001199054:exon4:c.G240A:p.P80P,C16orf5:NM_013399:exon4:c.G240A:p.P80P,C16orf5:NM_001199055:exon4:c.G240A:p.P80P,;ANNO=splicing:C16orf5
16	4642369	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LOC342346(NM_001145011:c.2774+1G>A)
16	4649366	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LOC342346(NM_001145011:c.3208+1G>A)
16	4723657	.	G	T	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MGRN1:NM_001142291:exon10:c.G954T:p.L318L,MGRN1:NM_015246:exon10:c.G954T:p.L318L,MGRN1:NM_001142290:exon10:c.G954T:p.L318L,MGRN1:NM_001142289:exon10:c.G954T:p.L318L,;ANNO=splicing:MGRN1
16	4748802	.	T	C	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ANKS3:NM_133450:exon13:c.A1550G:p.K517R,;ANNO=splicing:ANKS3
16	4790660	.	G	A	100	PASS	AC=23;STUDIES=4;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C16orf71:NM_139170:exon4:c.G783A:p.Q261Q,;ANNO=splicing:C16orf71
16	4793161	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C16orf71:NM_139170:exon5:c.G901A:p.D301N,;ANNO=splicing:C16orf71
16	4797026	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C16orf71:NM_139170:exon8:c.G1280A:p.R427Q,;ANNO=splicing:C16orf71
16	4812572	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF500(NM_021646:c.598+2T>A)
16	4828087	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SEPT12:NM_144605:exon9:c.G875A:p.R292H,SEPT12:NM_001154458:exon8:c.G737A:p.R246H,;ANNO=splicing:SEPT12
16	4847841	.	G	A	100	PASS	AC=71;STUDIES=7;MAC=71;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ROGDI:NM_024589:exon10:c.C696T:p.F232F,;ANNO=splicing:ROGDI
16	4864538	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GLYR1:NM_032569:exon11:c.C1017T:p.D339D,;ANNO=splicing:GLYR1
16	4867599	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GLYR1:NM_032569:exon10:c.A906T:p.K302N,;ANNO=splicing:GLYR1
16	4908664	.	G	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=synonymous:UBN1:NM_016936:exon3:c.G432A:p.A144A,UBN1:NM_001079514:exon4:c.G432A:p.A144A,;ANNO=splicing:UBN1
16	4924212	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UBN1:NM_016936:exon14:c.G1801A:p.E601K,UBN1:NM_001079514:exon15:c.G1801A:p.E601K,;ANNO=splicing:UBN1
16	4940185	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PPL:NM_002705:exon18:c.G2313A:p.K771K,;ANNO=splicing:PPL
16	4952527	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PPL:NM_002705:exon4:c.T318C:p.D106D,;ANNO=splicing:PPL
16	4960852	.	C	G	100	PASS	AC=26;STUDIES=11;MAC=26;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PPL:NM_002705:exon2:c.G161C:p.S54T,;ANNO=splicing:PPL
16	5009387	.	G	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SEC14L5:NM_014692:exon2:c.G63A:p.A21A,;ANNO=splicing:SEC14L5
16	8620007	.	G	A	100	PASS	AC=32;STUDIES=4;MAC=32;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMEM114:NM_001146336:exon2:c.C139T:p.P47S,;ANNO=splicing:TMEM114
16	8719655	.	G	A	100	PASS	AC=28;STUDIES=6;MAC=28;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:METTL22:NM_024109:exon2:c.G133A:p.V45I,;ANNO=splicing:METTL22
16	8839954	.	A	G	100	PASS	AC=13809;STUDIES=22;MAC=10509;MAF=0.432;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABAT:NM_000663:exon3:c.A167G:p.Q56R,ABAT:NM_001127448:exon3:c.A167G:p.Q56R,ABAT:NM_020686:exon3:c.A167G:p.Q56R,;ANNO=splicing:ABAT
16	8898700	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PMM2:NM_000303:exon3:c.G255A:p.Q85Q,;ANNO=splicing:PMM2
16	8898702	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PMM2(NM_000303:c.255+2T>C)
16	8953028	.	G	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:CARHSP1:NM_001042476:exon2:c.C158A:p.A53E,CARHSP1:NM_014316:exon2:c.C158A:p.A53E,;ANNO=splicing:CARHSP1
16	9000284	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:USP7:NM_003470:exon13:c.A1427G:p.K476R,;ANNO=splicing:USP7
16	10527383	.	C	A	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ATF7IP2:NM_024997:exon3:c.C837A:p.S279R,;ANNO=splicing:ATF7IP2
16	10850636	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NUBP1:NM_002484:exon6:c.C450T:p.N150N,;ANNO=splicing:NUBP1
16	11016264	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CIITA:NM_000246:exon18:c.C3234T:p.D1078D,;ANNO=splicing:CIITA
16	11794420	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TXNDC11:NM_015914:exon6:c.A794G:p.D265G,;ANNO=splicing:TXNDC11
16	11855766	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZC3H7A:NM_014153:exon18:c.C2213T:p.S738L,;ANNO=splicing:ZC3H7A
16	11868093	.	A	G	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZC3H7A:NM_014153:exon9:c.T902C:p.M301T,;ANNO=splicing:ZC3H7A
16	11868869	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZC3H7A:NM_014153:exon8:c.G586T:p.A196S,;ANNO=splicing:ZC3H7A
16	11933553	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RSL1D1:NM_015659:exon8:c.A1145G:p.E382G,;ANNO=splicing:RSL1D1
16	12450136	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SNX29:NM_001080530:exon9:c.G744A:p.P248P,;ANNO=splicing:SNX29
16	12798481	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CPPED1:NM_018340:exon3:c.G715A:p.G239S,;ANNO=splicing:CPPED1
16	14026142	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ERCC4:NM_005236:exon6:c.G1102A:p.E368K,;ANNO=splicing:ERCC4
16	14687159	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PARN:NM_002582:exon13:c.C917T:p.T306I,PARN:NM_001134477:exon13:c.A734T:p.K245M,;ANNO=splicing:PARN
16	14693761	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PARN:NM_002582:exon12:c.A840A:p.E280E,PARN:NM_001134477:exon12:c.T657A:p.T219T,;ANNO=splicing:PARN
16	15102705	.	G	A	100	PASS	AC=58;STUDIES=3;MAC=58;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:PDXDC1(NM_015027:c.648+1G>A)
16	15120501	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:PDXDC1:NM_015027:exon14:c.T1142G:p.V381G,;ANNO=splicing:PDXDC1
16	15178499	.	G	A	100	PASS	AC=397;STUDIES=5;MAC=397;MAF=0.199;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=13;ANNO=nonsynonymous:RRN3:NM_018427:exon7:c.C596T:p.S199L,;ANNO=splicing:RRN3
16	15186470	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RRN3:NM_018427:exon2:c.A91G:p.I31V,;ANNO=splicing:RRN3
16	15703380	.	T	C	100	PASS	AC=55;STUDIES=8;MAC=55;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KIAA0430:NM_001184999:exon20:c.A3945G:p.Q1315Q,KIAA0430:NM_014647:exon20:c.A3954G:p.Q1318Q,KIAA0430:NM_001184998:exon20:c.A3954G:p.Q1318Q,;ANNO=splicing:KIAA0430
16	15725238	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA0430:NM_001184999:exon6:c.A1342G:p.T448A,KIAA0430:NM_014647:exon6:c.A1351G:p.T451A,KIAA0430:NM_001184998:exon6:c.A1351G:p.T451A,;ANNO=splicing:KIAA0430
16	15847252	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MYH11:NM_001040114:exon16:c.C1884T:p.D628D,MYH11:NM_002474:exon15:c.C1863T:p.D621D,MYH11:NM_001040113:exon16:c.C1884T:p.D628D,MYH11:NM_022844:exon15:c.C1863T:p.D621D,;ANNO=splicing:MYH11
16	15870032	.	A	G	100	PASS	AC=793;STUDIES=21;MAC=793;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MYH11:NM_001040114:exon9:c.T813C:p.Y271Y,MYH11:NM_002474:exon8:c.T792C:p.Y264Y,MYH11:NM_001040113:exon9:c.T813C:p.Y271Y,MYH11:NM_022844:exon8:c.T792C:p.Y264Y,;ANNO=splicing:MYH11
16	16165585	.	C	T	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABCC1:NM_019862:exon14:c.C1911T:p.D637D,ABCC1:NM_019899:exon14:c.C1911T:p.D637D,ABCC1:NM_019900:exon14:c.C1911T:p.D637D,ABCC1:NM_019898:exon14:c.C1911T:p.D637D,ABCC1:NM_004996:exon14:c.C1911T:p.D637D,;ANNO=splicing:ABCC1
16	16170258	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCC1:NM_019862:exon15:c.G1988A:p.G663D,ABCC1:NM_019899:exon15:c.G1988A:p.G663D,ABCC1:NM_019900:exon15:c.G1988A:p.G663D,ABCC1:NM_019898:exon15:c.G1988A:p.G663D,ABCC1:NM_004996:exon15:c.G1988A:p.G663D,;ANNO=splicing:ABCC1
16	16244628	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCC6:NM_001171:exon30:c.G4210A:p.V1404M,;ANNO=splicing:ABCC6
16	16267140	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCC6(NM_001171:c.2787+1G>T)
16	16302586	.	T	C	100	PASS	AC=322;STUDIES=10;MAC=322;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:ABCC6:NM_001171:exon7:c.A793G:p.R265G,;ANNO=splicing:ABCC6
16	16357502	.	G	A	100	PASS	AC=42;STUDIES=2;MAC=42;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:NOMO3(NM_001004067:c.1669+1G>A)
16	18511697	.	C	A	100	PASS	AC=37;STUDIES=2;MAC=37;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=synonymous:NOMO2:NM_173614:exon31:c.G3666T:p.T1222T,;ANNO=splicing:NOMO2(NM_001004060:c.3665+1G>T)
16	18861272	.	T	C	100	PASS	AC=62;STUDIES=6;MAC=62;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SMG1:NM_015092:exon35:c.A5460G:p.R1820R,;ANNO=splicing:SMG1
16	18881315	.	T	C	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:SMG1:NM_015092:exon19:c.A2494G:p.N832D,;ANNO=splicing:SMG1
16	19020738	.	G	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMC7(NM_024847:c.311+1G>T)
16	19079058	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:COQ7:NM_016138:exon1:c.A72C:p.S24S,;ANNO=splicing:COQ7
16	19474688	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TMC5:NM_024780:exon3:c.G497A:p.R166Q,TMC5:NM_001105248:exon7:c.G1235A:p.R412Q,TMC5:NM_001105249:exon7:c.G1235A:p.R412Q,;ANNO=splicing:TMC5
16	19475099	.	C	A	100	PASS	AC=1144;STUDIES=22;MAC=1144;MAF=0.047;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMC5:NM_024780:exon4:c.C500A:p.A167D,TMC5:NM_001105248:exon8:c.C1238A:p.A413D,TMC5:NM_001105249:exon8:c.C1238A:p.A413D,;ANNO=splicing:TMC5
16	19485597	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:TMC5:NM_024780:exon8:c.C1351T:p.R451X,TMC5:NM_001105248:exon12:c.C2089T:p.R697X,TMC5:NM_001105249:exon12:c.C2089T:p.R697X,;ANNO=splicing:TMC5
16	19516203	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GDE1:NM_016641:exon5:c.C848T:p.P283L,;ANNO=splicing:GDE1
16	19528337	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GDE1:NM_016641:exon2:c.A436G:p.R146G,;ANNO=splicing:GDE1
16	19620343	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C16orf62:NM_020314:exon11:c.C1196T:p.T399M,;ANNO=splicing:C16orf62
16	19641142	.	G	A	100	PASS	AC=58;STUDIES=14;MAC=58;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C16orf62:NM_020314:exon18:c.G1821A:p.T607T,;ANNO=splicing:C16orf62
16	19710824	.	G	A	100	PASS	AC=46;STUDIES=12;MAC=46;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C16orf62:NM_020314:exon30:c.G2914A:p.A972T,;ANNO=splicing:C16orf62
16	19741815	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:IQCK:NM_153208:exon3:c.C245G:p.T82R,;ANNO=nonsynonymous:IQCK:NM_153208:exon3:c.C245T:p.T82M,;ANNO=splicing:IQCK;ANNO=splicing:IQCK
16	19745149	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IQCK:NM_153208:exon4:c.T376C:p.C126R,;ANNO=splicing:IQCK
16	19838349	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IQCK:NM_153208:exon9:c.T692C:p.V231A,;ANNO=splicing:IQCK
16	20322602	.	C	A	100	PASS	AC=110;STUDIES=11;MAC=110;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GP2:NM_001007242:exon10:c.G1107T:p.G369G,GP2:NM_001502:exon11:c.G1548T:p.G516G,GP2:NM_001007240:exon12:c.G1557T:p.G519G,GP2:NM_001007241:exon11:c.G1116T:p.G372G,;ANNO=splicing:GP2
16	20331091	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GP2(NM_001007240:c.867-1G>A,NM_001502:c.858-1G>A,NM_001007242:c.417-1G>A,NM_001007241:c.426-1G>A)
16	20348048	.	G	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UMOD:NM_003361:exon9:c.C1742A:p.T581N,UMOD:NM_001008389:exon9:c.C1742A:p.T581N,;ANNO=splicing:UMOD
16	20410421	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PDILT:NM_174924:exon2:c.C202T:p.H68Y,;ANNO=splicing:PDILT
16	20432724	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACSM5(NM_017888:c.767+1G>A)
16	20441122	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:ACSM5:NM_017888:exon8:c.C1124T:p.T375M,;ANNO=splicing:ACSM5
16	20441123	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:ACSM5:NM_017888:exon8:c.G1125A:p.T375T,;ANNO=splicing:ACSM5
16	20476840	.	C	T	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ACSM2A:NM_001010845:exon4:c.C179T:p.A60V,;ANNO=splicing:ACSM2A
16	20487094	.	C	T	100	PASS	AC=17;STUDIES=8;MAC=17;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:ACSM2A:NM_001010845:exon9:c.C1097T:p.T366M,;ANNO=splicing:ACSM2A
16	20551976	.	C	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ACSM2B:NM_001105069:exon13:c.G1629C:p.K543N,ACSM2B:NM_182617:exon14:c.G1629C:p.K543N,;ANNO=splicing:ACSM2B
16	20635418	.	C	T	100	PASS	AC=2830;STUDIES=19;MAC=2830;MAF=0.131;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:ACSM1:NM_052956:exon12:c.G1647A:p.K549K,;ANNO=splicing:ACSM1
16	20638638	.	C	T	100	PASS	AC=62;STUDIES=6;MAC=62;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACSM1:NM_052956:exon10:c.G1300A:p.G434S,;ANNO=splicing:ACSM1
16	20648162	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACSM1:NM_052956:exon9:c.G1198A:p.V400I,;ANNO=splicing:ACSM1
16	20781575	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:ACSM3:NM_005622:exon2:c.G219A:p.K73K,ACSM3:NM_202000:exon2:c.G219A:p.K73K,;ANNO=nonsynonymous:ACSM3:NM_005622:exon2:c.G219T:p.K73N,ACSM3:NM_202000:exon2:c.G219T:p.K73N,;ANNO=splicing:ACSM3;ANNO=splicing:ACSM3
16	20802172	.	C	T	100	PASS	AC=1789;STUDIES=22;MAC=1789;MAF=0.074;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ERI2:NM_080663:exon9:c.G815A:p.G272D,;ANNO=splicing:ERI2
16	20803558	.	C	T	100	PASS	AC=24;STUDIES=5;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ACSM3:NM_005622:exon12:c.C1455T:p.G485G,;ANNO=splicing:ACSM3
16	20927036	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LYRM1:NM_020424:exon2:c.T159C:p.N53N,LYRM1:NM_001128302:exon2:c.T159C:p.N53N,LYRM1:NM_001128301:exon3:c.T159C:p.N53N,;ANNO=splicing:LYRM1
16	20927037	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LYRM1(NM_020424:c.159+1G>A,NM_001128301:c.159+1G>A,NM_001128302:c.159+1G>A)
16	20946807	.	C	G	100	PASS	AC=24;STUDIES=9;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAH3:NM_017539:exon61:c.G11860C:p.E3954Q,;ANNO=splicing:DNAH3
16	20970725	.	G	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DNAH3:NM_017539:exon54:c.C10602T:p.G3534G,;ANNO=splicing:DNAH3
16	20994236	.	C	T	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAH3:NM_017539:exon49:c.G7666A:p.V2556I,;ANNO=splicing:DNAH3
16	21065741	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAH3:NM_017539:exon28:c.G4039T:p.A1347S,;ANNO=splicing:DNAH3
16	21080917	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNAH3(NM_017539:c.3201-2A>T)
16	21123315	.	G	A	100	PASS	AC=377;STUDIES=21;MAC=377;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAH3:NM_017539:exon13:c.C1919T:p.T640M,;ANNO=splicing:DNAH3
16	21739752	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:OTOA:NM_144672:exon19:c.G2207A:p.G736E,OTOA:NM_001161683:exon15:c.G1970A:p.G657E,OTOA:NM_170664:exon10:c.G1235A:p.G412E,;ANNO=splicing:OTOA
16	21994410	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:UQCRC2:NM_003366:exon14:c.C1280T:p.A427V,;ANNO=splicing:UQCRC2
16	22092016	.	G	A	100	PASS	AC=33;STUDIES=2;MAC=33;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C16orf52(NM_001164579:c.319-1G>A)
16	22130224	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VWA3A:NM_173615:exon12:c.A992G:p.H331R,;ANNO=splicing:VWA3A
16	22142602	.	T	C	100	PASS	AC=19;STUDIES=4;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VWA3A(NM_173615:c.1727+2T>C)
16	22262013	.	G	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EEF2K(NM_013302:c.446+1G>C)
16	22268572	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EEF2K(NM_013302:c.768-2A>G)
16	22270016	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EEF2K:NM_013302:exon10:c.C1231T:p.H411Y,;ANNO=splicing:EEF2K
16	22274431	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:EEF2K:NM_013302:exon12:c.G1300T:p.E434X,;ANNO=splicing:EEF2K
16	22291518	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EEF2K(NM_013302:c.1889-1G>A)
16	22325399	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:POLR3E(NM_018119:c.472-1G>A)
16	22361172	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDR2(NM_001802:c.192-2A>C)
16	23085200	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:USP31:NM_020718:exon14:c.G2178C:p.A726A,;ANNO=synonymous:USP31:NM_020718:exon14:c.G2178A:p.A726A,;ANNO=splicing:USP31;ANNO=splicing:USP31
16	23366809	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SCNN1B:NM_000336:exon4:c.C775T:p.R259W,;ANNO=splicing:SCNN1B
16	23379279	.	C	T	100	PASS	AC=1977;STUDIES=21;MAC=1977;MAF=0.084;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SCNN1B:NM_000336:exon5:c.C879T:p.F293F,;ANNO=splicing:SCNN1B
16	23456367	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COG7(NM_153603:c.435+2T>C)
16	23521643	.	G	C	100	PASS	AC=2853;STUDIES=7;MAC=377;MAF=0.117;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=8;ANNO=synonymous:GGA2:NM_015044:exon1:c.C90G:p.L30L,;ANNO=splicing:GGA2
16	23540823	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EARS2:NM_001083614:exon7:c.G1352T:p.G451V,;ANNO=splicing:EARS2
16	23649272	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PALB2:NM_024675:exon3:c.G110A:p.R37H,;ANNO=splicing:PALB2
16	23702450	.	C	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ERN2:NM_033266:exon21:c.G2712C:p.K904N,;ANNO=splicing:ERN2
16	23703506	.	G	T	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:ERN2:NM_033266:exon18:c.C2391T:p.H797H,;ANNO=nonsynonymous:ERN2:NM_033266:exon18:c.C2391A:p.H797Q,;ANNO=splicing:ERN2;ANNO=splicing:ERN2
16	23707215	.	C	T	100	PASS	AC=41;STUDIES=13;MAC=41;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ERN2:NM_033266:exon14:c.G1754A:p.R585Q,;ANNO=splicing:ERN2
16	23711860	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ERN2:NM_033266:exon13:c.G1669A:p.A557T,;ANNO=splicing:ERN2
16	24808891	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TNRC6A:NM_014494:exon10:c.G3642A:p.S1214S,;ANNO=splicing:TNRC6A
16	24909295	.	G	A	100	PASS	AC=18;STUDIES=11;MAC=18;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC5A11:NM_052944:exon10:c.G871A:p.V291M,;ANNO=splicing:SLC5A11
16	24955183	.	T	C	100	PASS	AC=1473;STUDIES=22;MAC=1473;MAF=0.061;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGAP17:NM_001006634:exon15:c.A1242G:p.G414G,ARHGAP17:NM_018054:exon15:c.A1242G:p.G414G,;ANNO=splicing:ARHGAP17
16	27268756	.	G	A	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NSMCE1:NM_145080:exon2:c.C136T:p.R46C,;ANNO=splicing:NSMCE1
16	27489852	.	C	T	100	PASS	AC=29;STUDIES=12;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GTF3C1:NM_001520:exon28:c.G4197A:p.R1399R,;ANNO=splicing:GTF3C1
16	27503938	.	C	T	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GTF3C1:NM_001520:exon18:c.G2973A:p.Q991Q,;ANNO=splicing:GTF3C1
16	27629821	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA0556:NM_015202:exon3:c.C139T:p.R47W,;ANNO=splicing:KIAA0556
16	27715321	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIAA0556(NM_015202:c.1389+2T>C)
16	27733016	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIAA0556:NM_015202:exon14:c.C1743A:p.G581G,;ANNO=splicing:KIAA0556
16	27789090	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA0556:NM_015202:exon26:c.A4711G:p.S1571G,;ANNO=splicing:KIAA0556
16	28330317	.	C	A	100	PASS	AC=214;STUDIES=19;MAC=214;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SBK1:NM_001024401:exon3:c.C228A:p.G76G,;ANNO=splicing:SBK1
16	28500611	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CLN3:NM_001042432:exon4:c.T222C:p.H74H,CLN3:NM_000086:exon3:c.T222C:p.H74H,;ANNO=splicing:CLN3
16	28503036	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CLN3:NM_001042432:exon2:c.G45A:p.E15E,CLN3:NM_000086:exon1:c.G45A:p.E15E,;ANNO=splicing:CLN3
16	28550117	.	C	G	100	PASS	AC=37;STUDIES=8;MAC=37;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NUPR1:NM_001042483:exon1:c.G112C:p.G38R,NUPR1:NM_012385:exon1:c.G112C:p.G38R,;ANNO=splicing:NUPR1
16	28607105	.	G	A	100	PASS	AC=27;STUDIES=4;MAC=27;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:SULT1A2:NM_001054:exon2:c.C147T:p.S49S,SULT1A2:NM_177528:exon2:c.C147T:p.S49S,;ANNO=splicing:SULT1A2
16	28618399	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SULT1A1(NM_177534:c.372-1G>C,NM_177530:c.372-1G>C,NM_177536:c.138-1G>C,NM_001055:c.372-1G>C,NM_177529:c.372-1G>C)
16	28620030	.	G	A	100	PASS	AC=23;STUDIES=2;MAC=23;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:SULT1A1:NM_177529:exon2:c.C147T:p.S49S,SULT1A1:NM_001055:exon2:c.C147T:p.S49S,SULT1A1:NM_177530:exon2:c.C147T:p.S49S,SULT1A1:NM_177534:exon1:c.C147T:p.S49S,;ANNO=splicing:SULT1A1
16	28631383	.	C	G	100	PASS	AC=119;STUDIES=7;MAC=119;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SULT1A1(NM_177536:c.138+1G>C)
16	28734483	.	A	G	100	PASS	AC=145;STUDIES=3;MAC=145;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:EIF3C(NM_001199142:c.776-2A>G,NM_001037808:c.776-2A>G)
16	28997537	.	C	T	100	PASS	AC=21;STUDIES=8;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LAT:NM_001014989:exon5:c.C353T:p.P118L,LAT:NM_014387:exon4:c.C245T:p.P82L,LAT:NM_001014988:exon4:c.C245T:p.P82L,LAT:NM_001014987:exon4:c.C245T:p.P82L,;ANNO=splicing:LAT
16	29791425	.	T	A	100	PASS	AC=38;STUDIES=3;MAC=38;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZG16:NM_152338:exon4:c.T189A:p.G63G,;ANNO=splicing:ZG16
16	29825949	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRRT2:NM_145239:exon4:c.T1013C:p.V338A,;ANNO=splicing:PRRT2
16	29847120	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MVP(NM_005115:c.672+1G>A,NM_017458:c.672+1G>A)
16	29851499	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MVP:NM_017458:exon8:c.G910A:p.G304R,MVP:NM_005115:exon8:c.G910A:p.G304R,;ANNO=splicing:MVP
16	29853160	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MVP:NM_017458:exon9:c.C1435T:p.R479C,MVP:NM_005115:exon9:c.C1435T:p.R479C,;ANNO=splicing:MVP
16	29853236	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MVP:NM_017458:exon10:c.C1437G:p.R479R,MVP:NM_005115:exon10:c.C1437G:p.R479R,;ANNO=splicing:MVP
16	30002286	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TAOK2:NM_004783:exon18:c.G2627A:p.R876Q,;ANNO=splicing:TAOK2
16	30007713	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:INO80E(NM_173618:c.81+1G>C)
16	30081151	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ALDOA:NM_184041:exon8:c.G800C:p.G267A,ALDOA:NM_001127617:exon8:c.G800C:p.G267A,ALDOA:NM_000034:exon13:c.G800C:p.G267A,ALDOA:NM_184043:exon8:c.G800C:p.G267A,;ANNO=splicing:ALDOA
16	30092631	.	A	G	100	PASS	AC=54;STUDIES=14;MAC=54;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PPP4C:NM_002720:exon3:c.A150G:p.T50T,;ANNO=splicing:PPP4C
16	30116330	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GDPD3:NM_024307:exon10:c.G820A:p.V274M,;ANNO=splicing:GDPD3
16	30123452	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GDPD3(NM_024307:c.573+1G>A)
16	30123453	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GDPD3:NM_024307:exon6:c.C573T:p.A191A,;ANNO=splicing:GDPD3
16	30387850	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYLPF(NM_013292:c.277+2T>C)
16	30393595	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SEPT1(NM_052838:c.94+1G>A)
16	30510810	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ITGAL:NM_001114380:exon15:c.G1896A:p.P632P,ITGAL:NM_002209:exon17:c.G2145A:p.P715P,;ANNO=splicing:ITGAL
16	30516565	.	C	A	100	PASS	AC=431;STUDIES=10;MAC=431;MAF=0.035;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITGAL:NM_002209:exon19:c.C2236A:p.Q746K,;ANNO=splicing:ITGAL
16	30516569	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:ITGAL:NM_001114380:exon17:c.G1988A:p.G663D,ITGAL:NM_002209:exon19:c.G2240A:p.G747D,;ANNO=splicing:ITGAL
16	30537371	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF768:NM_024671:exon2:c.C90T:p.G30G,;ANNO=splicing:ZNF768
16	30544474	.	T	C	100	PASS	AC=44;STUDIES=5;MAC=44;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:ZNF747(NM_023931:c.483-2A>G)
16	30567428	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:ZNF764:NM_001172679:exon3:c.A311G:p.D104G,ZNF764:NM_033410:exon3:c.A314G:p.D105G,;ANNO=splicing:ZNF764
16	30583443	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZNF688:NM_001024683:exon1:c.G154A:p.G52R,;ANNO=splicing:ZNF688
16	30594764	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZNF785:NM_152458:exon3:c.G335T:p.G112V,;ANNO=splicing:ZNF785
16	30664041	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:PRR14(NM_024031:c.192-1G>C);ANNO=splicing:PRR14(NM_024031:c.192-1G>T)
16	30715386	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SRCAP:NM_006662:exon4:c.T56A:p.M19K,;ANNO=splicing:SRCAP
16	30720835	.	T	G	100	PASS	AC=44;STUDIES=3;MAC=44;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:SRCAP:NM_006662:exon7:c.T635G:p.V212G,;ANNO=splicing:SRCAP
16	30723156	.	A	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SRCAP:NM_006662:exon12:c.A1493T:p.D498V,;ANNO=splicing:SRCAP
16	30723759	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SRCAP:NM_006662:exon13:c.A1992G:p.K664K,;ANNO=splicing:SRCAP
16	30732510	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SRCAP:NM_006662:exon21:c.T3254C:p.V1085A,;ANNO=splicing:SRCAP
16	30744602	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SRCAP:NM_006662:exon28:c.A6129G:p.G2043G,;ANNO=splicing:SRCAP
16	30764715	.	G	A	100	PASS	AC=48;STUDIES=13;MAC=48;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PHKG2:NM_001172432:exon6:c.G393A:p.R131R,PHKG2:NM_000294:exon6:c.G393A:p.R131R,;ANNO=splicing:PHKG2
16	30771928	.	C	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C16orf93:NM_001014979:exon3:c.G298C:p.E100Q,C16orf93:NM_001195620:exon3:c.G298C:p.E100Q,;ANNO=splicing:C16orf93
16	30970202	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SETD1A:NM_014712:exon2:c.C150T:p.N50N,;ANNO=splicing:SETD1A
16	30974874	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SETD1A:NM_014712:exon5:c.C638T:p.T213M,;ANNO=splicing:SETD1A
16	31138409	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MYST1:NM_032188:exon4:c.G516A:p.A172A,MYST1:NM_182958:exon4:c.G516A:p.A172A,;ANNO=splicing:MYST1
16	31155160	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRSS36(NM_173502:c.720-2A>C)
16	31159715	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRSS36(NM_173502:c.553+1G>A)
16	31201719	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FUS:NM_001170634:exon12:c.C1289T:p.P430L,FUS:NM_004960:exon12:c.C1292T:p.P431L,FUS:NM_001170937:exon12:c.C1280T:p.P427L,;ANNO=splicing:FUS
16	31273118	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ITGAM:NM_000632:exon2:c.G134A:p.R45K,ITGAM:NM_001145808:exon2:c.G134A:p.R45K,;ANNO=splicing:ITGAM
16	31367318	.	T	C	100	PASS	AC=2436;STUDIES=21;MAC=2436;MAF=0.104;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITGAX:NM_000887:exon2:c.T142C:p.W48R,;ANNO=splicing:ITGAX
16	31373229	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITGAX:NM_000887:exon10:c.C1085T:p.P362L,;ANNO=splicing:ITGAX
16	31374256	.	A	C	100	PASS	AC=26;STUDIES=5;MAC=26;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ITGAX:NM_000887:exon13:c.A1360C:p.I454L,;ANNO=splicing:ITGAX
16	31388400	.	G	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITGAX:NM_000887:exon22:c.G2705T:p.S902I,;ANNO=splicing:ITGAX
16	31392219	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:ITGAX:NM_000887:exon29:c.C3278A:p.T1093K,;ANNO=nonsynonymous:ITGAX:NM_000887:exon29:c.C3278T:p.T1093M,;ANNO=splicing:ITGAX;ANNO=splicing:ITGAX
16	31429512	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ITGAD:NM_005353:exon21:c.C2616T:p.N872N,;ANNO=splicing:ITGAD
16	31435523	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:ITGAD:NM_005353:exon28:c.A3260G:p.Q1087R,;ANNO=splicing:ITGAD
16	31439177	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COX6A2:NM_005205:exon3:c.C212T:p.P71L,;ANNO=splicing:COX6A2
16	31501553	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC5A2(NM_003041:c.1792+2T>C)
16	31510730	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C16orf58(NM_022744:c.494-2A>G)
16	31519086	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C16orf58:NM_022744:exon2:c.A414G:p.K138K,;ANNO=splicing:C16orf58
16	31765220	.	G	A	100	PASS	AC=776;STUDIES=8;MAC=776;MAF=0.097;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:ZNF720:NM_001130913:exon4:c.G360A:p.E120E,;ANNO=splicing:ZNF720
16	31885289	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZNF267:NM_003414:exon1:c.T2C:p.M1T,;ANNO=splicing:ZNF267
16	46633744	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SHCBP1:NM_024745:exon9:c.A1344G:p.L448L,;ANNO=splicing:SHCBP1
16	46651661	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SHCBP1:NM_024745:exon3:c.C272T:p.A91V,;ANNO=splicing:SHCBP1
16	46755104	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYLK3:NM_182493:exon9:c.C1916T:p.P639L,;ANNO=splicing:MYLK3
16	46761289	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MYLK3:NM_182493:exon8:c.C1773T:p.Y591Y,;ANNO=splicing:MYLK3
16	46993041	.	C	T	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DNAJA2:NM_005880:exon8:c.G921A:p.G307G,;ANNO=splicing:DNAJA2
16	47271876	.	T	C	100	PASS	AC=1379;STUDIES=22;MAC=1379;MAF=0.059;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ITFG1:NM_030790:exon13:c.A1374G:p.T458T,;ANNO=splicing:ITFG1
16	47694729	.	A	G	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PHKB:NM_001031835:exon23:c.A2174G:p.N725S,PHKB:NM_000293:exon22:c.A2195G:p.N732S,;ANNO=splicing:PHKB
16	47703327	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PHKB:NM_001031835:exon27:c.G2608A:p.G870R,PHKB:NM_000293:exon26:c.G2629A:p.G877R,;ANNO=splicing:PHKB
16	48117713	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCC12(NM_033226:c.3993-1G>A)
16	48122456	.	C	T	100	PASS	AC=170;STUDIES=9;MAC=170;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ABCC12:NM_033226:exon24:c.G3475A:p.G1159R,;ANNO=splicing:ABCC12
16	48134784	.	A	G	100	PASS	AC=915;STUDIES=14;MAC=915;MAF=0.051;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:ABCC12:NM_033226:exon21:c.T3037C:p.Y1013H,;ANNO=splicing:ABCC12
16	48141231	.	A	G	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCC12(NM_033226:c.2475+2T>C)
16	48204130	.	C	T	100	PASS	AC=253;STUDIES=17;MAC=253;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCC11(NM_033151:c.3777-1G>A,NM_032583:c.3777-1G>A)
16	48232185	.	T	C	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCC11:NM_145186:exon16:c.A2084G:p.Y695C,ABCC11:NM_033151:exon15:c.A2084G:p.Y695C,ABCC11:NM_032583:exon16:c.A2084G:p.Y695C,;ANNO=splicing:ABCC11
16	48237138	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCC11(NM_033151:c.1878+1G>A,NM_032583:c.1878+1G>A,NM_145186:c.1878+1G>A)
16	48239324	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ABCC11:NM_145186:exon13:c.G1805A:p.R602Q,ABCC11:NM_033151:exon12:c.G1805A:p.R602Q,ABCC11:NM_032583:exon13:c.G1805A:p.R602Q,;ANNO=splicing:ABCC11
16	48250026	.	G	T	100	PASS	AC=2720;STUDIES=21;MAC=2720;MAF=0.116;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:ABCC11:NM_145186:exon7:c.C950A:p.A317E,ABCC11:NM_033151:exon6:c.C950A:p.A317E,ABCC11:NM_032583:exon7:c.C950A:p.A317E,;ANNO=splicing:ABCC11
16	48258340	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCC11:NM_145186:exon5:c.G396T:p.R132S,ABCC11:NM_033151:exon4:c.G396T:p.R132S,ABCC11:NM_032583:exon5:c.G396T:p.R132S,;ANNO=splicing:ABCC11
16	50112929	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HEATR3:NM_182922:exon7:c.G1041A:p.P347P,;ANNO=splicing:HEATR3
16	50334994	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADCY7:NM_001114:exon9:c.C1237T:p.R413W,;ANNO=splicing:ADCY7
16	50343459	.	C	T	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADCY7:NM_001114:exon17:c.C2062T:p.P688S,;ANNO=splicing:ADCY7
16	50343557	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ADCY7:NM_001114:exon17:c.G2160A:p.P720P,;ANNO=splicing:ADCY7
16	50402208	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:BRD7:NM_013263:exon2:c.G51C:p.E17D,BRD7:NM_001173984:exon2:c.G51C:p.E17D,;ANNO=synonymous:BRD7:NM_013263:exon2:c.G51A:p.E17E,BRD7:NM_001173984:exon2:c.G51A:p.E17E,;ANNO=splicing:BRD7;ANNO=splicing:BRD7
16	53679538	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RPGRIP1L:NM_001127897:exon17:c.A2682G:p.S894S,RPGRIP1L:NM_015272:exon17:c.A2682G:p.S894S,;ANNO=splicing:RPGRIP1L
16	54318158	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IRX3:NM_024336:exon3:c.G1451A:p.R484Q,;ANNO=splicing:IRX3
16	55361316	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IRX6:NM_024335:exon3:c.C412T:p.R138W,;ANNO=splicing:IRX6
16	55363223	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IRX6:NM_024335:exon5:c.G1333A:p.A445T,;ANNO=splicing:IRX6
16	55527205	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MMP2:NM_004530:exon9:c.G1472A:p.R491Q,MMP2:NM_001127891:exon9:c.G1322A:p.R441Q,;ANNO=splicing:MMP2
16	55729190	.	G	A	100	PASS	AC=51;STUDIES=7;MAC=51;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC6A2:NM_001172504:exon7:c.G1023A:p.R341R,SLC6A2:NM_001043:exon7:c.G1023A:p.R341R,SLC6A2:NM_001172502:exon5:c.G708A:p.R236R,SLC6A2:NM_001172501:exon8:c.G1023A:p.R341R,;ANNO=splicing:SLC6A2
16	55853446	.	C	A	100	PASS	AC=349;STUDIES=14;MAC=349;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:CES1(NM_001266:c.903+1G>T,NM_001025195:c.906+1G>T,NM_001025194:c.903+1G>T)
16	55860206	.	A	G	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:CES1:NM_001266:exon3:c.T259C:p.C87R,CES1:NM_001025195:exon3:c.T262C:p.C88R,CES1:NM_001025194:exon3:c.T259C:p.C87R,;ANNO=splicing:CES1
16	55862883	.	C	A	100	PASS	AC=180;STUDIES=2;MAC=180;MAF=0.239;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=22;ANNO=nonsynonymous:CES1:NM_001266:exon2:c.G53T:p.G18V,CES1:NM_001025195:exon2:c.G56T:p.G19V,CES1:NM_001025194:exon2:c.G53T:p.G18V,;ANNO=splicing:CES1
16	55866915	.	C	T	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CES1(NM_001266:c.52+1G>A,NM_001025195:c.52+1G>A,NM_001025194:c.52+1G>A)
16	55880679	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:CES5A(NM_001190158:c.1583+1G>A,NM_001143685:c.1496+1G>A,NM_145024:c.1346+1G>A)
16	55880681	.	C	T	100	PASS	AC=232;STUDIES=8;MAC=232;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CES5A:NM_001143685:exon12:c.G1495A:p.G499R,CES5A:NM_001190158:exon13:c.G1582A:p.G528R,CES5A:NM_145024:exon11:c.G1345A:p.G449R,;ANNO=splicing:CES5A
16	55895324	.	C	G	100	PASS	AC=29;STUDIES=10;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CES5A:NM_001143685:exon7:c.G915C:p.Q305H,CES5A:NM_001190158:exon8:c.G1002C:p.Q334H,CES5A:NM_145024:exon7:c.G915C:p.Q305H,;ANNO=splicing:CES5A
16	55903522	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:CES5A(NM_001190158:c.638+1G>A,NM_001143685:c.551+1G>A,NM_145024:c.551+1G>A)
16	55903523	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:CES5A:NM_001143685:exon4:c.C551T:p.T184I,CES5A:NM_001190158:exon5:c.C638T:p.T213I,CES5A:NM_145024:exon4:c.C551T:p.T184I,;ANNO=splicing:CES5A
16	55905536	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CES5A(NM_001190158:c.504+1G>A,NM_001143685:c.417+1G>A,NM_145024:c.417+1G>A)
16	55905537	.	G	A	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CES5A:NM_001143685:exon3:c.C417T:p.P139P,CES5A:NM_001190158:exon4:c.C504T:p.P168P,CES5A:NM_145024:exon3:c.C417T:p.P139P,;ANNO=splicing:CES5A
16	55905676	.	C	T	100	PASS	AC=1968;STUDIES=16;MAC=1968;MAF=0.099;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CES5A(NM_001190158:c.365-1G>A,NM_001143685:c.278-1G>A,NM_145024:c.278-1G>A)
16	56401439	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AMFR:NM_001144:exon12:c.C1516T:p.R506W,;ANNO=splicing:AMFR
16	56701977	.	T	A	100	PASS	AC=97;STUDIES=3;MAC=97;MAF=0.047;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:MT1G
16	56717075	.	A	T	100	PASS	AC=10;STUDIES=8;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MT1X(NM_005952:c.28-2A>T)
16	56902283	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC12A3:NM_000339:exon3:c.C504T:p.I168I,SLC12A3:NM_001126108:exon3:c.C504T:p.I168I,SLC12A3:NM_001126107:exon3:c.C501T:p.I167I,;ANNO=splicing:SLC12A3
16	56902284	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC12A3:NM_000339:exon3:c.G505A:p.V169I,SLC12A3:NM_001126108:exon3:c.G505A:p.V169I,SLC12A3:NM_001126107:exon3:c.G502A:p.V168I,;ANNO=splicing:SLC12A3
16	56903640	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC12A3(NM_001126107:c.502-1G>A,NM_000339:c.505-1G>A,NM_001126108:c.505-1G>A)
16	56906568	.	C	T	100	PASS	AC=42;STUDIES=13;MAC=42;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC12A3:NM_000339:exon8:c.C965T:p.A322V,SLC12A3:NM_001126108:exon8:c.C965T:p.A322V,SLC12A3:NM_001126107:exon8:c.C962T:p.A321V,;ANNO=splicing:SLC12A3
16	56906569	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC12A3:NM_000339:exon8:c.G966A:p.A322A,SLC12A3:NM_001126108:exon8:c.G966A:p.A322A,SLC12A3:NM_001126107:exon8:c.G963A:p.A321A,;ANNO=splicing:SLC12A3
16	56919276	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC12A3:NM_000339:exon15:c.G1925A:p.R642H,SLC12A3:NM_001126108:exon15:c.G1925A:p.R642H,SLC12A3:NM_001126107:exon15:c.G1922A:p.R641H,;ANNO=splicing:SLC12A3
16	56936421	.	G	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC12A3(NM_001126107:c.2880+1G>T,NM_000339:c.2883+1G>T,NM_001126108:c.2856+1G>T)
16	56969148	.	G	A	100	PASS	AC=3264;STUDIES=21;MAC=3264;MAF=0.139;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HERPUD1:NM_014685:exon2:c.G149A:p.R50H,HERPUD1:NM_001010989:exon2:c.G149A:p.R50H,HERPUD1:NM_001010990:exon2:c.G149A:p.R50H,;ANNO=splicing:HERPUD1
16	57007244	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CETP:NM_000078:exon9:c.G752T:p.G251V,;ANNO=splicing:CETP
16	57059280	.	A	T	100	PASS	AC=239;STUDIES=11;MAC=239;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NLRC5:NM_032206:exon6:c.A425T:p.E142V,;ANNO=splicing:NLRC5
16	57081458	.	C	T	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NLRC5:NM_032206:exon23:c.C3340T:p.L1114F,;ANNO=splicing:NLRC5
16	57091977	.	T	C	100	PASS	AC=2134;STUDIES=22;MAC=2134;MAF=0.088;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NLRC5:NM_032206:exon28:c.T3747C:p.D1249D,;ANNO=splicing:NLRC5
16	57282555	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:ARL2BP:NM_012106:exon3:c.C207T:p.Y69Y,;ANNO=splicing:ARL2BP
16	57282556	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:ARL2BP(NM_012106:c.207+1G>A)
16	57290941	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:PLLP:NM_015993:exon4:c.T433C:p.F145L,;ANNO=splicing:PLLP
16	57470644	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CIAPIN1:NM_020313:exon4:c.A311C:p.D104A,;ANNO=splicing:CIAPIN1
16	57490557	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COQ9:NM_020312:exon4:c.G520C:p.E174Q,;ANNO=splicing:COQ9
16	57503205	.	G	A	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:POLR2C:NM_032940:exon5:c.G387A:p.P129P,;ANNO=splicing:POLR2C
16	57596371	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPR114:NM_153837:exon3:c.G140A:p.R47H,;ANNO=splicing:GPR114
16	57597760	.	G	A	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPR114:NM_153837:exon5:c.G298A:p.A100T,;ANNO=splicing:GPR114
16	57598947	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPR114:NM_153837:exon6:c.A431G:p.D144G,;ANNO=splicing:GPR114
16	57687898	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GPR56:NM_001145774:exon6:c.G621A:p.Q207Q,GPR56:NM_001145770:exon6:c.G621A:p.Q207Q,GPR56:NM_201525:exon5:c.G621A:p.Q207Q,GPR56:NM_001145773:exon5:c.G636A:p.Q212Q,GPR56:NM_005682:exon6:c.G621A:p.Q207Q,GPR56:NM_001145772:exon6:c.G621A:p.Q207Q,GPR56:NM_001145771:exon6:c.G621A:p.Q207Q,GPR56:NM_201524:exon6:c.G621A:p.Q207Q,;ANNO=splicing:GPR56
16	57707232	.	G	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GPR97(NM_170776:c.58-1G>C)
16	57734182	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CCDC135:NM_032269:exon4:c.G504A:p.P168P,;ANNO=splicing:CCDC135
16	57764982	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC135:NM_032269:exon17:c.G2531A:p.R844Q,;ANNO=splicing:CCDC135
16	57787906	.	C	T	100	PASS	AC=239;STUDIES=12;MAC=239;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KATNB1:NM_005886:exon13:c.C1227T:p.D409D,;ANNO=splicing:KATNB1
16	57787907	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:KATNB1:NM_005886:exon13:c.G1228A:p.D410N,;ANNO=splicing:KATNB1
16	57788843	.	C	T	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KATNB1:NM_005886:exon14:c.C1230T:p.D410D,;ANNO=splicing:KATNB1
16	57789150	.	C	T	100	PASS	AC=26;STUDIES=5;MAC=26;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KATNB1:NM_005886:exon15:c.C1416T:p.P472P,;ANNO=splicing:KATNB1
16	57789754	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KATNB1:NM_005886:exon17:c.C1568T:p.T523M,;ANNO=splicing:KATNB1
16	57803636	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIFC3:NM_001130100:exon9:c.C1089T:p.G363G,KIFC3:NM_001130099:exon8:c.C672T:p.G224G,KIFC3:NM_005550:exon9:c.C1089T:p.G363G,;ANNO=splicing:KIFC3
16	57921977	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CNGB1:NM_001297:exon32:c.C3244T:p.R1082C,;ANNO=splicing:CNGB1
16	57945778	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CNGB1:NM_001297:exon25:c.G2371T:p.V791F,;ANNO=splicing:CNGB1
16	57953157	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CNGB1:NM_001297:exon20:c.C1803A:p.S601S,;ANNO=splicing:CNGB1
16	57954448	.	A	G	100	PASS	AC=508;STUDIES=17;MAC=508;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=3;ANNO=synonymous:CNGB1:NM_001297:exon19:c.T1644C:p.D548D,;ANNO=splicing:CNGB1
16	57996515	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CNGB1(NM_001297:c.412-1G>A,NM_001135639:c.412-1G>A)
16	58074601	.	C	T	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MMP15:NM_002428:exon5:c.C909T:p.Y303Y,;ANNO=splicing:MMP15
16	58292273	.	C	T	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC113:NM_001142302:exon3:c.C230T:p.A77V,CCDC113:NM_014157:exon4:c.C392T:p.A131V,;ANNO=splicing:CCDC113
16	58313594	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC113(NM_014157:c.1047-1G>T,NM_001142302:c.885-1G>T)
16	58560041	.	A	C	100	PASS	AC=59;STUDIES=3;MAC=59;MAF=0.039;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:CNOT1:NM_016284:exon45:c.T6455G:p.V2152G,;ANNO=splicing:CNOT1
16	58621106	.	G	A	100	PASS	AC=33;STUDIES=10;MAC=33;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CNOT1:NM_206999:exon6:c.C432T:p.F144F,CNOT1:NM_016284:exon6:c.C432T:p.F144F,;ANNO=splicing:CNOT1
16	58713762	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC38A7:NM_018231:exon3:c.T269C:p.M90T,;ANNO=splicing:SLC38A7
16	61858917	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CDH8:NM_001796:exon5:c.G834A:p.Q278Q,;ANNO=splicing:CDH8
16	66432463	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CDH5:NM_001795:exon10:c.C1590T:p.H530H,;ANNO=splicing:CDH5
16	66547713	.	T	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TK2:NM_001172643:exon9:c.A527T:p.E176V,TK2:NM_001172645:exon8:c.A566T:p.E189V,TK2:NM_004614:exon9:c.A620T:p.E207V,TK2:NM_001172644:exon8:c.A545T:p.E182V,;ANNO=splicing:TK2
16	66600498	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CMTM1:NM_052999:exon1:c.G82T:p.A28S,CMTM1:NM_181271:exon1:c.G82T:p.A28S,CMTM1:NM_181268:exon1:c.G82T:p.A28S,;ANNO=splicing:CMTM1(NM_181272:c.81+1G>T,NM_181269:c.81+1G>T,NM_181283:c.81+1G>T,NM_181270:c.81+1G>T,NM_181296:c.81+1G>T)
16	66611105	.	G	A	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CKLF-CMTM1:NM_001204099:exon3:c.G336A:p.G112G,CMTM1:NM_181270:exon3:c.G339A:p.G113G,CMTM1:NM_052999:exon3:c.G690A:p.G230G,CKLF-CMTM1:NM_001204098:exon3:c.G273A:p.G91G,CKLF-CMTM1:NM_001202509:exon2:c.G177A:p.G59G,CMTM1:NM_181283:exon2:c.G180A:p.G60G,CMTM1:NM_181271:exon2:c.G198A:p.G66G,CMTM1:NM_181269:exon3:c.G339A:p.G113G,CMTM1:NM_181268:exon3:c.G690A:p.G230G,CMTM1:NM_181272:exon2:c.G180A:p.G60G,;ANNO=splicing:CKLF-CMTM1,CMTM1
16	66655964	.	C	T	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CMTM4:NM_181521:exon4:c.G624A:p.T208T,;ANNO=splicing:CMTM4(NM_178818:c.623+1G>A)
16	66670308	.	T	G	100	PASS	AC=43;STUDIES=5;MAC=43;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CMTM4:NM_181521:exon2:c.A363C:p.T121T,CMTM4:NM_178818:exon2:c.A363C:p.T121T,;ANNO=splicing:CMTM4
16	66974597	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CES2:NM_198061:exon5:c.C1007T:p.T336M,CES2:NM_003869:exon5:c.C1007T:p.T336M,;ANNO=splicing:CES2
16	67006570	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CES3(NM_024922:c.1441-1G>A,NM_001185176:c.358-1G>A)
16	67006571	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CES3:NM_001185176:exon5:c.C359A:p.A120D,CES3:NM_024922:exon12:c.C1442A:p.A481D,;ANNO=splicing:CES3
16	67006757	.	G	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CES3:NM_001185177:exon13:c.G1512T:p.G504G,CES3:NM_001185176:exon6:c.G438T:p.G146G,CES3:NM_024922:exon13:c.G1521T:p.G507G,;ANNO=splicing:CES3
16	67173888	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C16orf70:NM_025187:exon9:c.T663C:p.G221G,;ANNO=splicing:C16orf70
16	67195639	.	C	T	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:FBXL8
16	67195842	.	T	C	100	PASS	AC=96;STUDIES=11;MAC=96;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FBXL8(NM_018378:c.152+2T>C)
16	67203533	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HSF4(NM_001040667:c.1324-1G>T,NM_001538:c.1234-1G>T)
16	67208848	.	G	A	100	PASS	AC=12;STUDIES=9;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NOL3(NM_001185058:c.619+1G>A,NM_003946:c.619+1G>A,NM_001185057:c.609+1G>A)
16	67228590	.	G	T	100	PASS	AC=12;STUDIES=8;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:E2F4:NM_001950:exon6:c.G515T:p.G172V,;ANNO=splicing:E2F4
16	67233658	.	A	G	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ELMO3:NM_024712:exon3:c.A350G:p.N117S,;ANNO=splicing:ELMO3
16	67234263	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ELMO3:NM_024712:exon5:c.G571A:p.D191N,;ANNO=splicing:ELMO3
16	67235879	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ELMO3(NM_024712:c.1209-1G>A)
16	67262319	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM208(NM_014187:c.162+2T>G)
16	67265541	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FHOD1:NM_013241:exon15:c.G2384A:p.R795Q,;ANNO=splicing:FHOD1
16	67315912	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLEKHG4:NM_001129727:exon9:c.C1006T:p.R336W,PLEKHG4:NM_001129731:exon6:c.C763T:p.R255W,PLEKHG4:NM_001129728:exon8:c.C1006T:p.R336W,PLEKHG4:NM_015432:exon7:c.C1006T:p.R336W,PLEKHG4:NM_001129729:exon8:c.C1006T:p.R336W,;ANNO=splicing:PLEKHG4
16	67322391	.	G	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLEKHG4(NM_015432:c.3454-1G>C,NM_001129727:c.3454-1G>C,NM_001129728:c.3454-1G>C,NM_001129729:c.3454-1G>C,NM_001129731:c.3211-1G>C)
16	67409315	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRRC36:NM_018296:exon10:c.G1660A:p.G554S,LRRC36:NM_001161575:exon7:c.G1297A:p.G433S,;ANNO=splicing:LRRC36
16	67517173	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AGRP:NM_001138:exon2:c.A129G:p.P43P,;ANNO=splicing:AGRP
16	67579280	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FAM65A:NM_001193522:exon18:c.G3045A:p.V1015V,FAM65A:NM_001193523:exon18:c.G3093A:p.V1031V,FAM65A:NM_024519:exon18:c.G3033A:p.V1011V,FAM65A:NM_001193524:exon18:c.G3075A:p.V1025V,;ANNO=splicing:FAM65A
16	67680875	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RLTPR:NM_001013838:exon8:c.C610T:p.R204W,;ANNO=splicing:RLTPR
16	67693939	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACD:NM_001082486:exon2:c.G367A:p.D123N,ACD:NM_001082487:exon2:c.G358A:p.D120N,ACD:NM_022914:exon2:c.G358A:p.D120N,;ANNO=splicing:ACD
16	67709955	.	A	G	100	PASS	AC=77;STUDIES=13;MAC=77;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GFOD2:NM_030819:exon3:c.T261C:p.G87G,;ANNO=splicing:GFOD2
16	67771917	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RANBP10:NM_020850:exon5:c.C590T:p.P197L,;ANNO=splicing:RANBP10
16	67859819	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TSNAXIP1(NM_018430:c.822-1G>C)
16	67860866	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TSNAXIP1:NM_018430:exon13:c.C1393A:p.R465R,;ANNO=splicing:TSNAXIP1
16	67860867	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TSNAXIP1:NM_018430:exon13:c.G1394A:p.R465Q,;ANNO=splicing:TSNAXIP1
16	67965002	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CTRL:NM_001907:exon2:c.A155G:p.Q52R,;ANNO=splicing:CTRL
16	67970596	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PSMB10(NM_002801:c.56+1G>A)
16	68105011	.	C	T	100	PASS	AC=36;STUDIES=3;MAC=36;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DUS2L:NM_017803:exon12:c.C810T:p.Y270Y,;ANNO=splicing:DUS2L
16	68107938	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DUS2L:NM_017803:exon13:c.C812T:p.A271V,;ANNO=splicing:DUS2L
16	68109406	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DUS2L:NM_017803:exon14:c.C1081T:p.R361W,;ANNO=splicing:DUS2L
16	68110621	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DUS2L:NM_017803:exon15:c.C1169T:p.T390M,;ANNO=splicing:DUS2L
16	68110622	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DUS2L:NM_017803:exon15:c.G1170A:p.T390T,;ANNO=splicing:DUS2L
16	68255187	.	G	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NFATC3:NM_173163:exon10:c.G3195C:p.E1065D,;ANNO=splicing:NFATC3
16	68289186	.	T	C	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLA2G15:NM_012320:exon4:c.T405C:p.G135G,;ANNO=splicing:PLA2G15
16	68325566	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC7A6(NM_003983:c.1022+2T>C,NM_001076785:c.1022+2T>C)
16	68380047	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRMT7(NM_019023:c.1055-1G>T,NM_001184824:c.905-1G>T)
16	68389627	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRMT7:NM_019023:exon17:c.G1652A:p.R551H,PRMT7:NM_001184824:exon15:c.G1502A:p.R501H,;ANNO=splicing:PRMT7
16	68909057	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMCO7:NM_024562:exon5:c.C995T:p.A332V,;ANNO=splicing:TMCO7
16	69354592	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VPS4A:NM_013245:exon8:c.G771A:p.G257G,;ANNO=splicing:VPS4A
16	69602397	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NFAT5(NM_138713:c.73-1G>T,NM_001113178:c.73-1G>T)
16	69748868	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;TRIALLELIC;ANNO=nonsynonymous:NQO1:NM_000903:exon4:c.G416T:p.R139L,NQO1:NM_001025433:exon4:c.G416T:p.R139L,;ANNO=nonsynonymous:NQO1:NM_000903:exon4:c.G416A:p.R139Q,NQO1:NM_001025433:exon4:c.G416A:p.R139Q,;ANNO=splicing:NQO1;ANNO=splicing:NQO1
16	69776503	.	T	A	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:NOB1:NM_014062:exon9:c.A971T:p.Y324F,;ANNO=splicing:NOB1
16	69783021	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NOB1:NM_014062:exon6:c.A526T:p.I176F,;ANNO=splicing:NOB1
16	69876022	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:WWP2:NM_199423:exon7:c.C574T:p.R192W,WWP2:NM_007014:exon7:c.C574T:p.R192W,;ANNO=splicing:WWP2
16	69951785	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:WWP2:NM_007014:exon11:c.A1178G:p.Q393R,;ANNO=splicing:WWP2
16	69992941	.	A	G	100	PASS	AC=800;STUDIES=4;MAC=800;MAF=0.441;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:CLEC18A:NM_001136214:exon5:c.A553G:p.R185G,CLEC18A:NM_182619:exon5:c.A553G:p.R185G,;ANNO=splicing:CLEC18A
16	70299441	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AARS:NM_001605:exon10:c.G1347A:p.Q449Q,;ANNO=splicing:AARS
16	70301563	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AARS:NM_001605:exon9:c.C1221T:p.P407P,;ANNO=splicing:AARS
16	70506508	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FUK:NM_145059:exon14:c.G1406A:p.R469Q,;ANNO=splicing:FUK
16	70506885	.	G	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FUK(NM_145059:c.1406-1G>C)
16	70729448	.	T	C	100	PASS	AC=195;STUDIES=19;MAC=195;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VAC14:NM_018052:exon17:c.A2034G:p.T678T,;ANNO=splicing:VAC14
16	70843909	.	C	T	100	PASS	AC=12;STUDIES=8;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HYDIN:NM_032821:exon85:c.G14657A:p.G4886D,;ANNO=splicing:HYDIN
16	70894593	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:HYDIN:NM_032821:exon70:c.C11986T:p.R3996W,;ANNO=splicing:HYDIN
16	70935106	.	C	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:HYDIN(NM_032821:c.8846-1G>T)
16	71019225	.	G	A	100	PASS	AC=35;STUDIES=2;MAC=35;MAF=0.043;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:HYDIN:NM_032821:exon28:c.C4192T:p.L1398L,;ANNO=splicing:HYDIN
16	71026112	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:HYDIN:NM_032821:exon24:c.T3646C:p.F1216L,;ANNO=splicing:HYDIN
16	71264561	.	A	G	100	PASS	AC=785;STUDIES=5;MAC=785;MAF=0.212;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HYDIN:NM_001198542:exon1:c.T30C:p.G10G,;ANNO=splicing:HYDIN(NM_001198543:c.28+2T>C)
16	71663270	.	T	C	100	PASS	AC=14;STUDIES=9;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MARVELD3:NM_052858:exon2:c.T468C:p.S156S,MARVELD3:NM_001017967:exon2:c.T468C:p.S156S,;ANNO=splicing:MARVELD3
16	71701235	.	T	C	100	PASS	AC=16;STUDIES=3;MAC=16;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PHLPP2:NM_015020:exon11:c.A1630G:p.I544V,;ANNO=splicing:PHLPP2
16	71718504	.	T	C	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PHLPP2:NM_015020:exon4:c.A610G:p.I204V,;ANNO=splicing:PHLPP2
16	72001906	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PKD1L3:NM_181536:exon14:c.G2185T:p.V729L,;ANNO=splicing:PKD1L3
16	72020369	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PKD1L3(NM_181536:c.585-1G>A)
16	72055024	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DHODH:NM_001361:exon5:c.T519C:p.D173D,;ANNO=splicing:DHODH
16	72153749	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:PMFBP1(NM_031293:c.3007+1G>C,NM_001160213:c.2632+1G>C);ANNO=splicing:PMFBP1(NM_031293:c.3007+1G>A,NM_001160213:c.2632+1G>A)
16	72162694	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PMFBP1(NM_031293:c.1950-1G>A,NM_001160213:c.1515-1G>A)
16	72162966	.	G	T	100	PASS	AC=3395;STUDIES=22;MAC=3395;MAF=0.140;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PMFBP1:NM_001160213:exon14:c.C1514A:p.T505K,PMFBP1:NM_031293:exon13:c.C1949A:p.T650K,;ANNO=splicing:PMFBP1
16	72170593	.	C	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PMFBP1:NM_001160213:exon9:c.G609T:p.K203N,PMFBP1:NM_031293:exon8:c.G1044T:p.K348N,;ANNO=splicing:PMFBP1
16	72174309	.	A	G	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PMFBP1(NM_031293:c.807+2T>C,NM_001160213:c.372+2T>C)
16	72198814	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PMFBP1:NM_031293:exon3:c.C14T:p.A5V,;ANNO=splicing:PMFBP1
16	74443750	.	C	T	100	PASS	AC=56;STUDIES=12;MAC=56;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CLEC18B:NM_001011880:exon11:c.G1238A:p.G413E,;ANNO=splicing:CLEC18B
16	74447478	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CLEC18B:NM_001011880:exon4:c.G553A:p.G185R,;ANNO=splicing:CLEC18B
16	74481327	.	T	C	100	PASS	AC=55;STUDIES=2;MAC=55;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:GLG1
16	74566050	.	G	A	100	PASS	AC=46;STUDIES=3;MAC=46;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:GLG1:NM_012201:exon2:c.C440T:p.P147L,GLG1:NM_001145667:exon2:c.C440T:p.P147L,;ANNO=splicing:GLG1
16	74708858	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:MLKL:NM_152649:exon10:c.G1381T:p.E461X,MLKL:NM_001142497:exon5:c.G757T:p.E253X,;ANNO=splicing:MLKL
16	74725174	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:MLKL(NM_152649:c.722+1G>T);ANNO=splicing:MLKL(NM_152649:c.722+1G>A)
16	74919552	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:WDR59:NM_030581:exon25:c.C2688T:p.I896I,;ANNO=splicing:WDR59
16	74920293	.	C	T	100	PASS	AC=30;STUDIES=6;MAC=30;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:WDR59:NM_030581:exon24:c.G2421A:p.A807A,;ANNO=splicing:WDR59
16	74937998	.	T	C	100	PASS	AC=157;STUDIES=11;MAC=157;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:WDR59:NM_030581:exon18:c.A1713G:p.R571R,;ANNO=splicing:WDR59
16	75286131	.	A	G	100	PASS	AC=24;STUDIES=3;MAC=24;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BCAR1(NM_001170720:c.12+2T>C)
16	75485566	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM170A(NM_145254:c.304+1G>T)
16	75576580	.	A	G	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMEM231:NM_001077416:exon4:c.T671C:p.I224T,TMEM231:NM_001077419:exon5:c.T236C:p.I79T,TMEM231:NM_001077418:exon5:c.T584C:p.I195T,;ANNO=splicing:TMEM231
16	75579250	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;SNP_ON_LEFT;ANNO=synonymous:TMEM231:NM_001077416:exon3:c.C669T:p.N223N,TMEM231:NM_001077419:exon4:c.C234T:p.N78N,TMEM231:NM_001077418:exon4:c.C582T:p.N194N,;ANNO=splicing:TMEM231
16	75657221	.	C	A	100	PASS	AC=60;STUDIES=2;MAC=60;MAF=0.036;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:ADAT1
16	75665486	.	C	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:KARS:NM_001130089:exon10:c.G1164C:p.G388G,KARS:NM_005548:exon9:c.G1080C:p.G360G,;ANNO=splicing:KARS
16	76532465	.	A	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CNTNAP4:NM_138994:exon14:c.A2020T:p.T674S,;ANNO=splicing:CNTNAP4
16	77233409	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYCE1L:NM_001129979:exon1:c.G61A:p.G21R,;ANNO=splicing:SYCE1L
16	77325163	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:ADAMTS18:NM_199355:exon21:c.G3402C:p.Q1134H,;ANNO=synonymous:ADAMTS18:NM_199355:exon21:c.G3402A:p.Q1134Q,;ANNO=splicing:ADAMTS18;ANNO=splicing:ADAMTS18
16	77327156	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADAMTS18(NM_199355:c.3006-1G>C)
16	77859358	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:VAT1L:NM_020927:exon3:c.G579A:p.V193V,;ANNO=splicing:VAT1L
16	77859359	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VAT1L(NM_020927:c.579+1G>A)
16	78062005	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CLEC3A:NM_005752:exon2:c.C117A:p.D39E,;ANNO=splicing:CLEC3A
16	78062086	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CLEC3A:NM_005752:exon2:c.A198G:p.T66T,;ANNO=splicing:CLEC3A
16	80577248	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DYNLRB2:NM_130897:exon2:c.G79T:p.G27C,;ANNO=splicing:DYNLRB2
16	81061776	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CENPN:NM_001100625:exon10:c.C811T:p.L271F,CENPN:NM_001100624:exon10:c.C811T:p.L271F,;ANNO=splicing:CENPN
16	81145769	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PKD1L2:NM_052892:exon40:c.C6982T:p.R2328C,;ANNO=splicing:PKD1L2
16	81164062	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PKD1L2(NM_052892:c.6043+2T>A)
16	81181120	.	C	G	100	PASS	AC=71;STUDIES=4;MAC=71;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PKD1L2(NM_052892:c.4971-1G>C)
16	81208518	.	A	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:PKD1L2:NM_052892:exon16:c.T2585A:p.V862E,PKD1L2:NM_001076780:exon16:c.T2585A:p.V862E,;ANNO=splicing:PKD1L2
16	81209355	.	C	A	100	PASS	AC=113;STUDIES=10;MAC=113;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PKD1L2:NM_052892:exon15:c.G2438T:p.G813V,PKD1L2:NM_001076780:exon15:c.G2438T:p.G813V,;ANNO=splicing:PKD1L2
16	81211587	.	T	C	100	PASS	AC=343;STUDIES=20;MAC=343;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PKD1L2:NM_052892:exon14:c.A2262G:p.A754A,PKD1L2:NM_001076780:exon14:c.A2262G:p.A754A,;ANNO=splicing:PKD1L2
16	81224271	.	C	G	100	PASS	AC=541;STUDIES=20;MAC=541;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PKD1L2:NM_052892:exon9:c.G1670C:p.S557T,PKD1L2:NM_001076780:exon9:c.G1670C:p.S557T,;ANNO=splicing:PKD1L2
16	81242097	.	T	C	100	PASS	AC=34;STUDIES=2;MAC=34;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:PKD1L2:NM_052892:exon4:c.A759G:p.E253E,PKD1L2:NM_001076780:exon4:c.A759G:p.E253E,;ANNO=splicing:PKD1L2
16	81253676	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PKD1L2:NM_052892:exon1:c.G300T:p.E100D,PKD1L2:NM_001076780:exon1:c.G300T:p.E100D,;ANNO=splicing:PKD1L2
16	81279208	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BCMO1:NM_017429:exon2:c.G193A:p.G65S,;ANNO=splicing:BCMO1
16	81323953	.	G	C	100	PASS	AC=181;STUDIES=15;MAC=181;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BCMO1:NM_017429:exon11:c.G1415C:p.G472A,;ANNO=splicing:BCMO1
16	81904539	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLCG2:NM_002661:exon7:c.C647T:p.S216L,;ANNO=splicing:PLCG2
16	81927314	.	G	A	100	PASS	AC=34;STUDIES=12;MAC=34;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLCG2:NM_002661:exon12:c.G987A:p.T329T,;ANNO=splicing:PLCG2
16	81960783	.	G	A	100	PASS	AC=132;STUDIES=7;MAC=132;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLCG2:NM_002661:exon23:c.G2514A:p.Q838Q,;ANNO=splicing:PLCG2
16	82101987	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HSD17B2:NM_002153:exon2:c.G478C:p.G160R,;ANNO=splicing:HSD17B2
16	83378467	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CDH13:NM_001220488:exon7:c.C778G:p.L260V,CDH13:NM_001220489:exon5:c.C520G:p.L174V,CDH13:NM_001257:exon6:c.C637G:p.L213V,;ANNO=splicing:CDH13
16	83520083	.	C	A	100	PASS	AC=17;STUDIES=3;MAC=17;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=synonymous:CDH13:NM_001220488:exon8:c.C924A:p.G308G,CDH13:NM_001220490:exon6:c.C21A:p.G7G,CDH13:NM_001220489:exon6:c.C666A:p.G222G,CDH13:NM_001257:exon7:c.C783A:p.G261G,;ANNO=splicing:CDH13
16	83813806	.	A	T	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CDH13:NM_001220488:exon13:c.A2056T:p.N686Y,CDH13:NM_001220490:exon11:c.A1153T:p.N385Y,CDH13:NM_001220489:exon11:c.A1798T:p.N600Y,CDH13:NM_001257:exon12:c.A1915T:p.N639Y,;ANNO=splicing:CDH13
16	84031922	.	A	T	100	PASS	AC=16;STUDIES=3;MAC=16;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NECAB2:NM_019065:exon10:c.A962T:p.H321L,;ANNO=splicing:NECAB2
16	84035430	.	G	A	100	PASS	AC=190;STUDIES=13;MAC=190;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NECAB2:NM_019065:exon12:c.G1041A:p.R347R,;ANNO=splicing:NECAB2
16	84056381	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC38A8:NM_001080442:exon6:c.G804C:p.T268T,;ANNO=splicing:SLC38A8
16	84070306	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC38A8(NM_001080442:c.388+1G>A)
16	84075574	.	C	T	100	PASS	AC=18;STUDIES=4;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC38A8:NM_001080442:exon1:c.G189A:p.L63L,;ANNO=splicing:SLC38A8
16	84094417	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MBTPS1:NM_003791:exon20:c.C2574G:p.D858E,;ANNO=splicing:MBTPS1
16	84096911	.	C	T	100	PASS	AC=18;STUDIES=6;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MBTPS1:NM_003791:exon19:c.G2571A:p.K857K,;ANNO=splicing:MBTPS1
16	84108345	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MBTPS1:NM_003791:exon12:c.T1450A:p.L484M,;ANNO=splicing:MBTPS1
16	84126901	.	C	T	100	PASS	AC=368;STUDIES=20;MAC=368;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MBTPS1:NM_003791:exon6:c.G738A:p.G246G,;ANNO=splicing:MBTPS1
16	84193280	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAAF1:NM_178452:exon6:c.C742A:p.R248S,;ANNO=splicing:DNAAF1
16	84193281	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAAF1:NM_178452:exon6:c.G743A:p.R248H,;ANNO=splicing:DNAAF1
16	84205981	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DNAAF1:NM_178452:exon9:c.T1644G:p.D548E,;ANNO=splicing:DNAAF1
16	84208329	.	G	A	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNAAF1(NM_178452:c.1698+1G>A)
16	84216850	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TAF1C:NM_139353:exon5:c.G207A:p.G69G,TAF1C:NM_005679:exon5:c.G408A:p.G136G,;ANNO=splicing:TAF1C
16	84228873	.	C	T	100	PASS	AC=3390;STUDIES=21;MAC=3390;MAF=0.152;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ADAD2:NM_139174:exon6:c.C951T:p.G317G,;ANNO=splicing:ADAD2
16	84353177	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:WFDC1:NM_021197:exon4:c.G562A:p.D188N,;ANNO=splicing:WFDC1
16	84402133	.	G	T	100	PASS	AC=611;STUDIES=3;MAC=611;MAF=0.328;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ATP2C2
16	84402319	.	T	C	100	PASS	AC=12;STUDIES=7;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATP2C2:NM_014861:exon1:c.T98C:p.L33S,;ANNO=splicing:ATP2C2
16	84456792	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ATP2C2(NM_014861:c.843-2A>T)
16	84495318	.	A	C	100	PASS	AC=169;STUDIES=16;MAC=169;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ATP2C2(NM_014861:c.2481-2A>C)
16	84529519	.	T	C	100	PASS	AC=53;STUDIES=14;MAC=53;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1609:NM_020947:exon3:c.A154G:p.N52D,;ANNO=splicing:KIAA1609
16	84801966	.	T	C	100	PASS	AC=20;STUDIES=2;MAC=20;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:USP10(NM_005153:c.1998+2T>C)
16	84900645	.	G	A	100	PASS	AC=134;STUDIES=18;MAC=134;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CRISPLD2:NM_031476:exon7:c.G852A:p.M284I,;ANNO=splicing:CRISPLD2
16	84906114	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CRISPLD2:NM_031476:exon9:c.C981T:p.S327S,;ANNO=splicing:CRISPLD2
16	85141704	.	A	G	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM92B:NM_198491:exon3:c.T257C:p.V86A,;ANNO=splicing:FAM92B
16	85688400	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KIAA0182:NM_001134473:exon4:c.C288T:p.N96N,KIAA0182:NM_014615:exon5:c.C600T:p.N200N,;ANNO=splicing:KIAA0182
16	85689333	.	A	T	100	PASS	AC=50;STUDIES=10;MAC=50;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA0182:NM_001134473:exon5:c.A487T:p.M163L,KIAA0182:NM_014615:exon6:c.A799T:p.M267L,;ANNO=splicing:KIAA0182
16	85702029	.	A	C	100	PASS	AC=135;STUDIES=9;MAC=135;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA0182:NM_001134473:exon13:c.A3102C:p.E1034D,KIAA0182:NM_014615:exon14:c.A3414C:p.E1138D,;ANNO=splicing:KIAA0182
16	85838709	.	G	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COX4I1:NM_001861:exon3:c.G240C:p.E80D,;ANNO=splicing:COX4I1
16	85952023	.	C	T	100	PASS	AC=55;STUDIES=17;MAC=55;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IRF8:NM_002163:exon7:c.C602T:p.A201V,;ANNO=splicing:IRF8
16	86588249	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MTHFSD(NM_001159378:c.123+2T>C,NM_001159377:c.123+2T>C,NM_001159380:c.63+2T>C,NM_001159379:c.120+2T>C,NM_022764:c.120+2T>C)
16	87435782	.	T	C	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:MAP1LC3B:NM_022818:exon3:c.T98C:p.V33A,;ANNO=splicing:MAP1LC3B
16	87446661	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZCCHC14:NM_015144:exon11:c.C1333T:p.R445C,;ANNO=splicing:ZCCHC14
16	87493737	.	T	C	100	PASS	AC=3188;STUDIES=22;MAC=3188;MAF=0.132;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZCCHC14:NM_015144:exon2:c.A160G:p.I54V,;ANNO=splicing:ZCCHC14
16	87717872	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:JPH3:NM_020655:exon3:c.G1285A:p.G429R,;ANNO=splicing:JPH3
16	87745050	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KLHDC4(NM_017566:c.835-1G>A,NM_001184854:c.664-1G>A,NM_001184856:c.742-1G>A)
16	87795647	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KLHDC4(NM_017566:c.99-1G>A,NM_001184856:c.99-1G>A)
16	87902491	.	G	A	100	PASS	AC=22;STUDIES=3;MAC=22;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:SLC7A5:NM_003486:exon1:c.C538T:p.L180L,;ANNO=splicing:SLC7A5
16	87936031	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=synonymous:CA5A:NM_001739:exon4:c.G555A:p.K185K,;ANNO=splicing:CA5A
16	88039696	.	C	T	100	PASS	AC=56;STUDIES=6;MAC=56;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BANP:NM_001173543:exon6:c.C456T:p.N152N,BANP:NM_001173539:exon6:c.C480T:p.N160N,BANP:NM_001173542:exon6:c.C480T:p.N160N,BANP:NM_079837:exon5:c.C363T:p.C121C,BANP:NM_001173541:exon5:c.C363T:p.C121C,BANP:NM_017869:exon5:c.C363T:p.C121C,BANP:NM_001173540:exon5:c.C381T:p.C127C,;ANNO=splicing:BANP
16	88580796	.	C	T	100	PASS	AC=103;STUDIES=10;MAC=103;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZFPM1:NM_153813:exon4:c.C270T:p.D90D,;ANNO=splicing:ZFPM1
16	88599023	.	A	G	100	PASS	AC=1913;STUDIES=20;MAC=1913;MAF=0.099;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:ZFPM1:NM_153813:exon8:c.A948G:p.G316G,;ANNO=splicing:ZFPM1
16	88599344	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZFPM1(NM_153813:c.1189+1G>A)
16	88695167	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZC3H18:NM_144604:exon16:c.C2471T:p.A824V,;ANNO=splicing:ZC3H18
16	88705054	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IL17C:NM_013278:exon1:c.C5T:p.T2M,;ANNO=splicing:IL17C
16	88724324	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MVD:NM_002461:exon3:c.G255C:p.E85D,;ANNO=splicing:MVD
16	88729494	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:MVD
16	88779854	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CTU2:NM_001012759:exon8:c.C872T:p.T291M,CTU2:NM_001012762:exon8:c.C872T:p.T291M,;ANNO=splicing:CTU2
16	88781591	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CTU2:NM_001012759:exon15:c.G1480A:p.A494T,CTU2:NM_001012762:exon14:c.G1421A:p.G474D,;ANNO=splicing:CTU2
16	88783618	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM38A:NM_001142864:exon45:c.A6473G:p.K2158R,;ANNO=splicing:FAM38A
16	88804135	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM38A(NM_001142864:c.1107+1G>C)
16	88851310	.	A	C	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.227;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:FAM38A:NM_001142864:exon1:c.T63G:p.A21A,;ANNO=splicing:FAM38A
16	88898407	.	T	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GALNS:NM_000512:exon9:c.A1001G:p.Q334R,;ANNO=splicing:GALNS
16	88908306	.	G	A	100	PASS	AC=510;STUDIES=20;MAC=510;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GALNS:NM_000512:exon3:c.C318T:p.N106N,;ANNO=splicing:GALNS
16	88931970	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PABPN1L(NM_001080487:c.459+1G>A)
16	89187320	.	A	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACSF3:NM_001127214:exon6:c.A1238T:p.K413M,ACSF3:NM_174917:exon7:c.A1238T:p.K413M,;ANNO=splicing:ACSF3
16	89220496	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACSF3(NM_001127214:c.1613-2A>G,NM_174917:c.1613-2A>G)
16	89257879	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CDH15:NM_004933:exon9:c.C1374T:p.D458D,;ANNO=splicing:CDH15
16	89287559	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF778:NM_182531:exon2:c.C24T:p.H8H,ZNF778:NM_001201407:exon2:c.C24T:p.H8H,;ANNO=splicing:ZNF778
16	89292038	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:ZNF778:NM_182531:exon5:c.C320T:p.T107M,ZNF778:NM_001201407:exon6:c.C404T:p.T135M,;ANNO=splicing:ZNF778
16	89292039	.	G	A	100	PASS	AC=267;STUDIES=18;MAC=267;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF778:NM_182531:exon5:c.G321A:p.T107T,ZNF778:NM_001201407:exon6:c.G405A:p.T135T,;ANNO=splicing:ZNF778
16	89592737	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPG7:NM_003119:exon5:c.C619T:p.R207W,SPG7:NM_199367:exon5:c.C619T:p.R207W,;ANNO=splicing:SPG7
16	89603171	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPG7(NM_199367:c.1324-2A>G)
16	89613169	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPG7(NM_003119:c.1552+1G>T)
16	89628799	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:RPL13:NM_000977:exon5:c.C477A:p.N159K,RPL13:NM_033251:exon4:c.C477A:p.N159K,;ANNO=synonymous:RPL13:NM_000977:exon5:c.C477T:p.N159N,RPL13:NM_033251:exon4:c.C477T:p.N159N,;ANNO=splicing:RPL13;ANNO=splicing:RPL13
16	89662012	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CPNE7(NM_014427:c.1764+1G>A,NM_153636:c.1539+1G>A)
16	89702317	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DPEP1:NM_004413:exon3:c.C106T:p.H36Y,DPEP1:NM_001128141:exon3:c.C106T:p.H36Y,;ANNO=splicing:DPEP1
16	89703959	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DPEP1:NM_004413:exon8:c.C852T:p.A284A,DPEP1:NM_001128141:exon8:c.C852T:p.A284A,;ANNO=splicing:DPEP1
16	89703960	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DPEP1:NM_004413:exon8:c.G853A:p.D285N,DPEP1:NM_001128141:exon8:c.G853A:p.D285N,;ANNO=splicing:DPEP1
16	89704461	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DPEP1:NM_004413:exon11:c.C1067T:p.A356V,DPEP1:NM_001128141:exon11:c.C1067T:p.A356V,;ANNO=splicing:DPEP1
16	89713612	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:CHMP1A:NM_002768:exon5:c.C380T:p.S127L,;ANNO=nonsynonymous:CHMP1A:NM_002768:exon5:c.C380G:p.S127W,CHMP1A:NM_001083314:exon4:c.C360G:p.I120M,;ANNO=splicing:CHMP1A;ANNO=splicing:CHMP1A
16	89753169	.	T	G	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CDK10:NM_052988:exon1:c.T51G:p.R17R,;ANNO=splicing:CDK10
16	89759807	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CDK10:NM_001098533:exon8:c.G327A:p.A109A,CDK10:NM_052987:exon8:c.G327A:p.A109A,CDK10:NM_001160367:exon8:c.G327A:p.A109A,CDK10:NM_052988:exon8:c.G540A:p.A180A,;ANNO=splicing:CDK10
16	89761459	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CDK10:NM_001098533:exon11:c.A700G:p.M234V,CDK10:NM_052987:exon11:c.A700G:p.M234V,CDK10:NM_001160367:exon11:c.A700G:p.M234V,CDK10:NM_052988:exon11:c.A913G:p.M305V,;ANNO=splicing:CDK10
16	89762136	.	G	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDK10(NM_052987:c.772-1G>A)
16	89777417	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C16orf7:NM_004913:exon10:c.C835A:p.L279I,;ANNO=splicing:C16orf7
16	89778290	.	A	G	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C16orf7:NM_004913:exon8:c.T747C:p.H249H,;ANNO=splicing:C16orf7
16	89838086	.	C	A	100	PASS	AC=589;STUDIES=20;MAC=589;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FANCA:NM_000135:exon23:c.G2151T:p.M717I,;ANNO=splicing:FANCA
16	89911774	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPIRE2(NM_032451:c.288+1G>A)
16	89958601	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TCF25:NM_014972:exon6:c.G615A:p.R205R,;ANNO=splicing:TCF25
16	89967044	.	C	G	100	PASS	AC=71;STUDIES=16;MAC=71;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TCF25:NM_014972:exon12:c.C1223G:p.A408G,;ANNO=splicing:TCF25
16	89972691	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TCF25:NM_014972:exon15:c.C1718T:p.P573L,;ANNO=splicing:TCF25
16	90099126	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:GAS8:NM_001481:exon4:c.G289A:p.V97M,;ANNO=nonsynonymous:GAS8:NM_001481:exon4:c.G289T:p.V97L,;ANNO=splicing:GAS8;ANNO=splicing:GAS8
16	90102789	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:GAS8:NM_001481:exon6:c.A551C:p.E184A,;ANNO=nonsynonymous:GAS8:NM_001481:exon6:c.A551T:p.E184V,;ANNO=splicing:GAS8;ANNO=splicing:GAS8
16	90126749	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PRDM7:NM_001098173:exon9:c.G1233A:p.E411E,;ANNO=splicing:PRDM7
16	90127860	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:PRDM7:NM_052996:exon2:c.G332A:p.R111K,PRDM7:NM_001098173:exon8:c.G950A:p.R317K,;ANNO=splicing:PRDM7
16	90141323	.	C	T	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:PRDM7(NM_001098173:c.301+1G>A)
17	22406	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DOC2B:NM_003585:exon2:c.T375C:p.T125T,;ANNO=splicing:DOC2B
17	69528	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RPH3AL(NM_001190413:c.526-1G>A,NM_001190412:c.526-1G>A,NM_001190411:c.613-1G>A,NM_006987:c.613-1G>A)
17	171064	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:RPH3AL:NM_001190413:exon3:c.G220C:p.G74R,RPH3AL:NM_006987:exon4:c.G220C:p.G74R,RPH3AL:NM_001190411:exon3:c.G220C:p.G74R,RPH3AL:NM_001190412:exon4:c.G220C:p.G74R,;ANNO=nonsynonymous:RPH3AL:NM_001190413:exon3:c.G220A:p.G74R,RPH3AL:NM_006987:exon4:c.G220A:p.G74R,RPH3AL:NM_001190411:exon3:c.G220A:p.G74R,RPH3AL:NM_001190412:exon4:c.G220A:p.G74R,;ANNO=splicing:RPH3AL;ANNO=splicing:RPH3AL
17	183725	.	T	C	100	PASS	AC=142;STUDIES=2;MAC=142;MAF=0.072;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:RPH3AL
17	436151	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:VPS53:NM_001128159:exon19:c.C2016T:p.N672N,VPS53:NM_018289:exon18:c.C1929T:p.N643N,;ANNO=splicing:VPS53
17	505035	.	T	C	100	PASS	AC=213;STUDIES=14;MAC=213;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VPS53:NM_001128159:exon12:c.A1218G:p.Q406Q,VPS53:NM_018289:exon11:c.A1131G:p.Q377Q,;ANNO=splicing:VPS53
17	674566	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:GLOD4:NM_016080:exon5:c.A542G:p.Q181R,;ANNO=nonsynonymous:GLOD4:NM_016080:exon5:c.A542C:p.Q181P,;ANNO=splicing:GLOD4;ANNO=splicing:GLOD4
17	1377983	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO1C:NM_001080950:exon17:c.C1661T:p.T554I,MYO1C:NM_001080779:exon17:c.C1718T:p.T573I,MYO1C:NM_033375:exon17:c.C1613T:p.T538I,;ANNO=splicing:MYO1C
17	1451591	.	G	A	100	PASS	AC=23;STUDIES=11;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PITPNA:NM_006224:exon4:c.C288T:p.T96T,;ANNO=splicing:PITPNA
17	1518274	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC43A2:NM_152346:exon4:c.C423T:p.N141N,;ANNO=splicing:SLC43A2
17	1520064	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC43A2(NM_152346:c.160-1G>C)
17	1540235	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SCARF1:NM_145350:exon9:c.G1486A:p.A496T,SCARF1:NM_145352:exon7:c.G1228A:p.V410I,SCARF1:NM_003693:exon9:c.G1486A:p.V496I,;ANNO=splicing:SCARF1
17	1560055	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PRPF8:NM_006445:exon35:c.T5506C:p.L1836L,;ANNO=splicing:PRPF8
17	1674477	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SERPINF1:NM_002615:exon4:c.G438A:p.K146K,;ANNO=splicing:SERPINF1
17	1675167	.	G	C	100	PASS	AC=13;STUDIES=7;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SERPINF1:NM_002615:exon5:c.G441C:p.K147N,;ANNO=splicing:SERPINF1
17	1678353	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SERPINF1:NM_002615:exon6:c.G645C:p.G215G,;ANNO=splicing:SERPINF1
17	1945898	.	G	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DPH1(NM_001383:c.1350-1G>A),OVCA2(NM_080822:c.184-1G>A)
17	2228713	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TSR1:NM_018128:exon12:c.G1905A:p.A635A,;ANNO=splicing:TSR1
17	2233918	.	A	C	100	PASS	AC=99;STUDIES=4;MAC=99;MAF=0.068;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TSR1:NM_018128:exon10:c.T1661G:p.V554G,;ANNO=splicing:TSR1
17	2266892	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SGSM2:NM_001098509:exon7:c.C806T:p.P269L,SGSM2:NM_014853:exon7:c.C806T:p.P269L,;ANNO=splicing:SGSM2
17	2274557	.	C	T	100	PASS	AC=44;STUDIES=5;MAC=44;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SGSM2:NM_001098509:exon12:c.C1290T:p.N430N,SGSM2:NM_014853:exon13:c.C1425T:p.D475D,;ANNO=splicing:SGSM2
17	2579900	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:PAFAH1B1:NM_000430:exon9:c.C1002T:p.L334L,;ANNO=splicing:PAFAH1B1
17	2884541	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:RAP1GAP2:NM_015085:exon10:c.A728G:p.K243R,RAP1GAP2:NM_001100398:exon9:c.A683G:p.K228R,;ANNO=splicing:RAP1GAP2
17	2898631	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RAP1GAP2:NM_015085:exon13:c.T915C:p.G305G,RAP1GAP2:NM_001100398:exon12:c.T870C:p.G290G,;ANNO=splicing:RAP1GAP2
17	2934291	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RAP1GAP2:NM_015085:exon23:c.C2183T:p.A728V,RAP1GAP2:NM_001100398:exon22:c.C2138T:p.A713V,;ANNO=splicing:RAP1GAP2
17	3366063	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPATA22(NM_001170699:c.172-2A>G,NM_001170695:c.172-2A>G,NM_001170697:c.172-2A>G,NM_001170696:c.43-2A>G,NM_001170698:c.172-2A>G,NM_032598:c.172-2A>G)
17	3447959	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TRPV3:NM_145068:exon4:c.C225T:p.C75C,;ANNO=splicing:TRPV3
17	3475417	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRPV1:NM_018727:exon14:c.A2230G:p.R744G,TRPV1:NM_080704:exon15:c.A2230G:p.R744G,TRPV1:NM_080705:exon14:c.A2230G:p.R744G,TRPV1:NM_080706:exon13:c.A2230G:p.R744G,;ANNO=splicing:TRPV1
17	3477248	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TRPV1:NM_018727:exon13:c.G1782A:p.A594A,TRPV1:NM_080704:exon14:c.G1782A:p.A594A,TRPV1:NM_080705:exon13:c.G1782A:p.A594A,TRPV1:NM_080706:exon12:c.G1782A:p.A594A,;ANNO=splicing:TRPV1
17	3486631	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRPV1(NM_080706:c.1476+1G>A,NM_080705:c.1476+1G>A,NM_080704:c.1476+1G>A,NM_018727:c.1476+1G>A)
17	3493547	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TRPV1:NM_018727:exon5:c.C744T:p.F248F,TRPV1:NM_080704:exon6:c.C744T:p.F248F,TRPV1:NM_080705:exon5:c.C744T:p.F248F,TRPV1:NM_080706:exon4:c.C744T:p.F248F,;ANNO=splicing:TRPV1
17	3533500	.	T	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SHPK:NM_013276:exon2:c.A309T:p.Q103H,;ANNO=splicing:SHPK
17	3558394	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CTNS:NM_004937:exon6:c.G328A:p.G110S,CTNS:NM_001031681:exon6:c.G328A:p.G110S,;ANNO=splicing:CTNS
17	3559781	.	T	C	100	PASS	AC=751;STUDIES=14;MAC=751;MAF=0.053;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CTNS:NM_004937:exon8:c.T462C:p.S154S,CTNS:NM_001031681:exon8:c.T462C:p.S154S,;ANNO=splicing:CTNS
17	3563268	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CTNS:NM_004937:exon11:c.C969T:p.N323N,CTNS:NM_001031681:exon11:c.C969T:p.N323N,;ANNO=splicing:CTNS
17	3563269	.	G	A	100	PASS	AC=21;STUDIES=8;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CTNS:NM_004937:exon11:c.G970A:p.D324N,CTNS:NM_001031681:exon11:c.G970A:p.D324N,;ANNO=splicing:CTNS
17	3594250	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:P2RX5:NM_002561:exon3:c.G360A:p.E120E,P2RX5:NM_001204519:exon3:c.G360A:p.E120E,;ANNO=splicing:P2RX5
17	3627037	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITGAE:NM_002208:exon27:c.C3086T:p.A1029V,;ANNO=splicing:ITGAE
17	3643099	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITGAE:NM_002208:exon20:c.A2522G:p.Q841R,;ANNO=splicing:ITGAE
17	3649221	.	C	G	100	PASS	AC=36;STUDIES=13;MAC=36;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITGAE:NM_002208:exon18:c.G2156C:p.G719A,;ANNO=splicing:ITGAE
17	3653647	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITGAE:NM_002208:exon16:c.C2023T:p.R675C,;ANNO=splicing:ITGAE
17	3658410	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITGAE(NM_002208:c.1384+1G>A)
17	3661000	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ITGAE:NM_002208:exon9:c.G1020A:p.G340G,;ANNO=splicing:ITGAE
17	3680953	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ITGAE:NM_002208:exon2:c.C36T:p.S12S,;ANNO=splicing:ITGAE
17	3775848	.	T	C	100	PASS	AC=9404;STUDIES=22;MAC=9404;MAF=0.388;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CAMKK1:NM_032294:exon12:c.A1124G:p.E375G,CAMKK1:NM_172207:exon13:c.A1238G:p.E413G,CAMKK1:NM_172206:exon12:c.A1124G:p.E375G,;ANNO=splicing:CAMKK1
17	3808223	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:P2RX1:NM_002558:exon3:c.G286A:p.G96R,;ANNO=splicing:P2RX1
17	3955266	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZZEF1:NM_015113:exon35:c.G5599A:p.G1867S,;ANNO=splicing:ZZEF1
17	3985799	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZZEF1(NM_015113:c.2646-1G>T)
17	4012947	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZZEF1:NM_015113:exon6:c.A1277G:p.Q426R,;ANNO=splicing:ZZEF1
17	4013157	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZZEF1:NM_015113:exon6:c.A1067G:p.Y356C,;ANNO=splicing:ZZEF1
17	4027202	.	T	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZZEF1:NM_015113:exon2:c.A498C:p.P166P,;ANNO=splicing:ZZEF1
17	4058153	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CYB5D2:NM_144611:exon3:c.A577G:p.S193G,;ANNO=splicing:CYB5D2
17	4075852	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ANKFY1:NM_016376:exon22:c.G3141A:p.T1047T,;ANNO=splicing:ANKFY1
17	4139185	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ANKFY1:NM_020740:exon3:c.C204T:p.S68S,ANKFY1:NM_016376:exon3:c.C204T:p.S68S,;ANNO=splicing:ANKFY1
17	4436273	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPNS2:NM_001124758:exon7:c.C937T:p.R313C,;ANNO=splicing:SPNS2
17	4443261	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYBBP1A:NM_014520:exon26:c.C3436T:p.R1146C,MYBBP1A:NM_001105538:exon26:c.C3436T:p.R1146C,;ANNO=splicing:MYBBP1A
17	4445911	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYBBP1A:NM_014520:exon21:c.G3018A:p.P1006P,MYBBP1A:NM_001105538:exon21:c.G3018A:p.P1006P,;ANNO=splicing:MYBBP1A
17	4447784	.	G	A	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYBBP1A:NM_014520:exon19:c.C2639T:p.T880M,MYBBP1A:NM_001105538:exon19:c.C2639T:p.T880M,;ANNO=splicing:MYBBP1A
17	4447941	.	C	G	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYBBP1A:NM_014520:exon19:c.G2482C:p.V828L,MYBBP1A:NM_001105538:exon19:c.G2482C:p.V828L,;ANNO=splicing:MYBBP1A
17	4496467	.	G	T	100	PASS	AC=19;STUDIES=2;MAC=19;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SMTNL2(NM_198501:c.298+1G>T,NM_001114974:c.730+1G>T)
17	4535353	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:ALOX15(NM_001140:c.1641-2A>G);ANNO=splicing:ALOX15(NM_001140:c.1641-2A>C)
17	4542146	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ALOX15:NM_001140:exon4:c.G541A:p.G181R,;ANNO=splicing:ALOX15
17	4542725	.	C	T	100	PASS	AC=691;STUDIES=7;MAC=691;MAF=0.071;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:ALOX15:NM_001140:exon2:c.G337A:p.G113S,;ANNO=splicing:ALOX15
17	4542928	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ALOX15(NM_001140:c.135-2A>C)
17	4619903	.	C	A	100	PASS	AC=24;STUDIES=8;MAC=24;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARRB2:NM_004313:exon5:c.C357A:p.T119T,ARRB2:NM_199004:exon4:c.C312A:p.T104T,;ANNO=splicing:ARRB2
17	4620512	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARRB2:NM_004313:exon6:c.A358G:p.I120V,ARRB2:NM_199004:exon5:c.A313G:p.I105V,;ANNO=splicing:ARRB2
17	4623512	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARRB2:NM_004313:exon12:c.G919A:p.V307M,ARRB2:NM_199004:exon11:c.G874A:p.V292M,;ANNO=splicing:ARRB2
17	4645211	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZMYND15:NM_032265:exon4:c.G829A:p.E277K,ZMYND15:NM_001136046:exon4:c.G829A:p.E277K,;ANNO=splicing:ZMYND15
17	4684084	.	G	A	100	PASS	AC=20;STUDIES=6;MAC=20;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TM4SF5:NM_003963:exon2:c.G178A:p.V60I,;ANNO=splicing:TM4SF5
17	4693054	.	G	A	100	PASS	AC=10476;STUDIES=19;MAC=10150;MAF=0.492;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:GLTPD2:NM_001014985:exon4:c.G339G:p.E113E,;ANNO=synonymous:GLTPD2:NM_001014985:exon4:c.G339A:p.E113E,;ANNO=splicing:GLTPD2;ANNO=splicing:GLTPD2
17	4711569	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLD2:NM_002663:exon4:c.G241A:p.V81M,;ANNO=splicing:PLD2
17	4711710	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:PLD2:NM_002663:exon4:c.C382G:p.R128G,;ANNO=stopgain:PLD2:NM_002663:exon4:c.C382T:p.R128X,;ANNO=splicing:PLD2;ANNO=splicing:PLD2
17	4712395	.	A	T	100	PASS	AC=6986;STUDIES=22;MAC=6986;MAF=0.290;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLD2:NM_002663:exon5:c.A384T:p.R128R,;ANNO=splicing:PLD2
17	4722876	.	G	A	100	PASS	AC=4056;STUDIES=22;MAC=4056;MAF=0.168;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLD2:NM_002663:exon23:c.G2461A:p.G821S,;ANNO=splicing:PLD2
17	4796274	.	T	C	100	PASS	AC=5410;STUDIES=12;MAC=5410;MAF=0.478;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;HWE_FAILURES=3;ANNO=nonsynonymous:MINK1:NM_001024937:exon20:c.T2252C:p.V751A,MINK1:NM_015716:exon19:c.T2201C:p.V734A,MINK1:NM_153827:exon20:c.T2312C:p.V771A,MINK1:NM_170663:exon19:c.T2201C:p.V734A,;ANNO=splicing:MINK1
17	4797388	.	C	T	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MINK1:NM_001024937:exon22:c.C2610T:p.R870R,MINK1:NM_015716:exon21:c.C2559T:p.R853R,MINK1:NM_153827:exon22:c.C2670T:p.R890R,MINK1:NM_170663:exon22:c.C2583T:p.R861R,;ANNO=splicing:MINK1
17	4797606	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MINK1:NM_001024937:exon23:c.C2748T:p.D916D,MINK1:NM_015716:exon22:c.C2697T:p.D899D,MINK1:NM_153827:exon23:c.C2808T:p.D936D,MINK1:NM_170663:exon23:c.C2721T:p.D907D,;ANNO=splicing:MINK1
17	4802763	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CHRNE:NM_000080:exon9:c.C1032T:p.H344H,;ANNO=splicing:CHRNE
17	4806314	.	G	A	100	PASS	AC=343;STUDIES=17;MAC=343;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CHRNE:NM_000080:exon1:c.C45T:p.L15L,;ANNO=splicing:CHRNE
17	4835895	.	T	C	100	PASS	AC=1282;STUDIES=9;MAC=1282;MAF=0.153;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:GP1BA
17	4849291	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:PFN1:NM_005022:exon3:c.G327A:p.T109T,;ANNO=splicing:PFN1
17	4907294	.	A	C	100	PASS	AC=38;STUDIES=15;MAC=38;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIF1C:NM_006612:exon11:c.A866C:p.Q289P,;ANNO=splicing:KIF1C
17	5036205	.	A	C	100	PASS	AC=85;STUDIES=3;MAC=85;MAF=0.038;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:USP6:NM_004505:exon5:c.A196C:p.K66Q,;ANNO=splicing:USP6
17	5036285	.	A	G	100	PASS	AC=148;STUDIES=8;MAC=148;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_REVERSE;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:USP6:NM_004505:exon5:c.A276G:p.K92K,;ANNO=splicing:USP6
17	5038576	.	C	T	100	PASS	AC=147;STUDIES=7;MAC=147;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:USP6:NM_004505:exon8:c.C542T:p.P181L,;ANNO=splicing:USP6
17	5038577	.	G	A	100	PASS	AC=101;STUDIES=3;MAC=101;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:USP6:NM_004505:exon8:c.G543A:p.P181P,;ANNO=splicing:USP6
17	5040946	.	A	C	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:USP6:NM_004505:exon12:c.A826C:p.I276L,;ANNO=splicing:USP6
17	5044794	.	G	A	100	PASS	AC=1390;STUDIES=21;MAC=1390;MAF=0.059;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:USP6:NM_004505:exon15:c.G1573A:p.V525I,;ANNO=splicing:USP6
17	5047986	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:USP6:NM_004505:exon18:c.G1820A:p.R607Q,;ANNO=nonsynonymous:USP6:NM_004505:exon18:c.G1820C:p.R607P,;ANNO=splicing:USP6;ANNO=splicing:USP6
17	5271763	.	G	C	100	PASS	AC=923;STUDIES=22;MAC=923;MAF=0.039;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RABEP1:NM_001083585:exon12:c.G1884C:p.M628I,RABEP1:NM_004703:exon12:c.G1884C:p.M628I,;ANNO=splicing:RABEP1
17	5276610	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:RABEP1:NM_001083585:exon13:c.C1886T:p.A629V,RABEP1:NM_004703:exon13:c.C1886T:p.A629V,;ANNO=splicing:RABEP1
17	5283659	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RABEP1:NM_004703:exon16:c.T2272C:p.L758L,;ANNO=splicing:RABEP1
17	5308377	.	C	T	100	PASS	AC=4300;STUDIES=21;MAC=4300;MAF=0.190;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:NUP88:NM_002532:exon6:c.G1044A:p.T348T,;ANNO=splicing:NUP88
17	5324787	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RPAIN(NM_001160243:c.252+1G>A,NM_001160266:c.252+1G>A,NM_001160246:c.252+1G>A,NM_001160244:c.252+1G>A,NM_001160267:c.252+1G>A,NM_001033002:c.252+1G>A)
17	5326089	.	C	T	100	PASS	AC=6174;STUDIES=20;MAC=6174;MAF=0.297;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:RPAIN:NM_001160244:exon3:c.C253T:p.L85L,RPAIN:NM_001160267:exon3:c.C253T:p.L85L,RPAIN:NM_001160266:exon3:c.C253T:p.L85L,RPAIN:NM_001160243:exon3:c.C253T:p.L85L,RPAIN:NM_001160246:exon3:c.C253T:p.L85L,RPAIN:NM_001033002:exon3:c.C253T:p.L85L,;ANNO=splicing:RPAIN
17	5418392	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NLRP1:NM_033007:exon15:c.C3882G:p.A1294A,NLRP1:NM_014922:exon16:c.C3972G:p.A1324A,NLRP1:NM_033004:exon17:c.C4104G:p.A1368A,NLRP1:NM_033006:exon16:c.C4014G:p.A1338A,;ANNO=splicing:NLRP1
17	5436142	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NLRP1:NM_033007:exon10:c.G3206A:p.R1069Q,NLRP1:NM_014922:exon11:c.G3296A:p.R1099Q,NLRP1:NM_033004:exon11:c.G3296A:p.R1099Q,NLRP1:NM_001033053:exon11:c.G3308A:p.R1103Q,NLRP1:NM_033006:exon10:c.G3206A:p.R1069Q,;ANNO=splicing:NLRP1
17	6331828	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AIPL1(NM_014336:c.276-2A>G,NM_001033055:c.96-2A>G)
17	6337417	.	A	G	100	PASS	AC=36;STUDIES=5;MAC=36;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AIPL1:NM_001033054:exon2:c.T98C:p.V33A,AIPL1:NM_014336:exon2:c.T98C:p.V33A,;ANNO=splicing:AIPL1
17	6352633	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM64A:NM_019013:exon4:c.G592A:p.E198K,FAM64A:NM_001195228:exon4:c.G592A:p.E198K,;ANNO=splicing:FAM64A
17	6524317	.	G	C	100	PASS	AC=65;STUDIES=3;MAC=65;MAF=0.053;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA0753:NM_014804:exon7:c.C1106G:p.A369G,;ANNO=splicing:KIAA0753
17	6719282	.	C	T	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TEKT1(NM_053285:c.356-1G>A)
17	6919093	.	T	C	100	PASS	AC=17937;STUDIES=21;MAC=4549;MAF=0.202;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:C17orf49:NM_001142798:exon3:c.T117C:p.G39G,C17orf49:NM_174893:exon3:c.T117C:p.G39G,;ANNO=splicing:C17orf49
17	6920576	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C17orf49:NM_001142798:exon6:c.A515G:p.D172G,;ANNO=splicing:C17orf49
17	6946392	.	C	T	100	PASS	AC=165;STUDIES=7;MAC=165;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC16A11:NM_153357:exon2:c.G275A:p.S92N,;ANNO=splicing:SLC16A11
17	6978677	.	A	G	100	PASS	AC=33;STUDIES=4;MAC=33;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC10A(NM_006344:c.710+2T>C,NM_182906:c.782+2T>C)
17	6979203	.	G	C	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CLEC10A:NM_182906:exon7:c.C522G:p.A174A,CLEC10A:NM_006344:exon7:c.C450G:p.A150A,;ANNO=splicing:CLEC10A
17	6980210	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC10A(NM_006344:c.280+1G>T,NM_182906:c.280+1G>T)
17	7005058	.	T	A	100	PASS	AC=82;STUDIES=6;MAC=82;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ASGR2:NM_001181:exon9:c.A772T:p.N258Y,ASGR2:NM_080914:exon8:c.A715T:p.N239Y,ASGR2:NM_080913:exon9:c.A700T:p.N234Y,ASGR2:NM_080912:exon9:c.A772T:p.N258Y,ASGR2:NM_001201352:exon9:c.A757T:p.N253Y,;ANNO=splicing:ASGR2
17	7010550	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ASGR2:NM_001181:exon6:c.G511A:p.G171S,ASGR2:NM_080914:exon5:c.G454A:p.G152S,ASGR2:NM_080913:exon6:c.G439A:p.G147S,ASGR2:NM_080912:exon6:c.G511A:p.G171S,ASGR2:NM_001201352:exon6:c.G496A:p.G166S,;ANNO=splicing:ASGR2
17	7011225	.	T	G	100	PASS	AC=1870;STUDIES=22;MAC=1870;MAF=0.078;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ASGR2:NM_001181:exon5:c.A354C:p.G118G,ASGR2:NM_080914:exon4:c.A297C:p.G99G,ASGR2:NM_080913:exon5:c.A282C:p.G94G,ASGR2:NM_080912:exon5:c.A354C:p.G118G,ASGR2:NM_001201352:exon5:c.A339C:p.G113G,;ANNO=splicing:ASGR2
17	7011782	.	G	A	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ASGR2:NM_001181:exon4:c.C351T:p.H117H,ASGR2:NM_080914:exon3:c.C294T:p.H98H,ASGR2:NM_080913:exon4:c.C279T:p.H93H,ASGR2:NM_080912:exon4:c.C351T:p.H117H,ASGR2:NM_001201352:exon4:c.C336T:p.H112H,;ANNO=splicing:ASGR2
17	7012077	.	C	T	100	PASS	AC=4605;STUDIES=15;MAC=4605;MAF=0.236;EXON_REVERSE;SNP_ON_LEFT;SNP_ON_RIGHT;DESIGN_FAILED;ANNO=synonymous:ASGR2:NM_001181:exon3:c.G255A:p.G85G,ASGR2:NM_080914:exon2:c.G198A:p.G66G,ASGR2:NM_080912:exon3:c.G255A:p.G85G,;ANNO=splicing:ASGR2
17	7127562	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACADVL:NM_001033859:exon14:c.G1466A:p.R489Q,ACADVL:NM_000018:exon15:c.G1532A:p.R511Q,;ANNO=splicing:ACADVL
17	7162001	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C17orf81:NM_203415:exon7:c.C734T:p.P245L,C17orf81:NM_203413:exon7:c.C734T:p.P245L,C17orf81:NM_203414:exon6:c.C734T:p.P245L,C17orf81:NM_015362:exon7:c.C734T:p.P245L,;ANNO=splicing:C17orf81
17	7162146	.	T	C	100	PASS	AC=54;STUDIES=3;MAC=54;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C17orf81:NM_203415:exon8:c.T737C:p.V246A,C17orf81:NM_203414:exon7:c.T737C:p.V246A,C17orf81:NM_015362:exon8:c.T737C:p.V246A,;ANNO=splicing:C17orf81
17	7163961	.	T	C	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CLDN7:NM_001185022:exon4:c.A473G:p.K158R,CLDN7:NM_001307:exon3:c.A473G:p.K158R,;ANNO=splicing:CLDN7
17	7189746	.	A	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC2A4:NM_001042:exon11:c.A1328C:p.E443A,;ANNO=splicing:SLC2A4
17	7215142	.	G	A	100	PASS	AC=483;STUDIES=3;MAC=483;MAF=0.233;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:EIF5A
17	7221385	.	G	A	100	PASS	AC=11632;STUDIES=20;MAC=7566;MAF=0.394;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:NEURL4:NM_032442:exon25:c.C4059T:p.P1353P,NEURL4:NM_001005408:exon25:c.C4053T:p.P1351P,;ANNO=splicing:NEURL4
17	7221589	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NEURL4:NM_032442:exon24:c.C3951T:p.D1317D,NEURL4:NM_001005408:exon24:c.C3945T:p.D1315D,;ANNO=splicing:NEURL4
17	7226274	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=synonymous:NEURL4:NM_032442:exon15:c.G2586A:p.P862P,NEURL4:NM_001005408:exon15:c.G2586A:p.P862P,;ANNO=splicing:NEURL4
17	7227133	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NEURL4:NM_032442:exon12:c.G2261A:p.R754Q,NEURL4:NM_001005408:exon12:c.G2261A:p.R754Q,;ANNO=splicing:NEURL4
17	7231203	.	C	T	100	PASS	AC=56;STUDIES=13;MAC=56;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NEURL4:NM_032442:exon2:c.G283A:p.V95I,NEURL4:NM_001005408:exon2:c.G283A:p.V95I,;ANNO=splicing:NEURL4
17	7240106	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACAP1:NM_014716:exon1:c.G53A:p.R18Q,;ANNO=splicing:ACAP1
17	7240632	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ACAP1:NM_014716:exon2:c.G55A:p.A19T,;ANNO=splicing:ACAP1
17	7245267	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACAP1:NM_014716:exon3:c.C112G:p.L38V,;ANNO=splicing:ACAP1
17	7290695	.	A	G	100	PASS	AC=925;STUDIES=14;MAC=925;MAF=0.053;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TNK1(NM_003985:c.1397-2A>G)
17	7292107	.	G	A	100	PASS	AC=17225;STUDIES=19;MAC=1929;MAF=0.101;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:TNK1:NM_003985:exon12:c.G1777A:p.V593M,;ANNO=splicing:TNK1
17	7324950	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:SPEM1
17	7402600	.	T	C	100	PASS	AC=18158;STUDIES=22;MAC=6168;MAF=0.254;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:POLR2A:NM_000937:exon10:c.T1461C:p.S487S,;ANNO=splicing:POLR2A
17	7466384	.	G	A	100	PASS	AC=20;STUDIES=6;MAC=20;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:SENP3
17	7467942	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SENP3:NM_015670:exon3:c.G716A:p.G239D,;ANNO=splicing:SENP3
17	7468277	.	C	T	100	PASS	AC=540;STUDIES=18;MAC=540;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SENP3:NM_015670:exon4:c.C957T:p.S319S,;ANNO=splicing:SENP3
17	7483046	.	T	G	100	PASS	AC=14;STUDIES=2;MAC=14;MAF=0.063;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD68(NM_001251:c.49+2T>G,NM_001040059:c.49+2T>G)
17	7484101	.	C	A	100	PASS	AC=3798;STUDIES=22;MAC=3798;MAF=0.156;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CD68:NM_001251:exon4:c.C760A:p.Q254K,CD68:NM_001040059:exon4:c.C679A:p.Q227K,;ANNO=splicing:CD68
17	7530732	.	C	T	100	PASS	AC=22;STUDIES=5;MAC=22;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SAT2:NM_133491:exon2:c.G67A:p.E23K,;ANNO=splicing:SAT2
17	7530888	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SAT2:NM_133491:exon1:c.G66T:p.R22R,;ANNO=splicing:SAT2
17	7530889	.	C	A	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SAT2:NM_133491:exon1:c.G65T:p.R22L,;ANNO=splicing:SAT2
17	7534678	.	C	T	100	PASS	AC=114;STUDIES=17;MAC=114;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SHBG:NM_001040:exon4:c.C554T:p.P185L,SHBG:NM_001146280:exon4:c.C554T:p.P185L,SHBG:NM_001146279:exon4:c.C554T:p.P185L,SHBG:NM_001146281:exon4:c.C554T:p.P185L,;ANNO=splicing:SHBG
17	7592543	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WRAP53:NM_001143990:exon3:c.G433A:p.A145T,WRAP53:NM_001143991:exon3:c.G433A:p.A145T,WRAP53:NM_001143992:exon3:c.G433A:p.A145T,WRAP53:NM_018081:exon2:c.G433A:p.A145T,;ANNO=splicing:WRAP53
17	7604777	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:WRAP53:NM_001143990:exon6:c.C732T:p.Y244Y,WRAP53:NM_001143991:exon6:c.C732T:p.Y244Y,WRAP53:NM_001143992:exon6:c.C732T:p.Y244Y,WRAP53:NM_018081:exon5:c.C732T:p.Y244Y,;ANNO=splicing:WRAP53
17	7604778	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WRAP53:NM_001143990:exon6:c.G733A:p.V245M,WRAP53:NM_001143991:exon6:c.G733A:p.V245M,WRAP53:NM_001143992:exon6:c.G733A:p.V245M,WRAP53:NM_018081:exon5:c.G733A:p.V245M,;ANNO=splicing:WRAP53
17	7637789	.	C	T	100	PASS	AC=332;STUDIES=20;MAC=332;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DNAH2:NM_020877:exon6:c.C741T:p.T247T,;ANNO=splicing:DNAH2
17	7734404	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DNAH2:NM_020877:exon79:c.G12231A:p.R4077R,;ANNO=splicing:DNAH2
17	7755814	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KDM6B:NM_001080424:exon20:c.C4470G:p.A1490A,;ANNO=splicing:KDM6B
17	7761798	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CYB5D1(NM_144607:c.237+1G>C)
17	7797253	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CHD3:NM_005852:exon6:c.G924A:p.S308S,CHD3:NM_001005271:exon6:c.G1101A:p.S367S,CHD3:NM_001005273:exon6:c.G924A:p.S308S,;ANNO=splicing:CHD3
17	7813908	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CHD3:NM_005852:exon37:c.C5651T:p.P1884L,CHD3:NM_001005271:exon38:c.C5930T:p.P1977L,CHD3:NM_001005273:exon38:c.C5753T:p.P1918L,;ANNO=splicing:CHD3
17	7827285	.	C	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KCNAB3(NM_004732:c.927+1G>T)
17	7837540	.	C	T	100	PASS	AC=21;STUDIES=10;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CNTROB:NM_053051:exon2:c.C355T:p.R119W,CNTROB:NM_001037144:exon2:c.C355T:p.R119W,;ANNO=splicing:CNTROB
17	7847955	.	C	A	100	PASS	AC=10622;STUDIES=20;MAC=10622;MAF=0.486;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CNTROB:NM_053051:exon12:c.C1733A:p.P578Q,CNTROB:NM_001037144:exon12:c.C1733A:p.P578Q,;ANNO=splicing:CNTROB
17	7850890	.	T	C	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CNTROB:NM_053051:exon14:c.T1995C:p.A665A,CNTROB:NM_001037144:exon14:c.T1995C:p.A665A,;ANNO=splicing:CNTROB
17	7918177	.	G	T	100	PASS	AC=67;STUDIES=11;MAC=67;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GUCY2D:NM_000180:exon14:c.G2577T:p.P859P,;ANNO=splicing:GUCY2D
17	7919158	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GUCY2D:NM_000180:exon16:c.G3042A:p.L1014L,;ANNO=splicing:GUCY2D
17	7950394	.	G	A	100	PASS	AC=1208;STUDIES=21;MAC=1208;MAF=0.051;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALOX15B:NM_001039130:exon9:c.G1370A:p.R457H,ALOX15B:NM_001141:exon10:c.G1457A:p.R486H,;ANNO=splicing:ALOX15B
17	7984203	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ALOX12B:NM_001139:exon4:c.G526A:p.E176K,;ANNO=splicing:ALOX12B
17	7990614	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ALOX12B:NM_001139:exon1:c.G147A:p.A49A,;ANNO=splicing:ALOX12B
17	8006813	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ALOXE3(NM_021628:c.1785-2A>G,NM_001165960:c.2181-2A>G)
17	8017802	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ALOXE3:NM_001165960:exon6:c.C1076T:p.A359V,ALOXE3:NM_021628:exon6:c.C680T:p.A227V,;ANNO=splicing:ALOXE3
17	8050992	.	G	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PER1:NM_002616:exon11:c.C1388A:p.T463K,;ANNO=splicing:PER1
17	8132763	.	T	C	100	PASS	AC=17608;STUDIES=21;MAC=4844;MAF=0.216;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:CTC1:NM_025099:exon19:c.A3013G:p.I1005V,;ANNO=splicing:CTC1
17	8248794	.	C	T	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ODF4:NM_153007:exon2:c.C588T:p.C196C,;ANNO=splicing:ODF4
17	8379265	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:MYH10:NM_005964:exon41:c.C5788T:p.R1930W,;ANNO=synonymous:MYH10:NM_005964:exon41:c.C5788A:p.R1930R,;ANNO=splicing:MYH10;ANNO=splicing:MYH10
17	8449979	.	A	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MYH10:NM_005964:exon11:c.T1131G:p.V377V,;ANNO=splicing:MYH10
17	8706748	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:PIK3R6(NM_001010855:c.2107-1G>A)
17	8707470	.	G	A	100	PASS	AC=34;STUDIES=7;MAC=34;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:PIK3R6:NM_001010855:exon19:c.C1996T:p.Q666X,;ANNO=splicing:PIK3R6
17	9760892	.	A	C	100	PASS	AC=113;STUDIES=6;MAC=113;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GLP2R:NM_004246:exon6:c.A764C:p.E255A,;ANNO=splicing:GLP2R
17	9783695	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GLP2R:NM_004246:exon11:c.A1146G:p.R382R,;ANNO=splicing:GLP2R
17	10243717	.	G	A	100	PASS	AC=16565;STUDIES=19;MAC=3507;MAF=0.175;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=synonymous:MYH13:NM_003802:exon17:c.C1896T:p.G632G,;ANNO=splicing:MYH13
17	10263387	.	C	T	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:MYH13:NM_003802:exon7:c.G535A:p.G179R,;ANNO=splicing:MYH13
17	10265676	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:MYH13(NM_003802:c.348+1G>A)
17	10295963	.	C	T	100	PASS	AC=35;STUDIES=5;MAC=35;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYH8:NM_002472:exon38:c.G5464A:p.V1822I,;ANNO=splicing:MYH8
17	10298448	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYH8(NM_002472:c.4962+2T>C)
17	10312480	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MYH8:NM_002472:exon17:c.T1899C:p.D633D,;ANNO=splicing:MYH8
17	10318897	.	G	A	100	PASS	AC=36;STUDIES=8;MAC=36;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:MYH8:NM_002472:exon7:c.C540T:p.T180T,;ANNO=splicing:MYH8
17	10318997	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:MYH8(NM_002472:c.539+1G>C);ANNO=splicing:MYH8(NM_002472:c.539+1G>A)
17	10324980	.	C	T	100	PASS	AC=986;STUDIES=2;MAC=986;MAF=0.499;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:MYH8
17	10355646	.	G	T	100	PASS	AC=49;STUDIES=8;MAC=49;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:MYH4:NM_017533:exon27:c.C3350A:p.A1117D,;ANNO=splicing:MYH4
17	10355732	.	C	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYH4(NM_017533:c.3348+1G>T)
17	10356645	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:MYH4:NM_017533:exon24:c.G2935A:p.V979M,;ANNO=splicing:MYH4
17	10364373	.	T	G	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYH4(NM_017533:c.1008-2A>C)
17	10368916	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYH4(NM_017533:c.348-1G>C)
17	10397671	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYH1:NM_005963:exon39:c.G5667A:p.A1889A,;ANNO=splicing:MYH1
17	10397672	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYH1:NM_005963:exon39:c.C5666T:p.A1889V,;ANNO=splicing:MYH1
17	10399867	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYH1(NM_005963:c.4656-1G>C)
17	10408381	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYH1:NM_005963:exon22:c.G2437C:p.E813Q,;ANNO=splicing:MYH1
17	10417137	.	C	T	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:MYH1(NM_005963:c.741+1G>A)
17	10418185	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYH1:NM_005963:exon6:c.C533T:p.T178I,;ANNO=splicing:MYH1
17	10419515	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYH1(NM_005963:c.348+1G>A)
17	10426501	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYH2:NM_001100112:exon39:c.C5579T:p.T1860M,MYH2:NM_017534:exon39:c.C5579T:p.T1860M,;ANNO=splicing:MYH2
17	10426982	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYH2:NM_001100112:exon37:c.C5303G:p.A1768G,MYH2:NM_017534:exon37:c.C5303G:p.A1768G,;ANNO=splicing:MYH2
17	10438683	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:MYH2(NM_001100112:c.1974-1G>C,NM_017534:c.1974-1G>C);ANNO=splicing:MYH2(NM_001100112:c.1974-1G>A,NM_017534:c.1974-1G>A)
17	10533050	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYH3:NM_002470:exon39:c.A5660G:p.D1887G,;ANNO=splicing:MYH3
17	10541251	.	G	A	100	PASS	AC=20;STUDIES=9;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYH3:NM_002470:exon27:c.C3731T:p.A1244V,;ANNO=splicing:MYH3
17	10546313	.	A	G	100	PASS	AC=48;STUDIES=7;MAC=48;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYH3:NM_002470:exon14:c.T1411C:p.Y471H,;ANNO=splicing:MYH3
17	10555738	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYH3:NM_002470:exon3:c.A347G:p.Y116C,;ANNO=splicing:MYH3
17	11532900	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAH9:NM_001372:exon7:c.C1517T:p.T506M,;ANNO=splicing:DNAH9
17	11540100	.	T	G	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DNAH9:NM_001372:exon9:c.T1785G:p.L595L,;ANNO=splicing:DNAH9
17	11543588	.	G	A	100	PASS	AC=717;STUDIES=19;MAC=717;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DNAH9:NM_001372:exon10:c.G1788A:p.G596G,;ANNO=splicing:DNAH9
17	11659885	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DNAH9:NM_001372:exon34:c.G6739A:p.V2247M,;ANNO=splicing:DNAH9
17	11757744	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAH9:NM_001372:exon50:c.C9932A:p.A3311D,;ANNO=splicing:DNAH9
17	11783395	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DNAH9:NM_001372:exon54:c.C10479T:p.G3493G,;ANNO=splicing:DNAH9
17	11783517	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAH9:NM_001372:exon54:c.G10601A:p.R3534Q,;ANNO=splicing:DNAH9
17	11835329	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:DNAH9(NM_001372:c.12105-2A>G,NM_004662:c.1041-2A>G)
17	11835331	.	G	A	100	PASS	AC=6790;STUDIES=22;MAC=6790;MAF=0.281;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAH9:NM_004662:exon10:c.G1042A:p.D348N,DNAH9:NM_001372:exon64:c.G12106A:p.D4036N,;ANNO=splicing:DNAH9
17	12798257	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ARHGAP44:NM_014859:exon2:c.G54A:p.R18R,;ANNO=splicing:ARHGAP44
17	12799828	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGAP44:NM_014859:exon3:c.C198T:p.S66S,;ANNO=splicing:ARHGAP44
17	12899864	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:ELAC2:NM_001165962:exon16:c.G1539C:p.T513T,ELAC2:NM_173717:exon17:c.G1656C:p.T552T,ELAC2:NM_018127:exon17:c.G1659C:p.T553T,;ANNO=synonymous:ELAC2:NM_001165962:exon16:c.G1539A:p.T513T,ELAC2:NM_173717:exon17:c.G1656A:p.T552T,ELAC2:NM_018127:exon17:c.G1659A:p.T553T,;ANNO=splicing:ELAC2;ANNO=splicing:ELAC2
17	12915101	.	T	C	100	PASS	AC=25;STUDIES=4;MAC=25;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ELAC2(NM_018127:c.559-2A>G,NM_173717:c.559-2A>G)
17	13400134	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:HS3ST3A1:NM_006042:exon2:c.G601A:p.D201N,;ANNO=splicing:HS3ST3A1
17	14139888	.	C	T	100	PASS	AC=448;STUDIES=6;MAC=448;MAF=0.061;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;SNP_ON_RIGHT;ANNO=splicing:CDRT15(NM_001007530:c.262+1G>A)
17	14248345	.	G	A	100	PASS	AC=65;STUDIES=8;MAC=65;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:HS3ST3B1:NM_006041:exon2:c.G555A:p.R185R,;ANNO=splicing:HS3ST3B1
17	15231310	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TEKT3:NM_031898:exon4:c.C662T:p.T221M,;ANNO=splicing:TEKT3
17	15449097	.	A	C	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:FAM18B2(NM_145301:c.462+2T>G,NM_001135036:c.462+2T>G),FAM18B2-CDRT4(NM_001204478:c.462+2T>G)
17	15496809	.	T	C	100	PASS	AC=19;STUDIES=9;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:CDRT1:NM_006382:exon11:c.A1848G:p.K616K,;ANNO=splicing:CDRT1
17	15510888	.	G	A	100	PASS	AC=3233;STUDIES=19;MAC=3233;MAF=0.169;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:CDRT1:NM_006382:exon6:c.C1232T:p.T411M,;ANNO=splicing:CDRT1
17	15897071	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZSWIM7:NM_001042698:exon2:c.C98T:p.S33L,ZSWIM7:NM_001042697:exon2:c.C98T:p.S33L,;ANNO=splicing:ZSWIM7
17	15938257	.	T	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NCOR1:NM_001190440:exon44:c.A6648G:p.G2216G,NCOR1:NM_006311:exon45:c.A6957G:p.G2319G,;ANNO=splicing:NCOR1
17	16203203	.	G	T	100	PASS	AC=15;STUDIES=7;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PIGL:NM_004278:exon3:c.G337T:p.D113Y,;ANNO=splicing:PIGL
17	16246254	.	T	C	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CENPV:NM_181716:exon5:c.A696G:p.G232G,;ANNO=splicing:CENPV
17	16247912	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CENPV:NM_181716:exon4:c.C693T:p.F231F,;ANNO=splicing:CENPV
17	16338283	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:TRPV2:NM_016113:exon14:c.C2194T:p.R732X,;ANNO=splicing:TRPV2
17	16340316	.	A	C	100	PASS	AC=735;STUDIES=3;MAC=735;MAF=0.356;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:TRPV2
17	16537270	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF624:NM_020787:exon5:c.G282A:p.G94G,;ANNO=splicing:ZNF624
17	16635980	.	G	A	100	PASS	AC=1737;STUDIES=19;MAC=1737;MAF=0.090;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:CCDC144A:NM_014695:exon11:c.G2418A:p.E806E,;ANNO=splicing:CCDC144A
17	17150874	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COPS3:NM_003653:exon11:c.A1138G:p.M380V,COPS3:NM_001199125:exon11:c.A1078G:p.M360V,;ANNO=splicing:COPS3
17	17226560	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NT5M(NM_020201:c.429+1G>A)
17	17718150	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=synonymous:SREBF1:NM_001005291:exon15:c.C2691T:p.T897T,SREBF1:NM_004176:exon14:c.C2601T:p.T867T,;ANNO=splicing:SREBF1
17	17722768	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SREBF1:NM_001005291:exon5:c.G802A:p.V268I,SREBF1:NM_004176:exon4:c.G712A:p.V238I,;ANNO=splicing:SREBF1
17	17801910	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:TOM1L2:NM_001082968:exon3:c.A216T:p.T72T,TOM1L2:NM_001033551:exon3:c.A216T:p.T72T,;ANNO=synonymous:TOM1L2:NM_001082968:exon3:c.A216G:p.T72T,TOM1L2:NM_001033551:exon3:c.A216G:p.T72T,;ANNO=splicing:TOM1L2;ANNO=splicing:TOM1L2
17	17942194	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ATPAF2(NM_145691:c.133+1G>T)
17	18028545	.	C	T	100	PASS	AC=38;STUDIES=10;MAC=38;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MYO15A:NM_016239:exon4:c.C3756T:p.Y1252Y,;ANNO=splicing:MYO15A
17	18034551	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO15A:NM_016239:exon8:c.A4037G:p.K1346R,;ANNO=splicing:MYO15A
17	18039138	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:MYO15A:NM_016239:exon12:c.C4596A:p.T1532T,;ANNO=synonymous:MYO15A:NM_016239:exon12:c.C4596T:p.T1532T,;ANNO=splicing:MYO15A;ANNO=splicing:MYO15A
17	18047111	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYO15A(NM_016239:c.6046+1G>A)
17	18057446	.	T	C	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYO15A:NM_016239:exon43:c.T8090C:p.V2697A,;ANNO=splicing:MYO15A
17	18058538	.	C	T	100	PASS	AC=34;STUDIES=5;MAC=34;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYO15A:NM_016239:exon45:c.C8339T:p.T2780M,;ANNO=splicing:MYO15A
17	18137328	.	G	A	100	PASS	AC=123;STUDIES=9;MAC=123;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LLGL1:NM_004140:exon6:c.G553A:p.V185M,;ANNO=splicing:LLGL1
17	18155870	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FLII:NM_002018:exon10:c.G1014A:p.R338R,;ANNO=splicing:FLII
17	18164475	.	G	A	100	PASS	AC=100;STUDIES=6;MAC=100;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SMCR7:NM_148886:exon1:c.G26A:p.R9K,;ANNO=splicing:SMCR7
17	18284834	.	G	T	100	PASS	AC=100;STUDIES=5;MAC=100;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:EVPLL:NM_001145127:exon3:c.G217T:p.D73Y,;ANNO=splicing:EVPLL
17	18541626	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:TBC1D28:NM_001039397:exon8:c.G387A:p.K129K,;ANNO=splicing:TBC1D28
17	18542015	.	C	G	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:TBC1D28(NM_001039397:c.198-1G>C)
17	18631071	.	G	C	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:TRIM16L:NM_001037330:exon2:c.G201C:p.E67D,;ANNO=splicing:TRIM16L
17	18634549	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:TRIM16L(NM_001037330:c.367+1G>A)
17	18635446	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:TRIM16L:NM_001037330:exon4:c.A462G:p.Q154Q,;ANNO=splicing:TRIM16L
17	18659467	.	C	G	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:FBXW10:NM_031456:exon6:c.C1232G:p.T411R,;ANNO=splicing:FBXW10
17	18707451	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM18B1:NM_016078:exon6:c.G463T:p.A155S,;ANNO=splicing:FAM18B1
17	18862551	.	A	T	100	PASS	AC=59;STUDIES=13;MAC=59;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC5A10:NM_152351:exon3:c.A287T:p.N96I,SLC5A10:NM_001042450:exon3:c.A287T:p.N96I,;ANNO=splicing:SLC5A10
17	18863964	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC5A10:NM_152351:exon5:c.C452T:p.S151L,SLC5A10:NM_001042450:exon5:c.C452T:p.S151L,;ANNO=splicing:SLC5A10
17	18863967	.	T	C	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC5A10(NM_001042450:c.453+2T>C,NM_152351:c.453+2T>C)
17	18875062	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM83G(NM_001039999:c.2082-1G>A)
17	18923027	.	G	A	100	PASS	AC=88;STUDIES=13;MAC=88;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC5A10:NM_152351:exon13:c.G1460A:p.G487E,SLC5A10:NM_001042450:exon13:c.G1412A:p.G471E,;ANNO=splicing:SLC5A10
17	19235167	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EPN2:NM_014964:exon10:c.C1413T:p.A471A,EPN2:NM_148921:exon9:c.C1242T:p.A414A,EPN2:NM_001102664:exon7:c.C558T:p.A186A,;ANNO=splicing:EPN2
17	19251095	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:B9D1(NM_015681:c.341+2T>C)
17	19282210	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:MAPK7
17	19459308	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC47A1:NM_018242:exon10:c.G854T:p.G285V,;ANNO=splicing:SLC47A1
17	19616017	.	G	A	100	PASS	AC=69;STUDIES=7;MAC=69;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC47A2:NM_001099646:exon5:c.C485T:p.P162L,SLC47A2:NM_152908:exon5:c.C485T:p.P162L,;ANNO=splicing:SLC47A2
17	19643789	.	T	G	100	PASS	AC=112;STUDIES=19;MAC=112;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALDH3A1:NM_001135168:exon6:c.A809C:p.E270A,ALDH3A1:NM_000691:exon7:c.A809C:p.E270A,ALDH3A1:NM_001135167:exon7:c.A809C:p.E270A,;ANNO=splicing:ALDH3A1
17	19645944	.	C	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ALDH3A1(NM_000691:c.394-1G>C,NM_001135168:c.394-1G>C,NM_001135167:c.394-1G>C)
17	19685380	.	G	A	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ULK2:NM_001142610:exon23:c.C2461T:p.R821W,ULK2:NM_014683:exon23:c.C2461T:p.R821W,;ANNO=splicing:ULK2
17	20150533	.	T	G	100	PASS	AC=26;STUDIES=3;MAC=26;MAF=0.056;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SPECC1:NM_001033555:exon7:c.T2256G:p.G752G,SPECC1:NM_001033553:exon9:c.T2499G:p.G833G,;ANNO=splicing:SPECC1
17	20769862	.	T	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:CCDC144NL:NM_001004306:exon3:c.A570T:p.G190G,;ANNO=splicing:CCDC144NL
17	21102152	.	C	A	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMEM11:NM_003876:exon2:c.G64T:p.V22L,;ANNO=splicing:TMEM11
17	21201791	.	C	T	100	PASS	AC=29;STUDIES=5;MAC=29;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:MAP2K3:NM_002756:exon2:c.C29G:p.T10R,MAP2K3:NM_145109:exon2:c.C116G:p.T39R,;ANNO=nonsynonymous:MAP2K3:NM_002756:exon2:c.C29T:p.T10I,MAP2K3:NM_145109:exon2:c.C116T:p.T39I,;ANNO=splicing:MAP2K3;ANNO=splicing:MAP2K3
17	25630394	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:WSB1:NM_015626:exon3:c.C211G:p.L71V,;ANNO=splicing:WSB1
17	25919448	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KSR1:NM_014238:exon8:c.C781T:p.L261L,;ANNO=splicing:KSR1
17	25974295	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:LGALS9(NM_002308:c.662-1G>A,NM_009587:c.758-1G>A)
17	26687869	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMEM199:NM_152464:exon5:c.C530T:p.S177L,;ANNO=splicing:TMEM199
17	26688179	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM199:NM_152464:exon6:c.C532T:p.R178W,;ANNO=splicing:TMEM199
17	26692142	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SEBOX(NM_001080837:c.109+1G>A)
17	26817608	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC13A2:NM_001145976:exon2:c.C239T:p.P80L,SLC13A2:NM_001145975:exon3:c.C515T:p.P172L,SLC13A2:NM_003984:exon3:c.C368T:p.P123L,;ANNO=splicing:SLC13A2
17	26818635	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC13A2:NM_001145976:exon4:c.C626T:p.S209L,SLC13A2:NM_001145975:exon5:c.C902T:p.S301L,SLC13A2:NM_003984:exon5:c.C755T:p.S252L,;ANNO=splicing:SLC13A2
17	26818636	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC13A2(NM_003984:c.755+1G>A,NM_001145976:c.626+1G>A,NM_001145975:c.902+1G>A)
17	26822833	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC13A2:NM_001145976:exon9:c.T1340C:p.M447T,SLC13A2:NM_001145975:exon10:c.T1616C:p.M539T,SLC13A2:NM_003984:exon10:c.T1469C:p.M490T,;ANNO=splicing:SLC13A2
17	26857768	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FOXN1:NM_003593:exon5:c.A832G:p.I278V,;ANNO=splicing:FOXN1
17	26883184	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PIGS:NM_033198:exon10:c.G1181A:p.R394Q,;ANNO=splicing:PIGS
17	26918889	.	G	A	100	PASS	AC=22;STUDIES=7;MAC=22;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPAG5:NM_006461:exon4:c.C1264T:p.R422W,;ANNO=splicing:SPAG5
17	26939062	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SGK494:NM_001174103:exon7:c.G693A:p.K231K,;ANNO=splicing:SGK494
17	26940279	.	C	T	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SGK494(NM_001174103:c.408+1G>A)
17	27028457	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SUPT6H:NM_003170:exon37:c.G4995A:p.K1665K,;ANNO=splicing:SUPT6H
17	27042139	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RAB34:NM_001144942:exon8:c.C491T:p.T164I,RAB34:NM_001142625:exon9:c.C689T:p.T230I,RAB34:NM_031934:exon8:c.C515T:p.T172I,RAB34:NM_001144943:exon9:c.C686T:p.T229I,RAB34:NM_001142624:exon9:c.C662T:p.T221I,;ANNO=splicing:RAB34
17	27053775	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TLCD1:NM_001160407:exon1:c.A52C:p.S18R,;ANNO=splicing:TLCD1
17	27068589	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NEK8:NM_178170:exon14:c.T2050C:p.S684P,;ANNO=splicing:NEK8
17	27068978	.	G	A	100	PASS	AC=59;STUDIES=7;MAC=59;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NEK8:NM_178170:exon15:c.G2052A:p.S684S,;ANNO=splicing:NEK8
17	27210248	.	A	C	100	PASS	AC=42;STUDIES=4;MAC=42;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:FLOT2:NM_004475:exon4:c.T224G:p.V75G,;ANNO=splicing:FLOT2
17	27224799	.	T	C	100	PASS	AC=282;STUDIES=2;MAC=282;MAF=0.167;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:DHRS13
17	27228318	.	A	G	100	PASS	AC=28;STUDIES=5;MAC=28;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DHRS13:NM_144683:exon4:c.T372C:p.G124G,;ANNO=splicing:DHRS13
17	27228511	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DHRS13:NM_144683:exon3:c.G370A:p.G124S,;ANNO=splicing:DHRS13
17	27284366	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SEZ6:NM_001098635:exon12:c.C2494T:p.L832L,SEZ6:NM_178860:exon12:c.C2494T:p.L832L,;ANNO=splicing:SEZ6
17	27421108	.	C	T	100	PASS	AC=23;STUDIES=9;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYO18A:NM_203318:exon31:c.G4711A:p.A1571T,MYO18A:NM_078471:exon31:c.G4711A:p.A1571T,;ANNO=splicing:MYO18A
17	27614733	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NUFIP2:NM_020772:exon2:c.C279T:p.G93G,;ANNO=splicing:NUFIP2
17	27857637	.	C	G	100	PASS	AC=20;STUDIES=5;MAC=20;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TAOK1:NM_020791:exon18:c.C2361G:p.A787A,TAOK1:NM_025142:exon16:c.C1917G:p.A639A,;ANNO=splicing:TAOK1
17	27908761	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GIT1:NM_014030:exon6:c.G717T:p.P239P,GIT1:NM_001085454:exon6:c.G717T:p.P239P,;ANNO=splicing:GIT1
17	28268857	.	G	A	100	PASS	AC=89;STUDIES=9;MAC=89;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EFCAB5(NM_198529:c.42+1G>A)
17	28295809	.	A	G	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EFCAB5:NM_001145053:exon4:c.A23G:p.E8G,EFCAB5:NM_198529:exon4:c.A191G:p.E64G,;ANNO=splicing:EFCAB5
17	28382984	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EFCAB5(NM_001145053:c.2104+1G>T,NM_198529:c.2272+1G>T)
17	28443834	.	G	A	100	PASS	AC=388;STUDIES=6;MAC=388;MAF=0.041;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:NSRP1
17	28525548	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC6A4:NM_001045:exon15:c.C1819T:p.R607C,;ANNO=splicing:SLC6A4
17	28538330	.	C	T	100	PASS	AC=266;STUDIES=12;MAC=266;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC6A4:NM_001045:exon10:c.G1317A:p.T439T,;ANNO=splicing:SLC6A4
17	28783275	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CPD:NM_001199775:exon16:c.G2598A:p.V866V,CPD:NM_001304:exon16:c.G3339A:p.V1113V,;ANNO=splicing:CPD
17	28887134	.	G	A	100	PASS	AC=1217;STUDIES=18;MAC=1217;MAF=0.059;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:TBC1D29(NM_015594:c.12-1G>A)
17	28887635	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:TBC1D29:NM_015594:exon3:c.A79G:p.I27V,;ANNO=splicing:TBC1D29
17	29112938	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CRLF3:NM_015986:exon7:c.T1071C:p.N357N,;ANNO=splicing:CRLF3
17	29250089	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ADAP2(NM_018404:c.225+1G>A)
17	29314963	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RNF135:NM_001184992:exon3:c.C518G:p.A173G,RNF135:NM_032322:exon3:c.C518G:p.A173G,;ANNO=splicing:RNF135
17	29508805	.	T	G	100	PASS	AC=21;STUDIES=2;MAC=21;MAF=0.044;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NF1(NM_001042492:c.730+2T>G,NM_000267:c.730+2T>G,NM_001128147:c.730+2T>G)
17	29560021	.	C	T	100	PASS	AC=54;STUDIES=8;MAC=54;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NF1:NM_000267:exon27:c.C3498T:p.G1166G,NF1:NM_001042492:exon27:c.C3498T:p.G1166G,;ANNO=splicing:NF1
17	29854861	.	G	T	100	PASS	AC=22;STUDIES=8;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RAB11FIP4:NM_032932:exon11:c.G1276T:p.V426L,;ANNO=splicing:RAB11FIP4
17	30183819	.	T	G	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:C17orf79:NM_018405:exon2:c.A165C:p.L55L,;ANNO=splicing:C17orf79
17	30214331	.	T	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:UTP6:NM_018428:exon8:c.A545T:p.Y182F,;ANNO=splicing:UTP6
17	30219279	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UTP6:NM_018428:exon6:c.G424T:p.A142S,;ANNO=splicing:UTP6
17	30796210	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PSMD11:NM_002815:exon6:c.G642A:p.S214S,;ANNO=splicing:PSMD11
17	30807649	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PSMD11:NM_002815:exon13:c.G1269A:p.X423X,;ANNO=splicing:PSMD11
17	31039007	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO1D:NM_015194:exon16:c.A2120G:p.K707R,;ANNO=splicing:MYO1D
17	31322427	.	G	A	100	PASS	AC=262;STUDIES=19;MAC=262;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPACA3:NM_173847:exon2:c.G35A:p.R12K,;ANNO=splicing:SPACA3
17	31350878	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACCN1(NM_183377:c.1349+1G>A,NM_001094:c.1196+1G>A)
17	32482997	.	T	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ACCN1:NM_001094:exon1:c.A555G:p.T185T,;ANNO=splicing:ACCN1
17	32684609	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCL13(NM_005408:c.191+1G>A)
17	32688804	.	A	C	100	PASS	AC=28;STUDIES=3;MAC=28;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCL1:NM_002981:exon2:c.T188G:p.I63R,;ANNO=splicing:CCL1
17	33269927	.	T	C	100	PASS	AC=76;STUDIES=10;MAC=76;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCT6B(NM_001193530:c.479-2A>G,NM_006584:c.614-2A>G)
17	33430474	.	T	C	100	PASS	AC=22;STUDIES=4;MAC=22;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RAD51D:NM_002878:exon7:c.A666G:p.E222E,RAD51D:NM_001142571:exon7:c.A726G:p.E242E,RAD51D:NM_133629:exon4:c.A330G:p.E110E,;ANNO=splicing:RAD51D
17	33443879	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RAD51D:NM_001142571:exon3:c.C322T:p.R108C,;ANNO=splicing:RAD51D
17	33445637	.	G	A	100	PASS	AC=19;STUDIES=3;MAC=19;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RAD51D:NM_002878:exon3:c.C146T:p.A49V,;ANNO=splicing:RAD51D
17	33456679	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FNDC8(NM_017559:c.822+2T>C)
17	33460516	.	A	G	100	PASS	AC=202;STUDIES=8;MAC=202;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NLE1:NM_001014445:exon10:c.T340C:p.Y114H,NLE1:NM_018096:exon11:c.T1216C:p.Y406H,;ANNO=splicing:NLE1
17	33464020	.	G	A	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NLE1:NM_018096:exon7:c.C828T:p.D276D,;ANNO=splicing:NLE1
17	33466868	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NLE1:NM_018096:exon3:c.A380G:p.K127R,;ANNO=splicing:NLE1
17	33475281	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:UNC45B
17	33477242	.	G	A	100	PASS	AC=1668;STUDIES=21;MAC=1668;MAF=0.071;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UNC45B:NM_173167:exon4:c.G381A:p.K127K,UNC45B:NM_001033576:exon4:c.G381A:p.K127K,;ANNO=splicing:UNC45B
17	33495379	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UNC45B:NM_173167:exon10:c.T1451C:p.V484A,UNC45B:NM_001033576:exon10:c.T1451C:p.V484A,;ANNO=splicing:UNC45B
17	33504148	.	G	A	100	PASS	AC=116;STUDIES=17;MAC=116;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UNC45B:NM_173167:exon16:c.G2144A:p.R715Q,UNC45B:NM_001033576:exon16:c.G2138A:p.R713Q,;ANNO=splicing:UNC45B
17	33504629	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UNC45B:NM_173167:exon17:c.G2261A:p.R754Q,UNC45B:NM_001033576:exon17:c.G2255A:p.R752Q,;ANNO=splicing:UNC45B
17	33772713	.	C	A	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLFN13
17	33814758	.	T	C	100	PASS	AC=239;STUDIES=3;MAC=239;MAF=0.116;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLFN12L:NM_001195790:exon1:c.A1G:p.M1V,;ANNO=splicing:SLFN12L
17	33903202	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PEX12(NM_000286:c.680-2A>C)
17	34106078	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MMP28:NM_001032278:exon3:c.G193A:p.A65T,MMP28:NM_024302:exon3:c.G193A:p.A65T,;ANNO=splicing:MMP28
17	34106326	.	G	A	100	PASS	AC=19;STUDIES=10;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MMP28:NM_001032278:exon2:c.C113T:p.A38V,MMP28:NM_024302:exon2:c.C113T:p.A38V,;ANNO=splicing:MMP28
17	34171162	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TAF15:NM_139215:exon13:c.C1088T:p.P363L,TAF15:NM_003487:exon13:c.C1079T:p.P360L,;ANNO=splicing:TAF15
17	34257637	.	T	C	100	PASS	AC=613;STUDIES=22;MAC=613;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:RDM1:NM_145654:exon1:c.A95G:p.H32R,RDM1:NM_001034836:exon1:c.A95G:p.H32R,RDM1:NM_001163121:exon1:c.A95G:p.H32R,RDM1:NM_001163120:exon1:c.A95G:p.H32R,;ANNO=splicing:RDM1
17	34264761	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LYZL6(NM_020426:c.298+1G>A,NM_001199951:c.298+1G>A)
17	34340347	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCL23:NM_145898:exon4:c.T253C:p.F85L,CCL23:NM_005064:exon4:c.T304C:p.F102L,;ANNO=splicing:CCL23
17	34431374	.	A	G	100	PASS	AC=73;STUDIES=4;MAC=73;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:CCL4:NM_002984:exon1:c.A76G:p.M26V,;ANNO=splicing:CCL4
17	34431375	.	G	A	100	PASS	AC=72;STUDIES=4;MAC=72;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:CCL4(NM_002984:c.76+1G>A)
17	34861135	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYO19(NM_001163735:c.1905+1G>A)
17	34866586	.	G	A	100	PASS	AC=23;STUDIES=5;MAC=23;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYO19:NM_001163735:exon14:c.C1156T:p.R386W,MYO19:NM_025109:exon14:c.C1156T:p.R386W,;ANNO=splicing:MYO19
17	34869473	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO19:NM_001163735:exon11:c.A816C:p.E272D,MYO19:NM_001033580:exon11:c.A816C:p.E272D,MYO19:NM_025109:exon11:c.A816C:p.E272D,;ANNO=splicing:MYO19
17	34912924	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GGNBP2:NM_024835:exon4:c.G176A:p.R59Q,;ANNO=splicing:GGNBP2
17	34916613	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GGNBP2:NM_024835:exon5:c.G429A:p.G143G,;ANNO=splicing:GGNBP2
17	34954592	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DHRS11:NM_024308:exon3:c.G358A:p.V120M,;ANNO=splicing:DHRS11
17	35295663	.	C	A	100	PASS	AC=167;STUDIES=8;MAC=167;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LHX1:NM_005568:exon1:c.C169A:p.R57R,;ANNO=splicing:LHX1
17	35310186	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AATF:NM_012138:exon3:c.A284G:p.D95G,;ANNO=splicing:AATF
17	35378312	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AATF:NM_012138:exon10:c.C1546T:p.R516W,;ANNO=splicing:AATF
17	35454919	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACACA:NM_198834:exon53:c.G6566A:p.G2189E,ACACA:NM_198838:exon52:c.G6221A:p.G2074E,ACACA:NM_198839:exon57:c.G6455A:p.G2152E,ACACA:NM_198836:exon53:c.G6455A:p.G2152E,ACACA:NM_198837:exon51:c.G6281A:p.G2094E,;ANNO=splicing:ACACA
17	35478412	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACACA:NM_198834:exon50:c.A6139G:p.I2047V,ACACA:NM_198838:exon49:c.A5794G:p.I1932V,ACACA:NM_198839:exon54:c.A6028G:p.I2010V,ACACA:NM_198836:exon50:c.A6028G:p.I2010V,ACACA:NM_198837:exon48:c.A5854G:p.I1952V,;ANNO=splicing:ACACA
17	35956391	.	G	C	100	PASS	AC=4526;STUDIES=22;MAC=4526;MAF=0.187;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYNRG:NM_007247:exon3:c.C119G:p.A40G,SYNRG:NM_001163544:exon3:c.C119G:p.A40G,SYNRG:NM_198882:exon3:c.C119G:p.A40G,SYNRG:NM_001163547:exon3:c.C119G:p.A40G,SYNRG:NM_001163546:exon3:c.C119G:p.A40G,SYNRG:NM_080550:exon3:c.C119G:p.A40G,;ANNO=splicing:SYNRG
17	35993317	.	C	T	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DDX52(NM_007010:c.417+1G>A)
17	36462597	.	A	G	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:MRPL45:NM_032351:exon4:c.A460G:p.N154D,;ANNO=splicing:MRPL45
17	36891853	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PCGF2:NM_007144:exon11:c.A658T:p.N220Y,;ANNO=splicing:PCGF2
17	36963229	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;TRIALLELIC;ANNO=nonsynonymous:CWC25:NM_017748:exon7:c.G691T:p.V231F,;ANNO=nonsynonymous:CWC25:NM_017748:exon7:c.G691A:p.V231I,;ANNO=splicing:CWC25;ANNO=splicing:CWC25
17	37054772	.	C	T	100	PASS	AC=5566;STUDIES=17;MAC=5566;MAF=0.334;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=7;ANNO=synonymous:LASP1:NM_006148:exon4:c.C357T:p.N119N,;ANNO=splicing:LASP1
17	37224211	.	C	T	100	PASS	AC=1732;STUDIES=22;MAC=1732;MAF=0.071;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLXDC1:NM_020405:exon14:c.G1385A:p.R462H,;ANNO=splicing:PLXDC1
17	37334238	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:CACNB1:NM_000723:exon12:c.C1145T:p.P382L,CACNB1:NM_199248:exon12:c.C1145T:p.P382L,CACNB1:NM_199247:exon12:c.C1280T:p.P427L,;ANNO=splicing:CACNB1
17	37627130	.	A	G	100	PASS	AC=10;STUDIES=9;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDK12(NM_015083:c.1046-2A>G,NM_016507:c.1046-2A>G)
17	37676209	.	C	T	100	PASS	AC=28;STUDIES=6;MAC=28;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CDK12:NM_016507:exon11:c.C2964T:p.F988F,CDK12:NM_015083:exon11:c.C2964T:p.F988F,;ANNO=splicing:CDK12
17	37813262	.	C	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STARD3:NM_001165938:exon3:c.C221G:p.T74S,STARD3:NM_006804:exon3:c.C221G:p.T74S,STARD3:NM_001165937:exon3:c.C221G:p.T74S,;ANNO=splicing:STARD3
17	37813338	.	T	C	100	PASS	AC=1271;STUDIES=21;MAC=1271;MAF=0.054;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:STARD3:NM_001165938:exon3:c.T297C:p.F99F,STARD3:NM_006804:exon3:c.T297C:p.F99F,STARD3:NM_001165937:exon3:c.T297C:p.F99F,;ANNO=splicing:STARD3
17	37815304	.	G	C	100	PASS	AC=458;STUDIES=21;MAC=458;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STARD3:NM_001165938:exon7:c.G593C:p.G198A,STARD3:NM_006804:exon8:c.G647C:p.G216A,STARD3:NM_001165937:exon8:c.G647C:p.G216A,;ANNO=splicing:STARD3
17	37815305	.	G	A	100	PASS	AC=19;STUDIES=7;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=synonymous:STARD3:NM_001165938:exon7:c.G594A:p.G198G,STARD3:NM_006804:exon8:c.G648A:p.G216G,STARD3:NM_001165937:exon8:c.G648A:p.G216G,;ANNO=splicing:STARD3
17	37873733	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ERBB2:NM_001005862:exon18:c.C1808T:p.S603F,ERBB2:NM_004448:exon15:c.C1898T:p.S633F,;ANNO=splicing:ERBB2
17	38064469	.	T	C	100	PASS	AC=2532;STUDIES=6;MAC=2532;MAF=0.404;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GSDMB(NM_001165959:c.661-2A>G,NM_001165958:c.661-2A>G)
17	38176038	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MED24:NM_001079518:exon24:c.C2814T:p.T938T,MED24:NM_014815:exon25:c.C2853T:p.T951T,;ANNO=splicing:MED24
17	38178208	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MED24:NM_001079518:exon22:c.A2584G:p.T862A,MED24:NM_014815:exon23:c.A2623G:p.T875A,;ANNO=splicing:MED24
17	38253655	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NR1D1:NM_021724:exon2:c.T33C:p.G11G,;ANNO=splicing:NR1D1
17	38555188	.	A	G	100	PASS	AC=72;STUDIES=16;MAC=72;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TOP2A:NM_001067:exon26:c.T3290C:p.V1097A,;ANNO=splicing:TOP2A
17	38636953	.	C	G	100	PASS	AC=17;STUDIES=6;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:TNS4:NM_032865:exon9:c.G1740C:p.A580A,;ANNO=splicing:TNS4
17	38935880	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:KRT27(NM_181537:c.846-1G>A)
17	38974733	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KRT10:NM_000421:exon8:c.T1750C:p.Y584H,;ANNO=splicing:KRT10
17	39036190	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KRT20:NM_019010:exon5:c.A793G:p.T265A,;ANNO=splicing:KRT20
17	39084491	.	G	A	100	PASS	AC=79;STUDIES=9;MAC=79;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KRT23:NM_015515:exon6:c.C920T:p.T307M,;ANNO=splicing:KRT23
17	39120036	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KRT39(NM_213656:c.551-1G>T)
17	39346139	.	A	G	100	PASS	AC=480;STUDIES=5;MAC=480;MAF=0.171;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:KRTAP9-1:NM_001190460:exon1:c.A1G:p.M1V,;ANNO=splicing:KRTAP9-1
17	39551099	.	C	T	100	PASS	AC=452;STUDIES=18;MAC=452;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:KRT31(NM_002277:c.1097+1G>A)
17	39580285	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KRT37:NM_003770:exon1:c.A491G:p.K164R,;ANNO=splicing:KRT37
17	39671724	.	T	C	100	PASS	AC=4946;STUDIES=22;MAC=4946;MAF=0.205;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KRT15:NM_002275:exon6:c.A1247G:p.K416R,;ANNO=splicing:KRT15
17	39680396	.	A	C	100	PASS	AC=22;STUDIES=12;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KRT19:NM_002276:exon5:c.T947G:p.M316R,;ANNO=splicing:KRT19
17	39778762	.	A	C	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:KRT17:NM_000422:exon3:c.T517G:p.F173V,;ANNO=splicing:KRT17
17	39884583	.	G	A	100	PASS	AC=17933;STUDIES=22;MAC=5801;MAF=0.244;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HAP1:NM_001079871:exon7:c.C1070T:p.S357L,HAP1:NM_177977:exon7:c.C1070T:p.S357L,HAP1:NM_001079870:exon7:c.C1094T:p.S365L,;ANNO=splicing:HAP1
17	39888372	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HAP1(NM_001079871:c.714-2A>G,NM_001079870:c.738-2A>G,NM_177977:c.714-2A>G)
17	39888946	.	C	A	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HAP1(NM_001079870:c.573+1G>T)
17	39965958	.	A	G	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LEPREL4:NM_006455:exon4:c.T916C:p.L306L,;ANNO=splicing:LEPREL4
17	39976713	.	C	T	100	PASS	AC=33;STUDIES=10;MAC=33;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FKBP10:NM_021939:exon7:c.C1256T:p.S419L,;ANNO=splicing:FKBP10
17	40173564	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NKIRAS2
17	40262742	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DHX58:NM_024119:exon5:c.A560G:p.Q187R,;ANNO=splicing:DHX58
17	40263515	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DHX58:NM_024119:exon4:c.G169A:p.V57M,;ANNO=splicing:DHX58
17	40318316	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KCNH4:NM_012285:exon10:c.G1839A:p.L613L,;ANNO=splicing:KCNH4
17	40322126	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KCNH4:NM_012285:exon8:c.C1389T:p.G463G,;ANNO=splicing:KCNH4
17	40651060	.	T	C	100	PASS	AC=52;STUDIES=14;MAC=52;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATP6V0A1:NM_001130021:exon15:c.T1679C:p.I560T,ATP6V0A1:NM_001130020:exon15:c.T1700C:p.I567T,ATP6V0A1:NM_005177:exon15:c.T1679C:p.I560T,;ANNO=splicing:ATP6V0A1
17	40716594	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COASY:NM_001042529:exon4:c.A1046G:p.Y349C,COASY:NM_001042531:exon4:c.A161G:p.Y54C,COASY:NM_025233:exon3:c.A1046G:p.Y349C,COASY:NM_001042532:exon5:c.A1133G:p.Y378C,COASY:NM_001042530:exon4:c.A1046G:p.Y349C,;ANNO=splicing:COASY
17	40717487	.	A	G	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COASY(NM_001042531:c.502-2A>G,NM_001042530:c.1387-2A>G,NM_001042532:c.1474-2A>G,NM_025233:c.1387-2A>G,NM_001042529:c.1387-2A>G)
17	40725043	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PSMC3IP(NM_016556:c.597-1G>A,NM_013290:c.561-1G>A)
17	40849573	.	G	A	100	PASS	AC=134;STUDIES=11;MAC=134;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CNTNAP1:NM_003632:exon22:c.G3570A:p.E1190E,;ANNO=splicing:CNTNAP1
17	40950185	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC56:NM_001040431:exon2:c.A215G:p.Y72C,;ANNO=splicing:CCDC56
17	40970432	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BECN1:NM_003766:exon7:c.C490T:p.R164C,;ANNO=splicing:BECN1
17	41059645	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:G6PC:NM_000151:exon3:c.G446A:p.R149Q,;ANNO=splicing:G6PC
17	41102746	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AARSD1(NM_001136042:c.1625-1G>T,NM_025267:c.1442-1G>T)
17	41105741	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:AARSD1:NM_025267:exon15:c.G1347C:p.E449D,AARSD1:NM_001136042:exon15:c.G1530C:p.E510D,;ANNO=splicing:AARSD1
17	41106983	.	T	C	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AARSD1:NM_025267:exon14:c.A1202G:p.N401S,AARSD1:NM_001136042:exon14:c.A1385G:p.N462S,;ANNO=splicing:AARSD1
17	41107241	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AARSD1:NM_025267:exon13:c.G1134A:p.K378K,AARSD1:NM_001136042:exon13:c.G1317A:p.K439K,;ANNO=splicing:AARSD1
17	41158985	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IFI35:NM_005533:exon1:c.C21T:p.A7A,;ANNO=splicing:IFI35
17	41165493	.	A	G	100	PASS	AC=22864;STUDIES=21;MAC=324;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IFI35:NM_005533:exon5:c.A382G:p.M128V,;ANNO=splicing:IFI35
17	41247941	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BRCA1(NM_007298:c.593-2A>C,NM_007299:c.593-2A>C,NM_007297:c.452-2A>C,NM_007300:c.593-2A>C,NM_007294:c.593-2A>C)
17	41258551	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BRCA1(NM_007298:c.134-1G>T,NM_007299:c.134-1G>T,NM_007300:c.134-1G>T,NM_007294:c.134-1G>T)
17	41582013	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DHX8:NM_004941:exon12:c.G1548A:p.A516A,;ANNO=splicing:DHX8
17	41905120	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MPP3:NM_001932:exon8:c.C522T:p.S174S,;ANNO=splicing:MPP3
17	41931326	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CD300LG:NM_001168323:exon3:c.A531G:p.A177A,CD300LG:NM_001168322:exon4:c.A633G:p.A211A,CD300LG:NM_145273:exon4:c.A633G:p.A211A,;ANNO=splicing:CD300LG(NM_001168324:c.379-2A>G)
17	41956770	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MPP2:NM_005374:exon12:c.C1355T:p.A452V,;ANNO=splicing:MPP2
17	42169068	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HDAC5:NM_001015053:exon10:c.T1167G:p.T389T,HDAC5:NM_005474:exon10:c.T1164G:p.T388T,;ANNO=splicing:HDAC5
17	42171202	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=nonsynonymous:HDAC5:NM_001015053:exon4:c.T98G:p.V33G,HDAC5:NM_005474:exon4:c.T95G:p.V32G,;ANNO=splicing:HDAC5
17	42398802	.	G	A	100	PASS	AC=1422;STUDIES=20;MAC=1422;MAF=0.066;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:SLC25A39:NM_016016:exon7:c.C493T:p.L165L,SLC25A39:NM_001143780:exon7:c.C517T:p.L173L,;ANNO=splicing:SLC25A39
17	42453084	.	C	T	100	PASS	AC=37;STUDIES=10;MAC=37;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITGA2B:NM_000419:exon26:c.G2602A:p.V868M,;ANNO=splicing:ITGA2B
17	42456012	.	C	A	100	PASS	AC=52;STUDIES=6;MAC=52;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITGA2B:NM_000419:exon19:c.G1945T:p.V649L,;ANNO=splicing:ITGA2B
17	42461907	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ITGA2B:NM_000419:exon8:c.A846C:p.T282T,;ANNO=splicing:ITGA2B
17	42462576	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ITGA2B:NM_000419:exon6:c.C626T:p.A209V,;ANNO=splicing:ITGA2B
17	42757953	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC43:NM_144609:exon4:c.C487T:p.L163F,;ANNO=splicing:CCDC43
17	42786208	.	G	T	100	PASS	AC=630;STUDIES=12;MAC=630;MAF=0.039;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:DBF4B(NM_145663:c.19+1G>T,NM_025104:c.19+1G>T)
17	42807464	.	G	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DBF4B:NM_025104:exon4:c.G417A:p.S139S,DBF4B:NM_145663:exon4:c.G417A:p.S139S,;ANNO=splicing:DBF4B
17	42979019	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC103:NM_213607:exon3:c.C275T:p.P92L,;ANNO=splicing:CCDC103
17	43008970	.	T	C	100	PASS	AC=1208;STUDIES=20;MAC=1208;MAF=0.055;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIF18B:NM_001080443:exon11:c.A1553G:p.Q518R,;ANNO=splicing:KIF18B
17	43212963	.	G	T	100	PASS	AC=812;STUDIES=2;MAC=812;MAF=0.412;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=splicing:ACBD4
17	43311439	.	G	A	100	PASS	AC=19;STUDIES=10;MAC=19;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FMNL1:NM_005892:exon6:c.G486A:p.T162T,;ANNO=splicing:FMNL1
17	43313504	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FMNL1:NM_005892:exon7:c.C616T:p.L206L,;ANNO=splicing:FMNL1
17	43515335	.	C	T	100	PASS	AC=68;STUDIES=6;MAC=68;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:PLEKHM1:NM_014798:exon12:c.G3060A:p.R1020R,;ANNO=splicing:PLEKHM1
17	44071291	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=synonymous:MAPT:NM_001123066:exon10:c.G1509A:p.A503A,;ANNO=splicing:MAPT
17	44115904	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KIAA1267:NM_015443:exon10:c.G2541A:p.S847S,KIAA1267:NM_001193465:exon11:c.G2541A:p.S847S,KIAA1267:NM_001193466:exon10:c.G2541A:p.S847S,;ANNO=splicing:KIAA1267
17	44144097	.	G	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1267:NM_015443:exon6:c.C1654A:p.L552I,KIAA1267:NM_001193465:exon7:c.C1654A:p.L552I,KIAA1267:NM_001193466:exon6:c.C1654A:p.L552I,;ANNO=splicing:KIAA1267
17	44633014	.	G	A	100	PASS	AC=204;STUDIES=2;MAC=204;MAF=0.129;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=splicing:LRRC37A2
17	45009566	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:GOSR2(NM_004287:c.336+1G>A,NM_054022:c.336+1G>A,NM_001012511:c.336+1G>A)
17	45017921	.	G	C	100	PASS	AC=17;STUDIES=8;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GOSR2:NM_054022:exon7:c.G584C:p.G195A,;ANNO=splicing:GOSR2
17	45214726	.	C	G	100	PASS	AC=27;STUDIES=2;MAC=27;MAF=0.041;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:CDC27:NM_001114091:exon14:c.G1723C:p.A575P,CDC27:NM_001256:exon14:c.G1705C:p.A569P,;ANNO=splicing:CDC27
17	45234597	.	A	G	100	PASS	AC=48;STUDIES=3;MAC=48;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CDC27:NM_001114091:exon6:c.T629C:p.I210T,CDC27:NM_001256:exon6:c.T629C:p.I210T,;ANNO=splicing:CDC27
17	45291165	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:MYL4:NM_001002841:exon3:c.A136G:p.I46V,MYL4:NM_002476:exon2:c.A136G:p.I46V,;ANNO=nonsynonymous:MYL4:NM_001002841:exon3:c.A136T:p.I46L,MYL4:NM_002476:exon2:c.A136T:p.I46L,;ANNO=splicing:MYL4;ANNO=splicing:MYL4
17	45368453	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ITGB3:NM_000212:exon9:c.C1259T:p.T420M,;ANNO=splicing:ITGB3
17	45447802	.	G	A	100	PASS	AC=541;STUDIES=17;MAC=541;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C17orf57(NM_152347:c.805-1G>A,NM_001195192:c.517-1G>A)
17	45468804	.	G	A	100	PASS	AC=17;STUDIES=8;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C17orf57:NM_152347:exon15:c.G1584A:p.A528A,C17orf57:NM_001195192:exon13:c.G1296A:p.A432A,;ANNO=splicing:C17orf57
17	45891202	.	T	G	100	PASS	AC=80;STUDIES=2;MAC=80;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:OSBPL7(NM_145798:c.1351-2A>C)
17	45894147	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OSBPL7:NM_145798:exon9:c.G794A:p.R265Q,;ANNO=splicing:OSBPL7
17	45913467	.	C	T	100	PASS	AC=40;STUDIES=7;MAC=40;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRRC46:NM_033413:exon6:c.C451T:p.R151C,;ANNO=splicing:LRRC46
17	45916809	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SCRN2(NM_001145023:c.556+1G>C,NM_138355:c.556+1G>C)
17	45916810	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SCRN2:NM_001145023:exon4:c.G556A:p.E186K,SCRN2:NM_138355:exon4:c.G556A:p.E186K,;ANNO=splicing:SCRN2
17	45918035	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SCRN2(NM_001145023:c.174+1G>C,NM_138355:c.174+1G>C)
17	46052702	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:CDK5RAP3:NM_176096:exon6:c.C512T:p.T171M,;ANNO=splicing:CDK5RAP3
17	46052881	.	G	A	100	PASS	AC=21;STUDIES=7;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:CDK5RAP3:NM_176096:exon7:c.G515A:p.G172D,;ANNO=splicing:CDK5RAP3
17	46057959	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CDK5RAP3:NM_176096:exon12:c.C1078T:p.L360F,;ANNO=splicing:CDK5RAP3
17	46058700	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CDK5RAP3:NM_176096:exon13:c.G1455C:p.L485L,;ANNO=splicing:CDK5RAP3
17	46109523	.	C	G	100	PASS	AC=16;STUDIES=2;MAC=16;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COPZ2:NM_016429:exon6:c.G489C:p.A163A,;ANNO=splicing:COPZ2
17	46865171	.	A	G	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTLL6(NM_173623:c.668+2T>C,NM_001130918:c.1589+2T>C)
17	46926615	.	G	A	100	PASS	AC=3508;STUDIES=21;MAC=3508;MAF=0.155;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:CALCOCO2:NM_005831:exon5:c.G419A:p.G140E,;ANNO=splicing:CALCOCO2
17	47284701	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GNGT2:NM_001198754:exon3:c.G84A:p.P28P,GNGT2:NM_031498:exon3:c.G84A:p.P28P,GNGT2:NM_001198755:exon3:c.G84A:p.P28P,GNGT2:NM_001198756:exon3:c.G84A:p.P28P,;ANNO=splicing:GNGT2
17	47284702	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GNGT2:NM_001198754:exon3:c.C83T:p.P28L,GNGT2:NM_031498:exon3:c.C83T:p.P28L,GNGT2:NM_001198755:exon3:c.C83T:p.P28L,GNGT2:NM_001198756:exon3:c.C83T:p.P28L,;ANNO=splicing:GNGT2
17	47299454	.	C	T	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ABI3:NM_001135186:exon7:c.C786T:p.D262D,ABI3:NM_016428:exon7:c.C804T:p.D268D,;ANNO=splicing:ABI3
17	48047114	.	A	G	100	PASS	AC=52;STUDIES=14;MAC=52;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DLX4:NM_138281:exon1:c.A282G:p.A94A,;ANNO=splicing:DLX4
17	48166472	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITGA3(NM_002204:c.3187-2A>C,NM_005501:c.3045-2A>C)
17	48166475	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITGA3:NM_005501:exon25:c.G3047A:p.C1016Y,;ANNO=splicing:ITGA3
17	48270355	.	G	A	100	PASS	AC=80;STUDIES=8;MAC=80;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL1A1:NM_000088:exon26:c.C1821T:p.V607V,;ANNO=splicing:COL1A1
17	48457671	.	A	G	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EME1(NM_001166131:c.1385-2A>G,NM_152463:c.1346-2A>G)
17	48469863	.	T	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LRRC59:NM_018509:exon4:c.A325T:p.N109Y,;ANNO=splicing:LRRC59
17	48538036	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACSF2(NM_025149:c.128-2A>G)
17	48594813	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYCBPAP:NM_032133:exon3:c.G493A:p.G165S,;ANNO=splicing:MYCBPAP
17	48602384	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MYCBPAP:NM_032133:exon13:c.G1911A:p.P637P,;ANNO=splicing:MYCBPAP
17	48604768	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYCBPAP:NM_032133:exon15:c.T2419C:p.C807R,;ANNO=splicing:MYCBPAP
17	48618826	.	G	A	100	PASS	AC=26;STUDIES=6;MAC=26;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EPN3:NM_017957:exon9:c.G1356A:p.E452E,;ANNO=splicing:EPN3
17	48625643	.	G	C	100	PASS	AC=21;STUDIES=4;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPATA20(NM_022827:c.125-1G>C)
17	48626172	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SPATA20:NM_022827:exon5:c.C363T:p.V121V,;ANNO=splicing:SPATA20
17	48626847	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SPATA20:NM_022827:exon7:c.G861A:p.P287P,;ANNO=splicing:SPATA20
17	48632593	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SPATA20:NM_022827:exon16:c.A2158G:p.I720V,;ANNO=splicing:SPATA20
17	48678412	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CACNA1G:NM_198382:exon18:c.G3723T:p.R1241S,CACNA1G:NM_198388:exon18:c.G3723T:p.R1241S,CACNA1G:NM_198376:exon18:c.G3723T:p.R1241S,CACNA1G:NM_198386:exon19:c.G3792T:p.R1264S,CACNA1G:NM_198377:exon18:c.G3723T:p.R1241S,CACNA1G:NM_198397:exon19:c.G3792T:p.R1264S,CACNA1G:NM_198387:exon18:c.G3723T:p.R1241S,CACNA1G:NM_198385:exon19:c.G3792T:p.R1264S,CACNA1G:NM_198396:exon18:c.G3723T:p.R1241S,CACNA1G:NM_198378:exon19:c.G3792T:p.R1264S,CACNA1G:NM_198384:exon19:c.G3792T:p.R1264S,CACNA1G:NM_198383:exon18:c.G3723T:p.R1241S,CACNA1G:NM_198379:exon18:c.G3723T:p.R1241S,CACNA1G:NM_018896:exon19:c.G3792T:p.R1264S,CACNA1G:NM_198380:exon19:c.G3792T:p.R1264S,;ANNO=splicing:CACNA1G
17	48696368	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CACNA1G:NM_198382:exon32:c.C5711T:p.T1904M,CACNA1G:NM_198388:exon31:c.C5657T:p.T1886M,CACNA1G:NM_198376:exon31:c.C5678T:p.T1893M,CACNA1G:NM_198386:exon32:c.C5726T:p.T1909M,CACNA1G:NM_198377:exon32:c.C5711T:p.T1904M,CACNA1G:NM_198387:exon31:c.C5678T:p.T1893M,CACNA1G:NM_198385:exon33:c.C5780T:p.T1927M,CACNA1G:NM_198396:exon31:c.C5678T:p.T1893M,CACNA1G:NM_198378:exon32:c.C5747T:p.T1916M,CACNA1G:NM_198384:exon33:c.C5780T:p.T1927M,CACNA1G:NM_198383:exon32:c.C5711T:p.T1904M,CACNA1G:NM_198379:exon31:c.C5678T:p.T1893M,CACNA1G:NM_018896:exon33:c.C5780T:p.T1927M,CACNA1G:NM_198380:exon32:c.C5747T:p.T1916M,;ANNO=splicing:CACNA1G
17	48742513	.	G	T	100	PASS	AC=21;STUDIES=8;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCC3(NM_003786:c.1338-1G>T,NM_001144070:c.1338-1G>T)
17	48752837	.	G	A	100	PASS	AC=19;STUDIES=6;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCC3:NM_003786:exon20:c.G2714A:p.R905K,;ANNO=splicing:ABCC3
17	48755304	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCC3:NM_003786:exon24:c.G3578A:p.R1193Q,;ANNO=splicing:ABCC3
17	48760972	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCC3:NM_003786:exon27:c.C3809A:p.A1270E,;ANNO=splicing:ABCC3
17	53014009	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TOM1L1(NM_005486:c.854-1G>A)
17	53016381	.	C	T	100	PASS	AC=78;STUDIES=8;MAC=78;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TOM1L1:NM_005486:exon11:c.C1130T:p.P377L,;ANNO=splicing:TOM1L1
17	53016382	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:TOM1L1(NM_005486:c.1130+1G>A);ANNO=splicing:TOM1L1(NM_005486:c.1130+1G>C)
17	53046176	.	G	T	100	PASS	AC=29;STUDIES=2;MAC=29;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:STXBP4
17	53156097	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:STXBP4(NM_178509:c.1355+1G>A)
17	53844814	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PCTP(NM_021213:c.259+1G>T,NM_001102402:c.43+1G>T)
17	53848546	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PCTP:NM_021213:exon3:c.C339T:p.D113D,PCTP:NM_001102402:exon3:c.C123T:p.D41D,;ANNO=splicing:PCTP
17	54305318	.	T	A	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ANKFN1:NM_153228:exon2:c.T62A:p.I21K,;ANNO=splicing:ANKFN1
17	54305319	.	G	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ANKFN1(NM_153228:c.62+1G>T)
17	54923052	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DGKE:NM_003647:exon4:c.T626C:p.L209P,;ANNO=splicing:DGKE
17	54972964	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TRIM25:NM_005082:exon7:c.C1182T:p.P394P,;ANNO=splicing:TRIM25
17	54973287	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRIM25:NM_005082:exon6:c.C1180T:p.P394S,;ANNO=splicing:TRIM25
17	55065650	.	A	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SCPEP1:NM_021626:exon5:c.A545T:p.K182M,;ANNO=splicing:SCPEP1
17	56272532	.	G	A	100	PASS	AC=59;STUDIES=12;MAC=59;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EPX(NM_000502:c.801+1G>A)
17	56290344	.	T	C	100	PASS	AC=13;STUDIES=8;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MKS1:NM_017777:exon8:c.A857G:p.D286G,MKS1:NM_001165927:exon8:c.A827G:p.D276G,;ANNO=splicing:MKS1
17	56294098	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MKS1(NM_017777:c.190-1G>A,NM_001165927:c.160-1G>A)
17	56326421	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LPO:NM_006151:exon5:c.A326G:p.D109G,LPO:NM_001160102:exon3:c.A77G:p.D26G,;ANNO=splicing:LPO
17	56348226	.	T	G	100	PASS	AC=98;STUDIES=16;MAC=98;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:MPO(NM_000250:c.2030-2A>C)
17	56544340	.	G	C	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HSF5:NM_001080439:exon3:c.C926G:p.A309G,;ANNO=splicing:HSF5
17	56585634	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MTMR4:NM_004687:exon8:c.T553C:p.L185L,;ANNO=splicing:MTMR4
17	56636922	.	C	T	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TEX14:NM_198393:exon31:c.G4279A:p.E1427K,TEX14:NM_001201457:exon31:c.G4297A:p.E1433K,TEX14:NM_031272:exon30:c.G4159A:p.E1387K,;ANNO=splicing:TEX14
17	56643109	.	A	G	100	PASS	AC=4207;STUDIES=22;MAC=4207;MAF=0.174;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TEX14:NM_198393:exon28:c.T4083C:p.N1361N,TEX14:NM_001201457:exon28:c.T4101C:p.N1367N,TEX14:NM_031272:exon27:c.T3963C:p.N1321N,;ANNO=splicing:TEX14
17	56646622	.	C	T	100	PASS	AC=30;STUDIES=7;MAC=30;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TEX14(NM_001201457:c.3955-1G>A,NM_198393:c.3937-1G>A,NM_031272:c.3817-1G>A)
17	56688699	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TEX14:NM_198393:exon10:c.G1007A:p.R336Q,TEX14:NM_001201457:exon10:c.G1025A:p.R342Q,TEX14:NM_031272:exon10:c.G1007A:p.R336Q,;ANNO=splicing:TEX14
17	56688700	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TEX14:NM_198393:exon10:c.C1006T:p.R336W,TEX14:NM_001201457:exon10:c.C1024T:p.R342W,TEX14:NM_031272:exon10:c.C1006T:p.R336W,;ANNO=splicing:TEX14
17	56700209	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TEX14:NM_198393:exon4:c.A416G:p.Q139R,TEX14:NM_001201457:exon4:c.A416G:p.Q139R,TEX14:NM_031272:exon4:c.A416G:p.Q139R,;ANNO=splicing:TEX14
17	57141768	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRIM37(NM_001005207:c.809-2A>T,NM_015294:c.809-2A>T)
17	57157240	.	T	C	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRIM37(NM_001005207:c.492-2A>G,NM_015294:c.492-2A>G)
17	57262923	.	G	A	100	PASS	AC=18;STUDIES=10;MAC=18;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PRR11:NM_018304:exon4:c.G402A:p.K134K,;ANNO=splicing:PRR11
17	57466829	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:YPEL2:NM_001005404:exon4:c.C270T:p.Y90Y,;ANNO=splicing:YPEL2
17	57990046	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RPS6KB1:NM_003161:exon3:c.G193A:p.G65S,;ANNO=splicing:RPS6KB1
17	58235051	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CA4:NM_000717:exon5:c.A415T:p.M139L,;ANNO=splicing:CA4
17	58263012	.	C	T	100	PASS	AC=31;STUDIES=3;MAC=31;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:USP32:NM_032582:exon30:c.G3643A:p.V1215I,;ANNO=splicing:USP32
17	58289386	.	C	T	100	PASS	AC=14;STUDIES=9;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:USP32:NM_032582:exon19:c.G2178A:p.K726K,;ANNO=splicing:USP32
17	58303400	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:USP32:NM_032582:exon13:c.G1432A:p.G478S,;ANNO=splicing:USP32
17	58303401	.	G	A	100	PASS	AC=27;STUDIES=4;MAC=27;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:USP32:NM_032582:exon13:c.C1431T:p.S477S,;ANNO=splicing:USP32
17	59886117	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:BRIP1:NM_032043:exon7:c.C629T:p.P210L,;ANNO=nonsynonymous:BRIP1:NM_032043:exon7:c.C629A:p.P210H,;ANNO=splicing:BRIP1;ANNO=splicing:BRIP1
17	60464702	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EFCAB3:NM_173503:exon3:c.G76A:p.D26N,EFCAB3:NM_001144933:exon5:c.G232A:p.D78N,;ANNO=splicing:EFCAB3
17	60469326	.	C	T	100	PASS	AC=202;STUDIES=19;MAC=202;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:EFCAB3:NM_173503:exon4:c.C295T:p.R99X,EFCAB3:NM_001144933:exon6:c.C451T:p.R151X,;ANNO=splicing:EFCAB3
17	60472551	.	T	C	100	PASS	AC=54;STUDIES=5;MAC=54;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EFCAB3(NM_001144933:c.644+2T>C,NM_173503:c.488+2T>C)
17	60766320	.	G	A	100	PASS	AC=247;STUDIES=19;MAC=247;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MRC2:NM_006039:exon23:c.G3333A:p.T1111T,;ANNO=splicing:MRC2
17	60768003	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MRC2:NM_006039:exon27:c.C3893T:p.A1298V,;ANNO=splicing:MRC2
17	61560049	.	G	C	100	PASS	AC=93;STUDIES=8;MAC=93;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ACE:NM_000789:exon8:c.G1341C:p.T447T,;ANNO=splicing:ACE
17	61611245	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KCNH6(NM_173092:c.675-2A>G,NM_030779:c.675-2A>G)
17	61615771	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:KCNH6:NM_030779:exon8:c.G1702A:p.V568M,KCNH6:NM_173092:exon9:c.G1543A:p.V515M,;ANNO=splicing:KCNH6
17	61619795	.	C	T	100	PASS	AC=23;STUDIES=3;MAC=23;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KCNH6:NM_030779:exon9:c.C2148T:p.D716D,KCNH6:NM_173092:exon10:c.C1989T:p.D663D,;ANNO=splicing:KCNH6
17	61776618	.	T	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LIMD2:NM_030576:exon2:c.A41G:p.H14R,;ANNO=splicing:LIMD2
17	61781407	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STRADA:NM_001165969:exon10:c.G923A:p.G308D,STRADA:NM_001165970:exon10:c.G878A:p.G293D,;ANNO=splicing:STRADA
17	61804055	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STRADA:NM_001003787:exon3:c.C37T:p.R13W,STRADA:NM_001165970:exon3:c.C37T:p.R13W,;ANNO=splicing:STRADA
17	61875398	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DDX42:NM_203499:exon4:c.G373A:p.D125N,DDX42:NM_007372:exon5:c.G373A:p.D125N,;ANNO=splicing:DDX42
17	61888436	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DDX42:NM_203499:exon13:c.C1301G:p.T434S,DDX42:NM_007372:exon14:c.C1301G:p.T434S,;ANNO=splicing:DDX42
17	61908397	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PSMC5:NM_002805:exon8:c.G681A:p.G227G,PSMC5:NM_001199163:exon8:c.G657A:p.G219G,;ANNO=splicing:PSMC5
17	61958136	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GH2:NM_022556:exon4:c.T407A:p.M136K,GH2:NM_022557:exon4:c.T452A:p.M151K,GH2:NM_002059:exon4:c.T452A:p.M151K,GH2:NM_022558:exon4:c.T452A:p.I151K,;ANNO=splicing:GH2
17	61987779	.	C	T	100	PASS	AC=44;STUDIES=5;MAC=44;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:CSHL1(NM_022579:c.306+1G>A,NM_022580:c.57+1G>A,NM_022581:c.237+1G>A,NM_001318:c.24+1G>A)
17	61988546	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:CSHL1(NM_022579:c.10+1G>A,NM_022580:c.10+1G>A,NM_022581:c.10+1G>A)
17	61995377	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:GH1:NM_000515:exon3:c.C291T:p.S97S,GH1:NM_022559:exon3:c.C246T:p.S82S,;ANNO=splicing:GH1
17	61995451	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:GH1:NM_000515:exon3:c.A217G:p.N73D,GH1:NM_022559:exon3:c.A172G:p.N58D,;ANNO=splicing:GH1
17	62157023	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ERN1:NM_001433:exon4:c.C281T:p.T94M,;ANNO=splicing:ERN1
17	62248461	.	T	G	100	PASS	AC=59;STUDIES=6;MAC=59;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TEX2:NM_018469:exon7:c.A2691C:p.Q897H,;ANNO=splicing:TEX2
17	62461660	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MILR1(NM_001085423:c.90+2T>C)
17	62489011	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:POLG2(NM_007215:c.689+1G>A)
17	62589691	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:SMURF2:NM_022739:exon4:c.G201A:p.L67L,;ANNO=splicing:SMURF2
17	63156654	.	A	G	100	PASS	AC=41;STUDIES=11;MAC=41;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RGS9:NM_003835:exon5:c.A313G:p.T105A,RGS9:NM_001081955:exon5:c.A313G:p.T105A,RGS9:NM_001165933:exon5:c.A313G:p.T105A,;ANNO=splicing:RGS9
17	63156655	.	C	G	100	PASS	AC=41;STUDIES=11;MAC=41;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RGS9:NM_003835:exon5:c.C314G:p.T105R,RGS9:NM_001081955:exon5:c.C314G:p.T105R,RGS9:NM_001165933:exon5:c.C314G:p.T105R,;ANNO=splicing:RGS9
17	63164319	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RGS9:NM_003835:exon8:c.G502T:p.A168S,RGS9:NM_001081955:exon8:c.G502T:p.A168S,RGS9:NM_001165933:exon8:c.G502T:p.A168S,;ANNO=splicing:RGS9
17	63221121	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RGS9:NM_003835:exon18:c.C1409T:p.P470L,RGS9:NM_001081955:exon18:c.C1400T:p.P467L,;ANNO=splicing:RGS9
17	63530196	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AXIN2:NM_004655:exon10:c.C2239T:p.H747Y,;ANNO=splicing:AXIN2
17	63532439	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AXIN2:NM_004655:exon8:c.C2140T:p.R714W,;ANNO=splicing:AXIN2
17	63637082	.	C	T	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CEP112:NM_001199165:exon25:c.G2799A:p.Q933Q,CEP112:NM_001037325:exon5:c.G567A:p.Q189Q,CEP112:NM_145036:exon25:c.G2799A:p.Q933Q,;ANNO=splicing:CEP112
17	64092703	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CEP112:NM_001199165:exon7:c.G690A:p.L230L,CEP112:NM_145036:exon7:c.G690A:p.L230L,;ANNO=splicing:CEP112
17	65074701	.	C	A	100	PASS	AC=46;STUDIES=4;MAC=46;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=synonymous:HELZ:NM_014877:exon33:c.G5496T:p.A1832A,;ANNO=synonymous:HELZ:NM_014877:exon33:c.G5496A:p.A1832A,;ANNO=splicing:HELZ;ANNO=splicing:HELZ
17	65074702	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HELZ:NM_014877:exon33:c.C5495T:p.A1832V,;ANNO=splicing:HELZ
17	65353693	.	T	C	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:PSMD12:NM_002816:exon2:c.A110G:p.E37G,;ANNO=splicing:PSMD12
17	65730555	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NOL11:NM_015462:exon8:c.A930G:p.Q310Q,;ANNO=splicing:NOL11
17	65936555	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BPTF:NM_182641:exon19:c.G6260A:p.G2087D,BPTF:NM_004459:exon21:c.G6638A:p.G2213D,;ANNO=splicing:BPTF
17	66039955	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KPNA2:NM_002266:exon8:c.C932T:p.T311I,;ANNO=splicing:KPNA2
17	66247192	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:AMZ2:NM_001033570:exon5:c.G459A:p.G153G,AMZ2:NM_001033574:exon3:c.G285A:p.G95G,AMZ2:NM_001033571:exon5:c.G459A:p.G153G,AMZ2:NM_001033569:exon5:c.G459A:p.G153G,AMZ2:NM_016627:exon4:c.G459A:p.G153G,AMZ2:NM_001033572:exon5:c.G459A:p.G153G,;ANNO=splicing:AMZ2
17	66391215	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARSG:NM_014960:exon10:c.G1093A:p.V365M,;ANNO=splicing:ARSG
17	66864324	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:ABCA8:NM_007168:exon38:c.G4648A:p.V1550I,;ANNO=splicing:ABCA8
17	66864440	.	A	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:ABCA8(NM_007168:c.4647+2T>A)
17	66872845	.	C	G	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:ABCA8(NM_007168:c.4079-1G>C)
17	66873660	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ABCA8:NM_007168:exon31:c.G4079A:p.R1360Q,;ANNO=splicing:ABCA8
17	66881456	.	C	T	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCA8:NM_007168:exon25:c.G3310A:p.V1104I,;ANNO=splicing:ABCA8
17	66928428	.	C	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCA8(NM_007168:c.797+1G>C)
17	67004376	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:ABCA9:NM_080283:exon24:c.A3148T:p.K1050X,;ANNO=splicing:ABCA9
17	67012531	.	C	G	100	PASS	AC=21;STUDIES=10;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCA9:NM_080283:exon22:c.G2902C:p.D968H,;ANNO=splicing:ABCA9
17	67029866	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCA9(NM_080283:c.1276+1G>A)
17	67029868	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ABCA9:NM_080283:exon9:c.C1275T:p.P425P,;ANNO=splicing:ABCA9
17	67031799	.	A	G	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCA9(NM_080283:c.942+2T>C)
17	67085606	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCA6:NM_080284:exon27:c.A3606G:p.I1202M,;ANNO=splicing:ABCA6
17	67103953	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCA6:NM_080284:exon18:c.A2273T:p.D758V,;ANNO=splicing:ABCA6
17	67119548	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:ABCA6:NM_080284:exon10:c.A1268T:p.Y423F,;ANNO=nonsynonymous:ABCA6:NM_080284:exon10:c.A1268G:p.Y423C,;ANNO=splicing:ABCA6;ANNO=splicing:ABCA6
17	67149540	.	G	C	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:ABCA10:NM_080282:exon35:c.C4042G:p.L1348V,;ANNO=splicing:ABCA10
17	67149972	.	C	T	100	PASS	AC=308;STUDIES=18;MAC=308;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:ABCA10:NM_080282:exon33:c.G3965A:p.R1322Q,;ANNO=splicing:ABCA10
17	67149973	.	G	A	100	PASS	AC=1645;STUDIES=22;MAC=1645;MAF=0.068;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=stopgain:ABCA10:NM_080282:exon33:c.C3964T:p.R1322X,;ANNO=splicing:ABCA10
17	67150151	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:ABCA10(NM_080282:c.3786-1G>A)
17	67210992	.	T	C	100	PASS	AC=7246;STUDIES=20;MAC=7246;MAF=0.342;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:ABCA10:NM_080282:exon10:c.A859G:p.I287V,;ANNO=splicing:ABCA10
17	67218036	.	T	C	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCA10:NM_080282:exon6:c.A200G:p.E67G,;ANNO=splicing:ABCA10
17	67218672	.	A	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCA10(NM_080282:c.199+2T>C)
17	67249934	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCA5(NM_018672:c.4320+1G>A,NM_172232:c.4320+1G>A)
17	67264083	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCA5(NM_018672:c.3144+1G>A,NM_172232:c.3144+1G>A)
17	67287358	.	A	G	100	PASS	AC=834;STUDIES=21;MAC=834;MAF=0.036;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ABCA5:NM_172232:exon12:c.T1605C:p.D535D,ABCA5:NM_018672:exon11:c.T1605C:p.D535D,;ANNO=splicing:ABCA5
17	67501987	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MAP2K6:NM_002758:exon2:c.C83T:p.T28I,;ANNO=splicing:MAP2K6
17	71199772	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COG1:NM_018714:exon9:c.C2222T:p.P741L,;ANNO=splicing:COG1
17	71238491	.	G	A	100	PASS	AC=22;STUDIES=6;MAC=22;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:C17orf80(NM_017941:c.1621+1G>A,NM_001100622:c.1621+1G>A)
17	71241306	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C17orf80(NM_001100622:c.1729-1G>A)
17	71241307	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C17orf80:NM_001100622:exon6:c.A1730G:p.K577R,;ANNO=splicing:C17orf80
17	71346513	.	C	T	100	PASS	AC=818;STUDIES=20;MAC=818;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SDK2:NM_001144952:exon43:c.G5901A:p.G1967G,;ANNO=splicing:SDK2
17	71468356	.	A	G	100	PASS	AC=63;STUDIES=5;MAC=63;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SDK2:NM_001144952:exon3:c.T226C:p.Y76H,;ANNO=splicing:SDK2
17	72205447	.	C	T	100	PASS	AC=20;STUDIES=6;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:RPL38:NM_000999:exon4:c.C186T:p.P62P,RPL38:NM_001035258:exon4:c.C186T:p.P62P,;ANNO=splicing:RPL38
17	72349634	.	C	T	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIF19:NM_153209:exon17:c.C2222T:p.A741V,;ANNO=splicing:KIF19
17	72350302	.	G	C	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIF19:NM_153209:exon18:c.G2310C:p.E770D,;ANNO=splicing:KIF19
17	72366818	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPR142:NM_181790:exon3:c.G517A:p.V173I,;ANNO=splicing:GPR142
17	72462881	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CD300A:NM_007261:exon1:c.A39C:p.P13P,;ANNO=splicing:CD300A
17	72470671	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CD300A:NM_007261:exon3:c.C380T:p.A127V,;ANNO=splicing:CD300A
17	72691865	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CD300LF:NM_139018:exon6:c.T716C:p.M239T,;ANNO=splicing:CD300LF
17	72764377	.	T	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC9A3R1(NM_004252:c.888+2T>C)
17	72791662	.	G	T	100	PASS	AC=29;STUDIES=4;MAC=29;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM104(NM_017728:c.527-1G>T)
17	72815981	.	C	T	100	PASS	AC=153;STUDIES=14;MAC=153;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TMEM104:NM_017728:exon9:c.C729T:p.I243I,;ANNO=splicing:TMEM104
17	72842206	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GRIN2C:NM_000835:exon11:c.C2349T:p.D783D,;ANNO=splicing:GRIN2C
17	72956031	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C17orf28:NM_030630:exon8:c.C953T:p.P318L,;ANNO=splicing:C17orf28
17	72959176	.	G	C	100	PASS	AC=125;STUDIES=9;MAC=125;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:C17orf28:NM_030630:exon4:c.C388G:p.Q130E,;ANNO=splicing:C17orf28
17	72959177	.	C	A	100	PASS	AC=273;STUDIES=7;MAC=273;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:C17orf28(NM_030630:c.387-1G>T)
17	72960578	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C17orf28:NM_030630:exon2:c.G216A:p.K72K,;ANNO=splicing:C17orf28
17	72998322	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:CDR2L:NM_014603:exon4:c.C505A:p.R169R,;ANNO=nonsynonymous:CDR2L:NM_014603:exon4:c.C505G:p.R169G,;ANNO=splicing:CDR2L;ANNO=splicing:CDR2L
17	73016489	.	C	T	100	PASS	AC=1312;STUDIES=20;MAC=1312;MAF=0.056;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ICT1:NM_001545:exon4:c.C365T:p.T122M,;ANNO=splicing:ICT1
17	73038371	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:ATP5H:NM_006356:exon3:c.T124C:p.L42L,ATP5H:NM_001003785:exon3:c.T124C:p.L42L,;ANNO=splicing:ATP5H
17	73049110	.	T	C	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KCTD2:NM_015353:exon3:c.T450C:p.G150G,;ANNO=splicing:KCTD2
17	73094276	.	G	A	100	PASS	AC=36;STUDIES=6;MAC=36;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC16A5:NM_004695:exon4:c.G343A:p.G115S,;ANNO=splicing:SLC16A5
17	73124773	.	A	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ARMC7:NM_024585:exon3:c.A237C:p.G79G,;ANNO=splicing:ARMC7
17	73242591	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GGA3:NM_014001:exon3:c.C200T:p.T67M,GGA3:NM_138619:exon3:c.C200T:p.T67M,;ANNO=splicing:GGA3
17	73499607	.	G	A	100	PASS	AC=53;STUDIES=7;MAC=53;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CASKIN2:NM_020753:exon17:c.C1682T:p.T561M,CASKIN2:NM_001142643:exon16:c.C1436T:p.T479M,;ANNO=splicing:CASKIN2
17	73517590	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TSEN54:NM_207346:exon7:c.C622T:p.R208W,;ANNO=splicing:TSEN54
17	73519357	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TSEN54:NM_207346:exon9:c.C1254T:p.A418A,;ANNO=splicing:TSEN54
17	73519416	.	G	A	100	PASS	AC=16;STUDIES=7;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:TSEN54:NM_207346:exon9:c.G1313A:p.R438Q,;ANNO=splicing:TSEN54
17	73552128	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LLGL2:NM_001031803:exon3:c.C77T:p.T26M,LLGL2:NM_001015002:exon3:c.C77T:p.T26M,LLGL2:NM_004524:exon3:c.C77T:p.T26M,;ANNO=splicing:LLGL2
17	73555490	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LLGL2:NM_001031803:exon6:c.C529T:p.R177W,LLGL2:NM_001015002:exon6:c.C529T:p.R177W,LLGL2:NM_004524:exon6:c.C529T:p.R177W,;ANNO=splicing:LLGL2
17	73559543	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LLGL2:NM_001031803:exon8:c.C825T:p.Y275Y,LLGL2:NM_001015002:exon8:c.C825T:p.Y275Y,LLGL2:NM_004524:exon8:c.C825T:p.Y275Y,;ANNO=splicing:LLGL2
17	73623703	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RECQL5:NM_004259:exon19:c.G2875A:p.V959M,;ANNO=splicing:RECQL5
17	73623704	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RECQL5:NM_004259:exon19:c.C2874G:p.S958R,;ANNO=splicing:RECQL5
17	73623772	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RECQL5:NM_004259:exon19:c.G2806A:p.E936K,;ANNO=splicing:RECQL5
17	73623774	.	T	C	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RECQL5(NM_004259:c.2805-2A>G)
17	73627089	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RECQL5:NM_004259:exon11:c.G1550A:p.G517D,;ANNO=splicing:RECQL5
17	73661132	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RECQL5:NM_001003715:exon3:c.A251G:p.Q84R,RECQL5:NM_001003716:exon3:c.A251G:p.Q84R,RECQL5:NM_004259:exon3:c.A251G:p.Q84R,;ANNO=splicing:RECQL5
17	73695952	.	G	A	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SAP30BP(NM_013260:c.396+1G>A)
17	73733620	.	C	A	100	PASS	AC=42;STUDIES=6;MAC=42;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ITGB4:NM_001005731:exon18:c.C2115A:p.D705E,ITGB4:NM_001005619:exon17:c.C2115A:p.D705E,ITGB4:NM_000213:exon18:c.C2115A:p.D705E,;ANNO=splicing:ITGB4
17	73735787	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITGB4(NM_000213:c.2254+1G>T,NM_001005731:c.2254+1G>T,NM_001005619:c.2254+1G>T)
17	73738664	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ITGB4:NM_001005731:exon25:c.C2784T:p.D928D,ITGB4:NM_001005619:exon24:c.C2784T:p.D928D,ITGB4:NM_000213:exon25:c.C2784T:p.D928D,;ANNO=splicing:ITGB4
17	73750896	.	G	A	100	PASS	AC=13;STUDIES=8;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ITGB4:NM_001005731:exon33:c.G4348A:p.D1450N,ITGB4:NM_001005619:exon32:c.G4348A:p.G1450S,ITGB4:NM_000213:exon34:c.G4558A:p.D1520N,;ANNO=splicing:ITGB4
17	73751930	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ITGB4:NM_001005731:exon34:c.C4497T:p.G1499G,ITGB4:NM_001005619:exon34:c.C4656T:p.G1552G,ITGB4:NM_000213:exon35:c.C4707T:p.G1569G,;ANNO=splicing:ITGB4
17	73753025	.	G	C	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:ITGB4:NM_001005731:exon37:c.G4845A:p.G1615G,ITGB4:NM_001005619:exon37:c.G5004A:p.G1668G,ITGB4:NM_000213:exon38:c.G5055A:p.G1685G,;ANNO=synonymous:ITGB4:NM_001005731:exon37:c.G4845C:p.G1615G,ITGB4:NM_001005619:exon37:c.G5004C:p.G1668G,ITGB4:NM_000213:exon38:c.G5055C:p.G1685G,;ANNO=splicing:ITGB4;ANNO=splicing:ITGB4
17	73831858	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UNC13D:NM_199242:exon19:c.G1597A:p.V533M,;ANNO=splicing:UNC13D
17	73831934	.	A	C	100	PASS	AC=14;STUDIES=2;MAC=14;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UNC13D(NM_199242:c.1596+2T>G)
17	73872894	.	C	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRIM47:NM_033452:exon2:c.G676T:p.A226S,;ANNO=splicing:TRIM47
17	73874656	.	C	G	100	PASS	AC=227;STUDIES=6;MAC=227;MAF=0.101;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=splicing:TRIM47
17	73914244	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FBF1:NM_001080542:exon20:c.C2200T:p.R734W,;ANNO=splicing:FBF1
17	73916087	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FBF1(NM_001080542:c.1886+1G>C)
17	73919719	.	C	A	100	PASS	AC=24;STUDIES=9;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FBF1:NM_001080542:exon13:c.G927T:p.R309S,;ANNO=splicing:FBF1
17	73969706	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ACOX1:NM_007292:exon3:c.G430A:p.G144R,;ANNO=splicing:ACOX1
17	73969707	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ACOX1:NM_007292:exon3:c.C429T:p.H143H,;ANNO=splicing:ACOX1
17	73999478	.	T	C	100	PASS	AC=119;STUDIES=17;MAC=119;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CDK3:NM_001258:exon7:c.T791C:p.M264T,;ANNO=splicing:CDK3
17	74010508	.	T	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EVPL:NM_001988:exon18:c.A2372T:p.K791M,;ANNO=splicing:EVPL
17	74056470	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SRP68:NM_014230:exon7:c.G756A:p.G252G,;ANNO=splicing:SRP68
17	74075646	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZACN(NM_180990:c.222+2T>C)
17	74076504	.	G	A	100	PASS	AC=782;STUDIES=14;MAC=782;MAF=0.056;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=synonymous:ZACN:NM_180990:exon5:c.G543A:p.T181T,;ANNO=splicing:ZACN
17	74077482	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZACN:NM_180990:exon6:c.C668T:p.T223M,;ANNO=splicing:ZACN
17	74077483	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZACN:NM_180990:exon6:c.G669A:p.T223T,;ANNO=splicing:ZACN
17	74077484	.	G	T	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZACN(NM_180990:c.669+1G>T)
17	74148548	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RNF157(NM_052916:c.1810-2A>G)
17	74155654	.	A	T	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RNF157:NM_052916:exon12:c.T1066A:p.S356T,;ANNO=splicing:RNF157
17	74274071	.	G	A	100	PASS	AC=33;STUDIES=12;MAC=33;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:QRICH2:NM_032134:exon15:c.C4618T:p.R1540W,;ANNO=splicing:QRICH2
17	74283882	.	T	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:QRICH2:NM_032134:exon6:c.A3397G:p.R1133G,;ANNO=splicing:QRICH2
17	74300497	.	G	A	100	PASS	AC=1309;STUDIES=22;MAC=1309;MAF=0.055;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:QRICH2:NM_032134:exon3:c.C206T:p.A69V,;ANNO=splicing:QRICH2
17	74382067	.	G	C	100	PASS	AC=38;STUDIES=5;MAC=38;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SPHK1:NM_021972:exon3:c.G54C:p.A18A,SPHK1:NM_001142602:exon2:c.G12C:p.A4A,SPHK1:NM_182965:exon3:c.G270C:p.A90A,SPHK1:NM_001142601:exon3:c.G12C:p.A4A,;ANNO=splicing:SPHK1
17	74382590	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPHK1(NM_001142601:c.374+1G>A,NM_182965:c.632+1G>A,NM_021972:c.416+1G>A,NM_001142602:c.374+1G>A)
17	74391942	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:UBE2O:NM_022066:exon15:c.C2810T:p.S937L,;ANNO=splicing:UBE2O
17	74398780	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UBE2O:NM_022066:exon4:c.C589T:p.P197S,;ANNO=splicing:UBE2O
17	74475935	.	C	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RHBDF2:NM_024599:exon4:c.G239C:p.R80T,RHBDF2:NM_001005498:exon3:c.G152C:p.R51T,;ANNO=splicing:RHBDF2
17	74527224	.	T	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CYGB:NM_134268:exon3:c.A376T:p.I126F,;ANNO=splicing:CYGB
17	74569275	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ST6GALNAC2(NM_006456:c.530+2T>C)
17	74574836	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ST6GALNAC2(NM_006456:c.186+2T>C)
17	74621609	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ST6GALNAC1:NM_018414:exon9:c.G1606A:p.V536M,;ANNO=splicing:ST6GALNAC1
17	74622086	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ST6GALNAC1(NM_018414:c.1505+2T>C)
17	74684195	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:MXRA7:NM_001008529:exon2:c.G406A:p.G136R,MXRA7:NM_198530:exon2:c.G406A:p.G136R,MXRA7:NM_001008528:exon2:c.G406A:p.G136R,;ANNO=splicing:MXRA7
17	74684196	.	G	A	100	PASS	AC=7;STUDIES=7;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:MXRA7:NM_001008529:exon2:c.C405T:p.D135D,MXRA7:NM_198530:exon2:c.C405T:p.D135D,MXRA7:NM_001008528:exon2:c.C405T:p.D135D,;ANNO=splicing:MXRA7
17	74684260	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:MXRA7(NM_001008528:c.342-2A>G,NM_001008529:c.342-2A>G,NM_198530:c.342-2A>G)
17	75478416	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SEPT9:NM_001113495:exon2:c.C576T:p.V192V,SEPT9:NM_001113491:exon4:c.C912T:p.V304V,SEPT9:NM_001113494:exon3:c.C420T:p.V140V,SEPT9:NM_001113493:exon3:c.C891T:p.V297V,SEPT9:NM_001113496:exon2:c.C159T:p.V53V,SEPT9:NM_006640:exon3:c.C858T:p.V286V,SEPT9:NM_001113492:exon4:c.C420T:p.V140V,;ANNO=splicing:SEPT9
17	75483633	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SEPT9:NM_001113495:exon3:c.C705T:p.H235H,SEPT9:NM_001113491:exon5:c.C1041T:p.H347H,SEPT9:NM_001113494:exon4:c.C549T:p.H183H,SEPT9:NM_001113493:exon4:c.C1020T:p.H340H,SEPT9:NM_001113496:exon3:c.C288T:p.H96H,SEPT9:NM_006640:exon4:c.C987T:p.H329H,SEPT9:NM_001113492:exon5:c.C549T:p.H183H,;ANNO=splicing:SEPT9
17	75483634	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:SEPT9:NM_001113495:exon3:c.G706A:p.D236N,SEPT9:NM_001113491:exon5:c.G1042A:p.D348N,SEPT9:NM_001113494:exon4:c.G550A:p.D184N,SEPT9:NM_001113493:exon4:c.G1021A:p.D341N,SEPT9:NM_001113496:exon3:c.G289A:p.D97N,SEPT9:NM_006640:exon4:c.G988A:p.D330N,SEPT9:NM_001113492:exon5:c.G550A:p.D184N,;ANNO=splicing:SEPT9
17	76113726	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMC6(NM_007267:c.2021-1G>C,NM_001127198:c.2021-1G>C)
17	76120606	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMC6:NM_007267:exon8:c.C890T:p.A297V,TMC6:NM_001127198:exon8:c.C890T:p.A297V,;ANNO=splicing:TMC6
17	76129488	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMC8:NM_152468:exon6:c.C533A:p.A178D,;ANNO=splicing:TMC8
17	76200907	.	A	G	100	PASS	AC=37;STUDIES=10;MAC=37;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AFMID(NM_001010982:c.394-2A>G,NM_001145526:c.394-2A>G)
17	76395430	.	C	T	100	PASS	AC=10322;STUDIES=18;MAC=6418;MAF=0.383;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=3;ANNO=synonymous:PGS1:NM_024419:exon5:c.C513T:p.G171G,;ANNO=splicing:PGS1
17	76455083	.	G	A	100	PASS	AC=31;STUDIES=10;MAC=31;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DNAH17:NM_173628:exon61:c.C9861T:p.A3287A,;ANNO=splicing:DNAH17
17	76472817	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNAH17(NM_173628:c.7992-2A>G)
17	76475198	.	G	A	100	PASS	AC=23;STUDIES=4;MAC=23;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DNAH17:NM_173628:exon51:c.C7901T:p.A2634V,;ANNO=splicing:DNAH17
17	76476764	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DNAH17(NM_173628:c.7752+2T>A)
17	76502928	.	G	T	100	PASS	AC=80;STUDIES=5;MAC=80;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:DNAH17:NM_173628:exon30:c.C4677G:p.S1559R,;ANNO=nonsynonymous:DNAH17:NM_173628:exon30:c.C4677A:p.S1559R,;ANNO=splicing:DNAH17;ANNO=splicing:DNAH17
17	76563082	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNAH17:NM_173628:exon10:c.C1451T:p.S484L,;ANNO=splicing:DNAH17
17	76688579	.	C	A	100	PASS	AC=104;STUDIES=6;MAC=104;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CYTH1(NM_004762:c.812-2G>T)
17	76803717	.	C	T	100	PASS	AC=14;STUDIES=6;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:USP36:NM_025090:exon14:c.G1409A:p.R470Q,;ANNO=splicing:USP36
17	76818020	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:USP36:NM_025090:exon7:c.C756T:p.R252R,;ANNO=splicing:USP36
17	76973223	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LGALS3BP:NM_005567:exon2:c.A51G:p.Q17Q,;ANNO=splicing:LGALS3BP
17	76994369	.	C	T	100	PASS	AC=168;STUDIES=2;MAC=168;MAF=0.125;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CANT1
17	77077007	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ENGASE:NM_001042573:exon6:c.C724T:p.L242L,;ANNO=splicing:ENGASE
17	77077979	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ENGASE(NM_001042573:c.872-1G>A)
17	77705154	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:ENPP7:NM_178543:exon1:c.G253A:p.G85S,;ANNO=splicing:ENPP7
17	77707453	.	T	C	100	PASS	AC=44;STUDIES=8;MAC=44;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ENPP7(NM_178543:c.399+2T>C)
17	77711716	.	A	G	100	PASS	AC=55;STUDIES=6;MAC=55;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ENPP7:NM_178543:exon5:c.A1248G:p.E416E,;ANNO=splicing:ENPP7
17	77925396	.	G	A	100	PASS	AC=15;STUDIES=4;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:TBC1D16:NM_019020:exon5:c.C942T:p.S314S,;ANNO=splicing:TBC1D16
17	78014069	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCDC40:NM_017950:exon3:c.G552A:p.L184L,;ANNO=splicing:CCDC40
17	78022560	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CCDC40:NM_017950:exon5:c.C855T:p.H285H,;ANNO=splicing:CCDC40
17	78078930	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GAA:NM_001079804:exon2:c.C545G:p.T182R,GAA:NM_001079803:exon3:c.C545G:p.T182R,GAA:NM_000152:exon2:c.C545G:p.T182R,;ANNO=splicing:GAA
17	78078931	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GAA:NM_001079804:exon2:c.G546A:p.T182T,GAA:NM_001079803:exon3:c.G546A:p.T182T,GAA:NM_000152:exon2:c.G546A:p.T182T,;ANNO=splicing:GAA
17	78109804	.	G	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EIF4A3:NM_014740:exon11:c.C1218T:p.N406N,;ANNO=splicing:EIF4A3
17	78111941	.	C	T	100	PASS	AC=102;STUDIES=8;MAC=102;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EIF4A3:NM_014740:exon8:c.G867A:p.K289K,;ANNO=splicing:EIF4A3
17	78165123	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CARD14:NM_052819:exon5:c.C380T:p.A127V,CARD14:NM_024110:exon8:c.C1091T:p.A364V,;ANNO=splicing:CARD14
17	78168991	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CARD14:NM_052819:exon7:c.C647G:p.S216C,CARD14:NM_024110:exon10:c.C1358G:p.S453C,;ANNO=splicing:CARD14
17	78172198	.	C	T	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CARD14:NM_052819:exon10:c.C948T:p.S316S,CARD14:NM_024110:exon13:c.C1659T:p.S553S,;ANNO=splicing:CARD14
17	78172389	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CARD14:NM_052819:exon10:c.T1139C:p.M380T,CARD14:NM_024110:exon13:c.T1850C:p.M617T,;ANNO=splicing:CARD14
17	78175668	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CARD14:NM_024110:exon14:c.C1977T:p.D659D,;ANNO=splicing:CARD14
17	78197052	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC26A11:NM_001166349:exon4:c.G429T:p.G143G,SLC26A11:NM_173626:exon5:c.G429T:p.G143G,SLC26A11:NM_001166347:exon5:c.G429T:p.G143G,SLC26A11:NM_001166348:exon4:c.G429T:p.G143G,;ANNO=splicing:SLC26A11
17	78215620	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC26A11:NM_001166349:exon9:c.G1036A:p.G346S,SLC26A11:NM_173626:exon10:c.G1036A:p.G346S,SLC26A11:NM_001166347:exon10:c.G1036A:p.G346S,SLC26A11:NM_001166348:exon9:c.G1036A:p.G346S,;ANNO=splicing:SLC26A11
17	78262161	.	T	C	100	PASS	AC=3997;STUDIES=20;MAC=3997;MAF=0.185;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:RNF213:NM_020954:exon4:c.T809C:p.M270T,RNF213:NM_020914:exon5:c.T956C:p.M319T,;ANNO=splicing:RNF213
17	78272318	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RNF213:NM_020954:exon11:c.C2210T:p.T737M,RNF213:NM_020914:exon12:c.C2357T:p.T786M,;ANNO=splicing:RNF213
17	78323570	.	A	G	100	PASS	AC=43;STUDIES=13;MAC=43;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RNF213:NM_020914:exon31:c.A10099G:p.I3367V,;ANNO=splicing:RNF213
17	78325483	.	A	G	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RNF213(NM_020914:c.10331-2A>G)
17	78348389	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RNF213:NM_020914:exon51:c.G13221A:p.K4407K,;ANNO=splicing:RNF213
17	78350762	.	C	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:RNF213:NM_020914:exon54:c.C13656G:p.Y4552X,;ANNO=splicing:RNF213
17	78357478	.	A	G	100	PASS	AC=407;STUDIES=19;MAC=407;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RNF213:NM_020914:exon60:c.A14219G:p.H4740R,;ANNO=splicing:RNF213
17	78359420	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RNF213:NM_020914:exon62:c.C14685T:p.N4895N,;ANNO=splicing:RNF213
17	78396004	.	A	G	100	PASS	AC=514;STUDIES=14;MAC=514;MAF=0.033;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ENDOV(NM_173627:c.363-2A>G,NM_001164638:c.228-2A>G,NM_001164637:c.228-2A>G)
17	78599592	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RPTOR:NM_020761:exon2:c.C264T:p.I88I,RPTOR:NM_001163034:exon2:c.C264T:p.I88I,;ANNO=splicing:RPTOR
17	78820374	.	G	A	100	PASS	AC=2586;STUDIES=22;MAC=2586;MAF=0.108;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RPTOR:NM_020761:exon11:c.G1314A:p.Q438Q,RPTOR:NM_001163034:exon11:c.G1314A:p.Q438Q,;ANNO=splicing:RPTOR
17	78831700	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RPTOR:NM_020761:exon13:c.C1509T:p.S503S,RPTOR:NM_001163034:exon13:c.C1509T:p.S503S,;ANNO=splicing:RPTOR
17	78968905	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CHMP6:NM_024591:exon3:c.T260C:p.M87T,;ANNO=splicing:CHMP6
17	79084715	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BAIAP2:NM_006340:exon14:c.G1537A:p.A513T,;ANNO=splicing:BAIAP2
17	79098814	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AATK:NM_001080395:exon8:c.C756T:p.S252S,AATK:NM_004920:exon7:c.C447T:p.S149S,;ANNO=splicing:AATK
17	79164707	.	C	T	100	PASS	AC=253;STUDIES=16;MAC=253;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AZI1:NM_001009811:exon22:c.G2835A:p.A945A,AZI1:NM_014984:exon23:c.G2943A:p.A981A,;ANNO=splicing:AZI1
17	79225412	.	C	T	100	PASS	AC=50;STUDIES=7;MAC=50;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC38A10:NM_138570:exon14:c.G1946A:p.G649D,SLC38A10:NM_001037984:exon14:c.G1946A:p.G649D,;ANNO=splicing:SLC38A10
17	79512908	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C17orf70:NM_025161:exon6:c.G2174A:p.G725D,;ANNO=splicing:C17orf70
17	79526441	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NPLOC4:NM_017921:exon17:c.C1671T:p.S557S,;ANNO=splicing:NPLOC4
17	79539043	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NPLOC4:NM_017921:exon13:c.C1353T:p.D451D,;ANNO=splicing:NPLOC4
17	79614938	.	A	G	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TSPAN10:NM_031945:exon3:c.A682G:p.N228D,;ANNO=splicing:TSPAN10
17	79637484	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC137(NM_199287:c.497+1G>A)
17	79826818	.	G	A	100	PASS	AC=24;STUDIES=6;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ARHGDIA:NM_004309:exon6:c.C549T:p.D183D,ARHGDIA:NM_001185077:exon6:c.C549T:p.D183D,ARHGDIA:NM_001185078:exon6:c.C417T:p.N139N,;ANNO=splicing:ARHGDIA
17	79875594	.	A	C	100	PASS	AC=22;STUDIES=3;MAC=22;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SIRT7:NM_016538:exon3:c.T233G:p.V78G,;ANNO=splicing:SIRT7
17	79891183	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PYCR1:NM_153824:exon7:c.G867A:p.K289K,PYCR1:NM_006907:exon7:c.G867A:p.K289K,;ANNO=splicing:PYCR1
17	79892802	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PYCR1:NM_153824:exon4:c.C540T:p.Y180Y,PYCR1:NM_006907:exon4:c.C540T:p.Y180Y,;ANNO=splicing:PYCR1
17	79941544	.	G	T	100	PASS	AC=73;STUDIES=8;MAC=73;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ASPSCR1:NM_024083:exon3:c.G273T:p.M91I,;ANNO=splicing:ASPSCR1
17	79974815	.	A	G	100	PASS	AC=30;STUDIES=11;MAC=30;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ASPSCR1(NM_024083:c.1475-2A>G)
17	80009170	.	C	T	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RFNG:NM_002917:exon2:c.G316A:p.G106S,;ANNO=splicing:RFNG
17	80041394	.	G	A	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:FASN:NM_004104:exon31:c.C5340T:p.L1780L,;ANNO=splicing:FASN
17	80041514	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FASN:NM_004104:exon31:c.C5220T:p.G1740G,;ANNO=splicing:FASN
17	80046266	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FASN:NM_004104:exon16:c.G2593A:p.D865N,;ANNO=splicing:FASN
17	80047048	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FASN:NM_004104:exon14:c.G2101C:p.V701L,;ANNO=splicing:FASN
17	80053197	.	T	C	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FASN:NM_004104:exon3:c.A279G:p.G93G,;ANNO=splicing:FASN
17	80053347	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=synonymous:FASN:NM_004104:exon3:c.G129T:p.G43G,;ANNO=synonymous:FASN:NM_004104:exon3:c.G129A:p.G43G,;ANNO=splicing:FASN;ANNO=splicing:FASN
17	80146295	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC57:NM_198082:exon7:c.G852C:p.K284N,;ANNO=splicing:CCDC57
17	80151632	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCDC57:NM_198082:exon6:c.A851C:p.K284T,;ANNO=splicing:CCDC57
17	80151859	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC57:NM_198082:exon5:c.C775T:p.R259W,;ANNO=splicing:CCDC57
17	80367243	.	C	T	100	PASS	AC=22;STUDIES=9;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C17orf101(NM_024648:c.423+1G>A,NM_175902:c.423+1G>A)
17	80367285	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C17orf101:NM_175902:exon4:c.G382A:p.V128I,C17orf101:NM_024648:exon4:c.G382A:p.V128I,;ANNO=splicing:C17orf101
17	80367286	.	G	A	100	PASS	AC=60;STUDIES=17;MAC=60;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C17orf101:NM_175902:exon4:c.C381T:p.S127S,C17orf101:NM_024648:exon4:c.C381T:p.S127S,;ANNO=splicing:C17orf101
17	80369330	.	C	T	100	PASS	AC=97;STUDIES=13;MAC=97;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C17orf101(NM_024648:c.380+1G>A,NM_175902:c.380+1G>A)
17	80397506	.	G	C	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HEXDC(NM_173620:c.899-1G>C)
17	80417868	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NARF:NM_031968:exon2:c.G28A:p.E10K,NARF:NM_012336:exon2:c.G28A:p.E10K,NARF:NM_001083608:exon2:c.G28A:p.E10K,;ANNO=splicing:NARF
17	80616368	.	C	T	100	PASS	AC=21;STUDIES=5;MAC=21;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:RAB40B:NM_006822:exon5:c.G564T:p.K188N,;ANNO=synonymous:RAB40B:NM_006822:exon5:c.G564A:p.K188K,;ANNO=splicing:RAB40B;ANNO=splicing:RAB40B
17	80706732	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FN3K:NM_022158:exon5:c.T470C:p.V157A,;ANNO=splicing:FN3K
17	80863813	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TBCD:NM_005993:exon20:c.C1806G:p.V602V,;ANNO=splicing:TBCD
17	80963086	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:B3GNTL1:NM_001009905:exon6:c.A409G:p.I137V,;ANNO=splicing:B3GNTL1
17	80972329	.	C	T	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:B3GNTL1(NM_001009905:c.408+1G>C);ANNO=splicing:B3GNTL1(NM_001009905:c.408+1G>A)
17	80992974	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:B3GNTL1:NM_001009905:exon4:c.C279T:p.V93V,;ANNO=splicing:B3GNTL1
17	81050913	.	G	A	100	PASS	AC=25;STUDIES=5;MAC=25;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:METRNL:NM_001004431:exon3:c.G558A:p.A186A,;ANNO=splicing:METRNL
18	166819	.	T	C	100	PASS	AC=4196;STUDIES=21;MAC=4196;MAF=0.187;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:USP14:NM_005151:exon3:c.T195C:p.N65N,USP14:NM_001037334:exon3:c.T195C:p.N65N,;ANNO=splicing:USP14
18	198132	.	C	T	100	PASS	AC=38;STUDIES=13;MAC=38;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:USP14:NM_005151:exon9:c.C761T:p.T254I,USP14:NM_001037334:exon8:c.C656T:p.T219I,;ANNO=splicing:USP14
18	215504	.	G	A	100	PASS	AC=30;STUDIES=12;MAC=30;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:THOC1:NM_005131:exon20:c.C1603T:p.P535S,;ANNO=splicing:THOC1
18	334742	.	C	T	100	PASS	AC=10159;STUDIES=21;MAC=10159;MAF=0.464;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:COLEC12:NM_130386:exon6:c.G1816A:p.G606S,;ANNO=splicing:COLEC12
18	618107	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLUL1(NM_014410:c.106+1G>A,NM_199167:c.106+1G>A)
18	619361	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CLUL1:NM_014410:exon3:c.G255A:p.Q85Q,CLUL1:NM_199167:exon3:c.G255A:p.Q85Q,;ANNO=splicing:CLUL1
18	627530	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLUL1(NM_014410:c.856+1G>A,NM_199167:c.856+1G>A)
18	712505	.	A	G	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:ENOSF1:NM_017512:exon1:c.T83C:p.M28T,ENOSF1:NM_202758:exon1:c.T2C:p.M1T,;ANNO=splicing:ENOSF1
18	2577745	.	A	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NDC80:NM_006101:exon4:c.A180G:p.R60R,;ANNO=splicing:NDC80
18	2666869	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SMCHD1:NM_015295:exon3:c.A263G:p.D88G,;ANNO=splicing:SMCHD1
18	2890560	.	T	C	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EMILIN2:NM_032048:exon4:c.T435C:p.D145D,;ANNO=splicing:EMILIN2
18	2940603	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:LPIN2:NM_014646:exon5:c.C698T:p.T233I,;ANNO=nonsynonymous:LPIN2:NM_014646:exon5:c.C698A:p.T233N,;ANNO=splicing:LPIN2;ANNO=splicing:LPIN2
18	2940603	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:LPIN2:NM_014646:exon5:c.C698T:p.T233I,;ANNO=nonsynonymous:LPIN2:NM_014646:exon5:c.C698A:p.T233N,;ANNO=splicing:LPIN2;ANNO=splicing:LPIN2
18	3079178	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MYOM1:NM_019856:exon33:c.A4359G:p.Q1453Q,MYOM1:NM_003803:exon34:c.A4647G:p.Q1549Q,;ANNO=splicing:MYOM1
18	3094169	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYOM1:NM_019856:exon25:c.C3575T:p.P1192L,MYOM1:NM_003803:exon26:c.C3863T:p.P1288L,;ANNO=splicing:MYOM1
18	3134649	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=stopgain:MYOM1:NM_019856:exon16:c.C2383T:p.R795X,MYOM1:NM_003803:exon16:c.C2383T:p.R795X,;ANNO=nonsynonymous:MYOM1:NM_019856:exon16:c.C2383G:p.R795G,MYOM1:NM_003803:exon16:c.C2383G:p.R795G,;ANNO=splicing:MYOM1;ANNO=splicing:MYOM1
18	3168816	.	G	A	100	PASS	AC=5439;STUDIES=21;MAC=5439;MAF=0.237;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYOM1:NM_019856:exon9:c.C1338T:p.N446N,MYOM1:NM_003803:exon9:c.C1338T:p.N446N,;ANNO=splicing:MYOM1
18	3176040	.	C	G	100	PASS	AC=16005;STUDIES=20;MAC=5177;MAF=0.244;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:MYOM1:NM_019856:exon6:c.G1022C:p.G341A,MYOM1:NM_003803:exon6:c.G1022C:p.G341A,;ANNO=splicing:MYOM1
18	3193816	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYOM1:NM_019856:exon3:c.G431A:p.R144H,MYOM1:NM_003803:exon3:c.G431A:p.R144H,;ANNO=splicing:MYOM1
18	3262784	.	C	T	100	PASS	AC=1363;STUDIES=3;MAC=679;MAF=0.333;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MYL12B
18	3729136	.	C	T	100	PASS	AC=247;STUDIES=18;MAC=247;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DLGAP1:NM_001003809:exon4:c.C684A:p.H228Q,;ANNO=splicing:DLGAP1
18	5969560	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:L3MBTL4:NM_173464:exon18:c.A1473G:p.E491E,;ANNO=splicing:L3MBTL4
18	6171826	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:L3MBTL4(NM_173464:c.1096+1G>A)
18	6241358	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:L3MBTL4:NM_173464:exon8:c.C551T:p.P184L,;ANNO=splicing:L3MBTL4
18	6301903	.	G	A	100	PASS	AC=551;STUDIES=21;MAC=551;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:L3MBTL4:NM_173464:exon4:c.C126T:p.H42H,;ANNO=splicing:L3MBTL4
18	6958477	.	C	G	100	PASS	AC=94;STUDIES=9;MAC=94;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LAMA1:NM_005559:exon55:c.G7963C:p.E2655Q,;ANNO=splicing:LAMA1
18	6966296	.	G	A	100	PASS	AC=558;STUDIES=12;MAC=558;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LAMA1:NM_005559:exon49:c.C6900T:p.S2300S,;ANNO=splicing:LAMA1
18	7016490	.	G	A	100	PASS	AC=26;STUDIES=7;MAC=26;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LAMA1:NM_005559:exon21:c.C2989T:p.P997S,;ANNO=splicing:LAMA1
18	7046276	.	C	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LAMA1(NM_005559:c.858+1G>T)
18	8384558	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PTPRM(NM_002845:c.3879-1G>A,NM_001105244:c.3918-1G>A)
18	10705744	.	G	A	100	PASS	AC=1737;STUDIES=7;MAC=1737;MAF=0.316;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FAM38B:NM_022068:exon37:c.C5250T:p.S1750S,;ANNO=splicing:FAM38B
18	12308793	.	G	C	100	PASS	AC=2793;STUDIES=22;MAC=2793;MAF=0.116;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TUBB6:NM_032525:exon2:c.G165C:p.S55S,;ANNO=splicing:TUBB6
18	12420324	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLMO1:NM_006553:exon2:c.C33T:p.G11G,SLMO1:NM_001142405:exon2:c.C33T:p.G11G,;ANNO=splicing:SLMO1
18	12464867	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPIRE1:NM_020148:exon10:c.A1453G:p.K485E,SPIRE1:NM_001128627:exon10:c.A1093G:p.K365E,SPIRE1:NM_001128626:exon11:c.A1495G:p.K499E,;ANNO=splicing:SPIRE1
18	12963157	.	A	G	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SEH1L(NM_001013437:c.309-2A>G,NM_031216:c.309-2A>G)
18	13019205	.	T	C	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CEP192:NM_032142:exon9:c.T1050C:p.S350S,;ANNO=splicing:CEP192
18	13069737	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CEP192:NM_032142:exon27:c.G5056A:p.V1686I,;ANNO=splicing:CEP192
18	13096305	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CEP192:NM_032142:exon36:c.G6556C:p.E2186Q,;ANNO=splicing:CEP192
18	14513786	.	T	C	100	PASS	AC=23;STUDIES=4;MAC=23;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:POTEC(NM_001137671:c.1409-2A>G)
18	14780019	.	G	T	100	PASS	AC=233;STUDIES=3;MAC=233;MAF=0.070;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;HWE_FAILURES=2;ANNO=nonsynonymous:ANKRD30B:NM_001145029:exon11:c.G1481T:p.G494V,;ANNO=splicing:ANKRD30B
18	14843023	.	C	G	100	PASS	AC=44;STUDIES=5;MAC=44;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ANKRD30B:NM_001145029:exon33:c.C2752G:p.P918A,;ANNO=splicing:ANKRD30B
18	20833694	.	C	G	100	PASS	AC=13;STUDIES=7;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CABLES1:NM_138375:exon9:c.C760G:p.L254V,CABLES1:NM_001100619:exon9:c.C1555G:p.L519V,;ANNO=splicing:CABLES1
18	20936558	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C18orf45:NM_032933:exon12:c.G671A:p.S224N,;ANNO=splicing:C18orf45
18	21043043	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RIOK3:NM_003831:exon2:c.C179T:p.A60V,;ANNO=splicing:RIOK3
18	21044076	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RIOK3:NM_003831:exon3:c.G325A:p.V109I,;ANNO=splicing:RIOK3
18	21114410	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NPC1:NM_000271:exon23:c.C3591T:p.S1197S,;ANNO=splicing:NPC1
18	21153416	.	C	A	100	PASS	AC=16;STUDIES=10;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NPC1:NM_000271:exon2:c.G180T:p.Q60H,;ANNO=splicing:NPC1
18	21353551	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LAMA3:NM_198129:exon9:c.C1273T:p.P425S,LAMA3:NM_001127717:exon9:c.C1273T:p.P425S,;ANNO=splicing:LAMA3
18	21424973	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LAMA3:NM_198129:exon30:c.G3604T:p.V1202F,LAMA3:NM_001127717:exon30:c.G3604T:p.V1202F,;ANNO=splicing:LAMA3
18	21427428	.	C	T	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LAMA3:NM_198129:exon32:c.C3932T:p.P1311L,LAMA3:NM_001127717:exon32:c.C3932T:p.P1311L,;ANNO=splicing:LAMA3
18	21479028	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LAMA3:NM_001127718:exon9:c.C1008T:p.H336H,LAMA3:NM_198129:exon46:c.C5835T:p.H1945H,LAMA3:NM_000227:exon9:c.C1008T:p.H336H,LAMA3:NM_001127717:exon46:c.C5835T:p.H1945H,;ANNO=splicing:LAMA3
18	21512124	.	A	T	100	PASS	AC=18;STUDIES=6;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LAMA3:NM_001127718:exon28:c.A3582T:p.G1194G,LAMA3:NM_198129:exon66:c.A8577T:p.G2859G,LAMA3:NM_000227:exon29:c.A3750T:p.G1250G,LAMA3:NM_001127717:exon65:c.A8409T:p.G2803G,;ANNO=splicing:LAMA3
18	21523934	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LAMA3:NM_001127718:exon31:c.C4214T:p.T1405M,LAMA3:NM_198129:exon69:c.C9209T:p.T3070M,LAMA3:NM_000227:exon32:c.C4382T:p.T1461M,LAMA3:NM_001127717:exon68:c.C9041T:p.T3014M,;ANNO=splicing:LAMA3
18	21529730	.	G	A	100	PASS	AC=144;STUDIES=9;MAC=144;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LAMA3:NM_001127718:exon33:c.G4358A:p.S1453N,LAMA3:NM_198129:exon71:c.G9353A:p.S3118N,LAMA3:NM_000227:exon34:c.G4526A:p.S1509N,LAMA3:NM_001127717:exon70:c.G9185A:p.S3062N,;ANNO=splicing:LAMA3
18	21698195	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TTC39C:NM_001135993:exon8:c.A1185G:p.A395A,TTC39C:NM_153211:exon8:c.A1002G:p.A334A,;ANNO=splicing:TTC39C
18	21752340	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OSBPL1A:NM_018030:exon8:c.A662G:p.K221R,OSBPL1A:NM_001242508:exon10:c.A1055G:p.K352R,OSBPL1A:NM_080597:exon22:c.A2201G:p.K734R,;ANNO=splicing:OSBPL1A
18	21776090	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OSBPL1A:NM_018030:exon4:c.T137A:p.M46K,OSBPL1A:NM_001242508:exon6:c.T530A:p.M177K,OSBPL1A:NM_080597:exon18:c.T1676A:p.M559K,;ANNO=splicing:OSBPL1A
18	21897114	.	G	A	100	PASS	AC=14;STUDIES=8;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OSBPL1A:NM_080597:exon11:c.C869T:p.T290M,;ANNO=splicing:OSBPL1A
18	22008833	.	G	T	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IMPACT:NM_018439:exon3:c.G166T:p.V56L,;ANNO=splicing:IMPACT
18	23724648	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PSMA8:NM_144662:exon2:c.A228G:p.A76A,PSMA8:NM_001025096:exon2:c.A228G:p.A76A,;ANNO=splicing:PSMA8
18	23807239	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TAF4B:NM_005640:exon1:c.A342G:p.P114P,;ANNO=splicing:TAF4B
18	24056623	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KCTD1:NM_198991:exon4:c.A165G:p.R55R,KCTD1:NM_001142730:exon3:c.A1989G:p.R663R,KCTD1:NM_001136205:exon3:c.A165G:p.R55R,;ANNO=splicing:KCTD1
18	25727748	.	C	T	100	PASS	AC=102;STUDIES=8;MAC=102;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CDH2:NM_001792:exon2:c.G61A:p.A21T,;ANNO=splicing:CDH2
18	28576756	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:DSC3(NM_001941:c.2493+1G>A,NM_024423:c.2493+1G>A)
18	28577016	.	T	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DSC3(NM_001941:c.2235-2A>G,NM_024423:c.2235-2A>G)
18	28611139	.	A	C	100	PASS	AC=21014;STUDIES=18;MAC=0;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DSC3(NM_001941:c.154-1T>G,NM_024423:c.154-1T>G)
18	28712531	.	C	T	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DSC1:NM_004948:exon14:c.G2238A:p.T746T,DSC1:NM_024421:exon14:c.G2238A:p.T746T,;ANNO=splicing:DSC1
18	28712532	.	G	A	100	PASS	AC=64;STUDIES=8;MAC=64;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DSC1:NM_004948:exon14:c.C2237T:p.T746M,DSC1:NM_024421:exon14:c.C2237T:p.T746M,;ANNO=splicing:DSC1
18	28712654	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DSC1(NM_004948:c.2116-2A>G,NM_024421:c.2116-2A>G)
18	28734738	.	G	T	100	PASS	AC=48;STUDIES=7;MAC=48;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:DSC1:NM_004948:exon5:c.C626T:p.A209V,DSC1:NM_024421:exon5:c.C626T:p.A209V,;ANNO=nonsynonymous:DSC1:NM_004948:exon5:c.C626A:p.A209E,DSC1:NM_024421:exon5:c.C626A:p.A209E,;ANNO=splicing:DSC1;ANNO=splicing:DSC1
18	28908153	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DSG1:NM_001942:exon4:c.T218C:p.I73T,;ANNO=splicing:DSG1
18	29848727	.	C	T	100	PASS	AC=181;STUDIES=16;MAC=181;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FAM59A:NM_001242409:exon6:c.G1738A:p.V580I,FAM59A:NM_022751:exon6:c.G1735A:p.V579I,;ANNO=splicing:FAM59A
18	29866994	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FAM59A:NM_001242409:exon4:c.C1566T:p.A522A,FAM59A:NM_022751:exon4:c.C1566T:p.A522A,;ANNO=splicing:FAM59A
18	30322011	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KLHL14:NM_020805:exon3:c.A949G:p.I317V,;ANNO=splicing:KLHL14
18	30928852	.	A	G	100	PASS	AC=57;STUDIES=14;MAC=57;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C18orf34(NM_001105528:c.457+2T>C,NM_198995:c.457+2T>C)
18	30950014	.	C	T	100	PASS	AC=155;STUDIES=16;MAC=155;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C18orf34:NM_198995:exon6:c.G348A:p.R116R,C18orf34:NM_001105528:exon5:c.G348A:p.R116R,;ANNO=splicing:C18orf34
18	30969593	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C18orf34:NM_198995:exon5:c.G119A:p.G40D,C18orf34:NM_001105528:exon4:c.G119A:p.G40D,;ANNO=splicing:C18orf34
18	32400878	.	G	A	100	PASS	AC=37;STUDIES=12;MAC=37;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DTNA:NM_001198938:exon10:c.G1000A:p.V334M,DTNA:NM_001198942:exon2:c.G46A:p.V16M,DTNA:NM_001128175:exon10:c.G1000A:p.V334M,DTNA:NM_001198941:exon9:c.G1000A:p.V334M,DTNA:NM_001390:exon8:c.G1000A:p.V334I,DTNA:NM_032978:exon9:c.G1000A:p.V334M,DTNA:NM_001198944:exon2:c.G46A:p.V16M,DTNA:NM_032980:exon2:c.G46A:p.V16M,DTNA:NM_001391:exon8:c.G1000A:p.V334I,DTNA:NM_032981:exon2:c.G46A:p.V16M,DTNA:NM_001198940:exon10:c.G1000A:p.V334M,DTNA:NM_032975:exon10:c.G1000A:p.V334I,DTNA:NM_001198943:exon2:c.G250A:p.V84M,DTNA:NM_001392:exon10:c.G1000A:p.V334I,DTNA:NM_001198939:exon10:c.G1000A:p.V334M,DTNA:NM_032979:exon10:c.G1000A:p.V334I,;ANNO=splicing:DTNA
18	33779645	.	G	C	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MOCOS(NM_017947:c.299-1G>C)
18	33837036	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MOCOS:NM_017947:exon12:c.G2270A:p.S757N,;ANNO=splicing:MOCOS
18	34267092	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FHOD3:NM_025135:exon13:c.C1447G:p.R483G,;ANNO=splicing:FHOD3
18	34378571	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C18orf10:NM_015476:exon6:c.A498G:p.A166A,;ANNO=splicing:C18orf10
18	34398858	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C18orf10:NM_015476:exon2:c.A164G:p.Q55R,;ANNO=splicing:C18orf10
18	34398935	.	T	C	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C18orf10:NM_015476:exon2:c.A87G:p.E29E,;ANNO=splicing:C18orf10
18	34753043	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1328:NM_020776:exon9:c.C1522T:p.R508W,;ANNO=splicing:KIAA1328
18	34854769	.	G	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CELF4:NM_001025089:exon5:c.C626G:p.P209R,CELF4:NM_020180:exon5:c.C656G:p.P219R,CELF4:NM_001025087:exon5:c.C656G:p.P219R,CELF4:NM_001025088:exon5:c.C653G:p.P218R,;ANNO=splicing:CELF4
18	39637848	.	C	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PIK3C3:NM_002647:exon22:c.C2265A:p.G755G,;ANNO=splicing:PIK3C3
18	43224125	.	G	A	100	PASS	AC=56;STUDIES=7;MAC=56;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC14A2:NM_007163:exon10:c.G1351A:p.G451R,;ANNO=splicing:SLC14A2
18	43253781	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC14A2:NM_007163:exon18:c.C2511T:p.C837C,;ANNO=splicing:SLC14A2
18	43314238	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC14A1(NM_001146036:c.341-1G>A,NM_001128588:c.509-1G>A,NM_015865:c.341-1G>A,NM_001146037:c.509-1G>A)
18	43319274	.	G	A	100	PASS	AC=1265;STUDIES=22;MAC=1265;MAF=0.053;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC14A1:NM_015865:exon7:c.G810A:p.A270A,SLC14A1:NM_001128588:exon8:c.G978A:p.A326A,SLC14A1:NM_001146036:exon8:c.G810A:p.A270A,SLC14A1:NM_001146037:exon6:c.G978A:p.A326A,;ANNO=splicing:SLC14A1
18	43420177	.	G	A	100	PASS	AC=3660;STUDIES=22;MAC=3660;MAF=0.151;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SIGLEC15:NM_213602:exon5:c.G876A:p.E292E,;ANNO=splicing:SIGLEC15
18	43445581	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:EPG5:NM_020964:exon39:c.C6765T:p.P2255P,;ANNO=splicing:EPG5
18	43510795	.	G	A	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EPG5:NM_020964:exon12:c.C2259T:p.D753D,;ANNO=splicing:EPG5
18	43534361	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EPG5:NM_020964:exon2:c.A1007G:p.Q336R,;ANNO=splicing:EPG5
18	43700025	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HAUS1:NM_138443:exon4:c.G475A:p.E159K,;ANNO=splicing:HAUS1
18	43703331	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:HAUS1(NM_138443:c.666+1G>A)
18	44236995	.	A	T	100	PASS	AC=201;STUDIES=6;MAC=201;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LOXHD1:NM_144612:exon1:c.T2A:p.M1K,;ANNO=splicing:LOXHD1
18	44262027	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ST8SIA5:NM_013305:exon6:c.G570A:p.R190R,;ANNO=splicing:ST8SIA5
18	44584606	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KATNAL2:NM_031303:exon4:c.G117A:p.R39R,;ANNO=splicing:KATNAL2
18	44656616	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HDHD2:NM_032124:exon4:c.C394T:p.R132W,;ANNO=splicing:HDHD2
18	44661074	.	A	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HDHD2:NM_032124:exon3:c.T103C:p.L35L,;ANNO=splicing:HDHD2
18	46904937	.	T	C	100	PASS	AC=157;STUDIES=8;MAC=157;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DYM:NM_017653:exon5:c.A421G:p.S141G,;ANNO=splicing:DYM
18	47091686	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LIPG(NM_006033:c.97-1G>A)
18	47317968	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACAA2:NM_006111:exon7:c.G755A:p.G252D,;ANNO=splicing:ACAA2
18	47318522	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ACAA2:NM_006111:exon6:c.G753A:p.S251S,;ANNO=splicing:ACAA2
18	47329223	.	C	T	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACAA2:NM_006111:exon2:c.G17A:p.G6D,;ANNO=splicing:ACAA2
18	47365663	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYO5B:NM_001080467:exon36:c.G4703A:p.G1568D,;ANNO=splicing:MYO5B
18	47369762	.	T	A	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:MYO5B:NM_001080467:exon34:c.A4460T:p.D1487V,;ANNO=splicing:MYO5B
18	47373516	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYO5B:NM_001080467:exon33:c.G4459A:p.D1487N,;ANNO=splicing:MYO5B
18	47406824	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYO5B:NM_001080467:exon23:c.G3047A:p.R1016Q,;ANNO=splicing:MYO5B
18	47406825	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:MYO5B:NM_001080467:exon23:c.C3046T:p.R1016X,;ANNO=splicing:MYO5B
18	47480805	.	C	T	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYO5B:NM_001080467:exon13:c.G1546A:p.V516I,;ANNO=splicing:MYO5B
18	47563221	.	T	C	100	PASS	AC=38;STUDIES=5;MAC=38;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYO5B:NM_001080467:exon4:c.A454G:p.R152G,;ANNO=splicing:MYO5B
18	47581638	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MYO5B:NM_001080467:exon2:c.G138T:p.T46T,;ANNO=splicing:MYO5B
18	47581748	.	A	C	100	PASS	AC=197;STUDIES=14;MAC=197;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYO5B:NM_001080467:exon2:c.T28G:p.C10G,;ANNO=splicing:MYO5B
18	47801500	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MBD1:NM_001204141:exon8:c.C761T:p.P254L,MBD1:NM_001204137:exon10:c.C983T:p.P328L,MBD1:NM_015847:exon8:c.C761T:p.P254L,MBD1:NM_001204142:exon9:c.C908T:p.P303L,MBD1:NM_002384:exon9:c.C908T:p.P303L,MBD1:NM_001204138:exon10:c.C983T:p.P328L,MBD1:NM_015844:exon9:c.C908T:p.P303L,MBD1:NM_001204143:exon9:c.C908T:p.P303L,MBD1:NM_001204151:exon8:c.C908T:p.P303L,MBD1:NM_001204139:exon9:c.C908T:p.P303L,MBD1:NM_015845:exon9:c.C908T:p.P303L,MBD1:NM_015846:exon9:c.C908T:p.P303L,MBD1:NM_001204140:exon10:c.C983T:p.P328L,MBD1:NM_001204136:exon9:c.C908T:p.P303L,;ANNO=splicing:MBD1
18	48327718	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MRO(NM_031939:c.585+1G>T,NM_001127176:c.627+1G>T)
18	48331524	.	G	A	100	PASS	AC=11060;STUDIES=22;MAC=11060;MAF=0.457;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MRO:NM_031939:exon5:c.C429T:p.D143D,MRO:NM_001127175:exon4:c.C471T:p.D157D,MRO:NM_001127174:exon4:c.C429T:p.D143D,MRO:NM_001127176:exon4:c.C471T:p.D157D,;ANNO=splicing:MRO
18	48333222	.	T	C	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MRO(NM_031939:c.99-2A>G,NM_001127175:c.141-2A>G,NM_001127176:c.141-2A>G,NM_001127174:c.99-2A>G)
18	48335773	.	A	G	100	PASS	AC=970;STUDIES=13;MAC=970;MAF=0.064;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:MRO
18	48422179	.	G	T	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=splicing:ME2
18	48443877	.	T	C	100	PASS	AC=19;STUDIES=3;MAC=19;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ME2:NM_001168335:exon6:c.T629C:p.I210T,ME2:NM_002396:exon6:c.T629C:p.I210T,;ANNO=splicing:ME2
18	50683727	.	T	A	100	PASS	AC=574;STUDIES=21;MAC=574;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DCC:NM_005215:exon8:c.T1263A:p.A421A,;ANNO=splicing:DCC
18	50705485	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DCC:NM_005215:exon9:c.G1572A:p.E524E,;ANNO=splicing:DCC
18	50734186	.	C	T	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DCC:NM_005215:exon11:c.C1860T:p.D620D,;ANNO=splicing:DCC
18	50734187	.	G	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DCC:NM_005215:exon11:c.G1861A:p.V621M,;ANNO=splicing:DCC
18	50912508	.	G	A	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DCC:NM_005215:exon16:c.G2455A:p.D819N,;ANNO=splicing:DCC
18	50994265	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DCC:NM_005215:exon25:c.T3621C:p.G1207G,;ANNO=splicing:DCC
18	51908403	.	C	T	100	PASS	AC=1307;STUDIES=2;MAC=569;MAF=0.303;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:C18orf54
18	52596113	.	C	T	100	PASS	AC=62;STUDIES=7;MAC=62;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC68:NM_001143829:exon8:c.G601A:p.E201K,CCDC68:NM_025214:exon8:c.G601A:p.E201K,;ANNO=splicing:CCDC68
18	52605188	.	C	T	100	PASS	AC=4997;STUDIES=22;MAC=4997;MAF=0.206;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CCDC68:NM_001143829:exon5:c.G345A:p.K115K,CCDC68:NM_025214:exon5:c.G345A:p.K115K,;ANNO=splicing:CCDC68
18	54547395	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:WDR7:NM_015285:exon21:c.T3525C:p.T1175T,WDR7:NM_052834:exon20:c.T3426C:p.T1142T,;ANNO=splicing:WDR7
18	55143670	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ONECUT2:NM_004852:exon2:c.G1230A:p.A410A,;ANNO=splicing:ONECUT2
18	55816791	.	G	A	100	PASS	AC=2477;STUDIES=7;MAC=2477;MAF=0.312;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NEDD4L:NM_001144968:exon1:c.G24A:p.Q8Q,NEDD4L:NM_001144969:exon1:c.G24A:p.Q8Q,;ANNO=splicing:NEDD4L
18	56191073	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALPK2:NM_052947:exon8:c.T5630C:p.V1877A,;ANNO=splicing:ALPK2
18	56367823	.	A	G	100	PASS	AC=752;STUDIES=21;MAC=752;MAF=0.033;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MALT1:NM_173844:exon4:c.A649G:p.R217G,MALT1:NM_006785:exon4:c.A649G:p.R217G,;ANNO=splicing:MALT1
18	56390281	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MALT1:NM_173844:exon9:c.G987A:p.A329A,MALT1:NM_006785:exon10:c.G1020A:p.A340A,;ANNO=splicing:MALT1
18	56892947	.	T	C	100	PASS	AC=848;STUDIES=21;MAC=848;MAF=0.036;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GRP:NM_002091:exon2:c.T363C:p.D121D,GRP:NM_001012512:exon2:c.T363C:p.D121D,GRP:NM_001012513:exon2:c.T363C:p.D121D,;ANNO=splicing:GRP
18	57006184	.	C	T	100	PASS	AC=93;STUDIES=6;MAC=93;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LMAN1:NM_005570:exon9:c.G957A:p.A319A,;ANNO=splicing:LMAN1
18	57014746	.	G	A	100	PASS	AC=38;STUDIES=10;MAC=38;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LMAN1:NM_005570:exon7:c.C821T:p.P274L,;ANNO=splicing:LMAN1
18	57020435	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LMAN1:NM_005570:exon5:c.C638T:p.T213I,;ANNO=splicing:LMAN1
18	57103372	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCBE1:NM_133459:exon11:c.G989A:p.G330E,;ANNO=splicing:CCBE1
18	57147471	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCBE1(NM_133459:c.212-1G>A)
18	59174607	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=synonymous:CDH20:NM_031891:exon5:c.A831G:p.K277K,;ANNO=splicing:CDH20
18	59805532	.	T	C	100	PASS	AC=15467;STUDIES=13;MAC=1;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PIGN(NM_012327:c.1116-1A>G,NM_176787:c.1116-1A>G)
18	60241291	.	C	T	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZCCHC2:NM_017742:exon13:c.C1977T:p.D659D,;ANNO=splicing:ZCCHC2
18	60562244	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PHLPP1:NM_194449:exon5:c.G2067A:p.R689R,;ANNO=splicing:PHLPP1
18	61154180	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SERPINB5:NM_002639:exon3:c.T170G:p.V57G,;ANNO=splicing:SERPINB5
18	61260204	.	T	C	100	PASS	AC=17;STUDIES=3;MAC=17;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SERPINB13:NM_012397:exon5:c.T471C:p.N157N,;ANNO=splicing:SERPINB13
18	61379799	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SERPINB11:NM_080475:exon4:c.T229C:p.C77R,;ANNO=splicing:SERPINB11
18	61379929	.	T	A	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SERPINB11(NM_080475:c.357+2T>A)
18	61387389	.	G	A	100	PASS	AC=5016;STUDIES=16;MAC=5016;MAF=0.323;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=synonymous:SERPINB11:NM_080475:exon6:c.G618A:p.E206E,;ANNO=splicing:SERPINB11
18	61390227	.	A	G	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SERPINB11(NM_080475:c.774-2A>G)
18	61584690	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SERPINB10:NM_005024:exon2:c.G169A:p.V57M,;ANNO=splicing:SERPINB10
18	64176484	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDH19(NM_021153:c.1576-1G>A)
18	66564666	.	G	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC102B(NM_001093729:c.1263+1G>T,NM_024781:c.1263+1G>T)
18	67741143	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RTTN:NM_173630:exon34:c.C4652A:p.T1551K,;ANNO=splicing:RTTN
18	70461478	.	C	T	100	PASS	AC=24;STUDIES=8;MAC=24;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NETO1:NM_138966:exon6:c.G513A:p.A171A,NETO1:NM_001201465:exon6:c.G513A:p.A171A,;ANNO=splicing:NETO1
18	70532809	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NETO1:NM_138999:exon1:c.G24A:p.K8K,;ANNO=splicing:NETO1
18	71793336	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FBXO15:NM_152676:exon6:c.A558G:p.R186R,FBXO15:NM_001142958:exon6:c.A786G:p.R262R,;ANNO=splicing:FBXO15
18	71928150	.	C	T	100	PASS	AC=3581;STUDIES=22;MAC=3581;MAF=0.148;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CYB5A:NM_148923:exon3:c.G288A:p.P96P,CYB5A:NM_001914:exon3:c.G288A:p.P96P,;ANNO=splicing:CYB5A
18	72173245	.	C	T	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CNDP2:NM_018235:exon4:c.C366T:p.D122D,;ANNO=splicing:CNDP2
18	74590107	.	C	T	100	PASS	AC=18;STUDIES=11;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF236:NM_007345:exon7:c.C977T:p.T326M,;ANNO=splicing:ZNF236
18	74622617	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZNF236:NM_007345:exon16:c.T2649G:p.G883G,;ANNO=splicing:ZNF236
18	74640061	.	C	T	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF236:NM_007345:exon25:c.C4587T:p.S1529S,;ANNO=splicing:ZNF236
18	76953262	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATP9B:NM_198531:exon9:c.G953A:p.R318K,;ANNO=splicing:ATP9B
18	76953264	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ATP9B(NM_198531:c.954+1G>A)
18	77133899	.	C	G	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ATP9B:NM_198531:exon28:c.C3072G:p.G1024G,;ANNO=splicing:ATP9B
18	77246936	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NFATC1:NM_172387:exon9:c.C2742T:p.D914D,;ANNO=splicing:NFATC1
18	77455308	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CTDP1:NM_048368:exon2:c.A398G:p.Q133R,CTDP1:NM_004715:exon2:c.A398G:p.Q133R,CTDP1:NM_001202504:exon2:c.A41G:p.Q14R,;ANNO=splicing:CTDP1
18	77477536	.	C	T	100	PASS	AC=52;STUDIES=5;MAC=52;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CTDP1:NM_048368:exon9:c.C2070T:p.G690G,CTDP1:NM_004715:exon9:c.C2070T:p.G690G,CTDP1:NM_001202504:exon9:c.C1713T:p.G571G,;ANNO=splicing:CTDP1
18	77664183	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PQLC1:NM_001146343:exon4:c.C338T:p.A113V,;ANNO=splicing:PQLC1
19	282753	.	G	A	100	PASS	AC=10419;STUDIES=22;MAC=10419;MAF=0.429;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PPAP2C:NM_177543:exon4:c.C602T:p.A201V,PPAP2C:NM_177526:exon4:c.C371T:p.A124V,PPAP2C:NM_003712:exon4:c.C539T:p.A180V,;ANNO=splicing:PPAP2C
19	334544	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MIER2(NM_017550:c.100-2A>G)
19	373470	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:THEG:NM_199202:exon3:c.G493A:p.A165T,THEG:NM_016585:exon4:c.G565A:p.A189T,;ANNO=splicing:THEG
19	373531	.	C	T	100	PASS	AC=459;STUDIES=12;MAC=459;MAF=0.033;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:THEG:NM_016585:exon4:c.G504A:p.W168X,;ANNO=splicing:THEG
19	376008	.	C	T	100	PASS	AC=2257;STUDIES=8;MAC=2257;MAF=0.314;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=splicing:THEG
19	436630	.	C	T	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SHC2:NM_012435:exon5:c.G774A:p.T258T,;ANNO=splicing:SHC2
19	474622	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ODF3L2:NM_182577:exon1:c.C126T:p.N42N,;ANNO=splicing:ODF3L2
19	504745	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MADCAM1:NM_130762:exon4:c.C668T:p.A223V,MADCAM1:NM_130760:exon5:c.C929T:p.S310L,;ANNO=splicing:MADCAM1
19	504746	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MADCAM1:NM_130762:exon4:c.G669A:p.A223A,MADCAM1:NM_130760:exon5:c.G930A:p.S310S,;ANNO=splicing:MADCAM1
19	579501	.	C	T	100	PASS	AC=158;STUDIES=16;MAC=158;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BSG:NM_198589:exon2:c.C69T:p.A23A,BSG:NM_001728:exon3:c.C417T:p.P139P,;ANNO=splicing:BSG
19	758726	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C19orf21:NM_173481:exon2:c.G1780A:p.G594S,;ANNO=splicing:C19orf21
19	760041	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C19orf21(NM_173481:c.1911+2T>A)
19	761664	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C19orf21(NM_173481:c.1950+1G>A)
19	806556	.	G	A	100	PASS	AC=15;STUDIES=7;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PTBP1:NM_031991:exon9:c.G1041A:p.E347E,PTBP1:NM_031990:exon10:c.G1098A:p.E366E,PTBP1:NM_002819:exon10:c.G1119A:p.E373E,;ANNO=splicing:PTBP1
19	827904	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AZU1:NM_001700:exon1:c.G58A:p.G20S,;ANNO=splicing:AZU1
19	875245	.	G	A	100	PASS	AC=231;STUDIES=10;MAC=231;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MED16:NM_005481:exon10:c.C1770T:p.V590V,;ANNO=splicing:MED16
19	881560	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MED16:NM_005481:exon7:c.C1140T:p.L380L,;ANNO=splicing:MED16
19	900061	.	C	T	100	PASS	AC=82;STUDIES=5;MAC=82;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C19orf22:NM_138774:exon5:c.G561A:p.M187I,;ANNO=splicing:C19orf22
19	900951	.	A	G	100	PASS	AC=380;STUDIES=18;MAC=380;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C19orf22:NM_138774:exon4:c.T353C:p.V118A,;ANNO=splicing:C19orf22
19	929895	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARID3A:NM_005224:exon2:c.A367G:p.M123V,;ANNO=splicing:ARID3A
19	1041971	.	T	G	100	PASS	AC=14;STUDIES=6;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCA7:NM_019112:exon4:c.T302G:p.L101R,;ANNO=splicing:ABCA7
19	1046404	.	G	A	100	PASS	AC=22;STUDIES=3;MAC=22;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABCA7:NM_019112:exon13:c.G1621A:p.V541M,;ANNO=splicing:ABCA7
19	1047377	.	G	A	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABCA7:NM_019112:exon15:c.G2067A:p.A689A,;ANNO=splicing:ABCA7
19	1051293	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ABCA7:NM_019112:exon20:c.G2824C:p.G942R,;ANNO=splicing:ABCA7
19	1056065	.	A	G	100	PASS	AC=9675;STUDIES=21;MAC=9675;MAF=0.442;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:ABCA7:NM_019112:exon32:c.A4239G:p.R1413R,;ANNO=splicing:ABCA7
19	1056244	.	T	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ABCA7(NM_019112:c.4416+2T>G)
19	1080377	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HMHA1:NM_012292:exon14:c.G1827A:p.R609R,;ANNO=splicing:HMHA1
19	1080681	.	G	A	100	PASS	AC=45;STUDIES=8;MAC=45;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HMHA1:NM_012292:exon16:c.G1913A:p.G638E,;ANNO=splicing:HMHA1
19	1109292	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SBNO2:NM_001100122:exon26:c.G3176T:p.R1059L,SBNO2:NM_014963:exon29:c.G3347T:p.R1116L,;ANNO=splicing:SBNO2
19	1123638	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SBNO2:NM_001100122:exon4:c.G352A:p.E118K,SBNO2:NM_014963:exon7:c.G523A:p.E175K,;ANNO=splicing:SBNO2
19	1234191	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C19orf26:NM_152769:exon7:c.C749T:p.S250L,;ANNO=splicing:C19orf26
19	1255692	.	G	A	100	PASS	AC=14;STUDIES=2;MAC=14;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MIDN:NM_177401:exon7:c.G1128A:p.P376P,;ANNO=splicing:MIDN
19	1272049	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CIRBP:NM_001280:exon6:c.C501T:p.Y167Y,;ANNO=splicing:CIRBP
19	1360136	.	C	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MUM1:NM_032853:exon5:c.C219G:p.A73A,;ANNO=splicing:MUM1
19	1399792	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GAMT:NM_000156:exon2:c.G327A:p.K109K,GAMT:NM_138924:exon2:c.G327A:p.K109K,;ANNO=splicing:GAMT
19	1475258	.	C	G	100	PASS	AC=71;STUDIES=8;MAC=71;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C19orf25(NM_152482:c.130-1G>C)
19	1482476	.	T	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PCSK4(NM_017573:c.1696-2A>C)
19	1487962	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PCSK4(NM_017573:c.516+1G>A)
19	1489895	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PCSK4:NM_017573:exon2:c.T191C:p.I64T,;ANNO=splicing:PCSK4
19	1495387	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:REEP6(NM_138393:c.209+1G>A)
19	1507557	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ADAMTSL5:NM_213604:exon8:c.G687A:p.L229L,;ANNO=splicing:ADAMTSL5
19	1510368	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ADAMTSL5:NM_213604:exon4:c.C251T:p.P84L,;ANNO=splicing:ADAMTSL5
19	1512963	.	G	A	100	PASS	AC=138;STUDIES=2;MAC=138;MAF=0.072;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ADAMTSL5
19	1784944	.	A	G	100	PASS	AC=6967;STUDIES=17;MAC=6967;MAF=0.449;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=4;ANNO=synonymous:ATP8B3:NM_001178002:exon28:c.T3423C:p.Y1141Y,ATP8B3:NM_138813:exon28:c.T3534C:p.Y1178Y,;ANNO=splicing:ATP8B3
19	1796880	.	T	C	100	PASS	AC=20;STUDIES=7;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:ATP8B3(NM_001178002:c.1443-2A>G,NM_138813:c.1584-2A>G)
19	1802044	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATP8B3:NM_001178002:exon12:c.G922A:p.G308S,;ANNO=splicing:ATP8B3(NM_138813:c.1063-1G>A)
19	1923069	.	C	T	100	PASS	AC=19;STUDIES=9;MAC=19;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SCAMP4:NM_079834:exon6:c.C396T:p.C132C,;ANNO=splicing:SCAMP4
19	1979495	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CSNK1G2:NM_001319:exon9:c.G855A:p.E285E,;ANNO=splicing:CSNK1G2
19	2041039	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MKNK2:NM_017572:exon12:c.G1110A:p.G370G,MKNK2:NM_199054:exon12:c.G1110A:p.G370G,;ANNO=splicing:MKNK2
19	2046281	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MKNK2:NM_017572:exon5:c.C243T:p.D81D,MKNK2:NM_199054:exon5:c.C243T:p.D81D,;ANNO=splicing:MKNK2
19	2110222	.	G	A	100	PASS	AC=30;STUDIES=6;MAC=30;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AP3D1:NM_003938:exon26:c.C2991T:p.G997G,AP3D1:NM_001077523:exon27:c.C2868T:p.G956G,;ANNO=splicing:AP3D1
19	2112860	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AP3D1:NM_001077523:exon23:c.A2477G:p.K826R,;ANNO=splicing:AP3D1
19	2130408	.	G	A	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AP3D1:NM_003938:exon6:c.C591T:p.P197P,;ANNO=splicing:AP3D1
19	2191238	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DOT1L:NM_032482:exon5:c.C492T:p.S164S,;ANNO=splicing:DOT1L
19	2234149	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLEKHJ1:NM_018049:exon4:c.G320A:p.S107N,;ANNO=splicing:PLEKHJ1
19	2338839	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPPL2B:NM_001077238:exon4:c.C458T:p.T153M,SPPL2B:NM_152988:exon4:c.C458T:p.T153M,;ANNO=splicing:SPPL2B
19	2345327	.	C	T	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPPL2B:NM_001077238:exon13:c.C1352T:p.S451L,SPPL2B:NM_152988:exon13:c.C1352T:p.S451L,;ANNO=splicing:SPPL2B
19	2351591	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:SPPL2B:NM_152988:exon14:c.C1513T:p.R505X,;ANNO=splicing:SPPL2B
19	2396536	.	G	A	100	PASS	AC=37;STUDIES=9;MAC=37;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMPRSS9(NM_182973:c.142-1G>A)
19	2408628	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TMPRSS9:NM_182973:exon7:c.C1015T:p.L339L,;ANNO=splicing:TMPRSS9
19	2438529	.	G	A	100	PASS	AC=46;STUDIES=15;MAC=46;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LMNB2:NM_032737:exon3:c.C342T:p.S114S,;ANNO=splicing:LMNB2
19	2476401	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GADD45B(NM_015675:c.44+1G>A)
19	2762504	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SGTA:NM_003021:exon7:c.C636T:p.P212P,;ANNO=splicing:SGTA
19	2767683	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SGTA:NM_003021:exon3:c.C102T:p.V34V,;ANNO=splicing:SGTA
19	2827741	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZNF554:NM_001102651:exon3:c.G253C:p.E85Q,;ANNO=splicing:ZNF554
19	2876090	.	G	A	100	PASS	AC=97;STUDIES=15;MAC=97;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF556(NM_024967:c.130-1G>A)
19	3002352	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TLE2:NM_001144762:exon16:c.C1680T:p.C560C,TLE2:NM_001144761:exon19:c.C2088T:p.C696C,TLE2:NM_003260:exon18:c.C2046T:p.C682C,;ANNO=splicing:TLE2
19	3019697	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=synonymous:TLE2:NM_001144762:exon6:c.G204T:p.G68G,TLE2:NM_001144761:exon7:c.G408T:p.G136G,TLE2:NM_003260:exon6:c.G369T:p.G123G,;ANNO=synonymous:TLE2:NM_001144762:exon6:c.G204A:p.G68G,TLE2:NM_001144761:exon7:c.G408A:p.G136G,TLE2:NM_003260:exon6:c.G369A:p.G123G,;ANNO=splicing:TLE2;ANNO=splicing:TLE2
19	3113483	.	G	C	100	PASS	AC=29;STUDIES=2;MAC=29;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:GNA11(NM_002067:c.476+1G>C)
19	3150130	.	A	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GNA15:NM_002068:exon3:c.A332T:p.H111L,;ANNO=splicing:GNA15
19	3192657	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NCLN:NM_020170:exon2:c.G374A:p.R125Q,;ANNO=splicing:NCLN
19	3478418	.	T	C	100	PASS	AC=28;STUDIES=2;MAC=28;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C19orf77:NM_001136503:exon3:c.A238G:p.S80G,;ANNO=splicing:C19orf77
19	3546072	.	G	A	100	PASS	AC=40;STUDIES=10;MAC=40;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C19orf28:NM_001042680:exon8:c.C1289T:p.P430L,C19orf28:NM_174983:exon8:c.C1289T:p.P430L,C19orf28:NM_021731:exon8:c.C1289T:p.P430L,;ANNO=splicing:C19orf28
19	3546254	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C19orf28:NM_001042680:exon7:c.C1193T:p.T398M,C19orf28:NM_174983:exon7:c.C1193T:p.T398M,C19orf28:NM_021731:exon7:c.C1193T:p.T398M,;ANNO=splicing:C19orf28
19	3548122	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C19orf28:NM_001042680:exon3:c.G653A:p.R218Q,C19orf28:NM_174983:exon3:c.G653A:p.R218Q,C19orf28:NM_021731:exon3:c.G653A:p.R218Q,;ANNO=splicing:C19orf28
19	3620705	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C19orf29:NM_021231:exon3:c.G738A:p.K246K,C19orf29:NM_001080543:exon3:c.G738A:p.K246K,;ANNO=splicing:C19orf29
19	3643242	.	T	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PIP5K1C:NM_001195733:exon13:c.A1648G:p.R550G,PIP5K1C:NM_012398:exon13:c.A1648G:p.R550G,;ANNO=splicing:PIP5K1C
19	3643378	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PIP5K1C:NM_001195733:exon13:c.C1512T:p.G504G,PIP5K1C:NM_012398:exon13:c.C1512T:p.G504G,;ANNO=splicing:PIP5K1C
19	3738661	.	A	G	100	PASS	AC=51;STUDIES=15;MAC=51;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TJP3:NM_014428:exon11:c.A1492G:p.I498V,;ANNO=splicing:TJP3
19	3738894	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TJP3(NM_014428:c.1492-1G>C)
19	3751431	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:APBA3(NM_004886:c.1515+1G>T)
19	3753763	.	G	A	100	PASS	AC=18;STUDIES=4;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:APBA3:NM_004886:exon6:c.C1011T:p.D337D,;ANNO=splicing:APBA3
19	3754338	.	A	C	100	PASS	AC=459;STUDIES=8;MAC=459;MAF=0.041;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:APBA3:NM_004886:exon4:c.T617G:p.V206G,;ANNO=splicing:APBA3
19	3759559	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:APBA3:NM_004886:exon3:c.G616A:p.V206M,;ANNO=splicing:APBA3
19	3784824	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MATK:NM_139354:exon2:c.C8T:p.T3M,MATK:NM_002378:exon3:c.C134T:p.T45M,MATK:NM_139355:exon3:c.C131T:p.T44M,;ANNO=splicing:MATK
19	3806125	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZFR2(NM_015174:c.2643-2A>G)
19	3827650	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZFR2:NM_015174:exon6:c.C854T:p.T285I,;ANNO=splicing:ZFR2
19	3833661	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZFR2(NM_015174:c.379+1G>A)
19	3936572	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITGB1BP3(NM_170678:c.26-1G>C)
19	3938599	.	A	C	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITGB1BP3(NM_170678:c.166-2A>C)
19	4033171	.	G	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PIAS4:NM_015897:exon8:c.G981C:p.P327P,;ANNO=splicing:PIAS4
19	4153773	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CREB3L3(NM_032607:c.27+2T>C)
19	4164498	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CREB3L3(NM_032607:c.576-2A>G)
19	4207964	.	C	T	100	PASS	AC=449;STUDIES=16;MAC=449;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ANKRD24:NM_133475:exon10:c.C831T:p.S277S,;ANNO=splicing:ANKRD24
19	4210135	.	G	A	100	PASS	AC=34;STUDIES=9;MAC=34;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ANKRD24:NM_133475:exon12:c.G951A:p.P317P,;ANNO=splicing:ANKRD24
19	4247167	.	C	T	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCDC94:NM_018074:exon1:c.C24T:p.N8N,;ANNO=splicing:CCDC94
19	4306196	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FSD1:NM_024333:exon3:c.C113T:p.A38V,;ANNO=splicing:FSD1
19	4324452	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:STAP2:NM_001013841:exon12:c.G1147A:p.G383R,STAP2:NM_017720:exon12:c.G1285A:p.G429R,;ANNO=splicing:STAP2
19	4327381	.	T	C	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:STAP2:NM_001013841:exon7:c.A592G:p.T198A,STAP2:NM_017720:exon7:c.A592G:p.T198A,;ANNO=splicing:STAP2
19	4353025	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MPND:NM_001159846:exon4:c.G663A:p.P221P,MPND:NM_032868:exon4:c.G663A:p.P221P,;ANNO=splicing:MPND
19	4409756	.	A	G	100	PASS	AC=5054;STUDIES=22;MAC=5054;MAF=0.214;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CHAF1A:NM_005483:exon3:c.A960G:p.R320R,;ANNO=splicing:CHAF1A
19	4429603	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CHAF1A:NM_005483:exon9:c.G1773A:p.T591T,;ANNO=splicing:CHAF1A
19	4475348	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HDGFRP2:NM_001001520:exon2:c.C149T:p.T50I,HDGFRP2:NM_032631:exon2:c.C149T:p.T50I,;ANNO=splicing:HDGFRP2
19	4475579	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HDGFRP2:NM_001001520:exon3:c.C287T:p.P96L,HDGFRP2:NM_032631:exon3:c.C287T:p.P96L,;ANNO=splicing:HDGFRP2
19	4493979	.	C	T	100	PASS	AC=79;STUDIES=14;MAC=79;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HDGFRP2:NM_001001520:exon8:c.C839T:p.A280V,HDGFRP2:NM_032631:exon8:c.C839T:p.A280V,;ANNO=splicing:HDGFRP2
19	4501328	.	G	A	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HDGFRP2:NM_001001520:exon16:c.G1915A:p.D639N,HDGFRP2:NM_032631:exon16:c.G1915A:p.D639N,;ANNO=splicing:HDGFRP2
19	4529086	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PLIN5:NM_001013706:exon5:c.C519T:p.L173L,;ANNO=splicing:PLIN5
19	4529797	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLIN5:NM_001013706:exon4:c.C338T:p.T113M,;ANNO=splicing:PLIN5
19	4550812	.	G	A	100	PASS	AC=18;STUDIES=11;MAC=18;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SEMA6B:NM_032108:exon11:c.C1120T:p.R374W,;ANNO=splicing:SEMA6B
19	4679847	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DPP9:NM_139159:exon21:c.G2586A:p.Q862Q,;ANNO=splicing:DPP9
19	4910889	.	G	T	100	PASS	AC=5019;STUDIES=17;MAC=5019;MAF=0.321;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:UHRF1:NM_013282:exon1:c.G31T:p.A11S,;ANNO=splicing:UHRF1
19	4930729	.	T	C	100	PASS	AC=61;STUDIES=8;MAC=61;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UHRF1:NM_001048201:exon4:c.T410C:p.V137A,UHRF1:NM_013282:exon3:c.T449C:p.V150A,;ANNO=splicing:UHRF1
19	5041262	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KDM4B:NM_015015:exon5:c.C432T:p.D144D,;ANNO=splicing:KDM4B
19	5110828	.	A	C	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KDM4B:NM_015015:exon10:c.A1114C:p.R372R,;ANNO=splicing:KDM4B
19	5273593	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PTPRS:NM_002850:exon4:c.C239T:p.T80M,PTPRS:NM_130855:exon4:c.C239T:p.T80M,PTPRS:NM_130854:exon4:c.C239T:p.T80M,PTPRS:NM_130853:exon4:c.C239T:p.T80M,;ANNO=splicing:PTPRS
19	5657253	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SAFB:NM_002967:exon14:c.C1757T:p.A586V,SAFB:NM_001201338:exon14:c.C1757T:p.A586V,SAFB:NM_001201340:exon13:c.C1550T:p.A517V,SAFB:NM_001201339:exon14:c.C1757T:p.A586V,;ANNO=splicing:SAFB
19	5694911	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LONP1:NM_004793:exon14:c.G2015A:p.R672H,;ANNO=splicing:LONP1
19	5720819	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TMEM146:NM_152784:exon1:c.G71A:p.R24H,;ANNO=splicing:TMEM146
19	5739337	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM146:NM_152784:exon7:c.C460T:p.H154Y,;ANNO=splicing:TMEM146
19	5766112	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM146(NM_152784:c.1506-2A>C)
19	5771084	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM146(NM_152784:c.1763+1G>A)
19	5786760	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DUS3L:NM_001161619:exon8:c.G760A:p.G254R,DUS3L:NM_020175:exon9:c.G1486A:p.G496R,;ANNO=splicing:DUS3L
19	5832589	.	A	C	100	PASS	AC=3378;STUDIES=10;MAC=3378;MAF=0.398;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=splicing:FUT6
19	5867748	.	G	T	100	PASS	AC=4781;STUDIES=10;MAC=3695;MAF=0.436;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=splicing:FUT5
19	5914951	.	C	A	100	PASS	AC=226;STUDIES=8;MAC=226;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CAPS:NM_004058:exon4:c.C262A:p.P88T,CAPS:NM_080590:exon4:c.C262A:p.P88T,;ANNO=splicing:CAPS
19	6040251	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RFX2:NM_000635:exon5:c.C262A:p.R88R,RFX2:NM_134433:exon5:c.C262A:p.R88R,;ANNO=splicing:RFX2
19	6151805	.	G	A	100	PASS	AC=20;STUDIES=10;MAC=20;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACSBG2:NM_030924:exon4:c.G385A:p.G129R,;ANNO=splicing:ACSBG2
19	6156562	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ACSBG2:NM_030924:exon5:c.G507A:p.S169S,;ANNO=splicing:ACSBG2
19	6183048	.	A	G	100	PASS	AC=29;STUDIES=4;MAC=29;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACSBG2(NM_030924:c.1088-2A>G)
19	6187610	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ACSBG2:NM_030924:exon13:c.T1681C:p.C561R,;ANNO=splicing:ACSBG2
19	6381205	.	G	C	100	PASS	AC=43;STUDIES=7;MAC=43;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GTF2F1:NM_002096:exon10:c.C1020G:p.D340E,;ANNO=splicing:GTF2F1
19	6381628	.	T	C	100	PASS	AC=66;STUDIES=13;MAC=66;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GTF2F1(NM_002096:c.836-2A>G)
19	6426574	.	T	C	100	PASS	AC=37;STUDIES=4;MAC=37;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC25A41(NM_173637:c.940-2A>G)
19	6457514	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC25A23:NM_024103:exon3:c.G371A:p.S124N,;ANNO=splicing:SLC25A23
19	6458334	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC25A23:NM_024103:exon2:c.G158A:p.G53D,;ANNO=splicing:SLC25A23
19	6466477	.	C	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:CRB3:NM_174881:exon4:c.C157T:p.R53C,CRB3:NM_139161:exon4:c.C157T:p.R53C,;ANNO=splicing:CRB3
19	6478863	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=synonymous:DENND1C:NM_024898:exon6:c.C297T:p.S99S,;ANNO=splicing:DENND1C
19	6684786	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C3:NM_000064:exon31:c.G4029A:p.S1343S,;ANNO=splicing:C3
19	6710651	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C3:NM_000064:exon13:c.C1685T:p.S562L,;ANNO=splicing:C3
19	6732562	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GPR108(NM_001080452:c.933-2A>G)
19	6733582	.	G	A	100	PASS	AC=98;STUDIES=17;MAC=98;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPR108:NM_001080452:exon8:c.C722T:p.T241M,;ANNO=splicing:GPR108
19	6733923	.	C	A	100	PASS	AC=18;STUDIES=8;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPR108:NM_001080452:exon7:c.G551T:p.G184V,;ANNO=splicing:GPR108
19	6734014	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GPR108(NM_001080452:c.549+2T>C)
19	6741291	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRIP10:NM_004240:exon3:c.A196G:p.K66E,;ANNO=splicing:TRIP10
19	6742979	.	T	C	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRIP10:NM_004240:exon4:c.T199C:p.F67L,;ANNO=splicing:TRIP10
19	6743609	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TRIP10:NM_004240:exon6:c.G513A:p.K171K,;ANNO=splicing:TRIP10
19	6837061	.	T	C	100	PASS	AC=190;STUDIES=21;MAC=190;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:VAV1:NM_005428:exon21:c.T1980C:p.H660H,;ANNO=splicing:VAV1
19	6850767	.	C	T	100	PASS	AC=1402;STUDIES=21;MAC=1402;MAF=0.060;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VAV1:NM_005428:exon24:c.C2216T:p.T739M,;ANNO=splicing:VAV1
19	6854108	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:VAV1:NM_005428:exon26:c.G2483A:p.R828Q,;ANNO=splicing:VAV1
19	6924882	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EMR1:NM_001974:exon15:c.A1985T:p.K662M,;ANNO=splicing:EMR1
19	6926378	.	T	C	100	PASS	AC=6334;STUDIES=20;MAC=6334;MAF=0.304;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:EMR1:NM_001974:exon16:c.T1988C:p.M663T,;ANNO=splicing:EMR1
19	6926611	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EMR1:NM_001974:exon16:c.C2221T:p.R741C,;ANNO=splicing:EMR1
19	6937555	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EMR1:NM_001974:exon20:c.G2551C:p.V851L,;ANNO=splicing:EMR1
19	6937658	.	C	T	100	PASS	AC=97;STUDIES=11;MAC=97;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EMR1:NM_001974:exon20:c.C2654T:p.T885M,;ANNO=splicing:EMR1
19	7075115	.	C	T	100	PASS	AC=39;STUDIES=6;MAC=39;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:ZNF557:NM_001044388:exon3:c.C30T:p.A10A,ZNF557:NM_001044387:exon3:c.C30T:p.A10A,ZNF557:NM_024341:exon3:c.C30T:p.A10A,;ANNO=splicing:ZNF557
19	7167979	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:INSR:NM_000208:exon7:c.C1610T:p.A537V,INSR:NM_001079817:exon7:c.C1610T:p.A537V,;ANNO=splicing:INSR
19	7505367	.	G	A	100	PASS	AC=44;STUDIES=11;MAC=44;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ARHGEF18:NM_015318:exon2:c.G67A:p.G23R,ARHGEF18:NM_001130955:exon1:c.G541A:p.G181R,;ANNO=splicing:ARHGEF18
19	7534790	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ARHGEF18:NM_015318:exon19:c.C2750T:p.A917V,ARHGEF18:NM_001130955:exon18:c.C3224T:p.A1075V,;ANNO=splicing:ARHGEF18
19	7570322	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C19orf45:NM_198534:exon5:c.G895A:p.E299K,;ANNO=splicing:C19orf45
19	7593589	.	C	T	100	PASS	AC=6639;STUDIES=21;MAC=6639;MAF=0.296;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:MCOLN1:NM_020533:exon8:c.C984T:p.N328N,;ANNO=splicing:MCOLN1
19	7601333	.	A	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PNPLA6(NM_006702:c.198-2A>T,NM_001166112:c.198-2A>T,NM_001166111:c.342-2A>T,NM_001166113:c.198-2A>T,NM_001166114:c.315-2A>T)
19	7625995	.	C	T	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PNPLA6:NM_001166111:exon32:c.C3942T:p.D1314D,PNPLA6:NM_001166114:exon30:c.C3912T:p.D1304D,PNPLA6:NM_006702:exon33:c.C3798T:p.D1266D,PNPLA6:NM_001166113:exon33:c.C3798T:p.D1266D,PNPLA6:NM_001166112:exon32:c.C3717T:p.D1239D,;ANNO=splicing:PNPLA6
19	7681508	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1543:NM_001080429:exon16:c.G3293A:p.R1098Q,KIAA1543:NM_020902:exon14:c.G3212A:p.R1071Q,;ANNO=splicing:KIAA1543
19	7710082	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:STXBP2(NM_001127396:c.1237-1G>C,NM_006949:c.1246-1G>C)
19	7734204	.	G	A	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=splicing:RETN;ANNO=splicing:RETN
19	7743869	.	C	T	100	PASS	AC=94;STUDIES=14;MAC=94;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:C19orf59:NM_174918:exon6:c.C547T:p.Q183X,;ANNO=splicing:C19orf59
19	7747129	.	G	C	100	PASS	AC=191;STUDIES=6;MAC=191;MAF=0.057;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=splicing:TRAPPC5
19	7761711	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FCER2:NM_001220500:exon8:c.G469A:p.G157S,FCER2:NM_001207019:exon7:c.G466A:p.G156S,FCER2:NM_002002:exon8:c.G469A:p.G157S,;ANNO=splicing:FCER2
19	7761802	.	T	C	100	PASS	AC=13;STUDIES=7;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FCER2(NM_002002:c.379-2A>G,NM_001207019:c.376-2A>G,NM_001220500:c.379-2A>G)
19	7796656	.	C	T	100	PASS	AC=26;STUDIES=3;MAC=26;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:CLEC4G:NM_198492:exon2:c.G57A:p.G19G,;ANNO=splicing:CLEC4G
19	7828277	.	A	G	100	PASS	AC=73;STUDIES=14;MAC=73;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC4M(NM_001144906:c.46-2A>G,NM_001144909:c.46-2A>G,NM_014257:c.46-2A>G,NM_001144910:c.46-2A>G,NM_001144908:c.46-2A>G,NM_001144907:c.46-2A>G)
19	7830800	.	G	A	100	PASS	AC=70;STUDIES=4;MAC=70;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:CLEC4M:NM_001144904:exon4:c.G338A:p.R113Q,CLEC4M:NM_001144908:exon4:c.G491A:p.R164Q,CLEC4M:NM_001144905:exon5:c.G419A:p.R140Q,CLEC4M:NM_001144910:exon5:c.G422A:p.R141Q,CLEC4M:NM_001144909:exon4:c.G491A:p.R164Q,CLEC4M:NM_001144911:exon3:c.G407A:p.R136Q,CLEC4M:NM_014257:exon4:c.G491A:p.R164Q,CLEC4M:NM_001144907:exon3:c.G428A:p.R143Q,;ANNO=splicing:CLEC4M
19	7830938	.	A	G	100	PASS	AC=151;STUDIES=5;MAC=151;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:CLEC4M:NM_001144904:exon4:c.A476G:p.E159G,CLEC4M:NM_001144905:exon5:c.A557G:p.E186G,CLEC4M:NM_001144910:exon5:c.A560G:p.E187G,CLEC4M:NM_001144911:exon3:c.A545G:p.E182G,CLEC4M:NM_014257:exon4:c.A629G:p.E210G,CLEC4M:NM_001144907:exon3:c.A566G:p.E189G,;ANNO=splicing:CLEC4M(NM_001144909:c.492-2A>G)
19	7998749	.	T	G	100	PASS	AC=49;STUDIES=10;MAC=49;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TIMM44:NM_006351:exon6:c.A683C:p.E228A,;ANNO=splicing:TIMM44
19	8121037	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CCL25:NM_001201359:exon3:c.T75C:p.G25G,CCL25:NM_005624:exon3:c.T75C:p.G25G,;ANNO=splicing:CCL25
19	8151084	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FBN3:NM_032447:exon54:c.G6880A:p.D2294N,;ANNO=splicing:FBN3
19	8151085	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FBN3:NM_032447:exon54:c.C6879T:p.H2293H,;ANNO=splicing:FBN3
19	8154984	.	G	A	100	PASS	AC=518;STUDIES=20;MAC=518;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FBN3:NM_032447:exon48:c.C6183T:p.S2061S,;ANNO=splicing:FBN3
19	8167607	.	C	T	100	PASS	AC=16;STUDIES=3;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FBN3(NM_032447:c.5089+1G>A)
19	8181682	.	G	A	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FBN3:NM_032447:exon28:c.C3588T:p.D1196D,;ANNO=splicing:FBN3
19	8182053	.	C	T	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FBN3:NM_032447:exon27:c.G3586A:p.D1196N,;ANNO=splicing:FBN3
19	8182174	.	G	A	100	PASS	AC=403;STUDIES=18;MAC=403;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FBN3:NM_032447:exon27:c.C3465T:p.D1155D,;ANNO=splicing:FBN3
19	8188892	.	T	A	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FBN3:NM_032447:exon22:c.A2732T:p.D911V,;ANNO=splicing:FBN3
19	8196119	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FBN3:NM_032447:exon15:c.G2044C:p.D682H,;ANNO=splicing:FBN3
19	8321170	.	G	A	100	PASS	AC=21;STUDIES=3;MAC=21;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CERS4:NM_024552:exon7:c.G519A:p.Q173Q,;ANNO=splicing:CERS4
19	8402680	.	G	A	100	PASS	AC=23;STUDIES=5;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KANK3:NM_198471:exon2:c.C33T:p.P11P,;ANNO=splicing:KANK3
19	8436035	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ANGPTL4:NM_001039667:exon4:c.G643A:p.G215S,ANGPTL4:NM_139314:exon5:c.G757A:p.G253S,;ANNO=splicing:ANGPTL4
19	8555109	.	A	G	100	PASS	AC=62;STUDIES=4;MAC=62;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PRAM1:NM_032152:exon10:c.T1977C:p.D659D,;ANNO=splicing:PRAM1
19	8555223	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PRAM1:NM_032152:exon9:c.C1974T:p.C658C,;ANNO=splicing:PRAM1
19	8576420	.	C	A	100	PASS	AC=18;STUDIES=4;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF414:NM_032370:exon6:c.G875T:p.G292V,ZNF414:NM_001146175:exon6:c.G875T:p.G292V,;ANNO=splicing:ZNF414
19	8619539	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYO1F:NM_012335:exon3:c.C230T:p.A77V,;ANNO=splicing:MYO1F
19	8654127	.	G	C	100	PASS	AC=90;STUDIES=16;MAC=90;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ADAMTS10:NM_030957:exon18:c.C2157G:p.A719A,;ANNO=splicing:ADAMTS10
19	8841391	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:OR2Z1:NM_001004699:exon1:c.A1G:p.M1V,;ANNO=splicing:OR2Z1
19	8923238	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZNF558:NM_144693:exon5:c.C425T:p.T142M,;ANNO=splicing:ZNF558
19	8969277	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MUC16:NM_024690:exon79:c.C43067T:p.A14356V,;ANNO=splicing:MUC16
19	8976432	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MUC16:NM_024690:exon75:c.G42396A:p.R14132R,;ANNO=splicing:MUC16
19	8993008	.	G	C	100	PASS	AC=65;STUDIES=4;MAC=65;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:MUC16:NM_024690:exon67:c.C41751G:p.S13917R,;ANNO=splicing:MUC16
19	8997119	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MUC16:NM_024690:exon60:c.A41077G:p.R13693G,;ANNO=splicing:MUC16
19	8999060	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MUC16:NM_024690:exon57:c.G40784T:p.G13595V,;ANNO=splicing:MUC16
19	9000565	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MUC16:NM_024690:exon54:c.C40419T:p.T13473T,;ANNO=splicing:MUC16
19	9006766	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MUC16:NM_024690:exon44:c.C39482T:p.T13161I,;ANNO=splicing:MUC16
19	9082339	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MUC16(NM_024690:c.9475+1G>A)
19	9269503	.	T	G	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZNF317:NM_001190791:exon5:c.T291G:p.D97E,ZNF317:NM_020933:exon6:c.T387G:p.D129E,;ANNO=splicing:ZNF317
19	9490814	.	C	T	100	PASS	AC=14302;STUDIES=22;MAC=9974;MAF=0.411;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF177:NM_001172651:exon5:c.C335T:p.T112M,ZNF177:NM_003451:exon8:c.C335T:p.T112M,ZNF559-ZNF177:NM_001172650:exon11:c.C335T:p.T112M,ZNF559-ZNF177:NM_001202425:exon8:c.C335T:p.T112M,;ANNO=splicing:ZNF177,ZNF559-ZNF177
19	9579009	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF560:NM_152476:exon10:c.C614T:p.A205V,;ANNO=splicing:ZNF560
19	9582054	.	T	C	100	PASS	AC=13;STUDIES=8;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF560:NM_152476:exon6:c.A239G:p.D80G,;ANNO=splicing:ZNF560
19	9584874	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF560(NM_152476:c.157+1G>A)
19	9868152	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZNF846:NM_001077624:exon6:c.G1601A:p.X534X,;ANNO=splicing:ZNF846
19	9869440	.	C	G	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF846:NM_001077624:exon6:c.G313C:p.E105Q,;ANNO=splicing:ZNF846
19	9870535	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF846(NM_001077624:c.312+1G>T)
19	10076990	.	G	C	100	PASS	AC=391;STUDIES=18;MAC=391;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL5A3:NM_015719:exon64:c.C4782G:p.I1594M,;ANNO=splicing:COL5A3
19	10087234	.	C	G	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL5A3:NM_015719:exon45:c.G3342C:p.P1114P,;ANNO=splicing:COL5A3
19	10087906	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL5A3:NM_015719:exon44:c.C3287T:p.A1096V,;ANNO=splicing:COL5A3
19	10088271	.	C	G	100	PASS	AC=8900;STUDIES=21;MAC=8900;MAF=0.379;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:COL5A3:NM_015719:exon42:c.G3125C:p.R1042P,;ANNO=splicing:COL5A3
19	10103700	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL5A3:NM_015719:exon20:c.C1793T:p.P598L,;ANNO=splicing:COL5A3
19	10107292	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL5A3:NM_015719:exon12:c.C1337T:p.P446L,;ANNO=splicing:COL5A3
19	10112346	.	T	C	100	PASS	AC=21388;STUDIES=20;MAC=810;MAF=0.036;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:COL5A3:NM_015719:exon8:c.A964G:p.R322G,;ANNO=splicing:COL5A3
19	10112444	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL5A3:NM_015719:exon7:c.G963A:p.E321E,;ANNO=splicing:COL5A3
19	10221543	.	G	T	100	PASS	AC=9;STUDIES=7;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PPAN(NM_020230:c.1201+1G>T),PPAN-P2RY11(NM_001040664:c.1201+1G>T,NM_001198690:c.1201+1G>T)
19	10226495	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EIF3G:NM_003755:exon9:c.C705T:p.A235A,;ANNO=splicing:EIF3G
19	10274003	.	G	C	100	PASS	AC=51;STUDIES=7;MAC=51;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNMT1:NM_001130823:exon12:c.C925G:p.L309V,DNMT1:NM_001379:exon11:c.C877G:p.L293V,;ANNO=splicing:DNMT1
19	10277275	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DNMT1:NM_001130823:exon11:c.A890G:p.K297R,DNMT1:NM_001379:exon10:c.A842G:p.K281R,;ANNO=splicing:DNMT1
19	10363376	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MRPL4:NM_146388:exon3:c.A274G:p.R92G,MRPL4:NM_146387:exon4:c.A274G:p.R92G,MRPL4:NM_015956:exon3:c.A274G:p.R92G,;ANNO=splicing:MRPL4
19	10449358	.	T	C	100	PASS	AC=4551;STUDIES=21;MAC=4551;MAF=0.203;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:ICAM3:NM_002162:exon2:c.A343G:p.R115G,;ANNO=splicing:ICAM3
19	10491248	.	T	C	100	PASS	AC=47;STUDIES=2;MAC=47;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:TYK2
19	10662797	.	G	C	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATG4D:NM_032885:exon8:c.G1122C:p.E374D,;ANNO=splicing:ATG4D
19	10668446	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KRI1:NM_023008:exon15:c.C1503T:p.P501P,;ANNO=splicing:KRI1
19	10670487	.	G	A	100	PASS	AC=181;STUDIES=9;MAC=181;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KRI1:NM_023008:exon10:c.C944T:p.S315L,;ANNO=splicing:KRI1
19	10685094	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AP1M2:NM_005498:exon11:c.C1248T:p.G416G,;ANNO=splicing:AP1M2
19	10687874	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AP1M2:NM_005498:exon9:c.G1047A:p.P349P,;ANNO=splicing:AP1M2
19	10687875	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AP1M2:NM_005498:exon9:c.C1046T:p.P349L,;ANNO=splicing:AP1M2
19	10691940	.	A	G	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AP1M2(NM_005498:c.673+2T>C)
19	10736346	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC44A2:NM_020428:exon1:c.G37A:p.G13R,;ANNO=splicing:SLC44A2
19	10883303	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DNM2:NM_001190716:exon3:c.C384T:p.H128H,DNM2:NM_004945:exon3:c.C384T:p.H128H,DNM2:NM_001005362:exon3:c.C384T:p.H128H,DNM2:NM_001005360:exon3:c.C384T:p.H128H,DNM2:NM_001005361:exon3:c.C384T:p.H128H,;ANNO=splicing:DNM2
19	11213462	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LDLR:NM_001195803:exon3:c.C313T:p.P105S,LDLR:NM_001195798:exon3:c.C313T:p.P105S,LDLR:NM_000527:exon3:c.C313T:p.P105S,;ANNO=splicing:LDLR
19	11231199	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LDLR(NM_001195798:c.2140+1G>A,NM_001195800:c.1636+1G>A,NM_001195799:c.2017+1G>A,NM_001195802:c.1777+1G>A,NM_000527:c.2140+1G>A)
19	11258570	.	C	T	100	PASS	AC=29;STUDIES=5;MAC=29;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SPC24:NM_182513:exon4:c.G411A:p.V137V,;ANNO=splicing:SPC24
19	11283798	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KANK2:NM_001136191:exon10:c.T2070C:p.G690G,KANK2:NM_015493:exon8:c.T2094C:p.G698G,;ANNO=splicing:KANK2
19	11285149	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KANK2:NM_001136191:exon9:c.G2068A:p.G690S,KANK2:NM_015493:exon7:c.G2092A:p.G698S,;ANNO=splicing:KANK2
19	11285150	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KANK2:NM_001136191:exon9:c.C2067T:p.S689S,KANK2:NM_015493:exon7:c.C2091T:p.S697S,;ANNO=splicing:KANK2
19	11289022	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KANK2:NM_001136191:exon6:c.G1519A:p.G507R,KANK2:NM_015493:exon4:c.G1543A:p.G515R,;ANNO=splicing:KANK2
19	11311390	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DOCK6(NM_020812:c.5939+2T>C)
19	11325084	.	G	A	100	PASS	AC=44;STUDIES=6;MAC=44;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DOCK6:NM_020812:exon34:c.C4205T:p.T1402M,;ANNO=splicing:DOCK6
19	11325229	.	C	T	100	PASS	AC=423;STUDIES=13;MAC=423;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DOCK6:NM_020812:exon33:c.G4203A:p.Q1401Q,;ANNO=splicing:DOCK6
19	11327908	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DOCK6:NM_020812:exon29:c.C3710T:p.T1237M,;ANNO=splicing:DOCK6
19	11363634	.	C	T	100	PASS	AC=36;STUDIES=15;MAC=36;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DOCK6:NM_020812:exon3:c.G133A:p.V45I,;ANNO=splicing:DOCK6
19	11462808	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC159:NM_001080503:exon7:c.A566G:p.K189R,;ANNO=splicing:CCDC159
19	11465372	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC159:NM_001080503:exon10:c.G889A:p.A297T,;ANNO=splicing:CCDC159
19	11465373	.	G	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC159(NM_001080503:c.889+1G>T)
19	11510877	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RGL3(NM_001161616:c.1580+1G>A,NM_001035223:c.1580+1G>A)
19	11512809	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RGL3(NM_001161616:c.1362-1G>A,NM_001035223:c.1362-1G>A)
19	11515824	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RGL3:NM_001161616:exon9:c.A1184T:p.Q395L,RGL3:NM_001035223:exon9:c.A1184T:p.Q395L,;ANNO=splicing:RGL3
19	11527511	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RGL3:NM_001161616:exon3:c.G370A:p.G124R,RGL3:NM_001035223:exon3:c.G370A:p.G124R,;ANNO=splicing:RGL3
19	11531272	.	T	G	100	PASS	AC=1772;STUDIES=3;MAC=110;MAF=0.058;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:CCDC151
19	11537603	.	G	A	100	PASS	AC=513;STUDIES=21;MAC=513;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC151:NM_145045:exon5:c.C614T:p.T205I,;ANNO=splicing:CCDC151
19	11546269	.	G	A	100	PASS	AC=99;STUDIES=2;MAC=99;MAF=0.050;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=splicing:PRKCSH
19	11558539	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PRKCSH:NM_002743:exon12:c.C1040T:p.P347L,PRKCSH:NM_001001329:exon12:c.C1031T:p.P344L,;ANNO=splicing:PRKCSH
19	11618518	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ECSIT:NM_001142465:exon4:c.G302T:p.R101M,ECSIT:NM_016581:exon6:c.G944T:p.R315M,;ANNO=splicing:ECSIT
19	11888552	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:ZNF441:NM_152355:exon2:c.G130A:p.G44R,;ANNO=splicing:ZNF441
19	11977147	.	G	A	100	PASS	AC=244;STUDIES=7;MAC=244;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:ZNF439(NM_152262:c.175+1G>A)
19	11977353	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZNF439:NM_152262:exon2:c.A177G:p.G59G,;ANNO=splicing:ZNF439
19	11998802	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:ZNF69(NM_021915:c.63+1G>A)
19	12015703	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:ZNF69(NM_021915:c.448+1G>A)
19	12058390	.	G	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF700(NM_144566:c.251+1G>A)
19	12385848	.	C	G	100	PASS	AC=534;STUDIES=18;MAC=534;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF44:NM_016264:exon3:c.G131C:p.G44A,ZNF44:NM_001164276:exon4:c.G275C:p.G92A,;ANNO=splicing:ZNF44
19	12503477	.	C	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:ZNF799:NM_001080821:exon3:c.G131T:p.G44V,;ANNO=splicing:ZNF799
19	12543251	.	A	C	100	PASS	AC=163;STUDIES=6;MAC=163;MAF=0.049;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=3;ANNO=nonsynonymous:ZNF443:NM_005815:exon3:c.T131G:p.V44G,;ANNO=splicing:ZNF443
19	12693723	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF490:NM_020714:exon4:c.G291A:p.G97G,;ANNO=splicing:ZNF490
19	12766507	.	C	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MAN2B1(NM_000528:c.1830+1G>C,NM_001173498:c.1827+1G>C)
19	12776338	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MAN2B1:NM_000528:exon3:c.C264A:p.I88I,MAN2B1:NM_001173498:exon3:c.C264A:p.I88I,;ANNO=splicing:MAN2B1
19	12786830	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DHPS(NM_013406:c.873+1G>A,NM_001930:c.1014+1G>A,NM_001206974:c.888+1G>A)
19	12814529	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TNPO2:NM_001136196:exon18:c.C2109T:p.I703I,TNPO2:NM_013433:exon18:c.C2109T:p.I703I,TNPO2:NM_001136195:exon19:c.C2109T:p.I703I,;ANNO=splicing:TNPO2
19	12867109	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BEST2:NM_017682:exon8:c.C1103T:p.T368M,;ANNO=splicing:BEST2
19	12874481	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HOOK2(NM_001100176:c.1932+1G>A,NM_013312:c.1938+1G>A)
19	12881746	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HOOK2:NM_001100176:exon10:c.G902A:p.R301Q,HOOK2:NM_013312:exon10:c.G902A:p.R301Q,;ANNO=splicing:HOOK2
19	12918142	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RNASEH2A:NM_006397:exon3:c.C322G:p.R108G,;ANNO=splicing:RNASEH2A
19	12920886	.	T	G	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RNASEH2A:NM_006397:exon5:c.T413G:p.V138G,;ANNO=splicing:RNASEH2A
19	12945599	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RTBDN:NM_031429:exon2:c.G78A:p.E26E,;ANNO=splicing:RTBDN
19	12963143	.	T	C	100	PASS	AC=7855;STUDIES=22;MAC=7855;MAF=0.323;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MAST1:NM_014975:exon10:c.T1011C:p.D337D,;ANNO=splicing:MAST1
19	13010934	.	G	C	100	PASS	AC=18;STUDIES=3;MAC=18;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYCE2:NM_001105578:exon5:c.C496G:p.Q166E,;ANNO=splicing:SYCE2
19	13049415	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:CALR
19	13049948	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CALR:NM_004343:exon2:c.A92G:p.D31G,;ANNO=splicing:CALR
19	13051058	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CALR:NM_004343:exon5:c.A494G:p.D165G,;ANNO=splicing:CALR
19	13059626	.	C	T	100	PASS	AC=176;STUDIES=17;MAC=176;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RAD23A:NM_005053:exon5:c.C599T:p.T200M,;ANNO=splicing:RAD23A
19	13220196	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRMT1:NM_017722:exon11:c.C1396T:p.R466W,TRMT1:NM_001136035:exon12:c.C1396T:p.R466W,TRMT1:NM_001142554:exon10:c.C1309T:p.R437W,;ANNO=splicing:TRMT1
19	13220653	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRMT1(NM_017722:c.1106-1G>A,NM_001142554:c.1019-1G>A,NM_001136035:c.1106-1G>A)
19	13226094	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRMT1:NM_017722:exon4:c.C640T:p.R214W,TRMT1:NM_001136035:exon5:c.C640T:p.R214W,TRMT1:NM_001142554:exon4:c.C640T:p.R214W,;ANNO=splicing:TRMT1
19	13255390	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:STX10(NM_003765:c.673+1G>T)
19	13394081	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CACNA1A:NM_001174080:exon22:c.C3825T:p.N1275N,CACNA1A:NM_001127221:exon22:c.C3825T:p.N1275N,CACNA1A:NM_023035:exon22:c.C3834T:p.N1278N,CACNA1A:NM_001127222:exon22:c.C3822T:p.N1274N,CACNA1A:NM_000068:exon22:c.C3834T:p.N1278N,;ANNO=splicing:CACNA1A
19	13476282	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CACNA1A:NM_001174080:exon5:c.T633C:p.S211S,CACNA1A:NM_001127221:exon5:c.T633C:p.S211S,CACNA1A:NM_023035:exon5:c.T633C:p.S211S,CACNA1A:NM_001127222:exon5:c.T633C:p.S211S,CACNA1A:NM_000068:exon5:c.T633C:p.S211S,;ANNO=splicing:CACNA1A
19	13865157	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC130(NM_030818:c.57+1G>A)
19	13879261	.	G	A	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MRI1:NM_032285:exon3:c.G460A:p.E154K,;ANNO=splicing:MRI1
19	13928535	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZSWIM4(NM_023072:c.1318-1G>C)
19	13993764	.	G	A	100	PASS	AC=125;STUDIES=14;MAC=125;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:C19orf57:NM_024323:exon8:c.C1765T:p.R589W,;ANNO=splicing:C19orf57
19	14015676	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C19orf57:NM_024323:exon2:c.A30G:p.S10S,;ANNO=splicing:C19orf57
19	14023342	.	C	T	100	PASS	AC=18;STUDIES=7;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CC2D1A:NM_017721:exon4:c.C314T:p.A105V,;ANNO=splicing:CC2D1A
19	14031368	.	A	C	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CC2D1A(NM_017721:c.1356-2A>C)
19	14038842	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CC2D1A:NM_017721:exon23:c.C2453T:p.T818I,;ANNO=splicing:CC2D1A
19	14046533	.	C	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PODNL1(NM_001146254:c.509+1G>T,NM_024825:c.515+1G>T)
19	14071753	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DCAF15:NM_138353:exon13:c.G1749C:p.G583G,;ANNO=splicing:DCAF15
19	14083555	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RFX1:NM_002918:exon9:c.G1314A:p.T438T,;ANNO=splicing:RFX1
19	14153424	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IL27RA:NM_004843:exon5:c.G694T:p.A232S,;ANNO=splicing:IL27RA
19	14199788	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SAMD1:NM_138352:exon3:c.C932T:p.A311V,;ANNO=splicing:SAMD1
19	14499629	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CD97:NM_001025160:exon3:c.A189T:p.Q63H,CD97:NM_078481:exon3:c.A189T:p.Q63H,CD97:NM_001784:exon3:c.A189T:p.E63D,;ANNO=splicing:CD97
19	14508875	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CD97:NM_001025160:exon8:c.C674T:p.A225V,CD97:NM_078481:exon9:c.C821T:p.A274V,CD97:NM_001784:exon7:c.C542T:p.A181V,;ANNO=splicing:CD97
19	14562835	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PKN1:NM_213560:exon7:c.A1183C:p.S395R,PKN1:NM_002741:exon7:c.A1165C:p.S389R,;ANNO=splicing:PKN1
19	14580328	.	A	G	100	PASS	AC=2015;STUDIES=21;MAC=2015;MAF=0.093;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:PKN1:NM_213560:exon16:c.A2170G:p.I724V,PKN1:NM_002741:exon16:c.A2152G:p.I718V,;ANNO=splicing:PKN1
19	14580329	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:PKN1:NM_213560:exon16:c.T2171C:p.I724T,PKN1:NM_002741:exon16:c.T2153C:p.I718T,;ANNO=splicing:PKN1
19	14589378	.	C	T	100	PASS	AC=4906;STUDIES=21;MAC=4906;MAF=0.221;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:GIPC1:NM_202470:exon7:c.G852A:p.A284A,GIPC1:NM_202469:exon7:c.G561A:p.A187A,GIPC1:NM_202468:exon8:c.G852A:p.A284A,GIPC1:NM_202494:exon6:c.G561A:p.A187A,GIPC1:NM_005716:exon9:c.G852A:p.A284A,GIPC1:NM_202467:exon8:c.G561A:p.A187A,;ANNO=splicing:GIPC1
19	14674068	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:TECR:NM_138501:exon3:c.C117G:p.T39T,;ANNO=synonymous:TECR:NM_138501:exon3:c.C117T:p.T39T,;ANNO=splicing:TECR;ANNO=splicing:TECR
19	14705363	.	T	C	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC17A(NM_001204118:c.310+2T>C,NM_207390:c.310+2T>C)
19	14706126	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CLEC17A:NM_207390:exon8:c.C444T:p.A148A,CLEC17A:NM_001204118:exon8:c.C444T:p.A148A,;ANNO=splicing:CLEC17A
19	14706128	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC17A(NM_001204118:c.445+1G>A,NM_207390:c.445+1G>A)
19	14772775	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EMR3:NM_032571:exon4:c.G355C:p.D119H,;ANNO=splicing:EMR3
19	14774230	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EMR3:NM_032571:exon3:c.G199A:p.D67N,;ANNO=splicing:EMR3
19	14815981	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF333:NM_032433:exon6:c.C422T:p.T141M,;ANNO=splicing:ZNF333
19	14826194	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZNF333:NM_032433:exon8:c.C512T:p.A171V,;ANNO=splicing:ZNF333
19	14829040	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZNF333:NM_032433:exon12:c.G901C:p.E301Q,;ANNO=splicing:ZNF333
19	14854231	.	C	T	100	PASS	AC=7;STUDIES=7;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:EMR2(NM_152920:c.2283+1G>A,NM_152919:c.2430+1G>A,NM_152918:c.2037+1G>A,NM_152917:c.2184+1G>A,NM_152916:c.2316+1G>A,NM_152921:c.2151+1G>A,NM_013447:c.2463+1G>A)
19	14854232	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=synonymous:EMR2:NM_152920:exon19:c.G2283A:p.T761T,EMR2:NM_152919:exon20:c.G2430A:p.T810T,EMR2:NM_152917:exon18:c.G2184A:p.T728T,EMR2:NM_152918:exon17:c.G2037A:p.T679T,EMR2:NM_013447:exon20:c.G2463A:p.T821T,EMR2:NM_152916:exon19:c.G2316A:p.T772T,EMR2:NM_152921:exon18:c.G2151A:p.T717T,;ANNO=splicing:EMR2
19	14854233	.	G	A	100	PASS	AC=172;STUDIES=16;MAC=172;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EMR2:NM_152920:exon19:c.C2282T:p.T761M,EMR2:NM_152919:exon20:c.C2429T:p.T810M,EMR2:NM_152917:exon18:c.C2183T:p.T728M,EMR2:NM_152918:exon17:c.C2036T:p.T679M,EMR2:NM_013447:exon20:c.C2462T:p.T821M,EMR2:NM_152916:exon19:c.C2315T:p.T772M,EMR2:NM_152921:exon18:c.C2150T:p.T717M,;ANNO=splicing:EMR2
19	14862247	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:EMR2(NM_152920:c.1844+1G>A,NM_152919:c.1991+1G>A,NM_152918:c.1598+1G>A,NM_152917:c.1745+1G>A,NM_152916:c.1877+1G>A,NM_152921:c.1712+1G>A,NM_013447:c.2024+1G>A)
19	14866467	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EMR2:NM_152920:exon12:c.G1235A:p.R412H,EMR2:NM_152919:exon13:c.G1382A:p.R461H,EMR2:NM_152917:exon11:c.G1136A:p.R379H,EMR2:NM_152918:exon10:c.G989A:p.R330H,EMR2:NM_013447:exon13:c.G1415A:p.R472H,EMR2:NM_152916:exon12:c.G1268A:p.R423H,EMR2:NM_152921:exon11:c.G1103A:p.R368H,;ANNO=splicing:EMR2
19	14883309	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:EMR2:NM_152920:exon5:c.A200T:p.D67V,EMR2:NM_152919:exon5:c.A200T:p.D67V,EMR2:NM_152917:exon5:c.A200T:p.D67V,EMR2:NM_152918:exon5:c.A200T:p.D67V,EMR2:NM_013447:exon5:c.A200T:p.D67V,EMR2:NM_152916:exon5:c.A200T:p.D67V,EMR2:NM_152921:exon5:c.A200T:p.D67V,;ANNO=splicing:EMR2
19	14884751	.	G	A	100	PASS	AC=1154;STUDIES=22;MAC=1154;MAF=0.048;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:EMR2:NM_152920:exon4:c.C198T:p.D66D,EMR2:NM_152919:exon4:c.C198T:p.D66D,EMR2:NM_152917:exon4:c.C198T:p.D66D,EMR2:NM_152918:exon4:c.C198T:p.D66D,EMR2:NM_013447:exon4:c.C198T:p.D66D,EMR2:NM_152916:exon4:c.C198T:p.D66D,EMR2:NM_152921:exon4:c.C198T:p.D66D,;ANNO=splicing:EMR2
19	15132731	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CCDC105:NM_173482:exon6:c.G1251A:p.Q417Q,;ANNO=splicing:CCDC105
19	15163018	.	A	G	100	PASS	AC=22;STUDIES=2;MAC=22;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:CASP14
19	15164442	.	G	A	100	PASS	AC=27;STUDIES=10;MAC=27;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CASP14:NM_012114:exon3:c.G177A:p.E59E,;ANNO=splicing:CASP14
19	15166242	.	A	G	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CASP14:NM_012114:exon6:c.A522G:p.G174G,;ANNO=splicing:CASP14
19	15230229	.	C	T	100	PASS	AC=31;STUDIES=7;MAC=31;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ILVBL:NM_006844:exon8:c.G914A:p.R305Q,;ANNO=splicing:ILVBL
19	15230230	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ILVBL:NM_006844:exon8:c.C913T:p.R305W,;ANNO=splicing:ILVBL
19	15235879	.	A	G	100	PASS	AC=99;STUDIES=6;MAC=99;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:ILVBL
19	15285211	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NOTCH3:NM_000435:exon25:c.C4404T:p.N1468N,;ANNO=splicing:NOTCH3
19	15300085	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NOTCH3:NM_000435:exon7:c.C1191T:p.I397I,;ANNO=splicing:NOTCH3
19	15308388	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NOTCH3:NM_000435:exon2:c.C120G:p.A40A,;ANNO=splicing:NOTCH3
19	15349554	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BRD4:NM_058243:exon19:c.C4020T:p.A1340A,;ANNO=splicing:BRD4
19	15353712	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BRD4:NM_058243:exon14:c.C3168T:p.T1056T,;ANNO=splicing:BRD4
19	15471788	.	C	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:AKAP8:NM_005858:exon12:c.G1398T:p.G466G,;ANNO=splicing:AKAP8
19	15480990	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:AKAP8:NM_005858:exon8:c.G1039A:p.E347K,;ANNO=splicing:AKAP8
19	15733149	.	G	C	100	PASS	AC=17;STUDIES=6;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:CYP4F8:NM_007253:exon6:c.G645C:p.R215S,;ANNO=splicing:CYP4F8
19	15756530	.	T	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CYP4F3:NM_000896:exon3:c.T200A:p.I67N,;ANNO=splicing:CYP4F3
19	15758134	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CYP4F3:NM_001199209:exon5:c.T525C:p.H175H,CYP4F3:NM_000896:exon5:c.T525C:p.H175H,CYP4F3:NM_001199208:exon5:c.T525C:p.H175H,;ANNO=splicing:CYP4F3
19	15791203	.	A	G	100	PASS	AC=60;STUDIES=4;MAC=60;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:CYP4F12:NM_023944:exon5:c.A399G:p.G133G,;ANNO=splicing:CYP4F12
19	15795693	.	G	A	100	PASS	AC=37;STUDIES=4;MAC=37;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:CYP4F12(NM_023944:c.985+1G>A)
19	15807984	.	G	A	100	PASS	AC=337;STUDIES=3;MAC=337;MAF=0.163;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:CYP4F12
19	16338360	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AP1M1:NM_001130524:exon8:c.C711T:p.R237R,AP1M1:NM_032493:exon7:c.C675T:p.R225R,;ANNO=splicing:AP1M1
19	16631318	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:CHERP:NM_006387:exon14:c.C2202T:p.S734S,;ANNO=nonsynonymous:CHERP:NM_006387:exon14:c.C2202A:p.S734R,;ANNO=splicing:CHERP;ANNO=splicing:CHERP
19	16643822	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CHERP:NM_006387:exon4:c.G522A:p.S174S,;ANNO=splicing:CHERP
19	16689144	.	A	G	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MED26(NM_004831:c.147+2T>C)
19	16764936	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C19orf42:NM_024104:exon4:c.G122A:p.G41D,;ANNO=splicing:C19orf42
19	16908698	.	G	A	100	PASS	AC=35;STUDIES=3;MAC=35;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NWD1(NM_001007525:c.3459+1G>A)
19	17085907	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CPAMD8:NM_015692:exon17:c.C2211T:p.T737T,;ANNO=splicing:CPAMD8
19	17119315	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CPAMD8:NM_015692:exon7:c.G700A:p.G234S,;ANNO=splicing:CPAMD8
19	17173588	.	G	A	100	PASS	AC=189;STUDIES=9;MAC=189;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HAUS8:NM_001011699:exon4:c.C149T:p.A50V,HAUS8:NM_033417:exon4:c.C149T:p.A50V,;ANNO=splicing:HAUS8
19	17291736	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MYO9B:NM_001130065:exon15:c.C2220T:p.R740R,MYO9B:NM_004145:exon15:c.C2220T:p.R740R,;ANNO=splicing:MYO9B
19	17312735	.	A	G	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:MYO9B:NM_001130065:exon27:c.A4564C:p.I1522L,MYO9B:NM_004145:exon27:c.A4564C:p.I1522L,;ANNO=nonsynonymous:MYO9B:NM_001130065:exon27:c.A4564G:p.I1522V,MYO9B:NM_004145:exon27:c.A4564G:p.I1522V,;ANNO=splicing:MYO9B;ANNO=splicing:MYO9B
19	17312833	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MYO9B:NM_001130065:exon27:c.G4662C:p.P1554P,MYO9B:NM_004145:exon27:c.G4662C:p.P1554P,;ANNO=splicing:MYO9B
19	17337802	.	G	A	100	PASS	AC=81;STUDIES=7;MAC=81;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:OCEL1(NM_024578:c.246-1G>A);ANNO=splicing:OCEL1(NM_024578:c.246-1G>T)
19	17361222	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:USHBP1:NM_031941:exon13:c.G1924C:p.A642P,;ANNO=nonsynonymous:USHBP1:NM_031941:exon13:c.G1924A:p.A642T,;ANNO=splicing:USHBP1;ANNO=splicing:USHBP1
19	17361223	.	G	A	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:USHBP1:NM_031941:exon13:c.C1923T:p.S641S,;ANNO=splicing:USHBP1
19	17369020	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:USHBP1(NM_031941:c.1220+1G>T)
19	17375055	.	G	A	100	PASS	AC=24;STUDIES=4;MAC=24;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:USHBP1:NM_031941:exon2:c.C54T:p.P18P,;ANNO=splicing:USHBP1
19	17382463	.	G	A	100	PASS	AC=32;STUDIES=9;MAC=32;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BABAM1:NM_001033549:exon3:c.G343A:p.G115S,BABAM1:NM_014173:exon3:c.G343A:p.G115S,;ANNO=splicing:BABAM1
19	17394770	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ANKLE1:NM_152363:exon5:c.T1197G:p.P399P,;ANNO=splicing:ANKLE1
19	17450074	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GTPBP3:NM_032620:exon6:c.C807T:p.L269L,GTPBP3:NM_001128855:exon6:c.C807T:p.L269L,GTPBP3:NM_133644:exon5:c.C903T:p.L301L,GTPBP3:NM_001195422:exon6:c.C873T:p.L291L,;ANNO=splicing:GTPBP3
19	17452130	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GTPBP3:NM_032620:exon8:c.G1252A:p.V418M,GTPBP3:NM_001128855:exon8:c.G1189A:p.V397M,GTPBP3:NM_133644:exon7:c.G1348A:p.V450M,GTPBP3:NM_001195422:exon8:c.G1318A:p.V440M,;ANNO=splicing:GTPBP3
19	17452287	.	G	C	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GTPBP3:NM_032620:exon9:c.G1254C:p.V418V,GTPBP3:NM_001128855:exon9:c.G1191C:p.V397V,GTPBP3:NM_133644:exon8:c.G1350C:p.V450V,GTPBP3:NM_001195422:exon9:c.G1320C:p.V440V,;ANNO=splicing:GTPBP3
19	17535431	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM125A:NM_138401:exon8:c.C704T:p.A235V,;ANNO=splicing:FAM125A
19	17597765	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC27A1:NM_198580:exon2:c.G561A:p.A187A,;ANNO=splicing:SLC27A1
19	17648350	.	T	C	100	PASS	AC=21559;STUDIES=20;MAC=949;MAF=0.042;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM129C(NM_173544:c.685+1T>C,NM_001098524:c.685+1T>C)
19	17651201	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM129C:NM_173544:exon10:c.C1073T:p.T358M,FAM129C:NM_001098524:exon10:c.C1073T:p.T358M,;ANNO=splicing:FAM129C
19	17722663	.	G	A	100	PASS	AC=16;STUDIES=6;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UNC13A:NM_001080421:exon40:c.C4560T:p.G1520G,;ANNO=splicing:UNC13A
19	17735631	.	G	A	100	PASS	AC=184;STUDIES=9;MAC=184;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UNC13A(NM_001080421:c.4203+1C>T)
19	17749893	.	G	A	100	PASS	AC=94;STUDIES=15;MAC=94;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UNC13A:NM_001080421:exon24:c.C3080T:p.P1027L,;ANNO=splicing:UNC13A
19	17763441	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UNC13A:NM_001080421:exon12:c.G1438A:p.G480S,;ANNO=splicing:UNC13A
19	17783304	.	G	A	100	PASS	AC=11;STUDIES=8;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:UNC13A:NM_001080421:exon4:c.C153T:p.F51F,;ANNO=splicing:UNC13A
19	17881602	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FCHO1:NM_001161359:exon7:c.C341T:p.A114V,FCHO1:NM_001161358:exon8:c.C491T:p.A164V,FCHO1:NM_015122:exon9:c.C491T:p.A164V,FCHO1:NM_001161357:exon9:c.C491T:p.A164V,;ANNO=splicing:FCHO1
19	17885049	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FCHO1:NM_001161359:exon10:c.A642G:p.G214G,FCHO1:NM_001161358:exon11:c.A792G:p.G264G,FCHO1:NM_015122:exon12:c.A792G:p.G264G,FCHO1:NM_001161357:exon12:c.A792G:p.G264G,;ANNO=splicing:FCHO1
19	17885204	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FCHO1:NM_001161359:exon11:c.G687A:p.A229A,FCHO1:NM_001161358:exon12:c.G837A:p.A279A,FCHO1:NM_015122:exon13:c.G837A:p.A279A,FCHO1:NM_001161357:exon13:c.G837A:p.A279A,;ANNO=splicing:FCHO1
19	17899080	.	T	C	100	PASS	AC=81;STUDIES=5;MAC=81;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FCHO1:NM_001161357:exon29:c.T2649C:p.A883A,;ANNO=splicing:FCHO1
19	17955043	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:JAK3:NM_000215:exon2:c.G184A:p.G62S,;ANNO=splicing:JAK3
19	17955044	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:JAK3:NM_000215:exon2:c.C183T:p.S61S,;ANNO=splicing:JAK3
19	18188327	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:IL12RB1:NM_153701:exon5:c.T548C:p.L183S,IL12RB1:NM_005535:exon5:c.T548C:p.L183S,;ANNO=splicing:IL12RB1
19	18232582	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MAST3:NM_015016:exon3:c.G159A:p.T53T,;ANNO=splicing:MAST3
19	18245791	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MAST3:NM_015016:exon16:c.C1782T:p.S594S,;ANNO=splicing:MAST3
19	18272777	.	A	T	100	PASS	AC=11;STUDIES=9;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PIK3R2:NM_005027:exon7:c.A817T:p.S273C,;ANNO=splicing:PIK3R2
19	18273013	.	G	A	100	PASS	AC=886;STUDIES=20;MAC=886;MAF=0.042;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PIK3R2:NM_005027:exon8:c.G903A:p.A301A,;ANNO=splicing:PIK3R2
19	18385214	.	T	C	100	PASS	AC=359;STUDIES=2;MAC=359;MAF=0.191;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:KIAA1683
19	18538708	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SSBP4:NM_032627:exon4:c.C195T:p.C65C,SSBP4:NM_001009998:exon4:c.C195T:p.C65C,;ANNO=splicing:SSBP4
19	18569016	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ELL:NM_006532:exon6:c.C868T:p.R290W,;ANNO=splicing:ELL
19	18853719	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CRTC1(NM_015321:c.126-1G>A,NM_001098482:c.126-1G>A)
19	18896776	.	G	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COMP:NM_000095:exon13:c.C1488A:p.D496E,;ANNO=splicing:COMP
19	19004225	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CERS1:NM_021267:exon2:c.G409A:p.D137N,CERS1:NM_198207:exon2:c.G409A:p.D137N,;ANNO=splicing:CERS1,GDF1
19	19035508	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DDX49:NM_019070:exon8:c.G929A:p.R310Q,;ANNO=splicing:DDX49
19	19042434	.	C	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HOMER3:NM_001145721:exon8:c.G691C:p.V231L,HOMER3:NM_001145722:exon8:c.G691C:p.V231L,HOMER3:NM_001145724:exon6:c.G583C:p.V195L,HOMER3:NM_004838:exon8:c.G691C:p.V231L,;ANNO=splicing:HOMER3
19	19105294	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SUGP2:NM_014884:exon10:c.G3130A:p.G1044R,SUGP2:NM_001017392:exon10:c.G3130A:p.G1044R,;ANNO=splicing:SUGP2
19	19212591	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC25A42:NM_178526:exon3:c.G83A:p.R28H,;ANNO=splicing:SLC25A42
19	19218853	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC25A42:NM_178526:exon7:c.A648C:p.R216S,;ANNO=splicing:SLC25A42
19	19231672	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMEM161A(NM_017814:c.1089-2A>G)
19	19257551	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:MEF2BNB-MEF2B:NM_005919:exon8:c.C675T:p.S225S,MEF2B:NM_001145785:exon6:c.C675T:p.S225S,;ANNO=synonymous:MEF2BNB-MEF2B:NM_005919:exon8:c.C675A:p.S225S,MEF2B:NM_001145785:exon6:c.C675A:p.S225S,;ANNO=splicing:MEF2B,MEF2BNB-MEF2B;ANNO=splicing:MEF2B,MEF2BNB-MEF2B
19	19359691	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NCAN:NM_004386:exon14:c.C3820T:p.P1274S,;ANNO=splicing:NCAN
19	19416884	.	G	A	100	PASS	AC=49;STUDIES=5;MAC=49;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SUGP1:NM_172231:exon4:c.C312T:p.D104D,;ANNO=splicing:SUGP1
19	19427232	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SUGP1:NM_172231:exon2:c.G205A:p.E69K,;ANNO=splicing:SUGP1
19	19645844	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:YJEFN3:NM_001190328:exon3:c.C170T:p.A57V,YJEFN3:NM_198537:exon4:c.C320T:p.A107V,;ANNO=splicing:YJEFN3
19	19675743	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PBX4:NM_025245:exon6:c.C924T:p.S308S,;ANNO=splicing:PBX4
19	19681643	.	C	G	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PBX4(NM_025245:c.193-1G>C)
19	19753345	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GMIP:NM_016573:exon2:c.G103A:p.V35M,;ANNO=splicing:GMIP
19	19767657	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ATP13A1:NM_020410:exon6:c.C975T:p.I325I,;ANNO=splicing:ATP13A1
19	19916935	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:ZNF506:NM_001099269:exon3:c.G131A:p.G44D,;ANNO=splicing:ZNF506
19	21492048	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ZNF708:NM_021269:exon3:c.G226T:p.A76S,;ANNO=splicing:ZNF708
19	21588559	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF493(NM_145326:c.157-1G>A)
19	21588658	.	G	A	100	PASS	AC=22;STUDIES=8;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:ZNF493:NM_145326:exon3:c.G256A:p.V86I,ZNF493:NM_001076678:exon3:c.G253A:p.V85I,;ANNO=splicing:ZNF493
19	22364389	.	C	T	100	PASS	AC=30;STUDIES=11;MAC=30;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF676(NM_001001411:c.130-1G>A)
19	22605147	.	A	C	100	PASS	AC=70;STUDIES=2;MAC=70;MAF=0.178;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=1;ANNO=splicing:ZNF98
19	22817127	.	T	G	100	PASS	AC=79;STUDIES=2;MAC=79;MAF=0.201;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;HWE_FAILURES=1;ANNO=splicing:ZNF492
19	22846601	.	G	T	100	PASS	AC=273;STUDIES=10;MAC=273;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:ZNF492(NM_020855:c.130-1G>T)
19	24309056	.	G	A	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZNF254:NM_203282:exon4:c.G254A:p.G85D,;ANNO=splicing:ZNF254
19	30097231	.	G	A	100	PASS	AC=22;STUDIES=3;MAC=22;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:POP4:NM_006627:exon1:c.G6A:p.K2K,;ANNO=splicing:POP4
19	30101316	.	C	G	100	PASS	AC=19;STUDIES=2;MAC=19;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:POP4:NM_006627:exon3:c.C61G:p.P21A,;ANNO=splicing:POP4
19	30496559	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C19orf2:NM_003796:exon6:c.C461T:p.A154V,C19orf2:NM_134447:exon5:c.C341T:p.A114V,;ANNO=splicing:C19orf2
19	32944052	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DPY19L3:NM_001172774:exon9:c.C857T:p.A286V,DPY19L3:NM_207325:exon9:c.C857T:p.A286V,;ANNO=splicing:DPY19L3
19	32971463	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DPY19L3:NM_001172774:exon18:c.C1989T:p.H663H,DPY19L3:NM_207325:exon18:c.C1989T:p.H663H,;ANNO=splicing:DPY19L3
19	33075916	.	G	A	100	PASS	AC=614;STUDIES=12;MAC=614;MAF=0.038;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PDCD5:NM_004708:exon3:c.G165A:p.R55R,;ANNO=splicing:PDCD5
19	33118990	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:ANKRD27:NM_032139:exon15:c.T1419A:p.C473X,;ANNO=splicing:ANKRD27
19	33202659	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NUDT19:NM_001105570:exon3:c.T924C:p.G308G,;ANNO=splicing:NUDT19
19	33430791	.	T	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CEP89:NM_032816:exon6:c.A596T:p.D199V,;ANNO=splicing:CEP89
19	33444519	.	A	G	100	PASS	AC=351;STUDIES=5;MAC=351;MAF=0.080;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=3;ANNO=splicing:CEP89(NM_032816:c.492+2T>C)
19	33444707	.	C	T	100	PASS	AC=8578;STUDIES=22;MAC=8578;MAF=0.354;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CEP89:NM_032816:exon4:c.G306A:p.R102R,;ANNO=splicing:CEP89
19	33450806	.	C	T	100	PASS	AC=583;STUDIES=10;MAC=583;MAF=0.044;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CEP89:NM_032816:exon3:c.G305A:p.R102Q,;ANNO=splicing:CEP89
19	33464209	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C19orf40(NM_152266:c.106+1G>A)
19	33600922	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GPATCH1:NM_018025:exon11:c.G1585T:p.D529Y,;ANNO=splicing:GPATCH1
19	33603392	.	A	G	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPATCH1:NM_018025:exon13:c.A1765G:p.N589D,;ANNO=splicing:GPATCH1
19	33693755	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LRP3:NM_002333:exon3:c.G123A:p.A41A,;ANNO=splicing:LRP3
19	33980963	.	G	A	100	PASS	AC=99;STUDIES=7;MAC=99;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PEPD:NM_001166057:exon4:c.C250T:p.R84C,PEPD:NM_000285:exon6:c.C442T:p.R148C,PEPD:NM_001166056:exon6:c.C442T:p.R148C,;ANNO=splicing:PEPD
19	34291424	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KCTD15:NM_024076:exon3:c.C65T:p.A22V,KCTD15:NM_001129995:exon3:c.C65T:p.A22V,KCTD15:NM_001129994:exon3:c.C65T:p.A22V,;ANNO=splicing:KCTD15
19	34291425	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KCTD15:NM_024076:exon3:c.G66A:p.A22A,KCTD15:NM_001129995:exon3:c.G66A:p.A22A,KCTD15:NM_001129994:exon3:c.G66A:p.A22A,;ANNO=splicing:KCTD15
19	34712642	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:LSM14A:NM_001114093:exon9:c.G1367A:p.R456K,LSM14A:NM_015578:exon9:c.G1367A:p.R456K,;ANNO=nonsynonymous:LSM14A:NM_001114093:exon9:c.G1367C:p.R456T,LSM14A:NM_015578:exon9:c.G1367C:p.R456T,;ANNO=splicing:LSM14A;ANNO=splicing:LSM14A
19	34819055	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA0355:NM_014686:exon6:c.C1103T:p.T368M,;ANNO=splicing:KIAA0355
19	34868409	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GPI:NM_000175:exon5:c.G404A:p.R135H,;ANNO=splicing:GPI
19	34890239	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GPI:NM_000175:exon15:c.A1397C:p.K466T,GPI:NM_001184722:exon15:c.A1430C:p.K477T,;ANNO=splicing:GPI
19	35174061	.	T	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:ZNF302:NM_001012320:exon4:c.T132A:p.G44G,ZNF302:NM_018443:exon4:c.T132A:p.G44G,;ANNO=splicing:ZNF302
19	35424530	.	A	G	100	PASS	AC=57;STUDIES=8;MAC=57;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF30:NM_001099437:exon4:c.A162G:p.A54A,ZNF30:NM_001099438:exon4:c.A162G:p.A54A,;ANNO=splicing:ZNF30(NM_194325:c.160-2A>G)
19	35450475	.	T	C	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF792:NM_175872:exon4:c.A284G:p.D95G,;ANNO=splicing:ZNF792
19	35501098	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GRAMD1A:NM_001136199:exon4:c.C407T:p.T136M,GRAMD1A:NM_020895:exon5:c.C428T:p.T143M,;ANNO=splicing:GRAMD1A
19	35505292	.	G	A	100	PASS	AC=29;STUDIES=10;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GRAMD1A(NM_001136199:c.1048+1G>A,NM_020895:c.1069+1G>A)
19	35506729	.	G	A	100	PASS	AC=6622;STUDIES=21;MAC=6622;MAF=0.303;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:GRAMD1A:NM_001136199:exon10:c.G1050A:p.A350A,GRAMD1A:NM_020895:exon11:c.G1071A:p.A357A,;ANNO=splicing:GRAMD1A
19	35510096	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GRAMD1A:NM_001136199:exon11:c.C1194T:p.D398D,GRAMD1A:NM_020895:exon12:c.C1215T:p.D405D,;ANNO=splicing:GRAMD1A
19	35611983	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:FXYD3:NM_001136011:exon5:c.C42G:p.G14G,FXYD3:NM_001136008:exon4:c.C42G:p.G14G,FXYD3:NM_001136007:exon6:c.C213G:p.G71G,FXYD3:NM_001136012:exon4:c.C42G:p.G14G,FXYD3:NM_021910:exon5:c.C42G:p.G14G,FXYD3:NM_005971:exon4:c.C42G:p.G14G,FXYD3:NM_001136009:exon5:c.C42G:p.G14G,FXYD3:NM_001136010:exon4:c.C42G:p.G14G,;ANNO=splicing:FXYD3
19	35617920	.	C	T	100	PASS	AC=224;STUDIES=11;MAC=224;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LGI4:NM_139284:exon7:c.G630A:p.E210E,;ANNO=splicing:LGI4
19	35718863	.	T	C	100	PASS	AC=91;STUDIES=8;MAC=91;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM187B:NM_152481:exon1:c.A721G:p.R241G,;ANNO=splicing:FAM187B
19	35752883	.	A	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LSR:NM_205834:exon4:c.A774C:p.E258D,;ANNO=splicing:LSR
19	35775693	.	C	T	100	PASS	AC=92;STUDIES=15;MAC=92;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HAMP:NM_021175:exon2:c.C92T:p.T31M,;ANNO=splicing:HAMP
19	35979386	.	G	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:KRTDAP:NM_207392:exon4:c.C170T:p.A57V,;ANNO=splicing:KRTDAP
19	35989664	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DMKN:NM_033317:exon15:c.C1385T:p.A462V,DMKN:NM_001126059:exon11:c.C524T:p.A175V,DMKN:NM_001126056:exon17:c.C1352T:p.A451V,DMKN:NM_001035516:exon5:c.C227T:p.A76V,DMKN:NM_001190347:exon16:c.C1304T:p.A435V,;ANNO=splicing:DMKN
19	35989800	.	C	G	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DMKN(NM_001190347:c.1278-1G>C,NM_001126056:c.1326-1G>C,NM_001035516:c.201-1G>C,NM_001126059:c.498-1G>C,NM_033317:c.1359-1G>C)
19	36017546	.	A	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SBSN:NM_001166034:exon1:c.T1638C:p.N546N,SBSN:NM_198538:exon2:c.T609C:p.N203N,;ANNO=splicing:SBSN
19	36033311	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GAPDHS:NM_014364:exon5:c.G540A:p.S180S,;ANNO=splicing:GAPDHS
19	36036001	.	T	C	100	PASS	AC=56;STUDIES=15;MAC=56;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GAPDHS:NM_014364:exon11:c.T1156C:p.Y386H,;ANNO=splicing:GAPDHS
19	36041912	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATP4A:NM_000704:exon20:c.G2987A:p.R996Q,;ANNO=splicing:ATP4A
19	36049588	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATP4A:NM_000704:exon9:c.G1256A:p.G419E,;ANNO=splicing:ATP4A
19	36054287	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ATP4A:NM_000704:exon2:c.T155C:p.I52T,;ANNO=splicing:ATP4A
19	36054520	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=synonymous:ATP4A:NM_000704:exon1:c.C12T:p.A4A,;ANNO=synonymous:ATP4A:NM_000704:exon1:c.C12A:p.A4A,;ANNO=splicing:ATP4A;ANNO=splicing:ATP4A
19	36108190	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:HAUS5:NM_015302:exon8:c.G557A:p.R186H,;ANNO=splicing:HAUS5
19	36224408	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MLL4:NM_014727:exon28:c.G6958A:p.G2320R,;ANNO=splicing:MLL4
19	36231465	.	T	C	100	PASS	AC=13;STUDIES=3;MAC=13;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IGFLR1:NM_024660:exon3:c.A158G:p.D53G,;ANNO=splicing:IGFLR1
19	36243813	.	G	A	100	PASS	AC=15931;STUDIES=13;MAC=1;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LIN37(NM_019104:c.191-2G>A)
19	36256077	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C19orf55:NM_001039887:exon7:c.G769A:p.A257T,;ANNO=splicing:C19orf55
19	36275074	.	G	A	100	PASS	AC=3573;STUDIES=21;MAC=3573;MAF=0.162;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:ARHGAP33:NM_052948:exon16:c.G1422A:p.R474R,ARHGAP33:NM_001172630:exon15:c.G1014A:p.R338R,;ANNO=splicing:ARHGAP33
19	36298022	.	T	C	100	PASS	AC=938;STUDIES=14;MAC=938;MAF=0.063;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:PRODH2:NM_021232:exon6:c.A827G:p.N276S,;ANNO=splicing:PRODH2
19	36302863	.	C	A	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRODH2(NM_021232:c.825+1G>T)
19	36321954	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NPHS1(NM_004646:c.3481+1G>T)
19	36330320	.	C	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NPHS1:NM_004646:exon22:c.G2928T:p.R976S,;ANNO=splicing:NPHS1
19	36333453	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NPHS1(NM_004646:c.2334-1G>A)
19	36349459	.	G	A	100	PASS	AC=24;STUDIES=3;MAC=24;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIRREL2:NM_199180:exon3:c.G361A:p.V121I,KIRREL2:NM_032123:exon3:c.G361A:p.V121I,KIRREL2:NM_199179:exon2:c.G211A:p.V71I,;ANNO=splicing:KIRREL2
19	36351305	.	G	T	100	PASS	AC=22;STUDIES=10;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIRREL2(NM_199180:c.779+1G>T,NM_199179:c.629+1G>T,NM_032123:c.779+1G>T)
19	36352024	.	G	A	100	PASS	AC=682;STUDIES=20;MAC=682;MAF=0.032;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIRREL2:NM_199180:exon9:c.G1057A:p.V353M,KIRREL2:NM_032123:exon9:c.G1057A:p.V353M,KIRREL2:NM_199179:exon8:c.G907A:p.V303M,;ANNO=splicing:KIRREL2
19	36362761	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:APLP1:NM_001024807:exon6:c.G673T:p.D225Y,APLP1:NM_005166:exon6:c.G673T:p.D225Y,;ANNO=splicing:APLP1
19	36394805	.	G	A	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HCST:NM_014266:exon3:c.G241A:p.E81K,HCST:NM_001007469:exon3:c.G241A:p.D81N,;ANNO=splicing:HCST
19	36398163	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TYROBP:NM_001173514:exon3:c.C200T:p.A67V,TYROBP:NM_003332:exon4:c.C233T:p.A78V,TYROBP:NM_198125:exon4:c.C230T:p.A77V,TYROBP:NM_001173515:exon3:c.C197T:p.A66V,;ANNO=splicing:TYROBP
19	36398481	.	A	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TYROBP:NM_001173514:exon2:c.T63A:p.D21E,TYROBP:NM_003332:exon3:c.T96A:p.D32E,TYROBP:NM_198125:exon3:c.T96A:p.D32E,TYROBP:NM_001173515:exon2:c.T63A:p.D21E,;ANNO=splicing:TYROBP
19	36398633	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TYROBP:NM_003332:exon2:c.C93T:p.S31S,TYROBP:NM_198125:exon2:c.C93T:p.S31S,;ANNO=splicing:TYROBP
19	36494424	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C19orf46(NM_001039876:c.1031-2A>T)
19	36526495	.	C	G	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:THAP8(NM_152658:c.672-1G>C)
19	36575645	.	G	A	100	PASS	AC=4190;STUDIES=22;MAC=4190;MAF=0.173;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:WDR62:NM_001083961:exon12:c.G1641A:p.T547T,WDR62:NM_173636:exon12:c.G1641A:p.T547T,;ANNO=splicing:WDR62
19	36594110	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WDR62(NM_001083961:c.3514+1G>A,NM_173636:c.3499+1G>A)
19	36595670	.	T	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:WDR62:NM_001083961:exon32:c.T4312A:p.L1438M,WDR62:NM_173636:exon32:c.T4297A:p.L1433M,;ANNO=splicing:WDR62
19	36643296	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COX7A1:NM_001864:exon1:c.G14T:p.R5L,;ANNO=splicing:COX7A1
19	37680561	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:ZNF585B(NM_152279:c.292+2T>C)
19	37680563	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ZNF585B:NM_152279:exon4:c.G292A:p.G98R,;ANNO=splicing:ZNF585B
19	37726975	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZNF383:NM_152604:exon4:c.A231G:p.S77S,;ANNO=splicing:ZNF383
19	37870148	.	G	T	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:ZNF527:NM_032453:exon3:c.G160T:p.G54X,;ANNO=splicing:ZNF527
19	38023257	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF793(NM_001013659:c.15-1G>A)
19	38138716	.	C	T	100	PASS	AC=65;STUDIES=6;MAC=65;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZFP30:NM_014898:exon3:c.G8A:p.R3H,;ANNO=splicing:ZFP30
19	38597178	.	C	T	100	PASS	AC=8;STUDIES=7;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SIPA1L3:NM_015073:exon7:c.C2031T:p.T677T,;ANNO=splicing:SIPA1L3
19	38800045	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:YIF1B:NM_001145462:exon2:c.C204T:p.N68N,YIF1B:NM_001039672:exon2:c.C297T:p.N99N,YIF1B:NM_033557:exon1:c.C204T:p.N68N,YIF1B:NM_001145463:exon2:c.C288T:p.N96N,YIF1B:NM_001039673:exon2:c.C288T:p.N96N,YIF1B:NM_001145461:exon2:c.C246T:p.N82N,YIF1B:NM_001039671:exon2:c.C252T:p.N84N,;ANNO=splicing:YIF1B
19	38800283	.	G	C	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:YIF1B:NM_001039672:exon2:c.C59T:p.P20L,YIF1B:NM_001145463:exon2:c.C50T:p.P17L,YIF1B:NM_001039673:exon2:c.C50T:p.P17L,YIF1B:NM_001145461:exon2:c.C8T:p.A3V,YIF1B:NM_001039671:exon2:c.C14T:p.A5V,;ANNO=nonsynonymous:YIF1B:NM_001039672:exon2:c.C59G:p.P20R,YIF1B:NM_001145463:exon2:c.C50G:p.P17R,YIF1B:NM_001039673:exon2:c.C50G:p.P17R,YIF1B:NM_001145461:exon2:c.C8G:p.A3G,YIF1B:NM_001039671:exon2:c.C14G:p.A5G,;ANNO=splicing:YIF1B;ANNO=splicing:YIF1B
19	38817232	.	G	A	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KCNK6(NM_004823:c.322-1G>A)
19	38817628	.	G	A	100	PASS	AC=178;STUDIES=17;MAC=178;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KCNK6:NM_004823:exon2:c.G718A:p.V240I,;ANNO=splicing:KCNK6
19	38852851	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CATSPERG:NM_021185:exon18:c.C2096G:p.P699R,;ANNO=splicing:CATSPERG
19	38897548	.	A	C	100	PASS	AC=22;STUDIES=4;MAC=22;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FAM98C(NM_174905:c.750-2A>C)
19	38901527	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RASGRP4:NM_001146206:exon13:c.C1397T:p.T466M,RASGRP4:NM_001146202:exon16:c.C1922T:p.T641M,RASGRP4:NM_170604:exon16:c.C1964T:p.T655M,RASGRP4:NM_001146205:exon16:c.C1862T:p.T621M,RASGRP4:NM_001146204:exon16:c.C1757T:p.T586M,RASGRP4:NM_001146207:exon14:c.C1673T:p.T558M,RASGRP4:NM_001146203:exon15:c.C1688T:p.T563M,;ANNO=splicing:RASGRP4
19	38910501	.	G	A	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RASGRP4:NM_001146206:exon6:c.C662T:p.T221M,RASGRP4:NM_001146202:exon6:c.C620T:p.T207M,RASGRP4:NM_170604:exon6:c.C662T:p.T221M,RASGRP4:NM_001146205:exon6:c.C662T:p.T221M,RASGRP4:NM_001146204:exon6:c.C662T:p.T221M,RASGRP4:NM_001146207:exon6:c.C662T:p.T221M,RASGRP4:NM_001146203:exon6:c.C662T:p.T221M,;ANNO=splicing:RASGRP4
19	38912609	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RASGRP4:NM_001146206:exon2:c.G208A:p.D70N,RASGRP4:NM_001146202:exon2:c.G208A:p.D70N,RASGRP4:NM_170604:exon2:c.G208A:p.D70N,RASGRP4:NM_001146205:exon2:c.G208A:p.D70N,RASGRP4:NM_001146204:exon2:c.G208A:p.D70N,RASGRP4:NM_001146207:exon2:c.G208A:p.D70N,RASGRP4:NM_001146203:exon2:c.G208A:p.D70N,;ANNO=splicing:RASGRP4
19	38955362	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RYR1:NM_001042723:exon23:c.C2870T:p.T957M,RYR1:NM_000540:exon23:c.C2870T:p.T957M,;ANNO=splicing:RYR1
19	38966089	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RYR1:NM_001042723:exon29:c.C4292T:p.T1431M,RYR1:NM_000540:exon29:c.C4292T:p.T1431M,;ANNO=splicing:RYR1
19	38989882	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RYR1:NM_001042723:exon43:c.C7026T:p.N2342N,RYR1:NM_000540:exon43:c.C7026T:p.N2342N,;ANNO=splicing:RYR1
19	39006727	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RYR1:NM_001042723:exon65:c.G9555C:p.K3185N,RYR1:NM_000540:exon65:c.G9555C:p.K3185N,;ANNO=splicing:RYR1
19	39026637	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RYR1:NM_001042723:exon81:c.C11502T:p.S3834S,RYR1:NM_000540:exon82:c.C11517T:p.S3839S,;ANNO=splicing:RYR1
19	39026638	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RYR1:NM_001042723:exon81:c.G11503A:p.V3835I,RYR1:NM_000540:exon82:c.G11518A:p.V3840I,;ANNO=splicing:RYR1
19	39033988	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RYR1:NM_001042723:exon84:c.T11676C:p.D3892D,RYR1:NM_000540:exon85:c.T11691C:p.D3897D,;ANNO=splicing:RYR1
19	39057626	.	G	C	100	PASS	AC=74;STUDIES=13;MAC=74;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RYR1:NM_001042723:exon91:c.G13498C:p.D4500H,RYR1:NM_000540:exon92:c.G13513C:p.D4505H,;ANNO=splicing:RYR1
19	39068843	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RYR1:NM_001042723:exon98:c.A14348G:p.N4783S,RYR1:NM_000540:exon99:c.A14363G:p.N4788S,;ANNO=splicing:RYR1
19	39068844	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RYR1:NM_001042723:exon98:c.C14349T:p.N4783N,RYR1:NM_000540:exon99:c.C14364T:p.N4788N,;ANNO=splicing:RYR1
19	39086580	.	A	G	100	PASS	AC=166;STUDIES=17;MAC=166;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MAP4K1:NM_001042600:exon27:c.T2178C:p.D726D,MAP4K1:NM_007181:exon27:c.T2178C:p.D726D,;ANNO=splicing:MAP4K1
19	39087776	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MAP4K1:NM_001042600:exon25:c.G1839A:p.A613A,MAP4K1:NM_007181:exon25:c.G1839A:p.A613A,;ANNO=splicing:MAP4K1
19	39100236	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MAP4K1:NM_001042600:exon13:c.C1006T:p.R336W,MAP4K1:NM_007181:exon13:c.C1006T:p.R336W,;ANNO=splicing:MAP4K1
19	39208713	.	C	T	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:ACTN4:NM_004924:exon11:c.C1290T:p.D430D,;ANNO=splicing:ACTN4
19	39224844	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CAPN12:NM_144691:exon17:c.C1816T:p.H606Y,;ANNO=splicing:CAPN12
19	39227202	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CAPN12:NM_144691:exon11:c.T1364G:p.I455S,;ANNO=splicing:CAPN12
19	39294191	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LGALS4:NM_006149:exon7:c.A541T:p.T181S,;ANNO=splicing:LGALS4
19	39303158	.	G	A	100	PASS	AC=383;STUDIES=12;MAC=383;MAF=0.026;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LGALS4:NM_006149:exon2:c.C47T:p.T16M,;ANNO=splicing:LGALS4
19	39371459	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SIRT2(NM_012237:c.824+2T>C,NM_030593:c.713+2T>C)
19	39399371	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NFKBIB:NM_002503:exon6:c.G970A:p.D324N,;ANNO=splicing:NFKBIB
19	39439208	.	C	T	100	PASS	AC=16;STUDIES=9;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FBXO17:NM_148169:exon3:c.G487A:p.E163K,FBXO17:NM_024907:exon3:c.G460A:p.E154K,;ANNO=splicing:FBXO17
19	39517509	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FBXO27(NM_178820:c.708+1G>A)
19	39517645	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:FBXO27:NM_178820:exon5:c.G573A:p.W191X,;ANNO=splicing:FBXO27
19	39590868	.	A	G	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PAPL:NM_001004318:exon5:c.A507G:p.G169G,;ANNO=splicing:PAPL
19	39690984	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NCCRP1(NM_001001414:c.548-2A>G)
19	39913373	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLEKHG2:NM_022835:exon18:c.C1679T:p.P560L,;ANNO=splicing:PLEKHG2
19	39926486	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RPS16(NM_001020:c.48+2T>C)
19	39994711	.	T	C	100	PASS	AC=13543;STUDIES=21;MAC=10047;MAF=0.426;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:DLL3:NM_203486:exon5:c.T653C:p.L218P,DLL3:NM_016941:exon5:c.T653C:p.L218P,;ANNO=splicing:DLL3
19	40195183	.	C	T	100	PASS	AC=168;STUDIES=19;MAC=168;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LGALS14:NM_020129:exon1:c.C15T:p.P5P,;ANNO=splicing:LGALS14
19	40330874	.	G	A	100	PASS	AC=74;STUDIES=14;MAC=74;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FBL:NM_001436:exon4:c.C377T:p.S126L,;ANNO=splicing:FBL
19	40361055	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FCGBP:NM_003890:exon33:c.C15353T:p.P5118L,;ANNO=splicing:FCGBP
19	40362717	.	C	A	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FCGBP(NM_003890:c.15352+1G>T)
19	40362718	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FCGBP:NM_003890:exon32:c.C15352T:p.P5118S,;ANNO=splicing:FCGBP
19	40376313	.	C	A	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:FCGBP:NM_003890:exon25:c.G11991T:p.E3997D,;ANNO=splicing:FCGBP
19	40408254	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FCGBP:NM_003890:exon8:c.C4585T:p.P1529S,;ANNO=splicing:FCGBP
19	40423979	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FCGBP:NM_003890:exon4:c.C2224T:p.P742S,;ANNO=splicing:FCGBP
19	40485978	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PSMC4:NM_153001:exon8:c.C750T:p.A250A,PSMC4:NM_006503:exon8:c.C843T:p.A281A,;ANNO=splicing:PSMC4
19	40502943	.	A	C	100	PASS	AC=143;STUDIES=2;MAC=143;MAF=0.074;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ZNF546
19	40554705	.	T	C	100	PASS	AC=172;STUDIES=13;MAC=172;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:ZNF780B(NM_001005851:c.9-2A>G)
19	40732283	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CNTD2:NM_024877:exon1:c.T266C:p.M89T,;ANNO=splicing:CNTD2
19	41089390	.	G	C	100	PASS	AC=505;STUDIES=22;MAC=505;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SHKBP1:NM_138392:exon11:c.G1047C:p.V349V,;ANNO=splicing:SHKBP1
19	41117300	.	G	A	100	PASS	AC=168;STUDIES=14;MAC=168;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LTBP4:NM_001042545:exon13:c.G2053A:p.D685N,LTBP4:NM_001042544:exon16:c.G2254A:p.D752N,LTBP4:NM_003573:exon16:c.G2143A:p.D715N,;ANNO=splicing:LTBP4
19	41129842	.	C	T	100	PASS	AC=5991;STUDIES=16;MAC=5991;MAF=0.414;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=3;ANNO=nonsynonymous:LTBP4:NM_001042545:exon26:c.C3686T:p.T1229I,LTBP4:NM_001042544:exon29:c.C3887T:p.T1296I,LTBP4:NM_003573:exon29:c.C3776T:p.T1259I,;ANNO=splicing:LTBP4
19	41175804	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NUMBL:NM_004756:exon9:c.A1158G:p.T386T,;ANNO=splicing:NUMBL
19	41201894	.	C	T	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ADCK4:NM_024876:exon13:c.G1209A:p.E403E,ADCK4:NM_001142555:exon12:c.G1086A:p.E362E,;ANNO=splicing:ADCK4
19	41243601	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ITPKC(NM_025194:c.1776-2A>G)
19	41284295	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RAB4B:NM_016154:exon1:c.C15T:p.Y5Y,;ANNO=splicing:RAB4B
19	41351198	.	C	A	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:CYP2A6(NM_000762:c.1161+1G>T)
19	41355885	.	T	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:CYP2A6:NM_000762:exon2:c.A181T:p.I61F,;ANNO=splicing:CYP2A6
19	41382432	.	C	G	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CYP2A7:NM_000764:exon8:c.G1303C:p.G435R,CYP2A7:NM_030589:exon7:c.G1150C:p.G384R,;ANNO=splicing:CYP2A7
19	41387656	.	A	T	100	PASS	AC=3459;STUDIES=12;MAC=3459;MAF=0.422;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=5;ANNO=nonsynonymous:CYP2A7:NM_000764:exon2:c.T181A:p.F61I,;ANNO=splicing:CYP2A7
19	41518204	.	G	C	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CYP2B6:NM_000767:exon7:c.G966C:p.E322D,;ANNO=splicing:CYP2B6
19	41597815	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CYP2A13(NM_000766:c.831+2T>C)
19	41743849	.	G	A	100	PASS	AC=28;STUDIES=8;MAC=28;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:AXL:NM_021913:exon7:c.G784A:p.A262T,AXL:NM_001699:exon7:c.G784A:p.A262T,;ANNO=splicing:AXL
19	41916721	.	C	T	100	PASS	AC=14;STUDIES=8;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BCKDHA:NM_001164783:exon2:c.C288T:p.H96H,BCKDHA:NM_000709:exon2:c.C288T:p.H96H,;ANNO=splicing:BCKDHA
19	41928070	.	G	T	100	PASS	AC=36;STUDIES=5;MAC=36;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BCKDHA:NM_001164783:exon6:c.G648T:p.A216A,BCKDHA:NM_000709:exon6:c.G648T:p.A216A,;ANNO=splicing:BCKDHA
19	42083552	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CEACAM21:NM_033543:exon2:c.C65T:p.A22V,CEACAM21:NM_001098506:exon2:c.C65T:p.A22V,;ANNO=splicing:CEACAM21
19	42091847	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CEACAM21:NM_033543:exon5:c.C846T:p.P282P,CEACAM21:NM_001098506:exon5:c.C849T:p.P283P,;ANNO=splicing:CEACAM21
19	42091848	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CEACAM21:NM_033543:exon5:c.G847T:p.G283C,CEACAM21:NM_001098506:exon5:c.G850T:p.G284C,;ANNO=splicing:CEACAM21
19	42092225	.	G	A	100	PASS	AC=245;STUDIES=12;MAC=245;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEACAM21(NM_033543:c.879+1G>A,NM_001098506:c.882+1G>A)
19	42092815	.	T	A	100	PASS	AC=7280;STUDIES=9;MAC=2216;MAF=0.233;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=1;ANNO=splicing:CEACAM21(NM_033543:c.879-2T>A,NM_001098506:c.882-2T>A)
19	42133267	.	C	G	100	PASS	AC=166;STUDIES=6;MAC=166;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:CEACAM4(NM_001817:c.64+1G>C);ANNO=splicing:CEACAM4(NM_001817:c.64+1G>A)
19	42187716	.	A	G	100	PASS	AC=501;STUDIES=13;MAC=501;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:CEACAM7:NM_006890:exon3:c.T706C:p.Y236H,;ANNO=splicing:CEACAM7
19	42190791	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CEACAM7:NM_006890:exon2:c.C426A:p.F142L,;ANNO=splicing:CEACAM7
19	42192030	.	C	A	100	PASS	AC=45;STUDIES=11;MAC=45;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEACAM7(NM_006890:c.64+1G>T)
19	42218889	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEACAM5(NM_004363:c.424-1G>A)
19	42351948	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DMRTC2:NM_001040283:exon3:c.C369T:p.P123P,;ANNO=splicing:DMRTC2
19	42373769	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RPS19:NM_001022:exon5:c.C357T:p.G119G,;ANNO=splicing:RPS19
19	42408188	.	A	C	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ARHGEF1:NM_198977:exon20:c.A1820C:p.N607T,ARHGEF1:NM_004706:exon21:c.A1919C:p.N640T,ARHGEF1:NM_199002:exon21:c.A1964C:p.N655T,;ANNO=splicing:ARHGEF1
19	42492088	.	G	A	100	PASS	AC=32;STUDIES=12;MAC=32;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ATP1A3:NM_152296:exon4:c.C357T:p.N119N,;ANNO=splicing:ATP1A3
19	42754716	.	C	T	100	PASS	AC=25;STUDIES=7;MAC=25;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:ERF:NM_006494:exon2:c.G24A:p.G8G,;ANNO=splicing:ERF
19	42794386	.	G	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CIC:NM_015125:exon10:c.G1466C:p.G489A,;ANNO=splicing:CIC
19	42819341	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TMEM145:NM_173633:exon7:c.G507T:p.G169G,;ANNO=splicing:TMEM145
19	42827940	.	C	T	100	PASS	AC=58;STUDIES=15;MAC=58;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMEM145:NM_173633:exon14:c.C1400T:p.S467F,;ANNO=splicing:TMEM145
19	42838364	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MEGF8:NM_001410:exon3:c.C557T:p.S186L,;ANNO=splicing:MEGF8
19	42853851	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MEGF8:NM_001410:exon13:c.C2298T:p.S766S,;ANNO=splicing:MEGF8
19	42857826	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MEGF8:NM_001410:exon20:c.C3559T:p.R1187W,;ANNO=splicing:MEGF8
19	42858176	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MEGF8:NM_001410:exon21:c.G3810A:p.T1270T,;ANNO=splicing:MEGF8
19	42930418	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LIPE(NM_005357:c.883+1G>A)
19	43093886	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:CEACAM8:NM_001816:exon3:c.G426A:p.P142P,;ANNO=splicing:CEACAM8
19	43093887	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:CEACAM8:NM_001816:exon3:c.C425T:p.P142L,;ANNO=splicing:CEACAM8
19	43097692	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEACAM8(NM_001816:c.424+1G>A)
19	43097693	.	G	T	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:CEACAM8:NM_001816:exon2:c.C424A:p.P142T,;ANNO=splicing:CEACAM8
19	43258740	.	C	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:PSG8(NM_001130167:c.988-1G>C,NM_001130168:c.622-1G>C,NM_182707:c.988-1G>C)
19	43268067	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;SNP_ON_RIGHT;ANNO=splicing:PSG8(NM_001130167:c.430+1G>A,NM_182707:c.430+1G>A)
19	43268069	.	A	G	100	PASS	AC=2414;STUDIES=21;MAC=2414;MAF=0.108;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=synonymous:PSG8:NM_182707:exon2:c.T429C:p.Y143Y,PSG8:NM_001130167:exon2:c.T429C:p.Y143Y,;ANNO=splicing:PSG8
19	43375918	.	C	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;TRIALLELIC;ANNO=splicing:PSG1(NM_001184826:c.709+1G>C,NM_001184825:c.709+1G>C,NM_006905:c.709+1G>C);ANNO=splicing:PSG1(NM_001184826:c.709+1G>A,NM_001184825:c.709+1G>A,NM_006905:c.709+1G>A)
19	43375918	.	C	T	100	PASS	AC=80;STUDIES=3;MAC=80;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:PSG1(NM_001184826:c.709+1G>C,NM_001184825:c.709+1G>C,NM_006905:c.709+1G>C);ANNO=splicing:PSG1(NM_001184826:c.709+1G>A,NM_001184825:c.709+1G>A,NM_006905:c.709+1G>A)
19	43412006	.	G	T	100	PASS	AC=19;STUDIES=5;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:PSG6:NM_001031850:exon4:c.C707A:p.P236Q,PSG6:NM_002782:exon4:c.C707A:p.P236Q,;ANNO=splicing:PSG6
19	43414731	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:PSG6(NM_001031850:c.706+1G>A,NM_002782:c.706+1G>A)
19	43415009	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:PSG6:NM_001031850:exon3:c.G429A:p.S143S,PSG6:NM_002782:exon3:c.G429A:p.S143S,;ANNO=splicing:PSG6
19	43430867	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:PSG7:NM_002783:exon4:c.G711A:p.P237P,PSG7:NM_001206650:exon3:c.G345A:p.P115P,;ANNO=splicing:PSG7
19	43430868	.	G	A	100	PASS	AC=22;STUDIES=3;MAC=22;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:PSG7:NM_002783:exon4:c.C710T:p.P237L,PSG7:NM_001206650:exon3:c.C344T:p.P115L,;ANNO=splicing:PSG7
19	43433593	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:PSG7(NM_002783:c.709+1G>A,NM_001206650:c.343+1G>A)
19	43579505	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:PSG2(NM_031246:c.709+1G>A)
19	43680300	.	A	G	100	PASS	AC=31;STUDIES=6;MAC=31;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:PSG5:NM_001130014:exon3:c.T431C:p.L144P,PSG5:NM_002781:exon3:c.T431C:p.L144P,;ANNO=splicing:PSG5
19	43688934	.	G	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:PSG5:NM_001130014:exon2:c.C430A:p.L144M,PSG5:NM_002781:exon2:c.C430A:p.L144M,;ANNO=splicing:PSG5
19	43688935	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=stopgain:PSG5:NM_001130014:exon2:c.C429A:p.Y143X,PSG5:NM_002781:exon2:c.C429A:p.Y143X,;ANNO=splicing:PSG5
19	43766012	.	G	A	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:PSG9:NM_002784:exon3:c.C709T:p.P237S,;ANNO=splicing:PSG9
19	43772302	.	C	T	100	PASS	AC=2282;STUDIES=18;MAC=2282;MAF=0.109;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:PSG9(NM_002784:c.64-1G>A)
19	43859812	.	G	C	100	PASS	AC=23;STUDIES=8;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:CD177(NM_020406:c.379-1G>C)
19	43910673	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TEX101(NM_031451:c.15+2T>C)
19	43990419	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PHLDB3:NM_198850:exon13:c.C1484T:p.T495M,;ANNO=splicing:PHLDB3
19	43990762	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PHLDB3:NM_198850:exon12:c.G1427A:p.R476Q,;ANNO=splicing:PHLDB3
19	44047839	.	C	T	100	PASS	AC=30;STUDIES=11;MAC=30;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:XRCC1:NM_006297:exon16:c.G1713A:p.G571G,;ANNO=splicing:XRCC1
19	44156378	.	G	A	100	PASS	AC=70;STUDIES=17;MAC=70;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLAUR:NM_001005377:exon5:c.C618T:p.H206H,PLAUR:NM_002659:exon6:c.C753T:p.H251H,PLAUR:NM_001005376:exon6:c.C753T:p.H251H,;ANNO=splicing:PLAUR
19	44252048	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SMG9:NM_019108:exon4:c.C227T:p.S76L,;ANNO=splicing:SMG9
19	44303139	.	C	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LYPD5:NM_182573:exon3:c.G66C:p.G22G,LYPD5:NM_001031749:exon3:c.G195C:p.G65G,;ANNO=splicing:LYPD5
19	44384163	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZNF404:NM_001033719:exon1:c.G126T:p.L42F,;ANNO=splicing:ZNF404
19	44514422	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF230:NM_006300:exon5:c.C231T:p.G77G,;ANNO=splicing:ZNF230
19	44669960	.	T	C	100	PASS	AC=1063;STUDIES=2;MAC=911;MAF=0.461;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=splicing:ZNF226
19	44777053	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF233:NM_181756:exon5:c.A240G:p.G80G,ZNF233:NM_001207005:exon5:c.A240G:p.G80G,;ANNO=splicing:ZNF233
19	45015212	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CEACAM20:NM_001102597:exon11:c.C1614T:p.D538D,CEACAM20:NM_001102600:exon10:c.C1578T:p.D526D,CEACAM20:NM_001102599:exon10:c.C1335T:p.D445D,CEACAM20:NM_001102598:exon9:c.C1299T:p.D433D,;ANNO=splicing:CEACAM20
19	45016926	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CEACAM20:NM_001102597:exon8:c.G1514A:p.R505Q,CEACAM20:NM_001102600:exon8:c.G1514A:p.R505Q,CEACAM20:NM_001102599:exon7:c.G1235A:p.R412Q,CEACAM20:NM_001102598:exon7:c.G1235A:p.R412Q,;ANNO=splicing:CEACAM20
19	45016927	.	G	A	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stopgain:CEACAM20:NM_001102597:exon8:c.C1513T:p.R505X,CEACAM20:NM_001102600:exon8:c.C1513T:p.R505X,CEACAM20:NM_001102599:exon7:c.C1234T:p.R412X,CEACAM20:NM_001102598:exon7:c.C1234T:p.R412X,;ANNO=splicing:CEACAM20
19	45017349	.	C	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEACAM20(NM_001102597:c.1309-1G>C,NM_001102600:c.1309-1G>C,NM_001102599:c.1030-1G>C,NM_001102598:c.1030-1G>C)
19	45184584	.	G	C	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CEACAM19:NM_001127893:exon6:c.G792C:p.R264R,CEACAM19:NM_020219:exon6:c.G792C:p.R264R,;ANNO=splicing:CEACAM19
19	45284308	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CBLC:NM_001130852:exon2:c.G500A:p.R167Q,CBLC:NM_012116:exon2:c.G500A:p.R167Q,;ANNO=splicing:CBLC
19	45303639	.	G	C	100	PASS	AC=22;STUDIES=8;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CBLC:NM_001130852:exon9:c.G1226C:p.R409T,CBLC:NM_012116:exon10:c.G1364C:p.R455T,;ANNO=splicing:CBLC
19	45322746	.	C	T	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:BCAM:NM_001013257:exon12:c.C1617T:p.T539T,BCAM:NM_005581:exon12:c.C1617T:p.T539T,;ANNO=splicing:BCAM
19	45322840	.	G	A	100	PASS	AC=18;STUDIES=5;MAC=18;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:BCAM:NM_001013257:exon13:c.G1620A:p.V540V,BCAM:NM_005581:exon13:c.G1620A:p.V540V,;ANNO=splicing:BCAM
19	45377290	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PVRL2:NM_002856:exon4:c.C893T:p.T298M,PVRL2:NM_001042724:exon4:c.C893T:p.T298M,;ANNO=splicing:PVRL2
19	45395651	.	G	C	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:TOMM40:NM_006114:exon3:c.G276C:p.E92D,TOMM40:NM_001128916:exon3:c.G276C:p.E92D,TOMM40:NM_001128917:exon2:c.G276C:p.E92D,;ANNO=splicing:TOMM40
19	45489832	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CLPTM1:NM_001294:exon7:c.A792G:p.Q264Q,;ANNO=splicing:CLPTM1
19	45506208	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RELB:NM_006509:exon2:c.G108A:p.G36G,;ANNO=splicing:RELB
19	45528677	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RELB:NM_006509:exon5:c.C749T:p.T250M,;ANNO=splicing:RELB
19	45562527	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CLASRP:NM_007056:exon8:c.C615T:p.D205D,;ANNO=splicing:CLASRP
19	45667173	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRAPPC6A(NM_024108:c.490+1G>C)
19	45766624	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MARK4:NM_001199867:exon4:c.C354T:p.I118I,MARK4:NM_031417:exon4:c.C354T:p.I118I,;ANNO=splicing:MARK4
19	45790922	.	C	T	100	PASS	AC=12;STUDIES=4;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MARK4:NM_001199867:exon13:c.C1494T:p.P498P,MARK4:NM_031417:exon13:c.C1494T:p.P498P,;ANNO=splicing:MARK4
19	45851991	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KLC3:NM_177417:exon6:c.G867T:p.A289A,;ANNO=splicing:KLC3
19	45852179	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KLC3:NM_177417:exon7:c.G969A:p.K323K,;ANNO=splicing:KLC3
19	45853688	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=synonymous:KLC3:NM_177417:exon9:c.C1233A:p.L411L,;ANNO=synonymous:KLC3:NM_177417:exon9:c.C1233T:p.L411L,;ANNO=splicing:KLC3;ANNO=splicing:KLC3
19	45854274	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KLC3:NM_177417:exon12:c.A1442C:p.Q481P,;ANNO=splicing:KLC3
19	45855610	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ERCC2:NM_000400:exon22:c.C2047T:p.R683W,;ANNO=splicing:ERCC2
19	45855906	.	G	A	100	PASS	AC=16;STUDIES=7;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ERCC2:NM_000400:exon21:c.C1904T:p.A635V,;ANNO=splicing:ERCC2
19	45872326	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ERCC2(NM_000400:c.183+2T>A,NM_001130867:c.111+2T>A)
19	45899427	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PPP1R13L:NM_001142502:exon6:c.A902G:p.K301R,PPP1R13L:NM_006663:exon6:c.A902G:p.K301R,;ANNO=splicing:PPP1R13L
19	45998398	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RTN2(NM_005619:c.34-1G>A,NM_206900:c.34-1G>A)
19	46280586	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DMPK:NM_001081563:exon7:c.G1175T:p.G392V,DMPK:NM_004409:exon8:c.G1145T:p.G382V,;ANNO=splicing:DMPK
19	46281385	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DMPK:NM_001081563:exon5:c.G705A:p.T235T,DMPK:NM_001081560:exon6:c.G675A:p.T225T,DMPK:NM_001081562:exon6:c.G675A:p.T225T,DMPK:NM_004409:exon6:c.G675A:p.T225T,;ANNO=splicing:DMPK
19	46281386	.	G	A	100	PASS	AC=17;STUDIES=7;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DMPK:NM_001081563:exon5:c.C704T:p.T235M,DMPK:NM_001081560:exon6:c.C674T:p.T225M,DMPK:NM_001081562:exon6:c.C674T:p.T225M,DMPK:NM_004409:exon6:c.C674T:p.T225M,;ANNO=splicing:DMPK
19	46308275	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RSPH6A(NM_030785:c.888-1G>A)
19	46498340	.	T	G	100	PASS	AC=60;STUDIES=8;MAC=60;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC61:NM_001080402:exon1:c.T2G:p.M1R,;ANNO=splicing:CCDC61
19	46506423	.	C	T	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCDC61:NM_001080402:exon3:c.C318T:p.G106G,;ANNO=splicing:CCDC61
19	46520506	.	G	C	100	PASS	AC=263;STUDIES=18;MAC=263;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC61:NM_001080402:exon13:c.G1369C:p.G457R,;ANNO=splicing:CCDC61
19	46522784	.	C	A	100	PASS	AC=31;STUDIES=4;MAC=31;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PGLYRP1:NM_005091:exon2:c.G409T:p.D137Y,;ANNO=splicing:PGLYRP1
19	46627412	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IGFL3:NM_207393:exon3:c.C81T:p.D27D,;ANNO=splicing:IGFL3
19	46664561	.	A	G	100	PASS	AC=77;STUDIES=2;MAC=77;MAF=0.040;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:IGFL2
19	46733532	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IGFL1:NM_198541:exon3:c.G81A:p.V27V,;ANNO=splicing:IGFL1
19	46815524	.	T	C	100	PASS	AC=62;STUDIES=7;MAC=62;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HIF3A:NM_152796:exon6:c.T670C:p.L224L,HIF3A:NM_152795:exon7:c.T877C:p.L293L,HIF3A:NM_022462:exon6:c.T670C:p.L224L,HIF3A:NM_152794:exon7:c.T871C:p.L291L,;ANNO=splicing:HIF3A
19	46825223	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HIF3A:NM_152796:exon9:c.G1128A:p.S376S,HIF3A:NM_152795:exon10:c.G1335A:p.S445S,HIF3A:NM_022462:exon9:c.G1128A:p.S376S,HIF3A:NM_152794:exon10:c.G1329A:p.S443S,;ANNO=splicing:HIF3A
19	47192955	.	T	C	100	PASS	AC=38;STUDIES=4;MAC=38;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PRKD2:NM_001079881:exon15:c.A1810G:p.S604G,PRKD2:NM_001079880:exon15:c.A1810G:p.S604G,PRKD2:NM_001079882:exon13:c.A1339G:p.S447G,PRKD2:NM_016457:exon14:c.A1810G:p.S604G,;ANNO=splicing:PRKD2
19	47597228	.	G	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZC3H4:NM_015168:exon4:c.C491T:p.P164L,;ANNO=splicing:ZC3H4
19	47768204	.	G	A	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CCDC9(NM_015603:c.720+1G>A)
19	47823038	.	G	A	100	PASS	AC=21811;STUDIES=20;MAC=525;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C5AR1(NM_001736:c.3-1G>A)
19	47858606	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DHX34:NM_014681:exon3:c.C1016T:p.T339M,;ANNO=splicing:DHX34
19	47912357	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MEIS3:NM_020160:exon8:c.C857T:p.S286L,MEIS3:NM_001009813:exon8:c.C806T:p.S269L,;ANNO=splicing:MEIS3
19	47920435	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MEIS3:NM_020160:exon2:c.G185C:p.G62A,MEIS3:NM_001009813:exon2:c.G185C:p.G62A,;ANNO=splicing:MEIS3
19	47979971	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KPTN:NM_007059:exon11:c.G1000A:p.E334K,;ANNO=splicing:KPTN
19	48176977	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GLTSCR1:NM_015711:exon4:c.T42C:p.C14C,;ANNO=splicing:GLTSCR1
19	48249040	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:GLTSCR2:NM_015710:exon1:c.G224A:p.G75D,;ANNO=splicing:GLTSCR2
19	48254846	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:GLTSCR2:NM_015710:exon5:c.A668G:p.K223R,;ANNO=splicing:GLTSCR2
19	48255770	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:GLTSCR2:NM_015710:exon6:c.G671A:p.R224Q,;ANNO=splicing:GLTSCR2
19	48284366	.	G	A	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SEPW1:NM_003009:exon4:c.G110A:p.C37Y,;ANNO=splicing:SEPW1
19	48339501	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CRX:NM_000554:exon3:c.C102T:p.S34S,;ANNO=splicing:CRX
19	48511909	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:ELSPBP1
19	48542465	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CABP5:NM_019855:exon4:c.G348T:p.E116D,;ANNO=splicing:CABP5
19	48543862	.	G	A	100	PASS	AC=19540;STUDIES=22;MAC=4770;MAF=0.196;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CABP5:NM_019855:exon3:c.C238T:p.L80L,;ANNO=splicing:CABP5
19	48547118	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CABP5:NM_019855:exon1:c.G62A:p.R21Q,;ANNO=splicing:CABP5
19	48609818	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PLA2G4C:NM_001159322:exon2:c.G30A:p.R10R,;ANNO=splicing:PLA2G4C
19	48734262	.	C	A	100	PASS	AC=29;STUDIES=10;MAC=29;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CARD8:NM_001184902:exon9:c.G544T:p.V182F,CARD8:NM_014959:exon7:c.G394T:p.V132F,CARD8:NM_001184903:exon7:c.G544T:p.V182F,CARD8:NM_001184900:exon6:c.G544T:p.V182F,CARD8:NM_001184901:exon6:c.G394T:p.V132F,;ANNO=splicing:CARD8
19	48737800	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CARD8:NM_001184902:exon6:c.G210A:p.T70T,CARD8:NM_014959:exon4:c.G60A:p.R20R,CARD8:NM_001184903:exon4:c.G210A:p.T70T,CARD8:NM_001184900:exon3:c.G210A:p.T70T,CARD8:NM_001184901:exon3:c.G60A:p.R20R,;ANNO=splicing:CARD8
19	48806270	.	C	T	100	PASS	AC=220;STUDIES=10;MAC=220;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CCDC114:NM_144577:exon9:c.G960A:p.E320E,;ANNO=splicing:CCDC114
19	48807210	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CCDC114:NM_144577:exon7:c.G742A:p.A248T,;ANNO=splicing:CCDC114
19	48877012	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SYNGR4(NM_012451:c.331+1G>T)
19	48981849	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CYTH2:NM_004228:exon11:c.A1112G:p.Q371R,CYTH2:NM_017457:exon11:c.A1115G:p.Q372R,;ANNO=splicing:CYTH2
19	49122433	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:RPL18
19	49123811	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPHK2(NM_020126:c.39+1G>A,NM_001204158:c.39+1G>A,NM_001204159:c.39+1G>A)
19	49129618	.	G	T	100	PASS	AC=47;STUDIES=13;MAC=47;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SPHK2:NM_001204158:exon3:c.G333T:p.G111G,SPHK2:NM_001204160:exon2:c.G402T:p.G134G,SPHK2:NM_001204159:exon3:c.G510T:p.G170G,SPHK2:NM_020126:exon3:c.G510T:p.G170G,;ANNO=splicing:SPHK2
19	49167399	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NTN5(NM_145807:c.970+1G>A)
19	49238808	.	C	G	100	PASS	AC=19;STUDIES=3;MAC=19;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RASIP1:NM_017805:exon4:c.G824C:p.G275A,;ANNO=splicing:RASIP1
19	49335923	.	G	A	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HSD17B14:NM_016246:exon4:c.C277T:p.H93Y,;ANNO=splicing:HSD17B14
19	49351155	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLEKHA4(NM_001161354:c.1491+2T>C,NM_020904:c.1566+2T>C)
19	49357520	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLEKHA4:NM_020904:exon10:c.C1049T:p.P350L,PLEKHA4:NM_001161354:exon9:c.C974T:p.P325L,;ANNO=splicing:PLEKHA4
19	49398254	.	C	T	100	PASS	AC=90;STUDIES=5;MAC=90;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TULP2(NM_003323:c.514+1G>A)
19	49401095	.	C	G	100	PASS	AC=86;STUDIES=9;MAC=86;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TULP2:NM_003323:exon2:c.G31C:p.D11H,;ANNO=splicing:TULP2
19	49414508	.	C	T	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NUCB1:NM_006184:exon5:c.C479T:p.T160M,;ANNO=splicing:NUCB1
19	49425576	.	C	T	100	PASS	AC=486;STUDIES=9;MAC=486;MAF=0.042;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NUCB1:NM_006184:exon13:c.C1281T:p.D427D,;ANNO=splicing:NUCB1
19	49527212	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CGB(NM_000737:c.15+2T>A)
19	49535761	.	G	A	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CGB2:NM_033378:exon2:c.G10A:p.G4R,;ANNO=splicing:CGB2
19	49539560	.	T	C	100	PASS	AC=200;STUDIES=4;MAC=200;MAF=0.161;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=3;ANNO=nonsynonymous:CGB1:NM_033377:exon2:c.A10G:p.R4G,;ANNO=splicing:CGB1
19	49558616	.	A	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:CGB7(NM_033142:c.15+2T>A)
19	49575288	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KCNA7:NM_031886:exon1:c.G555A:p.P185P,;ANNO=splicing:KCNA7
19	49674836	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRPM4:NM_017636:exon8:c.G860A:p.R287Q,TRPM4:NM_001195227:exon8:c.G860A:p.R287Q,;ANNO=splicing:TRPM4
19	49691898	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRPM4:NM_017636:exon13:c.G1744A:p.G582S,TRPM4:NM_001195227:exon13:c.G1744A:p.G582S,;ANNO=splicing:TRPM4
19	49694029	.	G	A	100	PASS	AC=32;STUDIES=11;MAC=32;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRPM4:NM_017636:exon16:c.G2209A:p.G737R,TRPM4:NM_001195227:exon16:c.G2209A:p.G737R,;ANNO=splicing:TRPM4
19	49714099	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRPM4:NM_017636:exon22:c.A3461G:p.K1154R,TRPM4:NM_001195227:exon21:c.A3026G:p.K1009R,;ANNO=splicing:TRPM4
19	49714749	.	A	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TRPM4(NM_017636:c.3640-2A>T,NM_001195227:c.3205-2A>T)
19	49869051	.	T	G	100	PASS	AC=5860;STUDIES=21;MAC=5860;MAF=0.261;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_REVERSE;EXON_REVERSE;SNP_ON_LEFT;HWE_FAILURES=1;ANNO=nonsynonymous:DKKL1:NM_001197302:exon4:c.T101G:p.M34R,DKKL1:NM_014419:exon4:c.T326G:p.M109R,;ANNO=splicing:DKKL1
19	49902399	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CCDC155:NM_144688:exon8:c.G747A:p.A249A,;ANNO=splicing:CCDC155
19	49910869	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCDC155:NM_144688:exon12:c.C934T:p.R312C,;ANNO=splicing:CCDC155
19	49913131	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CCDC155:NM_144688:exon15:c.A1268G:p.Q423R,;ANNO=splicing:CCDC155
19	49950356	.	C	G	100	PASS	AC=18199;STUDIES=22;MAC=5955;MAF=0.247;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PIH1D1:NM_017916:exon7:c.G612C:p.G204G,;ANNO=splicing:PIH1D1
19	49967779	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ALDH16A1:NM_153329:exon11:c.C1437T:p.D479D,ALDH16A1:NM_001145396:exon10:c.C1284T:p.D428D,;ANNO=splicing:ALDH16A1
19	49977929	.	A	G	100	PASS	AC=325;STUDIES=15;MAC=325;MAF=0.021;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FLT3LG:NM_001459:exon2:c.A33G:p.T11T,FLT3LG:NM_001204502:exon2:c.A33G:p.T11T,FLT3LG:NM_001204503:exon1:c.A33G:p.T11T,;ANNO=splicing:FLT3LG
19	50027765	.	G	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FCGRT:NM_004107:exon4:c.G603A:p.E201E,FCGRT:NM_001136019:exon5:c.G603A:p.E201E,;ANNO=splicing:FCGRT
19	50042435	.	C	A	100	PASS	AC=22;STUDIES=9;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=synonymous:RCN3:NM_020650:exon5:c.C678A:p.I226I,;ANNO=synonymous:RCN3:NM_020650:exon5:c.C678T:p.I226I,;ANNO=splicing:RCN3;ANNO=splicing:RCN3
19	50045811	.	G	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RCN3:NM_020650:exon6:c.G681A:p.A227A,;ANNO=splicing:RCN3
19	50063295	.	C	A	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NOSIP:NM_015953:exon4:c.G72T:p.A24A,;ANNO=splicing:NOSIP
19	50063880	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:NOSIP:NM_015953:exon3:c.A69G:p.T23T,;ANNO=splicing:NOSIP
19	50086974	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PRRG2:NM_000951:exon3:c.G261A:p.T87T,;ANNO=splicing:PRRG2
19	50093627	.	G	A	100	PASS	AC=41;STUDIES=5;MAC=41;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PRRG2(NM_000951:c.590-1G>A)
19	50103194	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PRR12:NM_020719:exon5:c.C4344T:p.P1448P,;ANNO=splicing:PRR12
19	50138992	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RRAS:NM_006270:exon5:c.C571T:p.R191W,;ANNO=splicing:RRAS
19	50140182	.	G	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RRAS:NM_006270:exon3:c.C243T:p.I81I,;ANNO=splicing:RRAS
19	50140300	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RRAS:NM_006270:exon2:c.A241G:p.I81V,;ANNO=splicing:RRAS
19	50148611	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SCAF1:NM_021228:exon3:c.C109G:p.R37G,;ANNO=splicing:SCAF1
19	50170280	.	C	T	100	PASS	AC=34;STUDIES=5;MAC=34;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:BCL2L12:NM_001040668:exon3:c.C361T:p.P121S,BCL2L12:NM_138639:exon3:c.C364T:p.P122S,;ANNO=splicing:BCL2L12
19	50189499	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PRMT1:NM_198318:exon8:c.C855T:p.T285T,PRMT1:NM_001207042:exon6:c.C651T:p.T217T,PRMT1:NM_001536:exon9:c.C909T:p.T303T,;ANNO=splicing:PRMT1
19	50251725	.	C	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TSKS:NM_021733:exon3:c.G401T:p.S134I,;ANNO=splicing:TSKS
19	50308918	.	G	A	100	PASS	AC=24;STUDIES=4;MAC=24;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AP2A1:NM_130787:exon20:c.G2469A:p.R823R,AP2A1:NM_014203:exon21:c.G2535A:p.R845R,;ANNO=splicing:AP2A1
19	50333345	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MED25:NM_030973:exon7:c.T689C:p.V230A,;ANNO=splicing:MED25
19	50339201	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MED25:NM_030973:exon16:c.C1964T:p.P655L,;ANNO=splicing:MED25
19	50360233	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PTOV1:NM_017432:exon6:c.C560T:p.A187V,;ANNO=splicing:PTOV1
19	50365626	.	A	G	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PNKP(NM_007254:c.1029+2T>C)
19	50367493	.	C	T	100	PASS	AC=42;STUDIES=12;MAC=42;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PNKP:NM_007254:exon6:c.G579A:p.R193R,;ANNO=splicing:PNKP
19	50374804	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:AKT1S1:NM_001098632:exon4:c.G627A:p.P209P,AKT1S1:NM_032375:exon4:c.G627A:p.P209P,AKT1S1:NM_001098633:exon4:c.G627A:p.P209P,;ANNO=splicing:AKT1S1
19	50375070	.	A	G	100	PASS	AC=13;STUDIES=2;MAC=13;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AKT1S1:NM_001098632:exon3:c.T456C:p.D152D,AKT1S1:NM_032375:exon3:c.T456C:p.D152D,AKT1S1:NM_001098633:exon3:c.T456C:p.D152D,;ANNO=splicing:AKT1S1
19	50386150	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TBC1D17(NM_024682:c.927+1G>T,NM_001168222:c.828+1G>T)
19	50461829	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SIGLEC11(NM_052884:c.1363-2A>C)
19	50462287	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:SIGLEC11:NM_001135163:exon6:c.G1105C:p.V369L,SIGLEC11:NM_052884:exon6:c.G1105C:p.V369L,;ANNO=nonsynonymous:SIGLEC11:NM_001135163:exon6:c.G1105A:p.V369I,SIGLEC11:NM_052884:exon6:c.G1105A:p.V369I,;ANNO=splicing:SIGLEC11;ANNO=splicing:SIGLEC11
19	50463030	.	C	A	100	PASS	AC=179;STUDIES=4;MAC=179;MAF=0.071;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:SIGLEC11:NM_001135163:exon4:c.G793T:p.A265S,SIGLEC11:NM_052884:exon4:c.G793T:p.A265S,;ANNO=splicing:SIGLEC11
19	50512492	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VRK3(NM_016440:c.289+1G>A)
19	50753080	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MYH14:NM_001077186:exon14:c.G1656A:p.P552P,MYH14:NM_024729:exon13:c.G1632A:p.P544P,MYH14:NM_001145809:exon14:c.G1656A:p.P552P,;ANNO=splicing:MYH14
19	50756009	.	C	T	100	PASS	AC=18;STUDIES=6;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MYH14:NM_001077186:exon16:c.C1944T:p.D648D,MYH14:NM_024729:exon15:c.C1920T:p.D640D,MYH14:NM_001145809:exon16:c.C1944T:p.D648D,;ANNO=splicing:MYH14
19	50783294	.	G	A	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYH14:NM_001077186:exon30:c.G3934A:p.A1312T,MYH14:NM_024729:exon29:c.G3910A:p.A1304T,MYH14:NM_001145809:exon31:c.G4033A:p.A1345T,;ANNO=splicing:MYH14
19	50864919	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:NAPSA(NM_004851:c.468+1G>A)
19	50938418	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYBPC2:NM_004533:exon2:c.C20T:p.A7V,;ANNO=splicing:MYBPC2
19	50940778	.	C	T	100	PASS	AC=759;STUDIES=20;MAC=759;MAF=0.035;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYBPC2:NM_004533:exon6:c.C512T:p.T171M,;ANNO=splicing:MYBPC2
19	50940779	.	G	A	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:MYBPC2(NM_004533:c.512+1G>A)
19	51015030	.	G	T	100	PASS	AC=189;STUDIES=6;MAC=189;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ASPDH:NM_001024656:exon5:c.C494A:p.A165D,ASPDH:NM_001114598:exon7:c.C809A:p.A270D,;ANNO=splicing:ASPDH
19	51133427	.	A	G	100	PASS	AC=21;STUDIES=4;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYT3:NM_032298:exon3:c.T676C:p.Y226H,SYT3:NM_001160329:exon5:c.T676C:p.Y226H,SYT3:NM_001160328:exon5:c.T676C:p.Y226H,;ANNO=splicing:SYT3
19	51190068	.	C	T	100	PASS	AC=18;STUDIES=2;MAC=18;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SHANK1:NM_016148:exon19:c.G2391A:p.E797E,;ANNO=splicing:SHANK1
19	51227161	.	G	A	100	PASS	AC=47;STUDIES=4;MAC=47;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CLEC11A(NM_002975:c.147-1G>A)
19	51293955	.	G	A	100	PASS	AC=1565;STUDIES=19;MAC=1565;MAF=0.087;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:ACPT:NM_033068:exon2:c.G216A:p.T72T,;ANNO=splicing:ACPT
19	51323293	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KLK1(NM_002257:c.496-2A>G)
19	51324969	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KLK1:NM_002257:exon2:c.G205A:p.D69N,;ANNO=splicing:KLK1
19	51359497	.	T	C	100	PASS	AC=8580;STUDIES=20;MAC=8580;MAF=0.392;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=synonymous:KLK3:NM_001030050:exon2:c.T48C:p.G16G,KLK3:NM_001030048:exon2:c.T48C:p.G16G,KLK3:NM_001030047:exon2:c.T48C:p.G16G,KLK3:NM_001648:exon2:c.T48C:p.G16G,;ANNO=splicing:KLK3
19	51361850	.	C	G	100	PASS	AC=180;STUDIES=20;MAC=180;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KLK3:NM_001030048:exon4:c.C500G:p.S167W,KLK3:NM_001030047:exon4:c.C629G:p.S210W,KLK3:NM_001648:exon4:c.C629G:p.S210W,;ANNO=splicing:KLK3
19	51411751	.	C	T	100	PASS	AC=234;STUDIES=12;MAC=234;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KLK4:NM_004917:exon4:c.G476A:p.G159D,;ANNO=splicing:KLK4
19	51523074	.	A	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KLK10
19	51528050	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KLK11:NM_001136032:exon3:c.G41A:p.G14E,KLK11:NM_144947:exon3:c.G137A:p.G46E,KLK11:NM_006853:exon3:c.G41A:p.G14E,KLK11:NM_001167605:exon3:c.G41A:p.G14E,;ANNO=splicing:KLK11
19	51528849	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KLK11:NM_001136032:exon2:c.A39G:p.T13T,KLK11:NM_144947:exon2:c.A135G:p.T45T,KLK11:NM_006853:exon2:c.A39G:p.T13T,KLK11:NM_001167605:exon2:c.A39G:p.T13T,;ANNO=splicing:KLK11
19	51535130	.	A	G	100	PASS	AC=10926;STUDIES=18;MAC=9106;MAF=0.455;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=1;ANNO=splicing:KLK12(NM_019598:c.457+2T>C,NM_145894:c.457+2T>C)
19	51563876	.	C	G	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KLK13:NM_015596:exon2:c.G53C:p.G18A,;ANNO=splicing:KLK13
19	51585978	.	C	T	100	PASS	AC=207;STUDIES=15;MAC=207;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KLK14(NM_022046:c.26+1G>A)
19	51728475	.	G	A	100	PASS	AC=62;STUDIES=5;MAC=62;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:CD33:NM_001772:exon2:c.G39A:p.G13G,CD33:NM_001177608:exon2:c.G39A:p.G13G,;ANNO=splicing:CD33
19	51738931	.	G	A	100	PASS	AC=19;STUDIES=9;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CD33:NM_001772:exon6:c.G924A:p.P308P,CD33:NM_001177608:exon6:c.G924A:p.P308P,CD33:NM_001082618:exon5:c.G543A:p.P181P,;ANNO=splicing:CD33
19	51738933	.	T	C	100	PASS	AC=54;STUDIES=6;MAC=54;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CD33(NM_001772:c.924+2T>C,NM_001177608:c.924+2T>C,NM_001082618:c.543+2T>C)
19	51768620	.	A	G	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C19orf75(NM_173635:c.22-2A>G)
19	51769032	.	A	G	100	PASS	AC=13;STUDIES=9;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C19orf75:NM_173635:exon4:c.A306G:p.R102R,;ANNO=splicing:C19orf75
19	51770627	.	A	C	100	PASS	AC=21;STUDIES=5;MAC=21;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C19orf75:NM_173635:exon5:c.A411C:p.I137I,;ANNO=splicing:C19orf75
19	51830151	.	C	T	100	PASS	AC=17;STUDIES=2;MAC=17;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:IGLON5:NM_001101372:exon5:c.C645T:p.N215N,;ANNO=splicing:IGLON5
19	51870711	.	C	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CLDND2:NM_152353:exon3:c.G430T:p.G144C,;ANNO=splicing:CLDND2
19	51870712	.	C	T	100	PASS	AC=41;STUDIES=15;MAC=41;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CLDND2:NM_152353:exon3:c.G429A:p.A143A,;ANNO=splicing:CLDND2
19	52033235	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SIGLEC6:NM_001245:exon5:c.C755G:p.A252G,SIGLEC6:NM_001177548:exon5:c.C788G:p.A263G,SIGLEC6:NM_198846:exon5:c.C755G:p.A252G,SIGLEC6:NM_198845:exon4:c.C707G:p.S236C,SIGLEC6:NM_001177549:exon5:c.C722G:p.A241G,SIGLEC6:NM_001177547:exon4:c.C599G:p.S200C,;ANNO=splicing:SIGLEC6
19	52084769	.	G	A	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF175:NM_007147:exon3:c.G198A:p.V66V,;ANNO=splicing:ZNF175
19	52395150	.	T	C	100	PASS	AC=18;STUDIES=11;MAC=18;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ZNF649:NM_023074:exon5:c.A239G:p.E80G,;ANNO=splicing:ZNF649
19	52627303	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF616(NM_178523:c.12-1G>A)
19	52934741	.	A	C	100	PASS	AC=193;STUDIES=17;MAC=193;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:ZNF534:NM_001143939:exon1:c.A14C:p.Q5P,ZNF534:NM_001143938:exon1:c.A14C:p.Q5P,;ANNO=splicing:ZNF534
19	53008035	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:ZNF578(NM_001099694:c.190+1G>A)
19	53217269	.	C	T	100	PASS	AC=17;STUDIES=3;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:ZNF611:NM_030972:exon6:c.G189A:p.V63V,ZNF611:NM_001161500:exon4:c.G189A:p.V63V,ZNF611:NM_001161499:exon5:c.G189A:p.V63V,;ANNO=splicing:ZNF611
19	53352341	.	C	G	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:ZNF468:NM_001008801:exon3:c.G141C:p.L47L,;ANNO=splicing:ZNF468
19	53352466	.	C	T	100	PASS	AC=15;STUDIES=4;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:ZNF468:NM_001008801:exon3:c.G16A:p.G6S,;ANNO=splicing:ZNF468
19	53652493	.	C	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:ZNF347(NM_001172675:c.142+1G>T,NM_001172674:c.142+1G>T,NM_032584:c.142+1G>T)
19	53993629	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:ZNF813:NM_001004301:exon4:c.A143C:p.D48A,;ANNO=splicing:ZNF813
19	54301668	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NLRP12(NM_144687:c.2756-1G>T)
19	54304481	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NLRP12:NM_144687:exon7:c.G2756A:p.R919Q,NLRP12:NM_033297:exon5:c.G605A:p.R202Q,;ANNO=splicing:NLRP12
19	54304482	.	G	A	100	PASS	AC=81;STUDIES=10;MAC=81;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NLRP12:NM_144687:exon7:c.C2755T:p.R919W,NLRP12:NM_033297:exon5:c.C604T:p.R202W,;ANNO=splicing:NLRP12
19	54318241	.	A	G	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NLRP12:NM_144687:exon2:c.T291C:p.D97D,;ANNO=splicing:NLRP12
19	54387497	.	C	T	100	PASS	AC=473;STUDIES=15;MAC=473;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PRKCG:NM_002739:exon3:c.C285T:p.D95D,;ANNO=splicing:PRKCG
19	54545034	.	G	A	100	PASS	AC=23;STUDIES=4;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VSTM1:NM_198481:exon8:c.C590T:p.S197L,;ANNO=splicing:VSTM1
19	54545531	.	T	C	100	PASS	AC=9749;STUDIES=22;MAC=9749;MAF=0.403;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:VSTM1:NM_198481:exon5:c.A487G:p.S163G,;ANNO=splicing:VSTM1
19	54561561	.	T	C	100	PASS	AC=532;STUDIES=19;MAC=532;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:VSTM1:NM_198481:exon3:c.A354G:p.T118T,;ANNO=splicing:VSTM1
19	54611633	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TFPT:NM_013342:exon4:c.G423A:p.E141E,;ANNO=splicing:TFPT
19	54646666	.	G	A	100	PASS	AC=20;STUDIES=5;MAC=20;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:CNOT3
19	54655963	.	G	A	100	PASS	AC=11;STUDIES=5;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:CNOT3:NM_014516:exon14:c.G1606A:p.A536T,;ANNO=nonsynonymous:CNOT3:NM_014516:exon14:c.G1606C:p.A536P,;ANNO=splicing:CNOT3;ANNO=splicing:CNOT3
19	54663302	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LENG1:NM_024316:exon1:c.G132A:p.E44E,;ANNO=splicing:LENG1
19	54721187	.	C	T	100	PASS	AC=45;STUDIES=2;MAC=45;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:LILRB3(NM_001081450:c.1752+1G>A,NM_006864:c.1749+1G>A)
19	54722230	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LILRB3:NM_006864:exon11:c.G1593A:p.Q531Q,LILRB3:NM_001081450:exon11:c.G1593A:p.Q531Q,;ANNO=splicing:LILRB3
19	54722515	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LILRB3:NM_006864:exon10:c.C1539T:p.L513L,LILRB3:NM_001081450:exon10:c.C1539T:p.L513L,;ANNO=splicing:LILRB3
19	54726816	.	A	T	100	PASS	AC=1261;STUDIES=6;MAC=1261;MAF=0.242;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=9;ANNO=synonymous:LILRB3:NM_006864:exon1:c.T33A:p.L11L,LILRB3:NM_001081450:exon1:c.T33A:p.L11L,;ANNO=splicing:LILRB3
19	54742965	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LILRA6:NM_024318:exon8:c.C1310T:p.A437V,;ANNO=splicing:LILRA6
19	54755918	.	C	G	100	PASS	AC=307;STUDIES=10;MAC=307;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:LILRB5:NM_001081442:exon12:c.G1628C:p.R543P,LILRB5:NM_001081443:exon11:c.G1328C:p.R443P,LILRB5:NM_006840:exon12:c.G1625C:p.R542P,;ANNO=splicing:LILRB5
19	54756735	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LILRB5:NM_001081442:exon9:c.G1473A:p.S491S,LILRB5:NM_001081443:exon8:c.G1173A:p.S391S,LILRB5:NM_006840:exon9:c.G1470A:p.S490S,;ANNO=splicing:LILRB5
19	54757927	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LILRB5:NM_001081442:exon8:c.C1311T:p.G437G,LILRB5:NM_001081443:exon7:c.C1011T:p.G337G,LILRB5:NM_006840:exon8:c.C1308T:p.G436G,;ANNO=splicing:LILRB5
19	54761023	.	C	G	100	PASS	AC=45;STUDIES=15;MAC=45;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LILRB5:NM_001081442:exon1:c.G34C:p.G12R,LILRB5:NM_001081443:exon1:c.G34C:p.G12R,LILRB5:NM_006840:exon1:c.G34C:p.G12R,;ANNO=splicing:LILRB5
19	54779806	.	C	T	100	PASS	AC=22;STUDIES=10;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:LILRB2:NM_001080978:exon13:c.G1646A:p.R549Q,LILRB2:NM_005874:exon13:c.G1649A:p.R550Q,;ANNO=splicing:LILRB2
19	54780662	.	C	T	100	PASS	AC=356;STUDIES=20;MAC=356;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:LILRB2:NM_001080978:exon10:c.G1479A:p.S493S,LILRB2:NM_005874:exon10:c.G1482A:p.S494S,;ANNO=splicing:LILRB2
19	54802482	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:LILRA3(NM_001172654:c.766+1G>A,NM_006865:c.958+1G>A)
19	54803209	.	C	T	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=synonymous:LILRA3:NM_006865:exon4:c.G468A:p.L156L,LILRA3:NM_001172654:exon4:c.G468A:p.L156L,;ANNO=splicing:LILRA3
19	54803979	.	C	G	100	PASS	AC=66;STUDIES=12;MAC=66;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;HWE_FAILURES=3;ANNO=splicing:LILRA3(NM_001172654:c.34-1G>C,NM_006865:c.34-1G>C)
19	54823808	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:LILRA5:NM_021250:exon2:c.C87T:p.L29L,LILRA5:NM_181985:exon2:c.C87T:p.L29L,LILRA5:NM_181879:exon2:c.C87T:p.L29L,LILRA5:NM_181986:exon2:c.C87T:p.L29L,;ANNO=synonymous:LILRA5:NM_021250:exon2:c.C87A:p.L29L,LILRA5:NM_181985:exon2:c.C87A:p.L29L,LILRA5:NM_181879:exon2:c.C87A:p.L29L,LILRA5:NM_181986:exon2:c.C87A:p.L29L,;ANNO=splicing:LILRA5;ANNO=splicing:LILRA5
19	54824286	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LILRA5(NM_021250:c.3+1G>A,NM_181985:c.3+1G>A,NM_181879:c.3+1G>A,NM_181986:c.3+1G>A)
19	54850421	.	G	A	100	PASS	AC=68;STUDIES=2;MAC=68;MAF=0.048;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:LILRA4
19	54868098	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LAIR1(NM_002287:c.583+2T>C,NM_021706:c.532+2T>C)
19	54872815	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LAIR1:NM_021706:exon3:c.A72C:p.E24D,LAIR1:NM_002287:exon3:c.A72C:p.E24D,;ANNO=splicing:LAIR1
19	54876377	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LAIR1(NM_002287:c.34+1G>T,NM_021706:c.34+1G>T)
19	54937850	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TTYH1:NM_001005367:exon5:c.G639A:p.R213R,TTYH1:NM_001201461:exon5:c.G639A:p.R213R,TTYH1:NM_020659:exon5:c.G639A:p.R213R,;ANNO=splicing:TTYH1
19	54937944	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TTYH1:NM_001005367:exon5:c.G733A:p.V245M,TTYH1:NM_001201461:exon5:c.G733A:p.V245M,TTYH1:NM_020659:exon5:c.G733A:p.V245M,;ANNO=splicing:TTYH1
19	54941991	.	A	C	100	PASS	AC=52;STUDIES=13;MAC=52;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TTYH1:NM_001005367:exon9:c.A940C:p.R314R,TTYH1:NM_001201461:exon9:c.A940C:p.R314R,TTYH1:NM_020659:exon9:c.A940C:p.R314R,;ANNO=splicing:TTYH1
19	54962467	.	G	A	100	PASS	AC=1084;STUDIES=3;MAC=924;MAF=0.460;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:LENG8
19	54965860	.	G	A	100	PASS	AC=12808;STUDIES=20;MAC=8860;MAF=0.409;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=synonymous:LENG8:NM_052925:exon6:c.G678A:p.K226K,;ANNO=splicing:LENG8
19	55014914	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:LAIR2(NM_002288:c.34-2A>C,NM_021270:c.34-2A>C)
19	55014951	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LAIR2:NM_002288:exon2:c.G70C:p.G24R,LAIR2:NM_021270:exon2:c.G70C:p.G24R,;ANNO=splicing:LAIR2
19	55098667	.	G	A	100	PASS	AC=428;STUDIES=15;MAC=428;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;HWE_FAILURES=1;ANNO=splicing:LILRA2(NM_001130917:c.1306-1G>A,NM_006866:c.1255-1G>A)
19	55105743	.	A	G	100	PASS	AC=1233;STUDIES=11;MAC=1233;MAF=0.148;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=4;ANNO=nonsynonymous:LILRA1:NM_006863:exon2:c.A34G:p.R12G,;ANNO=splicing:LILRA1
19	55142557	.	C	T	100	PASS	AC=24;STUDIES=4;MAC=24;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:LILRB1:NM_001081639:exon2:c.C33T:p.L11L,LILRB1:NM_001081638:exon2:c.C33T:p.L11L,LILRB1:NM_006669:exon3:c.C33T:p.L11L,LILRB1:NM_001081637:exon2:c.C33T:p.L11L,;ANNO=splicing:LILRB1
19	55142951	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:LILRB1:NM_001081639:exon4:c.G71A:p.G24E,LILRB1:NM_001081638:exon4:c.G71A:p.G24E,LILRB1:NM_006669:exon5:c.G71A:p.G24E,LILRB1:NM_001081637:exon4:c.G71A:p.G24E,;ANNO=splicing:LILRB1
19	55174518	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LILRB4:NM_006847:exon1:c.C33T:p.L11L,LILRB4:NM_001081438:exon1:c.C33T:p.L11L,;ANNO=splicing:LILRB4
19	55174519	.	G	C	100	PASS	AC=82;STUDIES=13;MAC=82;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LILRB4:NM_006847:exon1:c.G34C:p.G12R,LILRB4:NM_001081438:exon1:c.G34C:p.G12R,;ANNO=splicing:LILRB4
19	55175636	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LILRB4(NM_001081438:c.355-1G>A,NM_006847:c.355-1G>A)
19	55177691	.	C	T	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LILRB4:NM_006847:exon8:c.C875T:p.A292V,LILRB4:NM_001081438:exon8:c.C875T:p.A292V,;ANNO=splicing:LILRB4
19	55178148	.	G	A	100	PASS	AC=380;STUDIES=12;MAC=380;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:LILRB4:NM_006847:exon10:c.G989A:p.C330Y,LILRB4:NM_001081438:exon10:c.G989A:p.C330Y,;ANNO=splicing:LILRB4
19	55178199	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:LILRB4:NM_006847:exon10:c.G1040A:p.R347Q,LILRB4:NM_001081438:exon10:c.G1040A:p.R347Q,;ANNO=splicing:LILRB4
19	55178201	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LILRB4(NM_001081438:c.1041+1G>T,NM_006847:c.1041+1G>T)
19	55179324	.	G	C	100	PASS	AC=218;STUDIES=5;MAC=218;MAF=0.037;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:LILRB4:NM_006847:exon12:c.G1201C:p.A401P,LILRB4:NM_001081438:exon12:c.G1198C:p.A400P,;ANNO=splicing:LILRB4
19	55236747	.	G	A	100	PASS	AC=128;STUDIES=3;MAC=128;MAF=0.049;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=3;ANNO=synonymous:KIR3DL3:NM_153443:exon2:c.G69A:p.V23V,;ANNO=splicing:KIR3DL3
19	55247288	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KIR3DL3:NM_153443:exon7:c.T1056C:p.N352N,;ANNO=splicing:KIR3DL3
19	55247339	.	G	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:KIR3DL3:NM_153443:exon7:c.G1107A:p.E369E,;ANNO=splicing:KIR3DL3
19	55250952	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:KIR2DL3(NM_015868:c.34-1G>A)
19	55250953	.	G	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:KIR2DL3:NM_015868:exon2:c.G35C:p.G12A,;ANNO=splicing:KIR2DL3
19	55315347	.	G	A	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:KIR2DL4:NM_001080772:exon2:c.G42A:p.G14G,KIR2DL4:NM_002255:exon2:c.G42A:p.G14G,KIR2DL4:NM_001080770:exon2:c.G42A:p.G14G,;ANNO=splicing:KIR2DL4
19	55325146	.	T	G	100	PASS	AC=18;STUDIES=7;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:KIR2DL4:NM_001080772:exon7:c.T812G:p.M271R,KIR2DL4:NM_002255:exon7:c.T812G:p.M271R,KIR2DL4:NM_001080770:exon6:c.T708G:p.D236E,;ANNO=splicing:KIR2DL4
19	55341382	.	G	C	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:KIR3DL1(NM_013289:c.1105-1G>C)
19	55349031	.	G	A	100	PASS	AC=665;STUDIES=10;MAC=665;MAF=0.118;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=8;ANNO=nonsynonymous:KIR2DS4:NM_012314:exon3:c.G71A:p.G24E,;ANNO=splicing:KIR2DS4
19	55377363	.	G	A	100	PASS	AC=15;STUDIES=3;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:KIR3DL2:NM_006737:exon7:c.G1104A:p.K368K,;ANNO=splicing:KIR3DL2
19	55451833	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NLRP7:NM_139176:exon4:c.T354G:p.G118G,NLRP7:NM_001127255:exon4:c.T354G:p.G118G,NLRP7:NM_206828:exon4:c.T354G:p.G118G,;ANNO=splicing:NLRP7
19	55492983	.	A	T	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NLRP2(NM_001174081:c.397-2A>T,NM_017852:c.397-2A>T,NM_001174083:c.328-2A>T)
19	55492986	.	G	C	100	PASS	AC=17;STUDIES=4;MAC=17;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NLRP2:NM_001174083:exon6:c.G330C:p.A110A,NLRP2:NM_017852:exon5:c.G399C:p.A133A,NLRP2:NM_001174081:exon5:c.G399C:p.A133A,;ANNO=splicing:NLRP2
19	55536640	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GP6(NM_016363:c.610-1G>A,NM_001083899:c.610-1G>A)
19	55558756	.	G	A	100	PASS	AC=63;STUDIES=11;MAC=63;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RDH13:NM_138412:exon7:c.C546T:p.L182L,RDH13:NM_001145971:exon6:c.C759T:p.L253L,;ANNO=splicing:RDH13
19	55592141	.	C	G	100	PASS	AC=19;STUDIES=2;MAC=19;MAF=0.047;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:EPS8L1:NM_133180:exon7:c.C431G:p.A144G,EPS8L1:NM_017729:exon2:c.C50G:p.A17G,;ANNO=splicing:EPS8L1
19	55593972	.	T	G	100	PASS	AC=117;STUDIES=2;MAC=117;MAF=0.023;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:EPS8L1(NM_133180:c.1214+2T>G,NM_017729:c.833+2T>G)
19	55607419	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PPP1R12C:NM_017607:exon8:c.G1153A:p.E385K,;ANNO=splicing:PPP1R12C
19	55610152	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PPP1R12C:NM_017607:exon6:c.C951T:p.D317D,;ANNO=splicing:PPP1R12C
19	55648472	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TNNT1:NM_001126133:exon10:c.C577T:p.R193W,TNNT1:NM_001126132:exon11:c.C610T:p.R204W,TNNT1:NM_003283:exon11:c.C610T:p.R204W,;ANNO=splicing:TNNT1
19	55671382	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C19orf51(NM_178837:c.1189-1G>A)
19	55676738	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C19orf51:NM_178837:exon4:c.G463A:p.E155K,;ANNO=splicing:C19orf51
19	55677785	.	C	T	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C19orf51:NM_178837:exon2:c.G138A:p.R46R,;ANNO=splicing:C19orf51
19	55690331	.	C	T	100	PASS	AC=48;STUDIES=5;MAC=48;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SYT5:NM_003180:exon2:c.G79A:p.V27M,;ANNO=splicing:SYT5
19	55697593	.	C	G	100	PASS	AC=32;STUDIES=4;MAC=32;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PTPRH:NM_002842:exon16:c.G2778C:p.R926R,PTPRH:NM_001161440:exon14:c.G2244C:p.R748R,;ANNO=splicing:PTPRH
19	55697594	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PTPRH:NM_002842:exon16:c.G2777A:p.R926Q,PTPRH:NM_001161440:exon14:c.G2243A:p.R748Q,;ANNO=splicing:PTPRH
19	55748011	.	C	T	100	PASS	AC=135;STUDIES=15;MAC=135;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PPP6R1:NM_014931:exon17:c.G1988A:p.R663Q,;ANNO=splicing:PPP6R1
19	55748337	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PPP6R1:NM_014931:exon16:c.G1753A:p.A585T,;ANNO=splicing:PPP6R1
19	55748338	.	G	A	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PPP6R1:NM_014931:exon16:c.C1752T:p.N584N,;ANNO=splicing:PPP6R1
19	55777350	.	C	T	100	PASS	AC=32;STUDIES=10;MAC=32;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HSPBP1:NM_012267:exon6:c.G797A:p.G266E,HSPBP1:NM_001130106:exon7:c.G797A:p.G266E,;ANNO=splicing:HSPBP1
19	55817817	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:BRSK1:NM_032430:exon17:c.G2088T:p.S696S,;ANNO=splicing:BRSK1
19	55832338	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMEM150B:NM_001085488:exon3:c.G67A:p.V23I,;ANNO=splicing:TMEM150B
19	55858325	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SUV420H2:NM_032701:exon9:c.C897T:p.A299A,;ANNO=splicing:SUV420H2
19	55889085	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TMEM190:NM_139172:exon3:c.C219T:p.D73D,;ANNO=splicing:TMEM190
19	55967213	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ISOC2(NM_001136201:c.138-1G>C,NM_024710:c.138-1G>C)
19	56001665	.	C	T	100	PASS	AC=237;STUDIES=6;MAC=237;MAF=0.044;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SSC5D:NM_001144950:exon5:c.C476T:p.A159V,SSC5D:NM_001195267:exon5:c.C476T:p.A159V,;ANNO=splicing:SSC5D
19	56056865	.	C	T	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SGK110:NM_001199824:exon1:c.G45A:p.E15E,;ANNO=splicing:SGK110
19	56135850	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZNF784:NM_203374:exon1:c.G78A:p.L26L,;ANNO=splicing:ZNF784
19	56204321	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EPN1:NM_001130072:exon9:c.C1182T:p.A394A,EPN1:NM_013333:exon8:c.C1104T:p.A368A,EPN1:NM_001130071:exon9:c.C1440T:p.A480A,;ANNO=splicing:EPN1
19	56226420	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NLRP9(NM_176820:c.2501+1G>A)
19	56226591	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NLRP9:NM_176820:exon6:c.G2331A:p.M777I,;ANNO=splicing:NLRP9
19	56369040	.	G	C	100	PASS	AC=23;STUDIES=7;MAC=23;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NLRP4:NM_134444:exon3:c.G281C:p.G94A,;ANNO=splicing:NLRP4
19	56373525	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NLRP4:NM_134444:exon5:c.C2186T:p.A729V,;ANNO=splicing:NLRP4
19	56382364	.	G	A	100	PASS	AC=18;STUDIES=7;MAC=18;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NLRP4(NM_134444:c.2525+1G>A)
19	56407485	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NLRP13:NM_176810:exon11:c.G2958A:p.G986G,;ANNO=splicing:NLRP13
19	56413402	.	T	G	100	PASS	AC=130;STUDIES=10;MAC=130;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NLRP13:NM_176810:exon9:c.A2788C:p.N930H,;ANNO=splicing:NLRP13
19	56467465	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NLRP8:NM_176811:exon3:c.G2041A:p.E681K,;ANNO=splicing:NLRP8
19	56482063	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NLRP8(NM_176811:c.2534+1G>A)
19	56552458	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:NLRP5:NM_153447:exon11:c.T2957C:p.M986T,;ANNO=splicing:NLRP5
19	56693620	.	C	G	100	PASS	AC=7544;STUDIES=20;MAC=7544;MAF=0.348;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:GALP:NM_033106:exon4:c.C216G:p.I72M,;ANNO=splicing:GALP
19	56694505	.	C	T	100	PASS	AC=7980;STUDIES=22;MAC=7980;MAF=0.335;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GALP:NM_033106:exon5:c.C219T:p.D73D,;ANNO=splicing:GALP
19	56733961	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:ZSCAN5A:NM_024303:exon4:c.C738T:p.P246P,;ANNO=splicing:ZSCAN5A
19	56901743	.	C	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF582(NM_144690:c.136+1G>T)
19	57705243	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZNF264:NM_003417:exon2:c.G34A:p.V12M,;ANNO=splicing:ZNF264
19	57742489	.	C	T	100	PASS	AC=405;STUDIES=2;MAC=77;MAF=0.160;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=7;ANNO=splicing:AURKC
19	57929280	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZNF17:NM_006959:exon2:c.G16A:p.D6N,;ANNO=splicing:ZNF17
19	57929407	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF17(NM_006959:c.142+1G>A)
19	57988645	.	C	T	100	PASS	AC=69;STUDIES=15;MAC=69;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF772:NM_001024596:exon1:c.G33A:p.Q11Q,ZNF772:NM_001144068:exon1:c.G33A:p.Q11Q,;ANNO=splicing:ZNF772
19	57999352	.	G	C	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:ZNF419(NM_001098496:c.33+1G>C,NM_001098495:c.33+1G>C,NM_001098494:c.33+1G>C,NM_024691:c.33+1G>C,NM_001098493:c.33+1G>C,NM_001098492:c.33+1G>C,NM_001098491:c.33+1G>C)
19	58002964	.	G	C	100	PASS	AC=6239;STUDIES=20;MAC=6239;MAF=0.293;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=2;ANNO=synonymous:ZNF419:NM_001098494:exon3:c.G201C:p.L67L,ZNF419:NM_024691:exon3:c.G198C:p.L66L,ZNF419:NM_001098493:exon2:c.G159C:p.L53L,ZNF419:NM_001098496:exon2:c.G159C:p.L53L,ZNF419:NM_001098492:exon2:c.G162C:p.L54L,ZNF419:NM_001098491:exon3:c.G201C:p.L67L,ZNF419:NM_001098495:exon2:c.G162C:p.L54L,;ANNO=splicing:ZNF419
19	58002965	.	G	A	100	PASS	AC=22;STUDIES=3;MAC=22;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:ZNF419:NM_001098494:exon3:c.G202A:p.G68S,ZNF419:NM_024691:exon3:c.G199A:p.G67R,ZNF419:NM_001098493:exon2:c.G160A:p.G54R,ZNF419:NM_001098496:exon2:c.G160A:p.G54S,ZNF419:NM_001098492:exon2:c.G163A:p.G55R,ZNF419:NM_001098491:exon3:c.G202A:p.G68R,ZNF419:NM_001098495:exon2:c.G163A:p.G55S,;ANNO=splicing:ZNF419
19	58003580	.	A	G	100	PASS	AC=6443;STUDIES=11;MAC=2781;MAF=0.301;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;HWE_FAILURES=3;ANNO=splicing:ZNF419(NM_024691:c.298+1A>G,NM_001098493:c.259+1A>G,NM_001098492:c.262+1A>G,NM_001098491:c.301+1A>G)
19	58016153	.	G	C	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:ZNF773:NM_198542:exon2:c.G162C:p.L54L,;ANNO=splicing:ZNF773
19	58048573	.	T	A	100	PASS	AC=101;STUDIES=6;MAC=101;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF549:NM_001199295:exon4:c.T201A:p.G67G,ZNF549:NM_153263:exon3:c.T162A:p.G54G,;ANNO=splicing:ZNF549
19	58090040	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF416:NM_017879:exon1:c.G33A:p.S11S,;ANNO=splicing:ZNF416
19	58196753	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZNF551:NM_138347:exon2:c.G157T:p.G53C,;ANNO=splicing:ZNF551
19	58258461	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:ZNF776(NM_173632:c.33+2T>A)
19	58427748	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:ZNF417:NM_152475:exon1:c.A32G:p.Q11R,;ANNO=splicing:ZNF417
19	58758161	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF544(NM_014480:c.244+1G>A)
19	58805464	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZNF8:NM_021089:exon4:c.C290T:p.A97V,;ANNO=splicing:ZNF8
19	58864657	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:A1BG(NM_130786:c.70+1G>T)
19	58989192	.	G	A	100	PASS	AC=15;STUDIES=8;MAC=15;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF446:NM_017908:exon3:c.G531A:p.V177V,;ANNO=splicing:ZNF446
19	58989454	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZNF446:NM_017908:exon4:c.C533T:p.A178V,;ANNO=splicing:ZNF446
19	59058964	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TRIM28:NM_005762:exon5:c.G723A:p.Q241Q,;ANNO=splicing:TRIM28
19	59080763	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MZF1:NM_198055:exon5:c.G653A:p.R218K,MZF1:NM_003422:exon5:c.G653A:p.R218K,;ANNO=splicing:MZF1
19	59082361	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:MZF1:NM_198055:exon2:c.G396A:p.W132X,MZF1:NM_003422:exon2:c.G396A:p.W132X,;ANNO=splicing:MZF1
20	168758	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DEFB128:NM_001037732:exon2:c.C51T:p.D17D,;ANNO=splicing:DEFB128
20	170263	.	A	T	100	PASS	AC=31;STUDIES=7;MAC=31;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DEFB128:NM_001037732:exon1:c.T2A:p.M1K,;ANNO=splicing:DEFB128
20	256727	.	T	A	100	PASS	AC=15305;STUDIES=22;MAC=8973;MAF=0.370;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C20orf96:NM_153269:exon10:c.A913T:p.I305F,C20orf96:NM_080571:exon10:c.A910T:p.I304F,;ANNO=splicing:C20orf96
20	258970	.	C	T	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C20orf96(NM_080571:c.562+1G>A,NM_153269:c.565+1G>A)
20	264603	.	C	T	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C20orf96(NM_080571:c.303+1G>A,NM_153269:c.306+1G>A)
20	409595	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RBCK1:NM_006462:exon10:c.G1183A:p.V395M,RBCK1:NM_031229:exon11:c.G1309A:p.V437M,;ANNO=splicing:RBCK1
20	1145119	.	G	A	100	PASS	AC=12;STUDIES=9;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PSMF1:NM_006814:exon6:c.G763A:p.G255R,PSMF1:NM_178578:exon7:c.G763A:p.G255R,;ANNO=splicing:PSMF1
20	1184297	.	T	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C20orf202(NM_001009612:c.135+2T>C)
20	1515086	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SIRPD:NM_178460:exon4:c.C579T:p.G193G,;ANNO=splicing:SIRPD
20	1515087	.	C	A	100	PASS	AC=22;STUDIES=4;MAC=22;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SIRPD:NM_178460:exon4:c.G578T:p.G193V,;ANNO=splicing:SIRPD
20	1532337	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:SIRPD:NM_178460:exon2:c.G421T:p.E141X,;ANNO=splicing:SIRPD
20	1558984	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:SIRPB1:NM_006065:exon2:c.G433A:p.A145T,SIRPB1:NM_001083910:exon2:c.G433A:p.E145K,;ANNO=splicing:SIRPB1
20	1558985	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:SIRPB1:NM_006065:exon2:c.C432T:p.R144R,SIRPB1:NM_001083910:exon2:c.C432T:p.R144R,;ANNO=splicing:SIRPB1
20	1592004	.	A	G	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:SIRPB1:NM_001135844:exon2:c.T432C:p.R144R,;ANNO=splicing:SIRPB1
20	1616832	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SIRPG(NM_018556:c.748+2T>A,NM_001039508:c.748+2T>A)
20	1896100	.	C	T	100	PASS	AC=9100;STUDIES=22;MAC=9100;MAF=0.376;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:SIRPA:NM_001040023:exon2:c.C435T:p.R145R,SIRPA:NM_080792:exon3:c.C435T:p.R145R,SIRPA:NM_001040022:exon3:c.C435T:p.R145R,;ANNO=splicing:SIRPA
20	2297997	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TGM3:NM_003245:exon7:c.G849A:p.A283A,;ANNO=splicing:TGM3
20	2398220	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TGM6(NM_198994:c.1678+1G>A)
20	2465304	.	T	A	100	PASS	AC=63;STUDIES=13;MAC=63;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF343(NM_024325:c.304-2A>T)
20	2473472	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZNF343(NM_024325:c.177-1G>A)
20	2474223	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZNF343:NM_024325:exon4:c.G119A:p.G40D,;ANNO=splicing:ZNF343
20	2559874	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMC2(NM_080751:c.727+1G>A)
20	2560595	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMC2(NM_080751:c.727-1G>T)
20	2597716	.	A	T	100	PASS	AC=103;STUDIES=15;MAC=103;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMC2(NM_080751:c.1940-2A>T)
20	2604916	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMC2(NM_080751:c.2180-1G>A)
20	2605044	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMC2(NM_080751:c.2306+2T>C)
20	2777088	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CPXM1:NM_001184699:exon9:c.G1047A:p.G349G,CPXM1:NM_019609:exon9:c.G1047A:p.G349G,;ANNO=splicing:CPXM1
20	2841617	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:VPS16:NM_080413:exon7:c.C632T:p.T211M,VPS16:NM_022575:exon7:c.C632T:p.T211M,;ANNO=splicing:VPS16
20	2842701	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:VPS16:NM_022575:exon11:c.G996A:p.A332A,;ANNO=splicing:VPS16
20	2847377	.	C	T	100	PASS	AC=77;STUDIES=2;MAC=77;MAF=0.039;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:VPS16
20	2988066	.	C	T	100	PASS	AC=18;STUDIES=7;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PTPRA:NM_080840:exon10:c.C879T:p.N293N,PTPRA:NM_002836:exon15:c.C906T:p.N302N,PTPRA:NM_080841:exon10:c.C879T:p.N293N,;ANNO=splicing:PTPRA
20	3103959	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UBOX5:NM_014948:exon2:c.A53G:p.K18R,UBOX5:NM_199415:exon2:c.A53G:p.K18R,;ANNO=splicing:UBOX5
20	3193872	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ITPA:NM_033453:exon2:c.C124T:p.L42L,ITPA:NM_181493:exon2:c.C73T:p.L25L,;ANNO=splicing:ITPA
20	3209353	.	C	G	100	PASS	AC=30;STUDIES=9;MAC=30;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=synonymous:SLC4A11:NM_001174090:exon18:c.G2322C:p.T774T,SLC4A11:NM_001174089:exon18:c.G2193C:p.T731T,SLC4A11:NM_032034:exon17:c.G2241C:p.T747T,;ANNO=splicing:SLC4A11
20	3211580	.	G	A	100	PASS	AC=54;STUDIES=10;MAC=54;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC4A11:NM_001174090:exon10:c.C1296T:p.I432I,SLC4A11:NM_001174089:exon10:c.C1167T:p.I389I,SLC4A11:NM_032034:exon9:c.C1215T:p.I405I,;ANNO=splicing:SLC4A11
20	3305540	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C20orf194:NM_001009984:exon14:c.C1264T:p.R422C,;ANNO=splicing:C20orf194
20	3515983	.	A	T	100	PASS	AC=66;STUDIES=14;MAC=66;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATRN:NM_139322:exon2:c.A494T:p.Q165L,ATRN:NM_001207047:exon2:c.A146T:p.Q49L,ATRN:NM_139321:exon2:c.A494T:p.Q165L,;ANNO=splicing:ATRN
20	3528135	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ATRN:NM_139322:exon5:c.G942A:p.Q314Q,ATRN:NM_001207047:exon5:c.G594A:p.Q198Q,ATRN:NM_139321:exon5:c.G942A:p.Q314Q,;ANNO=splicing:ATRN
20	3562780	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ATRN(NM_139322:c.2544-2A>C,NM_139321:c.2544-2A>C,NM_001207047:c.2196-2A>C)
20	3571953	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATRN:NM_139322:exon19:c.C3322T:p.P1108S,ATRN:NM_001207047:exon19:c.C2974T:p.P992S,ATRN:NM_139321:exon19:c.C3322T:p.P1108S,;ANNO=splicing:ATRN
20	3680105	.	G	A	100	PASS	AC=566;STUDIES=10;MAC=566;MAF=0.042;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SIGLEC1:NM_023068:exon7:c.C1530T:p.A510A,;ANNO=splicing:SIGLEC1
20	3680106	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:SIGLEC1:NM_023068:exon7:c.C1529T:p.A510V,;ANNO=splicing:SIGLEC1
20	3683845	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SIGLEC1:NM_023068:exon5:c.C1227T:p.N409N,;ANNO=splicing:SIGLEC1
20	3686995	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SIGLEC1:NM_023068:exon2:c.A408G:p.T136T,;ANNO=splicing:SIGLEC1
20	3726565	.	C	T	100	PASS	AC=398;STUDIES=21;MAC=398;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HSPA12B:NM_001197327:exon7:c.C559T:p.L187L,HSPA12B:NM_052970:exon7:c.C562T:p.L188L,;ANNO=splicing:HSPA12B
20	3729964	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HSPA12B:NM_001197327:exon9:c.A933G:p.A311A,HSPA12B:NM_052970:exon9:c.A936G:p.A312A,;ANNO=splicing:HSPA12B
20	3760000	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SPEF1(NM_015417:c.221-1G>A)
20	3780935	.	G	A	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CDC25B:NM_004358:exon4:c.G339A:p.T113T,CDC25B:NM_021873:exon4:c.G381A:p.T127T,CDC25B:NM_021872:exon4:c.G381A:p.T127T,;ANNO=splicing:CDC25B
20	3838457	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MAVS(NM_020746:c.292+1G>A)
20	3844904	.	T	G	100	PASS	AC=45;STUDIES=3;MAC=45;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MAVS:NM_001206491:exon5:c.T204G:p.G68G,MAVS:NM_020746:exon6:c.T627G:p.G209G,;ANNO=splicing:MAVS
20	3897573	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PANK2(NM_024960:c.539-1G>T,NM_153638:c.1412-1G>T,NM_153640:c.539-1G>T)
20	5155925	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CDS2:NM_003818:exon3:c.C291T:p.I97I,;ANNO=splicing:CDS2
20	5282687	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=stoploss:PROKR2:NM_144773:exon2:c.G1154T:p.X385L,;ANNO=splicing:PROKR2
20	5540587	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GPCPD1:NM_019593:exon17:c.A1531G:p.M511V,;ANNO=splicing:GPCPD1
20	5554614	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GPCPD1:NM_019593:exon11:c.C1003T:p.L335L,;ANNO=splicing:GPCPD1
20	7886800	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HAO1(NM_017545:c.721+1G>T)
20	8770822	.	C	T	100	PASS	AC=6474;STUDIES=22;MAC=6474;MAF=0.272;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PLCB1:NM_182734:exon31:c.C3337T:p.L1113L,PLCB1:NM_015192:exon31:c.C3337T:p.L1113L,;ANNO=splicing:PLCB1
20	9371261	.	C	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLCB4:NM_000933:exon14:c.C1322A:p.P441Q,PLCB4:NM_001172646:exon16:c.C1322A:p.P441Q,PLCB4:NM_182797:exon15:c.C1322A:p.P441Q,;ANNO=splicing:PLCB4
20	9459569	.	C	T	100	PASS	AC=19;STUDIES=8;MAC=19;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLCB4:NM_001172646:exon38:c.C3497T:p.A1166V,PLCB4:NM_182797:exon36:c.C3461T:p.A1154V,;ANNO=splicing:PLCB4
20	10036151	.	T	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ANKRD5:NM_198798:exon10:c.T2174G:p.I725S,ANKRD5:NM_022096:exon11:c.T2174G:p.I725S,;ANNO=splicing:ANKRD5
20	10653654	.	C	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:JAG1:NM_000214:exon2:c.G82C:p.V28L,;ANNO=splicing:JAG1
20	13740500	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ESF1:NM_016649:exon9:c.G1667A:p.G556D,;ANNO=splicing:ESF1
20	13750554	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ESF1:NM_016649:exon7:c.C1517T:p.T506M,;ANNO=splicing:ESF1
20	13755916	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ESF1:NM_016649:exon4:c.A1036G:p.I346V,;ANNO=splicing:ESF1
20	13769298	.	G	C	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C20orf7:NM_001039375:exon3:c.G327C:p.K109N,C20orf7:NM_024120:exon3:c.G327C:p.K109N,;ANNO=splicing:C20orf7
20	13894428	.	G	A	100	PASS	AC=31;STUDIES=7;MAC=31;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SEL1L2:NM_025229:exon5:c.C549T:p.N183N,;ANNO=splicing:SEL1L2
20	13899771	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SEL1L2(NM_025229:c.283-2A>G)
20	14066373	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MACROD2:NM_080676:exon3:c.C270T:p.A90A,;ANNO=splicing:MACROD2
20	14665605	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MACROD2:NM_080676:exon5:c.T418C:p.Y140H,;ANNO=splicing:MACROD2
20	15967446	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MACROD2:NM_001033087:exon10:c.G355A:p.E119K,MACROD2:NM_080676:exon14:c.G1060A:p.E354K,;ANNO=splicing:MACROD2
20	16354901	.	C	A	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:KIF16B(NM_024704:c.3350+1G>T,NM_001199866:c.3350+1G>T)
20	16721491	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:SNRPB2:NM_003092:exon7:c.G519A:p.Q173Q,SNRPB2:NM_198220:exon7:c.G519A:p.Q173Q,;ANNO=splicing:SNRPB2
20	17479685	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BFSP1:NM_001161705:exon6:c.A361G:p.T121A,BFSP1:NM_001195:exon6:c.A736G:p.T246A,;ANNO=splicing:BFSP1
20	17602103	.	C	T	100	PASS	AC=148;STUDIES=8;MAC=148;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RRBP1:NM_001042576:exon17:c.G2115A:p.T705T,RRBP1:NM_004587:exon16:c.G2115A:p.T705T,;ANNO=splicing:RRBP1
20	17606158	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RRBP1:NM_001042576:exon13:c.A1754G:p.N585S,RRBP1:NM_004587:exon12:c.A1754G:p.N585S,;ANNO=splicing:RRBP1
20	17607994	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RRBP1:NM_001042576:exon12:c.C1663T:p.R555C,RRBP1:NM_004587:exon11:c.C1663T:p.R555C,;ANNO=splicing:RRBP1
20	17610468	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RRBP1:NM_001042576:exon10:c.G1450A:p.E484K,RRBP1:NM_004587:exon9:c.G1450A:p.E484K,;ANNO=splicing:RRBP1
20	18142462	.	A	G	100	PASS	AC=1306;STUDIES=18;MAC=1306;MAF=0.062;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CSRP2BP(NM_020536:c.682-2A>G)
20	18377116	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C20orf12:NM_001099407:exon15:c.G1611A:p.K537K,;ANNO=splicing:C20orf12
20	18407803	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C20orf12:NM_001099407:exon10:c.G862A:p.E288K,;ANNO=splicing:C20orf12
20	18446020	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=splicing:C20orf12
20	18446022	.	C	A	100	PASS	AC=343;STUDIES=5;MAC=343;MAF=0.086;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_RIGHT;ANNO=splicing:C20orf12
20	18455717	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:POLR3F(NM_006466:c.316-2A>G)
20	18491700	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SEC23B:NM_032986:exon2:c.G221A:p.C74Y,SEC23B:NM_032985:exon2:c.G221A:p.C74Y,SEC23B:NM_001172746:exon2:c.G221A:p.C74Y,SEC23B:NM_006363:exon2:c.G221A:p.C74Y,SEC23B:NM_001172745:exon2:c.G221A:p.C74Y,;ANNO=splicing:SEC23B
20	18511446	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SEC23B:NM_032986:exon10:c.A1232G:p.K411R,SEC23B:NM_032985:exon10:c.A1232G:p.K411R,SEC23B:NM_001172746:exon10:c.A1178G:p.K393R,SEC23B:NM_006363:exon10:c.A1232G:p.K411R,SEC23B:NM_001172745:exon10:c.A1232G:p.K411R,;ANNO=splicing:SEC23B
20	18523663	.	T	C	100	PASS	AC=77;STUDIES=15;MAC=77;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SEC23B:NM_032986:exon14:c.T1512C:p.N504N,SEC23B:NM_032985:exon14:c.T1512C:p.N504N,SEC23B:NM_001172746:exon14:c.T1458C:p.N486N,SEC23B:NM_006363:exon14:c.T1512C:p.N504N,SEC23B:NM_001172745:exon14:c.T1512C:p.N504N,;ANNO=splicing:SEC23B
20	19679324	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC24A3:NM_020689:exon15:c.C1719T:p.Y573Y,;ANNO=splicing:SLC24A3
20	20029984	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CRNKL1:NM_016652:exon4:c.G779A:p.R260K,;ANNO=splicing:CRNKL1
20	20032934	.	A	G	100	PASS	AC=29;STUDIES=5;MAC=29;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CRNKL1(NM_016652:c.534+2T>C)
20	20055833	.	A	C	100	PASS	AC=18;STUDIES=6;MAC=18;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C20orf26:NM_015585:exon5:c.A372C:p.R124R,C20orf26:NM_001167816:exon4:c.A372C:p.R124R,;ANNO=splicing:C20orf26
20	20340855	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C20orf26:NM_015585:exon27:c.A3515G:p.E1172G,;ANNO=splicing:C20orf26
20	21337303	.	A	G	100	PASS	AC=38;STUDIES=6;MAC=38;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:XRN2:NM_012255:exon23:c.A2198G:p.Q733R,;ANNO=splicing:XRN2
20	21494049	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NKX2-2:NM_002509:exon1:c.C259T:p.L87L,;ANNO=splicing:NKX2-2
20	23424683	.	T	C	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CSTL1(NM_138283:c.330+2T>C)
20	24952096	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C20orf3:NM_020531:exon5:c.C538T:p.R180C,;ANNO=splicing:C20orf3
20	25269061	.	G	C	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PYGB:NM_002862:exon15:c.G1769C:p.R590P,;ANNO=splicing:PYGB
20	25284263	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ABHD12:NM_001042472:exon11:c.G952A:p.V318M,ABHD12:NM_015600:exon11:c.G952A:p.V318M,;ANNO=splicing:ABHD12
20	25436421	.	T	C	100	PASS	AC=21;STUDIES=3;MAC=21;MAF=0.036;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NINL:NM_025176:exon23:c.A3845G:p.E1282G,;ANNO=splicing:NINL
20	25439020	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NINL:NM_025176:exon22:c.G3842A:p.R1281Q,;ANNO=splicing:NINL
20	25443177	.	T	G	100	PASS	AC=55;STUDIES=17;MAC=55;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NINL:NM_025176:exon20:c.A3424C:p.N1142H,;ANNO=splicing:NINL
20	25456679	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NINL:NM_025176:exon17:c.G3248A:p.R1083K,;ANNO=splicing:NINL
20	25667101	.	A	G	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:ZNF337
20	29845559	.	A	G	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DEFB115:NM_001037730:exon1:c.A93G:p.P31P,;ANNO=splicing:DEFB115
20	29966194	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DEFB119:NM_173460:exon2:c.C62T:p.A21V,;ANNO=splicing:DEFB119
20	30232569	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COX4I2(NM_032609:c.379-2A>G)
20	30454955	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DUSP15:NM_080611:exon3:c.T57C:p.D19D,;ANNO=splicing:DUSP15
20	30496394	.	C	T	100	PASS	AC=20;STUDIES=4;MAC=20;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:TTLL9:NM_001008409:exon5:c.C207T:p.D69D,;ANNO=splicing:TTLL9
20	30513893	.	G	A	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TTLL9:NM_001008409:exon10:c.G747A:p.Q249Q,;ANNO=splicing:TTLL9
20	30521602	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TTLL9(NM_001008409:c.748-1G>C)
20	30659584	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HCK:NM_001172129:exon2:c.C119T:p.P40L,HCK:NM_001172132:exon3:c.C122T:p.P41L,HCK:NM_001172131:exon2:c.C119T:p.P40L,HCK:NM_001172130:exon2:c.C182T:p.P61L,HCK:NM_001172133:exon3:c.C119T:p.P40L,HCK:NM_002110:exon2:c.C182T:p.P61L,;ANNO=splicing:HCK
20	30661123	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:HCK:NM_001172129:exon3:c.G122A:p.G41E,HCK:NM_001172132:exon4:c.G125A:p.G42E,HCK:NM_001172131:exon3:c.G122A:p.G41E,HCK:NM_001172130:exon3:c.G185A:p.G62E,HCK:NM_001172133:exon4:c.G122A:p.G41E,HCK:NM_002110:exon3:c.G185A:p.G62E,;ANNO=splicing:HCK
20	30662426	.	A	G	100	PASS	AC=24;STUDIES=9;MAC=24;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:HCK:NM_001172129:exon5:c.A267G:p.E89E,HCK:NM_001172132:exon6:c.A270G:p.E90E,HCK:NM_001172131:exon5:c.A264G:p.E88E,HCK:NM_001172130:exon5:c.A327G:p.E109E,HCK:NM_001172133:exon6:c.A267G:p.E89E,HCK:NM_002110:exon5:c.A330G:p.E110E,;ANNO=splicing:HCK
20	30729301	.	A	G	100	PASS	AC=15;STUDIES=3;MAC=15;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:TM9SF4:NM_014742:exon4:c.A231G:p.G77G,;ANNO=splicing:TM9SF4
20	31294506	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COMMD7:NM_053041:exon4:c.G298A:p.G100S,COMMD7:NM_001099339:exon4:c.G295A:p.G99S,;ANNO=splicing:COMMD7
20	31315700	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COMMD7:NM_053041:exon3:c.G241T:p.G81C,COMMD7:NM_001099339:exon3:c.G238T:p.G80C,;ANNO=splicing:COMMD7
20	31381400	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DNMT3B:NM_006892:exon10:c.C1125T:p.Y375Y,;ANNO=splicing:DNMT3B
20	31381401	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DNMT3B:NM_006892:exon10:c.G1126A:p.E376K,;ANNO=splicing:DNMT3B
20	31384597	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DNMT3B:NM_175848:exon12:c.T1239C:p.D413D,DNMT3B:NM_006892:exon13:c.T1299C:p.D433D,DNMT3B:NM_175849:exon12:c.T1239C:p.D413D,DNMT3B:NM_001207055:exon11:c.T1113C:p.D371D,DNMT3B:NM_001207056:exon10:c.T1011C:p.D337D,DNMT3B:NM_175850:exon12:c.T1275C:p.D425D,;ANNO=splicing:DNMT3B
20	31386449	.	T	C	100	PASS	AC=10920;STUDIES=20;MAC=9906;MAF=0.476;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=2;ANNO=synonymous:DNMT3B:NM_175848:exon14:c.T1614C:p.Y538Y,DNMT3B:NM_006892:exon15:c.T1674C:p.Y558Y,DNMT3B:NM_175849:exon14:c.T1614C:p.Y538Y,DNMT3B:NM_001207055:exon13:c.T1488C:p.Y496Y,DNMT3B:NM_001207056:exon12:c.T1386C:p.Y462Y,DNMT3B:NM_175850:exon14:c.T1650C:p.Y550Y,;ANNO=splicing:DNMT3B
20	31387959	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:DNMT3B:NM_175848:exon16:c.G1700A:p.G567D,DNMT3B:NM_006892:exon17:c.G1760A:p.G587D,DNMT3B:NM_175849:exon16:c.G1700A:p.G567D,DNMT3B:NM_001207055:exon15:c.G1574A:p.G525D,DNMT3B:NM_001207056:exon14:c.G1472A:p.G491D,DNMT3B:NM_175850:exon16:c.G1736A:p.G579D,;ANNO=splicing:DNMT3B
20	31572990	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SUN5:NM_080675:exon12:c.G899A:p.G300D,;ANNO=splicing:SUN5
20	31572993	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SUN5(NM_080675:c.897-2A>T)
20	31584131	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SUN5:NM_080675:exon7:c.A424G:p.R142G,;ANNO=splicing:SUN5
20	31622097	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BPIL3(NM_174897:c.302+1G>A)
20	31624252	.	C	A	100	PASS	AC=82;STUDIES=11;MAC=82;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BPIL3:NM_174897:exon7:c.C579A:p.D193E,;ANNO=splicing:BPIL3
20	31643355	.	T	C	100	PASS	AC=28;STUDIES=10;MAC=28;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C20orf185(NM_182658:c.124+2T>C)
20	31647696	.	G	T	100	PASS	AC=171;STUDIES=14;MAC=171;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C20orf185(NM_182658:c.386-1G>T)
20	31657763	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C20orf185(NM_182658:c.1217+2T>C)
20	31659101	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C20orf185:NM_182658:exon12:c.C1260T:p.D420D,;ANNO=splicing:C20orf185
20	31659102	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C20orf185(NM_182658:c.1260+1G>A)
20	31660601	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C20orf185(NM_182658:c.1401+2T>C)
20	31673969	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C20orf186:NM_182519:exon5:c.G925A:p.G309R,;ANNO=splicing:C20orf186
20	31676772	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C20orf186:NM_182519:exon6:c.G927A:p.G309G,;ANNO=splicing:C20orf186
20	31680265	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C20orf186:NM_182519:exon9:c.C1145T:p.T382M,;ANNO=splicing:C20orf186
20	31695550	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C20orf186:NM_182519:exon15:c.C1745T:p.A582V,;ANNO=splicing:C20orf186
20	31761885	.	G	A	100	PASS	AC=46;STUDIES=3;MAC=46;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=synonymous:C20orf70:NM_080574:exon4:c.G303A:p.G101G,;ANNO=synonymous:C20orf70:NM_080574:exon4:c.G303T:p.G101G,;ANNO=splicing:C20orf70;ANNO=splicing:C20orf70
20	31761885	.	G	T	100	PASS	AC=56;STUDIES=8;MAC=56;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:C20orf70:NM_080574:exon4:c.G303A:p.G101G,;ANNO=synonymous:C20orf70:NM_080574:exon4:c.G303T:p.G101G,;ANNO=splicing:C20orf70;ANNO=splicing:C20orf70
20	31767473	.	G	A	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:C20orf70:NM_080574:exon7:c.G709A:p.D237N,;ANNO=splicing:C20orf70
20	31811616	.	G	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C20orf71(NM_178466:c.127-1G>T,NM_001042439:c.127-1G>T)
20	31814734	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C20orf71(NM_178466:c.621-2A>G,NM_001042439:c.513-2A>G)
20	31828192	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLUNC(NM_016583:c.581+1G>C,NM_130852:c.581+1G>C)
20	31829276	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PLUNC(NM_016583:c.666+1G>A,NM_130852:c.666+1G>A)
20	31873994	.	A	G	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C20orf114:NM_033197:exon2:c.A115G:p.K39E,;ANNO=splicing:C20orf114
20	31876547	.	A	G	100	PASS	AC=73;STUDIES=6;MAC=73;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C20orf114:NM_033197:exon3:c.A116G:p.K39R,;ANNO=splicing:C20orf114
20	31877799	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C20orf114(NM_033197:c.365+1G>A)
20	31897515	.	A	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C20orf114:NM_033197:exon16:c.A1397T:p.D466V,;ANNO=splicing:C20orf114
20	32000232	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SNTA1:NM_003098:exon5:c.C910T:p.L304L,;ANNO=splicing:SNTA1
20	32162067	.	G	C	100	PASS	AC=223;STUDIES=18;MAC=223;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CBFA2T2:NM_005093:exon2:c.G61C:p.V21L,;ANNO=splicing:CBFA2T2
20	32245838	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NECAB3:NM_031232:exon11:c.C1072T:p.H358Y,NECAB3:NM_031231:exon12:c.C970T:p.H324Y,;ANNO=splicing:NECAB3
20	32878358	.	G	A	100	PASS	AC=22;STUDIES=10;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:AHCY:NM_000687:exon7:c.C853T:p.R285W,AHCY:NM_001161766:exon7:c.C769T:p.R257W,;ANNO=splicing:AHCY
20	33000444	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ITCH:NM_031483:exon5:c.A336G:p.K112K,;ANNO=splicing:ITCH
20	33334731	.	T	G	100	PASS	AC=49;STUDIES=2;MAC=49;MAF=0.051;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NCOA6:NM_014071:exon10:c.A2794C:p.T932P,;ANNO=splicing:NCOA6
20	33356388	.	C	T	100	PASS	AC=22;STUDIES=8;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NCOA6:NM_014071:exon5:c.G393A:p.G131G,;ANNO=splicing:NCOA6
20	33567299	.	G	T	100	PASS	AC=75;STUDIES=15;MAC=75;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYH7B:NM_020884:exon6:c.G324T:p.K108N,;ANNO=splicing:MYH7B
20	33567464	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYH7B:NM_020884:exon7:c.G325A:p.V109M,;ANNO=splicing:MYH7B
20	33574793	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=splicing:MYH7B(NM_020884:c.1134+1G>A);ANNO=splicing:MYH7B(NM_020884:c.1134+1G>C)
20	33575089	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MYH7B:NM_020884:exon16:c.G1272A:p.E424E,;ANNO=splicing:MYH7B
20	33588792	.	C	T	100	PASS	AC=17;STUDIES=6;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYH7B:NM_020884:exon41:c.C5432T:p.A1811V,;ANNO=splicing:MYH7B
20	33589328	.	C	T	100	PASS	AC=68;STUDIES=6;MAC=68;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYH7B:NM_020884:exon43:c.C5801T:p.A1934V,;ANNO=splicing:MYH7B
20	33623110	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TRPC4AP:NM_199368:exon8:c.G867A:p.A289A,TRPC4AP:NM_015638:exon8:c.G867A:p.A289A,;ANNO=splicing:TRPC4AP
20	33764250	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PROCR(NM_006404:c.601+1G>T)
20	33842556	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MMP24:NM_006690:exon4:c.C816T:p.D272D,;ANNO=splicing:MMP24
20	33876761	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM83C:NM_178468:exon2:c.G514A:p.V172M,;ANNO=splicing:FAM83C
20	33971842	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UQCC:NM_018244:exon3:c.A224T:p.K75M,UQCC:NM_199487:exon3:c.A224T:p.K75M,;ANNO=splicing:UQCC
20	33999741	.	A	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UQCC(NM_001184977:c.24+2T>G,NM_018244:c.24+2T>G,NM_199487:c.24+2T>G)
20	34054790	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CEP250(NM_007186:c.492-1G>A)
20	34136617	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ERGIC3:NM_198398:exon7:c.C684T:p.H228H,ERGIC3:NM_015966:exon7:c.C684T:p.H228H,;ANNO=splicing:ERGIC3
20	34206009	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPAG4:NM_003116:exon5:c.C539T:p.A180V,;ANNO=splicing:SPAG4
20	34214723	.	T	C	100	PASS	AC=1216;STUDIES=22;MAC=1216;MAF=0.051;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CPNE1:NM_152927:exon16:c.A1239G:p.Q413Q,CPNE1:NM_152925:exon15:c.A1239G:p.Q413Q,CPNE1:NM_003915:exon15:c.A1254G:p.Q418Q,CPNE1:NM_152926:exon15:c.A1239G:p.Q413Q,CPNE1:NM_152928:exon16:c.A1239G:p.Q413Q,;ANNO=splicing:CPNE1(NM_001198863:c.1236-1A>G)
20	34215203	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CPNE1:NM_152927:exon15:c.C1235T:p.S412L,CPNE1:NM_152925:exon14:c.C1235T:p.S412L,CPNE1:NM_003915:exon14:c.C1250T:p.S417L,CPNE1:NM_152926:exon14:c.C1235T:p.S412L,CPNE1:NM_001198863:exon14:c.C1235T:p.S412L,CPNE1:NM_152928:exon15:c.C1235T:p.S412L,;ANNO=splicing:CPNE1
20	34220234	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CPNE1:NM_152927:exon5:c.C383T:p.T128M,CPNE1:NM_152925:exon4:c.C383T:p.T128M,CPNE1:NM_003915:exon4:c.C398T:p.T133M,CPNE1:NM_152926:exon4:c.C383T:p.T128M,CPNE1:NM_001198863:exon4:c.C383T:p.T128M,CPNE1:NM_152928:exon5:c.C383T:p.T128M,;ANNO=splicing:CPNE1
20	34317287	.	G	A	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stoploss:RBM39:NM_004902:exon6:c.A363T:p.X121C,RBM39:NM_184234:exon6:c.A363T:p.X121C,;ANNO=splicing:RBM39
20	34568543	.	C	T	100	PASS	AC=8;STUDIES=6;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C20orf152:NM_080834:exon4:c.C406T:p.R136W,C20orf152:NM_001207076:exon4:c.C406T:p.R136W,;ANNO=splicing:C20orf152
20	34568544	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C20orf152:NM_080834:exon4:c.G407A:p.R136Q,C20orf152:NM_001207076:exon4:c.G407A:p.R136Q,;ANNO=splicing:C20orf152
20	34618622	.	G	C	100	PASS	AC=88;STUDIES=2;MAC=88;MAF=0.027;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:C20orf152
20	34783252	.	C	T	100	PASS	AC=42;STUDIES=13;MAC=42;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:EPB41L1:NM_012156:exon13:c.C1451T:p.P484L,;ANNO=splicing:EPB41L1
20	35075339	.	G	A	100	PASS	AC=280;STUDIES=21;MAC=280;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DLGAP4:NM_014902:exon6:c.G1647A:p.P549P,;ANNO=splicing:DLGAP4
20	35422777	.	C	G	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA0889:NM_080627:exon14:c.G3708C:p.R1236S,;ANNO=splicing:KIAA0889(NM_199181:c.2993+1G>C)
20	35521264	.	G	T	100	PASS	AC=14;STUDIES=3;MAC=14;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C20orf118(NM_080628:c.665-1G>T)
20	35668688	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RBL1:NM_002895:exon14:c.G1771C:p.V591L,RBL1:NM_183404:exon14:c.G1771C:p.V591L,;ANNO=splicing:RBL1
20	35696591	.	T	A	100	PASS	AC=220;STUDIES=2;MAC=220;MAF=0.044;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RBL1(NM_002895:c.290-2A>T,NM_183404:c.290-2A>T)
20	35772121	.	T	C	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C20orf132:NM_213632:exon9:c.A1230G:p.P410P,C20orf132:NM_152503:exon10:c.A1335G:p.P445P,C20orf132:NM_213631:exon10:c.A1335G:p.P445P,;ANNO=splicing:C20orf132
20	35929815	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:MANBAL:NM_001003897:exon2:c.C149T:p.A50V,MANBAL:NM_022077:exon3:c.C149T:p.A50V,;ANNO=splicing:MANBAL
20	36694484	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:RPRD1B:NM_021215:exon6:c.C657T:p.D219D,;ANNO=splicing:RPRD1B
20	36760743	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:TGM2:NM_004613:exon11:c.G1775C:p.R592P,;ANNO=nonsynonymous:TGM2:NM_004613:exon11:c.G1775A:p.R592Q,;ANNO=splicing:TGM2;ANNO=splicing:TGM2
20	36779458	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TGM2:NM_198951:exon4:c.G435A:p.A145A,TGM2:NM_004613:exon4:c.G435A:p.A145A,;ANNO=splicing:TGM2
20	36850999	.	C	T	100	PASS	AC=25;STUDIES=5;MAC=25;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1755:NM_001029864:exon10:c.G2269A:p.E757K,;ANNO=splicing:KIAA1755
20	36851941	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:KIAA1755:NM_001029864:exon9:c.A2267G:p.Q756R,;ANNO=splicing:KIAA1755
20	36870331	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:KIAA1755:NM_001029864:exon3:c.G202A:p.A68T,;ANNO=splicing:KIAA1755
20	36932755	.	G	A	100	PASS	AC=11;STUDIES=7;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BPI:NM_001725:exon1:c.G142A:p.A48T,;ANNO=splicing:BPI
20	36937461	.	G	A	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:BPI(NM_001725:c.386+1G>A)
20	36955991	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BPI:NM_001725:exon11:c.A1175G:p.H392R,;ANNO=splicing:BPI
20	36962894	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BPI:NM_001725:exon13:c.C1347T:p.N449N,;ANNO=splicing:BPI
20	36977952	.	G	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LBP:NM_004139:exon2:c.G126A:p.A42A,;ANNO=splicing:LBP
20	36978066	.	G	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LBP(NM_004139:c.239+1G>T)
20	36989357	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LBP(NM_004139:c.588-1G>T)
20	36993231	.	G	A	100	PASS	AC=39;STUDIES=4;MAC=39;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LBP:NM_004139:exon8:c.G746A:p.G249D,;ANNO=splicing:LBP
20	36995471	.	G	A	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LBP:NM_004139:exon9:c.G980A:p.R327Q,;ANNO=splicing:LBP
20	36999382	.	G	A	100	PASS	AC=27;STUDIES=13;MAC=27;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LBP:NM_004139:exon11:c.G1150A:p.A384T,;ANNO=splicing:LBP
20	37384681	.	A	C	100	PASS	AC=69;STUDIES=6;MAC=69;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ACTR5:NM_024855:exon5:c.A1175C:p.E392A,;ANNO=splicing:ACTR5
20	37647448	.	T	G	100	PASS	AC=141;STUDIES=3;MAC=141;MAF=0.110;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DHX35:NM_001190809:exon14:c.T1311G:p.G437G,DHX35:NM_021931:exon15:c.T1404G:p.G468G,;ANNO=splicing:DHX35
20	39791176	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PLCG1:NM_002660:exon5:c.G597A:p.T199T,PLCG1:NM_182811:exon5:c.G597A:p.T199T,;ANNO=splicing:PLCG1
20	39791364	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PLCG1:NM_002660:exon6:c.C680T:p.T227M,PLCG1:NM_182811:exon6:c.C680T:p.T227M,;ANNO=splicing:PLCG1
20	39794007	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PLCG1:NM_002660:exon14:c.C1509T:p.H503H,PLCG1:NM_182811:exon14:c.C1509T:p.H503H,;ANNO=splicing:PLCG1
20	39974637	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LPIN3(NM_022896:c.192+2T>C)
20	39980462	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LPIN3:NM_022896:exon8:c.C1104T:p.G368G,;ANNO=splicing:LPIN3
20	39984674	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LPIN3:NM_022896:exon14:c.C1803T:p.I601I,;ANNO=splicing:LPIN3
20	39987182	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LPIN3:NM_022896:exon19:c.C2411T:p.T804M,;ANNO=splicing:LPIN3
20	40050719	.	C	T	100	PASS	AC=32;STUDIES=6;MAC=32;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CHD6:NM_032221:exon31:c.G4556A:p.G1519D,;ANNO=splicing:CHD6
20	40052133	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CHD6:NM_032221:exon30:c.C4554T:p.G1518G,;ANNO=splicing:CHD6
20	42203644	.	G	A	100	PASS	AC=79;STUDIES=17;MAC=79;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SGK2:NM_170693:exon10:c.G693A:p.L231L,SGK2:NM_001199264:exon10:c.G693A:p.L231L,SGK2:NM_016276:exon9:c.G873A:p.L291L,;ANNO=splicing:SGK2
20	42264652	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:IFT52:NM_016004:exon11:c.C1010T:p.A337V,;ANNO=splicing:IFT52
20	42264653	.	G	A	100	PASS	AC=782;STUDIES=21;MAC=782;MAF=0.033;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IFT52:NM_016004:exon11:c.G1011A:p.A337A,;ANNO=splicing:IFT52
20	42328683	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYBL2:NM_002466:exon7:c.C950T:p.S317L,;ANNO=splicing:MYBL2
20	42343775	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MYBL2:NM_002466:exon13:c.C1826T:p.P609L,;ANNO=splicing:MYBL2
20	42574679	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TOX2(NM_001098798:c.126+1G>C)
20	42602008	.	T	C	100	PASS	AC=15;STUDIES=9;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TOX2:NM_001098797:exon2:c.T101C:p.F34S,TOX2:NM_001098798:exon2:c.T128C:p.F43S,;ANNO=splicing:TOX2
20	42826379	.	C	T	100	PASS	AC=5676;STUDIES=22;MAC=5676;MAF=0.236;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:C20orf111:NM_016470:exon4:c.G192A:p.G64G,;ANNO=splicing:C20orf111
20	43047151	.	A	G	100	PASS	AC=55;STUDIES=5;MAC=55;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HNF4A:NM_001030003:exon6:c.A669G:p.L223L,HNF4A:NM_178850:exon6:c.A735G:p.L245L,HNF4A:NM_178849:exon6:c.A735G:p.L245L,HNF4A:NM_175914:exon6:c.A669G:p.L223L,HNF4A:NM_001030004:exon6:c.A669G:p.L223L,HNF4A:NM_000457:exon6:c.A735G:p.L245L,;ANNO=splicing:HNF4A
20	43353380	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:WISP2:NM_003881:exon3:c.G279A:p.L93L,;ANNO=splicing:WISP2
20	43378770	.	A	G	100	PASS	AC=11635;STUDIES=20;MAC=9925;MAF=0.460;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:KCNK15:NM_022358:exon2:c.A284G:p.E95G,;ANNO=splicing:KCNK15
20	43533771	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:YWHAB:NM_139323:exon4:c.C587T:p.T196M,YWHAB:NM_003404:exon5:c.C587T:p.T196M,;ANNO=splicing:YWHAB
20	43564137	.	G	A	100	PASS	AC=69;STUDIES=8;MAC=69;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PABPC1L:NM_001124756:exon11:c.G1550A:p.R517Q,;ANNO=splicing:PABPC1L
20	43836015	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SEMG1:NM_003007:exon2:c.G77A:p.G26D,;ANNO=splicing:SEMG1
20	43836016	.	T	C	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SEMG1:NM_003007:exon2:c.T78C:p.G26G,;ANNO=splicing:SEMG1
20	43922546	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MATN4(NM_030590:c.1564+2T>C,NM_003833:c.1687+2T>C,NM_030592:c.1441+2T>C)
20	43933437	.	C	T	100	PASS	AC=42;STUDIES=6;MAC=42;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MATN4:NM_003833:exon3:c.G74A:p.G25D,MATN4:NM_030592:exon3:c.G74A:p.G25D,MATN4:NM_030590:exon3:c.G74A:p.G25D,;ANNO=splicing:MATN4
20	43938333	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RBPJL(NM_014276:c.257+1G>T)
20	43942676	.	T	C	100	PASS	AC=1140;STUDIES=20;MAC=1140;MAF=0.049;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RBPJL:NM_014276:exon8:c.T759C:p.A253A,;ANNO=splicing:RBPJL
20	44002650	.	A	G	100	PASS	AC=308;STUDIES=11;MAC=308;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TP53TG5:NM_014477:exon5:c.T770C:p.V257A,;ANNO=splicing:TP53TG5
20	44002653	.	T	A	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=splicing:TP53TG5(NM_014477:c.768-2A>T)
20	44047493	.	G	T	100	PASS	AC=140;STUDIES=18;MAC=140;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PIGT:NM_015937:exon3:c.G367T:p.V123L,PIGT:NM_001184729:exon3:c.G367T:p.V123L,;ANNO=splicing:PIGT
20	44047933	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PIGT(NM_001184729:c.493-2A>G,NM_001184730:c.187-2A>G,NM_001184728:c.325-2A>G,NM_015937:c.493-2A>G)
20	44048972	.	A	C	100	PASS	AC=505;STUDIES=20;MAC=505;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PIGT:NM_001184730:exon5:c.A464C:p.D155A,PIGT:NM_015937:exon7:c.A770C:p.D257A,PIGT:NM_001184729:exon7:c.A770C:p.D257A,PIGT:NM_001184728:exon6:c.A602C:p.D201A,;ANNO=splicing:PIGT
20	44237301	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:WFDC9(NM_147198:c.239+1G>A)
20	44277896	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:WFDC11:NM_147197:exon4:c.C243T:p.V81V,;ANNO=splicing:WFDC11
20	44333556	.	C	A	100	PASS	AC=217;STUDIES=8;MAC=217;MAF=0.020;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:WFDC10B(NM_172131:c.74+1G>T);ANNO=splicing:WFDC10B(NM_172131:c.74+1G>A)
20	44352519	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SPINT4:NM_178455:exon2:c.A116T:p.D39V,;ANNO=splicing:SPINT4
20	44352696	.	C	T	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SPINT4:NM_178455:exon2:c.C293T:p.P98L,;ANNO=splicing:SPINT4
20	44472359	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ACOT8:NM_005469:exon5:c.C648T:p.G216G,;ANNO=splicing:ACOT8
20	44477088	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ACOT8(NM_005469:c.488+1G>A)
20	44578707	.	A	G	100	PASS	AC=81;STUDIES=8;MAC=81;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF335:NM_022095:exon23:c.T3489C:p.T1163T,;ANNO=splicing:ZNF335
20	44581348	.	G	A	100	PASS	AC=771;STUDIES=21;MAC=771;MAF=0.036;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZNF335:NM_022095:exon19:c.C2703T:p.S901S,;ANNO=splicing:ZNF335
20	44638505	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MMP9:NM_004994:exon2:c.G139A:p.E47K,;ANNO=splicing:MMP9
20	44639269	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MMP9:NM_004994:exon3:c.G519A:p.A173A,;ANNO=splicing:MMP9
20	44639954	.	G	C	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MMP9:NM_004994:exon5:c.G822C:p.E274D,;ANNO=splicing:MMP9
20	44983603	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SLC35C2:NM_173073:exon7:c.C516T:p.G172G,SLC35C2:NM_173179:exon7:c.C579T:p.G193G,SLC35C2:NM_015945:exon7:c.C579T:p.G193G,;ANNO=splicing:SLC35C2
20	44983713	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SLC35C2:NM_173073:exon6:c.C513T:p.L171L,SLC35C2:NM_173179:exon6:c.C576T:p.L192L,SLC35C2:NM_015945:exon6:c.C576T:p.L192L,;ANNO=splicing:SLC35C2
20	45212310	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC13A3(NM_001193340:c.875-2A>T,NM_001193339:c.971-2A>T,NM_001193342:c.827-2A>T,NM_022829:c.1121-2A>T,NM_001011554:c.980-2A>T)
20	45362395	.	G	T	100	PASS	AC=25;STUDIES=5;MAC=25;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:SLC2A10:NM_030777:exon5:c.G1548T:p.R516R,;ANNO=splicing:SLC2A10
20	46277841	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:NCOA3:NM_001174087:exon19:c.G3639C:p.Q1213H,NCOA3:NM_006534:exon19:c.G3639C:p.Q1213H,NCOA3:NM_181659:exon19:c.G3639C:p.Q1213H,NCOA3:NM_001174088:exon19:c.G3624C:p.Q1208H,;ANNO=splicing:NCOA3
20	46280019	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NCOA3:NM_001174087:exon20:c.T3942C:p.Y1314Y,NCOA3:NM_006534:exon20:c.T3933C:p.Y1311Y,NCOA3:NM_181659:exon20:c.T3945C:p.Y1315Y,NCOA3:NM_001174088:exon20:c.T3918C:p.Y1306Y,;ANNO=splicing:NCOA3
20	46290517	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SULF2:NM_198596:exon18:c.G2494A:p.D832N,SULF2:NM_018837:exon18:c.G2494A:p.G832R,SULF2:NM_001161841:exon18:c.G2494A:p.G832R,;ANNO=splicing:SULF2
20	46305367	.	G	A	100	PASS	AC=42;STUDIES=3;MAC=42;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SULF2:NM_198596:exon10:c.C1251T:p.G417G,SULF2:NM_018837:exon10:c.C1251T:p.G417G,SULF2:NM_001161841:exon10:c.C1251T:p.G417G,;ANNO=splicing:SULF2
20	47245987	.	C	T	100	PASS	AC=16;STUDIES=6;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PREX1:NM_020820:exon37:c.G4766A:p.R1589K,;ANNO=splicing:PREX1
20	47268121	.	G	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PREX1:NM_020820:exon22:c.C2468A:p.A823D,;ANNO=splicing:PREX1
20	47273726	.	C	T	100	PASS	AC=4161;STUDIES=22;MAC=4161;MAF=0.172;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PREX1:NM_020820:exon18:c.G1975A:p.V659M,;ANNO=splicing:PREX1
20	47292732	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PREX1:NM_020820:exon14:c.A1664G:p.Q555R,;ANNO=splicing:PREX1
20	47570094	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ARFGEF2:NM_006420:exon6:c.T605G:p.L202W,;ANNO=splicing:ARFGEF2
20	47645205	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ARFGEF2:NM_006420:exon37:c.C5063T:p.T1688I,;ANNO=splicing:ARFGEF2
20	47679880	.	T	G	100	PASS	AC=12;STUDIES=9;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CSE1L:NM_001316:exon3:c.T227G:p.I76S,;ANNO=splicing:CSE1L
20	47707475	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CSE1L:NM_001316:exon21:c.G2281C:p.E761Q,;ANNO=splicing:CSE1L
20	47839969	.	A	G	100	PASS	AC=69;STUDIES=4;MAC=69;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DDX27:NM_017895:exon4:c.A558G:p.A186A,;ANNO=splicing:DDX27
20	47841650	.	G	A	100	PASS	AC=116;STUDIES=8;MAC=116;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DDX27:NM_017895:exon6:c.G607A:p.E203K,;ANNO=splicing:DDX27
20	47852688	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:DDX27:NM_017895:exon13:c.C1522T:p.R508C,;ANNO=splicing:DDX27
20	47853046	.	A	G	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DDX27:NM_017895:exon14:c.A1779G:p.Q593Q,;ANNO=splicing:DDX27
20	47859217	.	G	A	100	PASS	AC=8407;STUDIES=22;MAC=8407;MAF=0.346;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DDX27:NM_017895:exon19:c.G2296A:p.G766S,;ANNO=splicing:DDX27
20	47868064	.	C	T	100	PASS	AC=16;STUDIES=8;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNFX1:NM_021035:exon13:c.G3312A:p.K1104K,;ANNO=splicing:ZNFX1
20	48129617	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PTGIS:NM_000961:exon8:c.G1206A:p.E402E,;ANNO=splicing:PTGIS
20	48166725	.	G	T	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PTGIS:NM_000961:exon2:c.C76A:p.R26R,;ANNO=splicing:PTGIS
20	48429485	.	A	C	100	PASS	AC=145;STUDIES=11;MAC=145;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC9A8:NM_015266:exon1:c.A26C:p.E9A,;ANNO=splicing:SLC9A8
20	48471975	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SLC9A8:NM_015266:exon8:c.T570C:p.S190S,;ANNO=splicing:SLC9A8
20	49191191	.	A	G	100	PASS	AC=349;STUDIES=12;MAC=349;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PTPN1:NM_002827:exon5:c.A492G:p.T164T,;ANNO=splicing:PTPN1
20	49194958	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PTPN1:NM_002827:exon6:c.C494T:p.T165I,;ANNO=splicing:PTPN1
20	49203868	.	A	G	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FAM65C:NM_080829:exon22:c.T2742C:p.G914G,;ANNO=splicing:FAM65C
20	49209732	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FAM65C:NM_080829:exon18:c.G2202A:p.A734A,;ANNO=splicing:FAM65C
20	49225893	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FAM65C:NM_080829:exon8:c.G565A:p.D189N,;ANNO=splicing:FAM65C
20	49232539	.	C	A	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:FAM65C:NM_080829:exon4:c.G336T:p.L112L,;ANNO=splicing:FAM65C
20	49446916	.	A	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BCAS4:NM_198799:exon3:c.A353T:p.E118V,BCAS4:NM_001010974:exon3:c.A353T:p.E118V,BCAS4:NM_017843:exon3:c.A353T:p.E118V,;ANNO=splicing:BCAS4
20	49493023	.	A	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BCAS4:NM_198799:exon5:c.A490C:p.K164Q,BCAS4:NM_001010974:exon4:c.A355C:p.K119Q,BCAS4:NM_017843:exon6:c.A587C:p.E196A,;ANNO=splicing:BCAS4
20	50310547	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ATP9A:NM_006045:exon7:c.C642T:p.A214A,;ANNO=splicing:ATP9A
20	50312633	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ATP9A:NM_006045:exon6:c.C546T:p.N182N,;ANNO=splicing:ATP9A
20	50704932	.	C	T	100	PASS	AC=37;STUDIES=10;MAC=37;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:ZFP64:NM_199427:exon8:c.G1227A:p.T409T,;ANNO=splicing:ZFP64
20	50713913	.	C	T	100	PASS	AC=36;STUDIES=4;MAC=36;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZFP64:NM_199427:exon7:c.G975A:p.T325T,;ANNO=splicing:ZFP64
20	50781235	.	C	T	100	PASS	AC=14;STUDIES=4;MAC=14;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZFP64:NM_018197:exon4:c.G510A:p.T170T,ZFP64:NM_199426:exon4:c.G504A:p.T168T,ZFP64:NM_199427:exon4:c.G510A:p.T170T,ZFP64:NM_022088:exon3:c.G348A:p.T116T,;ANNO=splicing:ZFP64
20	50781298	.	T	A	100	PASS	AC=10;STUDIES=3;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ZFP64(NM_199427:c.448-2A>T,NM_199426:c.442-2A>T,NM_022088:c.286-2A>T,NM_018197:c.448-2A>T)
20	52573971	.	T	G	100	PASS	AC=3818;STUDIES=22;MAC=3818;MAF=0.157;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BCAS1:NM_003657:exon10:c.A1416C:p.Q472H,;ANNO=splicing:BCAS1
20	52591969	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BCAS1:NM_003657:exon8:c.T1141C:p.S381P,;ANNO=splicing:BCAS1
20	52601827	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BCAS1:NM_003657:exon7:c.A1139T:p.K380M,;ANNO=splicing:BCAS1
20	52611552	.	G	A	100	PASS	AC=846;STUDIES=14;MAC=846;MAF=0.056;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=2;ANNO=nonsynonymous:BCAS1:NM_003657:exon6:c.C926T:p.T309M,;ANNO=splicing:BCAS1
20	54945542	.	C	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:AURKA:NM_198436:exon9:c.G1028A:p.R343Q,AURKA:NM_003600:exon8:c.G1028A:p.R343Q,AURKA:NM_198435:exon8:c.G1028A:p.R343Q,AURKA:NM_198437:exon8:c.G1028A:p.R343Q,AURKA:NM_198434:exon9:c.G1028A:p.R343Q,AURKA:NM_198433:exon10:c.G1028A:p.R343Q,;ANNO=splicing:AURKA
20	54970776	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CSTF1:NM_001033521:exon2:c.C168T:p.L56L,CSTF1:NM_001033522:exon2:c.C168T:p.L56L,CSTF1:NM_001324:exon2:c.C168T:p.L56L,;ANNO=splicing:CSTF1
20	54974412	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CSTF1:NM_001033521:exon5:c.G1035A:p.T345T,CSTF1:NM_001033522:exon5:c.G1035A:p.T345T,CSTF1:NM_001324:exon5:c.G1035A:p.T345T,;ANNO=splicing:CSTF1
20	55111228	.	G	A	100	PASS	AC=277;STUDIES=15;MAC=277;MAF=0.017;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C20orf107:NM_001013646:exon2:c.G250A:p.E84K,;ANNO=splicing:C20orf107
20	55777679	.	C	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:BMP7:NM_001719:exon3:c.G612C:p.R204S,;ANNO=splicing:BMP7
20	55931594	.	C	T	100	PASS	AC=356;STUDIES=20;MAC=356;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:RAE1:NM_003610:exon4:c.C288T:p.D96D,RAE1:NM_001015885:exon4:c.C288T:p.D96D,;ANNO=splicing:RAE1
20	55948719	.	C	T	100	PASS	AC=477;STUDIES=13;MAC=477;MAF=0.030;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:RAE1:NM_003610:exon10:c.C750T:p.P250P,RAE1:NM_001015885:exon10:c.C750T:p.P250P,;ANNO=splicing:RAE1
20	56138621	.	A	G	100	PASS	AC=2420;STUDIES=22;MAC=2420;MAF=0.100;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PCK1:NM_002591:exon6:c.A799G:p.I267V,;ANNO=splicing:PCK1
20	56140096	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PCK1:NM_002591:exon9:c.G1319T:p.G440V,;ANNO=splicing:PCK1
20	56185205	.	C	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=nonsynonymous:ZBP1:NM_001160417:exon7:c.G1090C:p.G364R,ZBP1:NM_001160418:exon6:c.G868C:p.G290R,ZBP1:NM_030776:exon7:c.G1093C:p.G365R,;ANNO=splicing:ZBP1
20	56188219	.	C	T	100	PASS	AC=197;STUDIES=18;MAC=197;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZBP1:NM_001160419:exon5:c.G670A:p.G224S,ZBP1:NM_001160417:exon5:c.G667A:p.G223S,ZBP1:NM_001160418:exon4:c.G445A:p.G149S,ZBP1:NM_030776:exon5:c.G670A:p.G224S,;ANNO=splicing:ZBP1
20	56188385	.	T	C	100	PASS	AC=74;STUDIES=7;MAC=74;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZBP1:NM_001160419:exon5:c.A504G:p.E168E,ZBP1:NM_001160418:exon4:c.A279G:p.E93E,ZBP1:NM_030776:exon5:c.A504G:p.E168E,;ANNO=splicing:ZBP1(NM_001160417:c.502-2A>G)
20	56735717	.	G	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C20orf85:NM_178456:exon4:c.G253T:p.V85F,;ANNO=splicing:C20orf85
20	57276073	.	A	C	100	PASS	AC=41;STUDIES=7;MAC=41;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NPEPL1:NM_024663:exon6:c.A681C:p.G227G,NPEPL1:NM_001204872:exon7:c.A597C:p.G199G,NPEPL1:NM_001204873:exon7:c.A537C:p.G179G,;ANNO=splicing:NPEPL1
20	57478846	.	C	T	100	PASS	AC=111;STUDIES=13;MAC=111;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GNAS:NM_080426:exon4:c.C390T:p.P130P,GNAS:NM_001077489:exon4:c.C387T:p.P129P,GNAS:NM_080425:exon5:c.C2361T:p.P787P,GNAS:NM_000516:exon5:c.C432T:p.P144P,GNAS:NM_001077488:exon5:c.C435T:p.P145P,;ANNO=splicing:GNAS
20	57484633	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GNAS:NM_080426:exon8:c.C675T:p.N225N,GNAS:NM_001077489:exon8:c.C672T:p.N224N,GNAS:NM_080425:exon9:c.C2646T:p.N882N,GNAS:NM_000516:exon9:c.C717T:p.N239N,GNAS:NM_001077488:exon9:c.C720T:p.N240N,;ANNO=splicing:GNAS
20	57564695	.	C	T	100	PASS	AC=2108;STUDIES=21;MAC=2108;MAF=0.089;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TH1L:NM_198976:exon6:c.C684T:p.A228A,;ANNO=splicing:TH1L
20	57612336	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLMO2(NM_016045:c.201-1G>C)
20	58441644	.	T	C	100	PASS	AC=165;STUDIES=11;MAC=165;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYCP2:NM_014258:exon39:c.A4126G:p.I1376V,;ANNO=splicing:SYCP2
20	58444852	.	C	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SYCP2(NM_014258:c.3741+1G>C)
20	58547177	.	C	A	100	PASS	AC=19;STUDIES=5;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CDH26:NM_177980:exon4:c.C392A:p.T131K,;ANNO=splicing:CDH26
20	58557976	.	A	G	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDH26(NM_177980:c.393-2A>G)
20	58558126	.	G	A	100	PASS	AC=13;STUDIES=6;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDH26(NM_177980:c.541+1G>A)
20	58560057	.	C	T	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CDH26:NM_177980:exon7:c.C710T:p.T237I,;ANNO=splicing:CDH26
20	58576466	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:CDH26:NM_021810:exon3:c.G165A:p.W55X,CDH26:NM_177980:exon15:c.G2166A:p.W722X,;ANNO=splicing:CDH26
20	58577923	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CDH26(NM_177980:c.2220+2T>C,NM_021810:c.219+2T>C)
20	58581768	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CDH26:NM_021810:exon5:c.G220C:p.A74P,CDH26:NM_177980:exon17:c.G2221C:p.A741P,;ANNO=splicing:CDH26
20	60470103	.	G	A	100	PASS	AC=8;STUDIES=7;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CDH4:NM_001794:exon8:c.G1188A:p.T396T,;ANNO=splicing:CDH4
20	60503480	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=synonymous:CDH4:NM_001794:exon12:c.C2004T:p.N668N,;ANNO=splicing:CDH4
20	60503481	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:CDH4:NM_001794:exon12:c.G2005A:p.G669S,;ANNO=splicing:CDH4
20	60585103	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TAF4:NM_003185:exon4:c.C1760T:p.T587M,;ANNO=splicing:TAF4
20	60705007	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LSM14B:NM_144703:exon4:c.C594T:p.S198S,;ANNO=splicing:LSM14B
20	60793712	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HRH3:NM_007232:exon2:c.C252T:p.G84G,;ANNO=splicing:HRH3
20	60886149	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;SNP_ON_LEFT;SNP_ON_RIGHT;DESIGN_FAILED;ANNO=nonsynonymous:LAMA5:NM_005560:exon74:c.C10090G:p.P3364A,;ANNO=splicing:LAMA5
20	60887230	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LAMA5:NM_005560:exon69:c.C9503T:p.P3168L,;ANNO=splicing:LAMA5
20	60890262	.	G	A	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:LAMA5:NM_005560:exon59:c.C7869T:p.D2623D,;ANNO=splicing:LAMA5
20	60898833	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LAMA5:NM_005560:exon44:c.C5848T:p.R1950W,;ANNO=splicing:LAMA5
20	60902022	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LAMA5:NM_005560:exon39:c.G5113A:p.V1705M,;ANNO=splicing:LAMA5
20	60911396	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LAMA5:NM_005560:exon18:c.C2323T:p.R775C,;ANNO=splicing:LAMA5
20	60911500	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:LAMA5:NM_005560:exon18:c.C2219T:p.A740V,;ANNO=splicing:LAMA5
20	60921563	.	G	A	100	PASS	AC=16;STUDIES=4;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:LAMA5:NM_005560:exon9:c.C1281T:p.R427R,;ANNO=splicing:LAMA5
20	61048460	.	A	G	100	PASS	AC=25;STUDIES=8;MAC=25;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:GATA5:NM_080473:exon3:c.T698C:p.L233P,;ANNO=splicing:GATA5
20	61299535	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=stopgain:SLCO4A1:NM_016354:exon9:c.C1810T:p.R604X,;ANNO=splicing:SLCO4A1
20	61386238	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NTSR1:NM_002531:exon2:c.C916T:p.R306C,;ANNO=splicing:NTSR1
20	61389708	.	C	T	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NTSR1:NM_002531:exon3:c.C1007T:p.P336L,;ANNO=splicing:NTSR1
20	61391370	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=synonymous:NTSR1:NM_002531:exon4:c.G1008T:p.P336P,;ANNO=splicing:NTSR1
20	61449904	.	C	T	100	PASS	AC=8;STUDIES=5;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL9A3:NM_001853:exon3:c.C182T:p.P61L,;ANNO=splicing:COL9A3
20	61451333	.	G	A	100	PASS	AC=244;STUDIES=20;MAC=244;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=nonsynonymous:COL9A3:NM_001853:exon5:c.G308A:p.R103Q,;ANNO=splicing:COL9A3
20	61453161	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL9A3:NM_001853:exon8:c.C422G:p.P141R,;ANNO=splicing:COL9A3
20	61458171	.	C	T	100	PASS	AC=17;STUDIES=3;MAC=17;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL9A3:NM_001853:exon15:c.C791T:p.A264V,;ANNO=splicing:COL9A3
20	61458172	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:COL9A3:NM_001853:exon15:c.G792A:p.A264A,;ANNO=splicing:COL9A3
20	61460327	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:COL9A3:NM_001853:exon19:c.C1007T:p.P336L,;ANNO=splicing:COL9A3
20	61467684	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:COL9A3:NM_001853:exon28:c.C1547T:p.P516L,;ANNO=splicing:COL9A3
20	61467883	.	C	T	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL9A3:NM_001853:exon29:c.C1602T:p.S534S,;ANNO=splicing:COL9A3
20	61491478	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TCFL5:NM_006602:exon2:c.A830G:p.Q277R,;ANNO=splicing:TCFL5
20	61526162	.	C	T	100	PASS	AC=55;STUDIES=5;MAC=55;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DIDO1:NM_001193370:exon10:c.G2436A:p.E812E,DIDO1:NM_080797:exon10:c.G2436A:p.E812E,DIDO1:NM_001193369:exon10:c.G2436A:p.E812E,DIDO1:NM_033081:exon10:c.G2436A:p.E812E,;ANNO=splicing:DIDO1
20	61588315	.	G	T	100	PASS	AC=22;STUDIES=4;MAC=22;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC17A9(NM_022082:c.257+1G>T)
20	61588316	.	T	C	100	PASS	AC=21;STUDIES=3;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC17A9(NM_022082:c.257+2T>C)
20	61872136	.	T	C	100	PASS	AC=403;STUDIES=3;MAC=403;MAF=0.195;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:NKAIN4
20	61918917	.	C	T	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ARFGAP1:NM_175609:exon14:c.C937T:p.P313S,ARFGAP1:NM_018209:exon13:c.C913T:p.P305S,;ANNO=splicing:ARFGAP1
20	61938843	.	C	A	100	PASS	AC=151;STUDIES=11;MAC=151;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:COL20A1:NM_020882:exon6:c.C498A:p.A166A,;ANNO=splicing:COL20A1
20	61945244	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL20A1(NM_020882:c.2358+1G>A)
20	61951549	.	G	A	100	PASS	AC=13;STUDIES=5;MAC=13;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL20A1:NM_020882:exon24:c.G3075A:p.A1025A,;ANNO=splicing:COL20A1
20	61960936	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:COL20A1(NM_020882:c.3781-1G>A)
20	61987436	.	C	G	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CHRNA4:NM_000744:exon4:c.G274C:p.E92Q,;ANNO=splicing:CHRNA4
20	62119777	.	G	T	100	PASS	AC=19;STUDIES=6;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EEF1A2:NM_001958:exon8:c.C1266A:p.G422G,;ANNO=splicing:EEF1A2
20	62120272	.	G	A	100	PASS	AC=57;STUDIES=6;MAC=57;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EEF1A2:NM_001958:exon7:c.C1263T:p.L421L,;ANNO=splicing:EEF1A2
20	62165504	.	C	A	100	PASS	AC=36;STUDIES=2;MAC=36;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PTK6(NM_005975:c.516+1G>T)
20	62168437	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PTK6(NM_005975:c.230+1G>A)
20	62178461	.	G	A	100	PASS	AC=7;STUDIES=2;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SRMS:NM_080823:exon1:c.C356T:p.P119L,;ANNO=splicing:SRMS
20	62191282	.	G	A	100	PASS	AC=26;STUDIES=11;MAC=26;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PRIC285:NM_033405:exon13:c.C6117T:p.I2039I,PRIC285:NM_001037335:exon19:c.C7824T:p.I2608I,;ANNO=splicing:PRIC285
20	62309621	.	T	C	100	PASS	AC=26;STUDIES=8;MAC=26;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:RTEL1:NM_016434:exon12:c.T959C:p.M320T,RTEL1:NM_032957:exon12:c.T1031C:p.M344T,;ANNO=splicing:RTEL1
20	62326681	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:RTEL1:NM_016434:exon34:c.G3500A:p.G1167D,RTEL1:NM_032957:exon34:c.G3572A:p.G1191D,;ANNO=splicing:RTEL1
20	62365063	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ZGPAT:NM_181485:exon4:c.C843T:p.D281D,ZGPAT:NM_001195653:exon4:c.C843T:p.D281D,ZGPAT:NM_001083113:exon4:c.C843T:p.D281D,ZGPAT:NM_032527:exon4:c.C843T:p.D281D,ZGPAT:NM_001195654:exon4:c.C843T:p.D281D,;ANNO=splicing:ZGPAT
20	62366916	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZGPAT:NM_181485:exon6:c.G1397A:p.R466Q,ZGPAT:NM_001195653:exon6:c.G1397A:p.R466Q,ZGPAT:NM_001083113:exon6:c.G1397A:p.R466Q,ZGPAT:NM_032527:exon6:c.G1457A:p.R486Q,ZGPAT:NM_001195654:exon6:c.G1370A:p.R457Q,;ANNO=splicing:ZGPAT
20	62367134	.	C	G	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ZGPAT:NM_181485:exon7:c.C1399G:p.H467D,ZGPAT:NM_001195653:exon7:c.C1399G:p.H467D,ZGPAT:NM_001083113:exon7:c.C1399G:p.H467D,ZGPAT:NM_032527:exon7:c.C1459G:p.H487D,ZGPAT:NM_001195654:exon7:c.C1372G:p.H458D,;ANNO=splicing:ZGPAT
20	62577807	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:UCKL1:NM_001193379:exon2:c.C258T:p.I86I,UCKL1:NM_017859:exon2:c.C303T:p.I101I,;ANNO=splicing:UCKL1
20	62594448	.	G	A	100	PASS	AC=30;STUDIES=5;MAC=30;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ZNF512B:NM_020713:exon12:c.C1968T:p.P656P,;ANNO=splicing:ZNF512B
20	62608325	.	G	A	100	PASS	AC=38;STUDIES=6;MAC=38;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SAMD10:NM_080621:exon3:c.C444T:p.T148T,;ANNO=splicing:SAMD10
20	62859241	.	C	T	100	PASS	AC=57;STUDIES=5;MAC=57;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MYT1:NM_004535:exon18:c.C2592T:p.S864S,;ANNO=splicing:MYT1
20	62867998	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MYT1:NM_004535:exon20:c.C2988T:p.D996D,;ANNO=splicing:MYT1
21	10907041	.	C	A	100	PASS	AC=558;STUDIES=9;MAC=558;MAF=0.043;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:TPTE(NM_199259:c.1466-1G>T,NM_199260:c.1406-1G>T,NM_199261:c.1520-1G>T)
21	10910307	.	C	T	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=synonymous:TPTE:NM_199259:exon21:c.G1395A:p.S465S,TPTE:NM_199260:exon20:c.G1335A:p.S445S,TPTE:NM_199261:exon22:c.G1449A:p.S483S,;ANNO=splicing:TPTE
21	10914364	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:TPTE:NM_199259:exon20:c.C1301T:p.S434L,TPTE:NM_199260:exon19:c.C1241T:p.S414L,TPTE:NM_199261:exon21:c.C1355T:p.S452L,;ANNO=splicing:TPTE
21	10916370	.	G	A	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:TPTE:NM_199259:exon19:c.C1222T:p.R408C,TPTE:NM_199260:exon18:c.C1162T:p.R388C,TPTE:NM_199261:exon20:c.C1276T:p.R426C,;ANNO=splicing:TPTE
21	10920165	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TPTE(NM_199259:c.1035-1G>A,NM_199260:c.975-1G>A,NM_199261:c.1089-1G>A)
21	10921934	.	C	A	100	PASS	AC=234;STUDIES=13;MAC=234;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:TPTE:NM_199259:exon17:c.G1035T:p.K345N,TPTE:NM_199260:exon16:c.G975T:p.K325N,TPTE:NM_199261:exon18:c.G1089T:p.K363N,;ANNO=splicing:TPTE
21	10944668	.	C	T	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:TPTE:NM_199259:exon10:c.G512A:p.R171K,TPTE:NM_199260:exon9:c.G452A:p.R151K,TPTE:NM_199261:exon11:c.G566A:p.R189K,;ANNO=splicing:TPTE
21	10969129	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:TPTE(NM_199261:c.119-1G>A)
21	10970008	.	C	T	100	PASS	AC=311;STUDIES=14;MAC=311;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_REVERSE;SNP_ON_LEFT;ANNO=splicing:TPTE(NM_199259:c.119+1G>A,NM_199260:c.119+1G>A,NM_199261:c.119+1G>A)
21	11049621	.	G	A	100	PASS	AC=77;STUDIES=2;MAC=77;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=stopgain:BAGE3:NM_182481:exon4:c.C280T:p.R94X,BAGE2:NM_182482:exon4:c.C280T:p.R94X,;ANNO=splicing:BAGE2,BAGE3,BAGE4,BAGE5
21	11049623	.	T	C	100	PASS	AC=81;STUDIES=2;MAC=81;MAF=0.033;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:BAGE2(NM_182482:c.279-2A>G),BAGE3(NM_182481:c.279-2A>G),BAGE4(NM_181704:c.284-2A>G),BAGE5(NM_182484:c.283-2A>G)
21	11098723	.	T	C	100	PASS	AC=474;STUDIES=5;MAC=474;MAF=0.068;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;HWE_FAILURES=1;ANNO=splicing:BAGE(NM_001187:c.14+1A>G),BAGE4(NM_181704:c.14+1A>G),BAGE5(NM_182484:c.14+1A>G)
21	11098724	.	G	A	100	PASS	AC=126;STUDIES=4;MAC=126;MAF=0.024;EXON_REVERSE;SNP_ON_LEFT;SNP_ON_RIGHT;DESIGN_FAILED;ANNO=nonsynonymous:BAGE:NM_001187:exon1:c.C14T:p.A5V,BAGE5:NM_182484:exon1:c.C14T:p.A5V,BAGE4:NM_181704:exon1:c.C14T:p.A5V,;ANNO=splicing:BAGE,BAGE4,BAGE5
21	19642441	.	C	T	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMPRSS15:NM_002772:exon25:c.G2905A:p.G969R,;ANNO=splicing:TMPRSS15
21	19698749	.	C	T	100	PASS	AC=29;STUDIES=3;MAC=29;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMPRSS15:NM_002772:exon16:c.G1921A:p.E641K,;ANNO=splicing:TMPRSS15
21	19704489	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TMPRSS15:NM_002772:exon14:c.G1566A:p.T522T,;ANNO=splicing:TMPRSS15
21	19704490	.	G	A	100	PASS	AC=8;STUDIES=7;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMPRSS15:NM_002772:exon14:c.C1565T:p.T522M,;ANNO=splicing:TMPRSS15
21	19715821	.	A	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TMPRSS15(NM_002772:c.1428+2T>G)
21	22804429	.	C	T	100	PASS	AC=7;STUDIES=7;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NCAM2:NM_004540:exon12:c.C1482T:p.D494D,;ANNO=splicing:NCAM2
21	27107251	.	C	G	100	PASS	AC=92;STUDIES=6;MAC=92;MAF=0.012;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ATP5J:NM_001003701:exon1:c.G16C:p.G6R,;ANNO=splicing:ATP5J
21	27284273	.	A	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:APP:NM_201414:exon12:c.T1464C:p.D488D,APP:NM_001136129:exon11:c.T1296C:p.D432D,APP:NM_000484:exon14:c.T1689C:p.D563D,APP:NM_001136016:exon13:c.T1617C:p.D539D,APP:NM_001136130:exon13:c.T1521C:p.D507D,APP:NM_001204302:exon13:c.T1632C:p.D544D,APP:NM_201413:exon13:c.T1632C:p.D544D,APP:NM_001204301:exon14:c.T1689C:p.D563D,APP:NM_001136131:exon12:c.T1359C:p.D453D,APP:NM_001204303:exon12:c.T1464C:p.D488D,;ANNO=splicing:APP
21	27347383	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:APP:NM_201414:exon9:c.G1233A:p.R411R,APP:NM_001136129:exon8:c.G1065A:p.R355R,APP:NM_000484:exon11:c.G1458A:p.R486R,APP:NM_001136016:exon10:c.G1386A:p.R462R,APP:NM_001136130:exon10:c.G1290A:p.R430R,APP:NM_001204302:exon10:c.G1401A:p.R467R,APP:NM_201413:exon10:c.G1401A:p.R467R,APP:NM_001204301:exon11:c.G1458A:p.R486R,APP:NM_001136131:exon9:c.G1128A:p.R376R,APP:NM_001204303:exon9:c.G1233A:p.R411R,;ANNO=splicing:APP
21	27369674	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:APP(NM_000484:c.1090+1G>A,NM_001204301:c.1090+1G>A,NM_001136130:c.922+1G>A)
21	27462388	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:APP:NM_201414:exon3:c.G226A:p.V76I,APP:NM_001136129:exon2:c.G58A:p.V20I,APP:NM_000484:exon3:c.G226A:p.V76I,APP:NM_001136016:exon3:c.G211A:p.V71I,APP:NM_001136130:exon2:c.G58A:p.V20I,APP:NM_001204302:exon3:c.G226A:p.V76I,APP:NM_201413:exon3:c.G226A:p.V76I,APP:NM_001204301:exon3:c.G226A:p.V76I,APP:NM_001136131:exon3:c.G121A:p.V41I,APP:NM_001204303:exon3:c.G226A:p.V76I,;ANNO=splicing:APP
21	27484463	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:APP:NM_201414:exon2:c.G58A:p.V20I,APP:NM_000484:exon2:c.G58A:p.V20I,APP:NM_001136016:exon2:c.G43A:p.V15I,APP:NM_001204302:exon2:c.G58A:p.V20I,APP:NM_201413:exon2:c.G58A:p.V20I,APP:NM_001204301:exon2:c.G58A:p.V20I,APP:NM_001204303:exon2:c.G58A:p.V20I,;ANNO=splicing:APP
21	27938584	.	C	T	100	PASS	AC=31;STUDIES=12;MAC=31;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CYYR1(NM_052954:c.176+1G>A)
21	28212379	.	G	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ADAMTS1:NM_006988:exon6:c.C1667T:p.T556M,;ANNO=splicing:ADAMTS1
21	28327059	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ADAMTS5:NM_007038:exon2:c.C1236T:p.I412I,;ANNO=splicing:ADAMTS5
21	30380560	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RWDD2B(NM_016940:c.362+1G>A)
21	30380941	.	T	A	100	PASS	AC=8;STUDIES=4;MAC=8;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RWDD2B:NM_016940:exon2:c.A69T:p.E23D,;ANNO=splicing:RWDD2B
21	30414335	.	T	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:USP16:NM_001001992:exon11:c.T1029C:p.D343D,USP16:NM_006447:exon11:c.T1032C:p.D344D,USP16:NM_001032410:exon12:c.T1032C:p.D344D,;ANNO=splicing:USP16
21	30414793	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:USP16:NM_001001992:exon12:c.G1120A:p.V374I,USP16:NM_006447:exon12:c.G1123A:p.V375I,USP16:NM_001032410:exon13:c.G1123A:p.V375I,;ANNO=splicing:USP16
21	30439213	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:CCT8:NM_006585:exon5:c.C561T:p.C187C,;ANNO=splicing:CCT8
21	30926024	.	G	A	100	PASS	AC=44;STUDIES=9;MAC=44;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=nonsynonymous:GRIK1:NM_000830:exon17:c.C2609T:p.A870V,;ANNO=nonsynonymous:GRIK1:NM_000830:exon17:c.C2609A:p.A870D,;ANNO=splicing:GRIK1;ANNO=splicing:GRIK1
21	30963545	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GRIK1:NM_175611:exon9:c.A1207G:p.I403V,GRIK1:NM_000830:exon10:c.A1252G:p.I418V,;ANNO=splicing:GRIK1
21	33362489	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HUNK:NM_014586:exon9:c.G1305C:p.Q435H,;ANNO=splicing:HUNK
21	33647140	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MIS18A(NM_018944:c.401+1G>A)
21	33691527	.	C	T	100	PASS	AC=127;STUDIES=5;MAC=127;MAF=0.022;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:URB1:NM_014825:exon36:c.G5792A:p.R1931K,;ANNO=splicing:URB1
21	33727758	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:URB1:NM_014825:exon16:c.C2106T:p.R702R,;ANNO=splicing:URB1
21	34004111	.	C	T	100	PASS	AC=23;STUDIES=4;MAC=23;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYNJ1:NM_003895:exon32:c.G4033A:p.V1345I,SYNJ1:NM_001160306:exon28:c.G3775A:p.V1259I,;ANNO=splicing:SYNJ1
21	34012088	.	G	A	100	PASS	AC=44;STUDIES=13;MAC=44;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYNJ1:NM_003895:exon30:c.C3707T:p.T1236M,SYNJ1:NM_001160302:exon29:c.C3542T:p.T1181M,SYNJ1:NM_203446:exon30:c.C3707T:p.T1236M,SYNJ1:NM_001160306:exon26:c.C3449T:p.T1150M,;ANNO=splicing:SYNJ1
21	34015767	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SYNJ1:NM_003895:exon27:c.G3548A:p.G1183D,SYNJ1:NM_203446:exon27:c.G3548A:p.G1183D,;ANNO=splicing:SYNJ1
21	34615977	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IFNAR2(NM_000874:c.55-1G>A,NM_207585:c.55-1G>A,NM_207584:c.55-1G>A)
21	34655545	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IL10RB:NM_000628:exon5:c.C645T:p.D215D,;ANNO=splicing:IL10RB
21	34721397	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:IFNAR1:NM_000629:exon7:c.C789T:p.H263H,;ANNO=splicing:IFNAR1
21	34721398	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:IFNAR1:NM_000629:exon7:c.G790A:p.A264T,;ANNO=nonsynonymous:IFNAR1:NM_000629:exon7:c.G790C:p.A264P,;ANNO=splicing:IFNAR1;ANNO=splicing:IFNAR1
21	34876833	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GART:NM_001136006:exon21:c.A2727G:p.G909G,GART:NM_001136005:exon21:c.A2727G:p.G909G,GART:NM_000819:exon21:c.A2727G:p.G909G,;ANNO=splicing:GART
21	34889665	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GART:NM_001136006:exon15:c.A1953G:p.L651L,GART:NM_001136005:exon15:c.A1953G:p.L651L,GART:NM_000819:exon15:c.A1953G:p.L651L,;ANNO=splicing:GART
21	34963513	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CRYZL1:NM_145858:exon12:c.G905A:p.C302Y,;ANNO=splicing:CRYZL1
21	34994303	.	A	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CRYZL1:NM_145858:exon4:c.T216A:p.D72E,;ANNO=splicing:CRYZL1
21	35515333	.	T	C	100	PASS	AC=109;STUDIES=2;MAC=109;MAF=0.061;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:MRPS6
21	37600174	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DOPEY2:NM_005128:exon13:c.C1664T:p.S555L,;ANNO=splicing:DOPEY2
21	37653782	.	C	T	100	PASS	AC=5;STUDIES=5;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:DOPEY2:NM_005128:exon32:c.C6033T:p.N2011N,;ANNO=splicing:DOPEY2
21	37785612	.	C	T	100	PASS	AC=33;STUDIES=11;MAC=33;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:CHAF1B:NM_005441:exon12:c.C1492T:p.R498W,;ANNO=splicing:CHAF1B
21	37948710	.	G	A	100	PASS	AC=35;STUDIES=2;MAC=35;MAF=0.018;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:CLDN14
21	38092123	.	T	G	100	PASS	AC=18;STUDIES=2;MAC=18;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SIM2:NM_009586:exon4:c.T350G:p.V117G,SIM2:NM_005069:exon4:c.T350G:p.V117G,;ANNO=splicing:SIM2
21	38103452	.	C	T	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SIM2:NM_009586:exon7:c.C850T:p.L284L,SIM2:NM_005069:exon7:c.C850T:p.L284L,;ANNO=splicing:SIM2
21	38115689	.	G	A	100	PASS	AC=120;STUDIES=15;MAC=120;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SIM2:NM_009586:exon9:c.G1000A:p.E334K,SIM2:NM_005069:exon9:c.G1000A:p.E334K,;ANNO=splicing:SIM2
21	38390173	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DSCR6(NM_018962:c.239-1G>A)
21	38459701	.	G	A	100	PASS	AC=14;STUDIES=9;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:TTC3:NM_001001894:exon2:c.G144A:p.V48V,TTC3:NM_003316:exon2:c.G144A:p.V48V,;ANNO=splicing:TTC3
21	38498381	.	T	G	100	PASS	AC=64;STUDIES=2;MAC=64;MAF=0.105;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:TTC3:NM_001001894:exon15:c.T1235G:p.V412G,TTC3:NM_003316:exon15:c.T1235G:p.V412G,;ANNO=splicing:TTC3
21	38520947	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TTC3:NM_001001894:exon23:c.G2118A:p.K706K,TTC3:NM_003316:exon23:c.G2118A:p.K706K,;ANNO=splicing:TTC3
21	38560797	.	T	G	100	PASS	AC=110;STUDIES=4;MAC=110;MAF=0.097;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:TTC3:NM_001001894:exon39:c.T4925G:p.V1642G,TTC3:NM_003316:exon39:c.T4925G:p.V1642G,;ANNO=splicing:TTC3
21	38563725	.	G	A	100	PASS	AC=7789;STUDIES=22;MAC=7789;MAF=0.324;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=synonymous:TTC3:NM_001001894:exon40:c.G5115A:p.K1705K,TTC3:NM_003316:exon40:c.G5115A:p.K1705K,;ANNO=splicing:TTC3
21	38600106	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DSCR3:NM_006052:exon7:c.G660T:p.G220G,;ANNO=splicing:DSCR3
21	39947586	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ERG:NM_001136154:exon3:c.G39A:p.K13K,ERG:NM_004449:exon3:c.G39A:p.K13K,;ANNO=splicing:ERG
21	39947670	.	G	A	100	PASS	AC=10;STUDIES=2;MAC=10;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:ERG
21	40552362	.	G	C	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PSMG1:NM_003720:exon3:c.C242G:p.A81G,PSMG1:NM_203433:exon3:c.C242G:p.A81G,;ANNO=splicing:PSMG1
21	40590198	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BRWD1:NM_033656:exon31:c.A3539G:p.D1180G,BRWD1:NM_018963:exon31:c.A3539G:p.D1180G,;ANNO=splicing:BRWD1
21	40590432	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:BRWD1:NM_033656:exon30:c.T3537C:p.L1179L,BRWD1:NM_018963:exon30:c.T3537C:p.L1179L,;ANNO=splicing:BRWD1
21	40619757	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:BRWD1:NM_033656:exon21:c.C2351T:p.S784L,BRWD1:NM_018963:exon21:c.C2351T:p.S784L,;ANNO=splicing:BRWD1
21	40642210	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:BRWD1:NM_033656:exon14:c.T1394C:p.M465T,BRWD1:NM_018963:exon14:c.T1394C:p.M465T,;ANNO=splicing:BRWD1
21	40650670	.	A	G	100	PASS	AC=638;STUDIES=15;MAC=638;MAF=0.038;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=synonymous:BRWD1:NM_033656:exon10:c.T1002C:p.V334V,BRWD1:NM_018963:exon10:c.T1002C:p.V334V,;ANNO=splicing:BRWD1
21	40717199	.	T	C	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:HMGN1:NM_004965:exon5:c.A128G:p.D43G,;ANNO=splicing:HMGN1
21	40883608	.	C	T	100	PASS	AC=15;STUDIES=6;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SH3BGR:NM_007341:exon6:c.C626T:p.T209M,SH3BGR:NM_001001713:exon6:c.C293T:p.T98M,;ANNO=splicing:SH3BGR
21	41165462	.	C	A	100	PASS	AC=8242;STUDIES=22;MAC=8242;MAF=0.340;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IGSF5:NM_001080444:exon8:c.C1050A:p.D350E,;ANNO=splicing:IGSF5
21	41173190	.	G	A	100	PASS	AC=80;STUDIES=15;MAC=80;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IGSF5:NM_001080444:exon9:c.G1130A:p.R377Q,;ANNO=splicing:IGSF5
21	41427767	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DSCAM:NM_001389:exon29:c.T4920C:p.S1640S,;ANNO=splicing:DSCAM
21	42717662	.	T	C	100	PASS	AC=20977;STUDIES=22;MAC=3117;MAF=0.129;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:FAM3B:NM_058186:exon5:c.T396C:p.G132G,FAM3B:NM_206964:exon4:c.T252C:p.G84G,;ANNO=splicing:FAM3B
21	42717663	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;SNP_ON_LEFT;ANNO=nonsynonymous:FAM3B:NM_058186:exon5:c.G397A:p.D133N,FAM3B:NM_206964:exon4:c.G253A:p.D85N,;ANNO=splicing:FAM3B
21	42729035	.	A	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:FAM3B:NM_058186:exon8:c.A619T:p.I207F,FAM3B:NM_206964:exon7:c.A475T:p.I159F,;ANNO=splicing:FAM3B
21	42749081	.	T	C	100	PASS	AC=761;STUDIES=15;MAC=761;MAF=0.039;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MX2:NM_002463:exon2:c.T248C:p.M83T,;ANNO=splicing:MX2
21	42769619	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MX2(NM_002463:c.1149+1G>A)
21	42803977	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:MX1
21	42807955	.	C	T	100	PASS	AC=66;STUDIES=13;MAC=66;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MX1:NM_001144925:exon8:c.C297T:p.S99S,MX1:NM_002462:exon6:c.C297T:p.S99S,MX1:NM_001178046:exon4:c.C297T:p.S99S,;ANNO=splicing:MX1
21	42821222	.	G	A	100	PASS	AC=8;STUDIES=2;MAC=8;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MX1:NM_001144925:exon16:c.G1432A:p.D478N,MX1:NM_002462:exon14:c.G1432A:p.D478N,MX1:NM_001178046:exon12:c.G1432A:p.D478N,;ANNO=splicing:MX1
21	42839661	.	C	T	100	PASS	AC=63;STUDIES=14;MAC=63;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TMPRSS2:NM_001135099:exon13:c.G1578A:p.R526R,TMPRSS2:NM_005656:exon13:c.G1467A:p.R489R,;ANNO=splicing:TMPRSS2
21	42843734	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TMPRSS2:NM_001135099:exon10:c.C1185T:p.N395N,TMPRSS2:NM_005656:exon10:c.C1074T:p.N358N,;ANNO=splicing:TMPRSS2
21	42848546	.	C	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMPRSS2:NM_001135099:exon8:c.G796T:p.D266Y,TMPRSS2:NM_005656:exon8:c.G685T:p.D229Y,;ANNO=splicing:TMPRSS2
21	43166771	.	A	G	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RIPK4(NM_020639:c.832+2T>C)
21	43231191	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PRDM15:NM_022115:exon27:c.G3492A:p.G1164G,PRDM15:NM_001040424:exon20:c.G2505A:p.G835G,;ANNO=splicing:PRDM15
21	43281673	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;SNP_ON_LEFT;ANNO=nonsynonymous:PRDM15:NM_022115:exon7:c.C890T:p.P297L,;ANNO=splicing:PRDM15
21	43496358	.	T	C	100	PASS	AC=112;STUDIES=6;MAC=112;MAF=0.019;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UMODL1(NM_001199527:c.103+2T>C,NM_001199528:c.103+2T>C,NM_001004416:c.319+2T>C,NM_173568:c.319+2T>C)
21	43504194	.	C	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UMODL1:NM_001199527:exon3:c.C104A:p.P35H,UMODL1:NM_001199528:exon3:c.C104A:p.P35H,UMODL1:NM_173568:exon3:c.C320A:p.P107H,UMODL1:NM_001004416:exon3:c.C320A:p.P107H,;ANNO=splicing:UMODL1
21	43522387	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UMODL1:NM_001199527:exon8:c.A1082G:p.E361G,UMODL1:NM_001199528:exon8:c.A1082G:p.E361G,UMODL1:NM_173568:exon8:c.A1298G:p.E433G,UMODL1:NM_001004416:exon8:c.A1298G:p.E433G,;ANNO=splicing:UMODL1
21	43529810	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UMODL1(NM_001199527:c.1441+1G>A,NM_001199528:c.1441+1G>A,NM_001004416:c.1657+1G>A,NM_173568:c.1657+1G>A)
21	43539221	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UMODL1:NM_001199527:exon14:c.G2644C:p.V882L,UMODL1:NM_001199528:exon15:c.G2260C:p.V754L,UMODL1:NM_173568:exon14:c.G2860C:p.V954L,UMODL1:NM_001004416:exon15:c.G2476C:p.V826L,;ANNO=splicing:UMODL1
21	43541198	.	T	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UMODL1:NM_001199527:exon15:c.T2859G:p.D953E,UMODL1:NM_001199528:exon16:c.T2475G:p.D825E,UMODL1:NM_173568:exon15:c.T3075G:p.D1025E,UMODL1:NM_001004416:exon16:c.T2691G:p.D897E,;ANNO=splicing:UMODL1
21	43543261	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UMODL1(NM_001199527:c.3315+1G>A,NM_001199528:c.2931+1G>A,NM_001004416:c.3147+1G>A,NM_173568:c.3531+1G>A)
21	43547117	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:UMODL1:NM_001199527:exon18:c.G3463A:p.V1155I,UMODL1:NM_001199528:exon19:c.G3079A:p.V1027I,UMODL1:NM_173568:exon18:c.G3679A:p.V1227I,UMODL1:NM_001004416:exon19:c.G3295A:p.V1099I,;ANNO=splicing:UMODL1
21	43704671	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ABCG1:NM_207629:exon7:c.G727A:p.G243S,ABCG1:NM_004915:exon7:c.G736A:p.G246S,ABCG1:NM_207628:exon9:c.G670A:p.G224S,ABCG1:NM_207174:exon7:c.G769A:p.G257S,ABCG1:NM_016818:exon7:c.G736A:p.G246S,ABCG1:NM_207627:exon8:c.G742A:p.G248S,;ANNO=splicing:ABCG1
21	43708422	.	G	A	100	PASS	AC=7;STUDIES=6;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:ABCG1:NM_207629:exon10:c.G1215A:p.S405S,ABCG1:NM_004915:exon10:c.G1260A:p.S420S,ABCG1:NM_207628:exon12:c.G1158A:p.S386S,ABCG1:NM_207174:exon10:c.G1257A:p.S419S,ABCG1:NM_016818:exon10:c.G1224A:p.S408S,ABCG1:NM_207627:exon11:c.G1230A:p.S410S,;ANNO=splicing:ABCG1
21	43767595	.	C	T	100	PASS	AC=9;STUDIES=5;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TFF2:NM_005423:exon3:c.G376A:p.D126N,;ANNO=splicing:TFF2
21	43829717	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:UBASH3A:NM_001001895:exon3:c.G354A:p.T118T,UBASH3A:NM_018961:exon3:c.G354A:p.T118T,;ANNO=splicing:UBASH3A
21	43833520	.	C	A	100	PASS	AC=14;STUDIES=5;MAC=14;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:UBASH3A:NM_018961:exon5:c.C555A:p.G185G,;ANNO=splicing:UBASH3A
21	43897401	.	T	C	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=nonsynonymous:RSPH1:NM_080860:exon7:c.A727G:p.S243G,;ANNO=splicing:RSPH1
21	43906573	.	T	G	100	PASS	AC=14;STUDIES=7;MAC=14;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:RSPH1(NM_080860:c.274-2A>C)
21	44000456	.	T	C	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC37A1:NM_018964:exon21:c.T1588C:p.F530L,;ANNO=splicing:SLC37A1
21	44119120	.	C	T	100	PASS	AC=140;STUDIES=8;MAC=140;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=stopgain:PDE9A:NM_001001570:exon5:c.C337T:p.R113X,PDE9A:NM_001001569:exon2:c.C112T:p.R38X,PDE9A:NM_001001578:exon3:c.C190T:p.R64X,;ANNO=splicing:PDE9A
21	44185492	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PDE9A:NM_001001574:exon13:c.G986T:p.G329V,PDE9A:NM_001001583:exon14:c.G1166T:p.G389V,PDE9A:NM_001001568:exon12:c.G863T:p.G288V,PDE9A:NM_001001577:exon11:c.G842T:p.G281V,PDE9A:NM_002606:exon15:c.G1244T:p.G415V,PDE9A:NM_001001570:exon14:c.G1085T:p.G362V,PDE9A:NM_001001573:exon12:c.G623T:p.G208V,PDE9A:NM_001001569:exon11:c.G860T:p.G287V,PDE9A:NM_001001584:exon13:c.G623T:p.G208V,PDE9A:NM_001001580:exon9:c.G593T:p.G198V,PDE9A:NM_001001585:exon13:c.G623T:p.G208V,PDE9A:NM_001001576:exon10:c.G593T:p.G198V,PDE9A:NM_001001581:exon13:c.G1043T:p.G348V,PDE9A:NM_001001579:exon12:c.G623T:p.G208V,PDE9A:NM_001001572:exon11:c.G623T:p.G208V,PDE9A:NM_001001567:exon14:c.G1064T:p.G355V,PDE9A:NM_001001578:exon12:c.G938T:p.G313V,PDE9A:NM_001001582:exon14:c.G1121T:p.G374V,PDE9A:NM_001001575:exon10:c.G764T:p.G255V,PDE9A:NM_001001571:exon13:c.G941T:p.G314V,;ANNO=splicing:PDE9A
21	44317156	.	A	C	100	PASS	AC=136;STUDIES=18;MAC=136;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:NDUFV3:NM_001001503:exon2:c.A168C:p.K56N,NDUFV3:NM_021075:exon2:c.A168C:p.K56N,;ANNO=splicing:NDUFV3
21	44324388	.	T	A	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NDUFV3(NM_021075:c.1264+2T>A)
21	44473972	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:CBS
21	45033827	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:HSF2BP:NM_007031:exon7:c.T576C:p.N192N,;ANNO=splicing:HSF2BP
21	45111383	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RRP1B:NM_015056:exon15:c.G2083A:p.E695K,;ANNO=splicing:RRP1B
21	45166005	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PDXK:NM_003681:exon5:c.T377C:p.M126T,;ANNO=splicing:PDXK
21	45194641	.	C	G	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CSTB(NM_000100:c.66-1G>C)
21	45391270	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:AGPAT3:NM_020132:exon7:c.C666T:p.V222V,AGPAT3:NM_001037553:exon6:c.C666T:p.V222V,;ANNO=splicing:AGPAT3
21	45707474	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AIRE:NM_000383:exon4:c.G538A:p.G180R,;ANNO=splicing:AIRE
21	45709685	.	C	G	100	PASS	AC=18;STUDIES=2;MAC=18;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:AIRE:NM_000383:exon6:c.C798A:p.P266P,;ANNO=synonymous:AIRE:NM_000383:exon6:c.C798G:p.P266P,;ANNO=splicing:AIRE;ANNO=splicing:AIRE
21	45709686	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AIRE(NM_000383:c.798+1G>A)
21	45713792	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:AIRE:NM_000658:exon4:c.G808A:p.G270R,AIRE:NM_000383:exon11:c.G1399A:p.G467R,;ANNO=splicing:AIRE
21	45751726	.	G	A	100	PASS	AC=11;STUDIES=6;MAC=11;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:C21orf2:NM_004928:exon5:c.C545T:p.T182I,;ANNO=splicing:C21orf2
21	45784164	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRPM2:NM_003307:exon3:c.A422G:p.K141R,;ANNO=splicing:TRPM2
21	45797656	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TRPM2:NM_003307:exon7:c.C1014T:p.H338H,;ANNO=splicing:TRPM2
21	45817758	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TRPM2:NM_003307:exon13:c.C2061T:p.I687I,;ANNO=splicing:TRPM2
21	45826647	.	C	T	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TRPM2:NM_003307:exon19:c.C2961T:p.D987D,;ANNO=splicing:TRPM2
21	45846544	.	C	T	100	PASS	AC=100;STUDIES=17;MAC=100;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRPM2:NM_003307:exon26:c.C3797T:p.T1266M,;ANNO=splicing:TRPM2
21	45855099	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRPM2:NM_003307:exon28:c.C4060T:p.R1354W,;ANNO=splicing:TRPM2
21	45929268	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TSPEAR:NM_144991:exon10:c.C1568T:p.T523M,;ANNO=splicing:TSPEAR
21	45941766	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TSPEAR:NM_144991:exon9:c.G1566A:p.P522P,;ANNO=splicing:TSPEAR
21	45945534	.	A	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TSPEAR(NM_144991:c.1336+2T>A)
21	46285310	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PTTG1IP:NM_004339:exon2:c.C168T:p.S56S,;ANNO=splicing:PTTG1IP
21	46320235	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ITGB2:NM_001127491:exon7:c.C897T:p.F299F,ITGB2:NM_000211:exon7:c.C897T:p.F299F,;ANNO=splicing:ITGB2
21	46321407	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ITGB2:NM_001127491:exon6:c.G741A:p.P247P,ITGB2:NM_000211:exon6:c.G741A:p.P247P,;ANNO=splicing:ITGB2
21	46685550	.	C	T	100	PASS	AC=83;STUDIES=6;MAC=83;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:POFUT2:NM_133635:exon9:c.G1137A:p.R379R,;ANNO=splicing:POFUT2
21	46702264	.	C	T	100	PASS	AC=12;STUDIES=7;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:POFUT2:NM_133635:exon4:c.G638A:p.R213Q,POFUT2:NM_015227:exon4:c.G638A:p.R213Q,;ANNO=splicing:POFUT2
21	46912627	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:COL18A1:NM_030582:exon23:c.C2754T:p.P918P,COL18A1:NM_130445:exon24:c.C2214T:p.P738P,;ANNO=splicing:COL18A1
21	46914829	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL18A1:NM_030582:exon27:c.G2973A:p.P991P,COL18A1:NM_130445:exon28:c.G2433A:p.P811P,;ANNO=splicing:COL18A1
21	46916964	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:COL18A1:NM_030582:exon30:c.G3118T:p.V1040L,COL18A1:NM_130445:exon31:c.G2578T:p.V860L,;ANNO=splicing:COL18A1
21	46924434	.	A	C	100	PASS	AC=16;STUDIES=2;MAC=16;MAF=0.400;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=1;ANNO=splicing:COL18A1(NM_130445:c.2824-2A>C,NM_030582:c.3364-2A>C)
21	47410740	.	C	T	100	PASS	AC=62;STUDIES=9;MAC=62;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL6A1:NM_001848:exon14:c.C1056T:p.D352D,;ANNO=splicing:COL6A1
21	47418347	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:COL6A1:NM_001848:exon24:c.C1611T:p.N537N,;ANNO=splicing:COL6A1
21	47419606	.	C	T	100	PASS	AC=27;STUDIES=5;MAC=27;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_FORWARD;SNP_ON_LEFT;ANNO=synonymous:COL6A1:NM_001848:exon27:c.C1776T:p.D592D,;ANNO=splicing:COL6A1
21	47544833	.	C	T	100	PASS	AC=37;STUDIES=14;MAC=37;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:COL6A2:NM_001849:exon23:c.C1769T:p.T590M,COL6A2:NM_058174:exon23:c.C1769T:p.T590M,COL6A2:NM_058175:exon23:c.C1769T:p.T590M,;ANNO=splicing:COL6A2
21	47544834	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;TRIALLELIC;ANNO=synonymous:COL6A2:NM_001849:exon23:c.G1770A:p.T590T,COL6A2:NM_058174:exon23:c.G1770A:p.T590T,COL6A2:NM_058175:exon23:c.G1770A:p.T590T,;ANNO=synonymous:COL6A2:NM_001849:exon23:c.G1770C:p.T590T,COL6A2:NM_058174:exon23:c.G1770C:p.T590T,COL6A2:NM_058175:exon23:c.G1770C:p.T590T,;ANNO=splicing:COL6A2;ANNO=splicing:COL6A2
21	47556899	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:FTCD
21	47556900	.	G	A	100	PASS	AC=16;STUDIES=9;MAC=16;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:FTCD
21	47558559	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FTCD:NM_006657:exon12:c.C1306T:p.R436C,FTCD:NM_206965:exon12:c.C1306T:p.R436C,;ANNO=splicing:FTCD
21	47626586	.	C	T	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LSS:NM_001145437:exon15:c.G1324A:p.G442R,LSS:NM_002340:exon16:c.G1564A:p.G522R,LSS:NM_001145436:exon16:c.G1531A:p.G511R,LSS:NM_001001438:exon16:c.G1564A:p.G522R,;ANNO=splicing:LSS
21	47635212	.	G	A	100	PASS	AC=23;STUDIES=5;MAC=23;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:LSS:NM_001145437:exon8:c.C653T:p.A218V,LSS:NM_002340:exon9:c.C893T:p.A298V,LSS:NM_001145436:exon9:c.C860T:p.A287V,LSS:NM_001001438:exon9:c.C893T:p.A298V,;ANNO=splicing:LSS
21	47642578	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:LSS:NM_001145437:exon3:c.C154T:p.R52W,LSS:NM_002340:exon4:c.C394T:p.R132W,LSS:NM_001145436:exon4:c.C394T:p.R132W,LSS:NM_001001438:exon4:c.C394T:p.R132W,;ANNO=splicing:LSS
21	47671444	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MCM3AP:NM_003906:exon20:c.A4289C:p.K1430T,;ANNO=splicing:MCM3AP
21	47697631	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MCM3AP:NM_003906:exon5:c.C1668T:p.S556S,;ANNO=splicing:MCM3AP
21	47722489	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C21orf58:NM_058180:exon7:c.C723T:p.D241D,;ANNO=splicing:C21orf58
21	47767371	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PCNT:NM_006031:exon6:c.C977T:p.A326V,;ANNO=splicing:PCNT
21	47777106	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PCNT:NM_006031:exon13:c.G2154A:p.K718K,;ANNO=splicing:PCNT
21	47801610	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PCNT:NM_006031:exon16:c.G3167A:p.G1056D,;ANNO=splicing:PCNT
21	47822397	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PCNT:NM_006031:exon27:c.G5115A:p.K1705K,;ANNO=splicing:PCNT
21	47848503	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PCNT:NM_006031:exon35:c.G7689T:p.Q2563H,;ANNO=splicing:PCNT
21	47855818	.	G	A	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PCNT:NM_006031:exon39:c.G8753A:p.R2918Q,;ANNO=splicing:PCNT
21	47965873	.	C	T	100	PASS	AC=144;STUDIES=15;MAC=144;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DIP2A:NM_001146114:exon18:c.C2201T:p.P734L,DIP2A:NM_001146115:exon19:c.C2264T:p.P755L,DIP2A:NM_015151:exon20:c.C2393T:p.P798L,DIP2A:NM_206889:exon20:c.C2393T:p.P798L,DIP2A:NM_206891:exon20:c.C2393T:p.P798L,DIP2A:NM_001146116:exon20:c.C2381T:p.P794L,DIP2A:NM_206890:exon20:c.C2393T:p.P798L,;ANNO=splicing:DIP2A
21	48063447	.	G	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PRMT2:NM_001535:exon3:c.C40A:p.Q14K,PRMT2:NM_206962:exon4:c.C40A:p.Q14K,;ANNO=splicing:PRMT2
21	48081847	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PRMT2:NM_001535:exon9:c.G1096A:p.D366N,PRMT2:NM_206962:exon10:c.G1096A:p.D366N,;ANNO=splicing:PRMT2
22	17446157	.	G	T	100	PASS	AC=1284;STUDIES=21;MAC=1284;MAF=0.055;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GAB4:NM_001037814:exon7:c.C1290A:p.A430A,;ANNO=splicing:GAB4
22	17446991	.	C	T	100	PASS	AC=18716;STUDIES=21;MAC=4754;MAF=0.203;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GAB4:NM_001037814:exon6:c.G1287A:p.K429K,;ANNO=splicing:GAB4
22	17449273	.	G	A	100	PASS	AC=12;STUDIES=5;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:GAB4:NM_001037814:exon5:c.C938T:p.A313V,;ANNO=splicing:GAB4
22	17578835	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:IL17RA(NM_014339:c.310+2T>C)
22	17586491	.	G	A	100	PASS	AC=29;STUDIES=5;MAC=29;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=synonymous:IL17RA:NM_014339:exon10:c.G942A:p.P314P,;ANNO=synonymous:IL17RA:NM_014339:exon10:c.G942C:p.P314P,;ANNO=splicing:IL17RA;ANNO=splicing:IL17RA
22	17588617	.	G	C	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:IL17RA:NM_014339:exon12:c.G1046C:p.G349A,;ANNO=splicing:IL17RA
22	17588657	.	C	T	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:IL17RA:NM_014339:exon12:c.C1086T:p.T362T,;ANNO=splicing:IL17RA
22	17588658	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:IL17RA:NM_014339:exon12:c.G1087A:p.D363N,;ANNO=splicing:IL17RA
22	17625915	.	G	A	100	PASS	AC=1047;STUDIES=21;MAC=1047;MAF=0.044;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CECR5:NM_033070:exon4:c.C536T:p.T179M,CECR5:NM_017829:exon4:c.C446T:p.T149M,;ANNO=splicing:CECR5
22	17669339	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CECR1(NM_177405:c.249-2A>G,NM_017424:c.972-2A>G)
22	17684454	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CECR1:NM_017424:exon3:c.C752T:p.P251L,;ANNO=splicing:CECR1
22	18082793	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:ATP6V1E1:NM_001696:exon6:c.G435A:p.K145K,ATP6V1E1:NM_001039366:exon5:c.G369A:p.K123K,ATP6V1E1:NM_001039367:exon5:c.G345A:p.K115K,;ANNO=splicing:ATP6V1E1
22	18644702	.	T	C	100	PASS	AC=554;STUDIES=20;MAC=554;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:USP18:NM_017414:exon4:c.T400C:p.L134L,;ANNO=splicing:USP18
22	18650803	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:USP18:NM_017414:exon6:c.G627A:p.L209L,;ANNO=splicing:USP18
22	18898543	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:DGCR6(NM_005675:c.513+2T>C)
22	18910446	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PRODH:NM_001195226:exon6:c.C409T:p.L137L,PRODH:NM_016335:exon7:c.C733T:p.L245L,;ANNO=splicing:PRODH
22	19026633	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DGCR2:NM_001173534:exon9:c.C1266T:p.D422D,DGCR2:NM_001184781:exon10:c.C1389T:p.D463D,DGCR2:NM_005137:exon10:c.C1398T:p.D466D,DGCR2:NM_001173533:exon9:c.C1275T:p.D425D,;ANNO=splicing:DGCR2
22	19130146	.	T	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DGCR14:NM_022719:exon3:c.A305G:p.Y102C,;ANNO=splicing:DGCR14
22	19445594	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:UFD1L:NM_005659:exon7:c.C564T:p.N188N,UFD1L:NM_001035247:exon7:c.C564T:p.N188N,;ANNO=splicing:UFD1L
22	19471528	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CDC45:NM_001178010:exon5:c.G486C:p.E162D,CDC45:NM_003504:exon5:c.G486C:p.E162D,CDC45:NM_001178011:exon4:c.G348C:p.E116D,;ANNO=splicing:CDC45
22	19483552	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CDC45:NM_001178010:exon8:c.G687A:p.S229S,CDC45:NM_003504:exon7:c.G591A:p.S197S,CDC45:NM_001178011:exon6:c.G453A:p.S151S,;ANNO=splicing:CDC45
22	19502488	.	G	A	100	PASS	AC=83;STUDIES=16;MAC=83;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CDC45:NM_001178010:exon16:c.G1453A:p.G485S,CDC45:NM_003504:exon15:c.G1357A:p.G453S,CDC45:NM_001178011:exon14:c.G1219A:p.G407S,;ANNO=splicing:CDC45
22	19707639	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SEPT5:NM_001009939:exon4:c.G267A:p.E89E,SEPT5:NM_002688:exon5:c.G240A:p.E80E,;ANNO=splicing:SEPT5
22	19747082	.	G	C	100	PASS	AC=1276;STUDIES=3;MAC=740;MAF=0.367;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=splicing:TBX1
22	19751849	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TBX1:NM_080647:exon5:c.C684T:p.H228H,TBX1:NM_005992:exon5:c.C684T:p.H228H,TBX1:NM_080646:exon5:c.C684T:p.H228H,;ANNO=splicing:TBX1
22	19808120	.	C	A	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:GNB1L(NM_053004:c.254+1G>T)
22	19898900	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TXNRD2:NM_006440:exon8:c.C662T:p.T221M,;ANNO=splicing:TXNRD2
22	19902736	.	C	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:TXNRD2(NM_006440:c.591+1G>C)
22	19959880	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ARVCF(NM_001670:c.2695+1G>A)
22	20101210	.	C	T	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRMT2A:NM_022727:exon8:c.G1355A:p.R452Q,TRMT2A:NM_182984:exon9:c.G1355A:p.R452Q,;ANNO=splicing:TRMT2A
22	20102789	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TRMT2A:NM_022727:exon4:c.G890A:p.R297Q,TRMT2A:NM_182984:exon5:c.G890A:p.R297Q,;ANNO=splicing:TRMT2A
22	20127002	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZDHHC8:NM_013373:exon3:c.G228A:p.A76A,ZDHHC8:NM_001185024:exon3:c.G228A:p.A76A,;ANNO=splicing:ZDHHC8
22	20755047	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZNF74:NM_003426:exon3:c.A246G:p.L82L,;ANNO=splicing:ZNF74
22	20786033	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:SCARF2:NM_182895:exon3:c.C333T:p.T111T,SCARF2:NM_153334:exon3:c.C333T:p.T111T,;ANNO=splicing:SCARF2
22	20940856	.	C	T	100	PASS	AC=75;STUDIES=15;MAC=75;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MED15:NM_001003891:exon18:c.C2232T:p.D744D,MED15:NM_015889:exon17:c.C2112T:p.D704D,;ANNO=splicing:MED15
22	21065630	.	G	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:PI4KA:NM_002650:exon19:c.C2178T:p.I726I,PI4KA:NM_058004:exon51:c.C5748T:p.I1916I,;ANNO=splicing:PI4KA
22	21075586	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:PI4KA:NM_002650:exon11:c.C1372T:p.P458S,PI4KA:NM_058004:exon43:c.C4942T:p.P1648S,;ANNO=nonsynonymous:PI4KA:NM_002650:exon11:c.C1372G:p.P458A,PI4KA:NM_058004:exon43:c.C4942G:p.P1648A,;ANNO=splicing:PI4KA;ANNO=splicing:PI4KA
22	21075586	.	G	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:PI4KA:NM_002650:exon11:c.C1372T:p.P458S,PI4KA:NM_058004:exon43:c.C4942T:p.P1648S,;ANNO=nonsynonymous:PI4KA:NM_002650:exon11:c.C1372G:p.P458A,PI4KA:NM_058004:exon43:c.C4942G:p.P1648A,;ANNO=splicing:PI4KA;ANNO=splicing:PI4KA
22	21332296	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:AIFM3(NM_144704:c.1477+2T>C,NM_001018060:c.1477+2T>C,NM_001146288:c.1495+2T>C)
22	21344815	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:LZTR1(NM_006767:c.791+1G>A);ANNO=splicing:LZTR1(NM_006767:c.791+1G>T)
22	21354936	.	C	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:THAP7:NM_030573:exon3:c.G377C:p.R126P,THAP7:NM_001008695:exon4:c.G377C:p.R126P,;ANNO=splicing:THAP7
22	21369548	.	A	T	100	PASS	AC=107;STUDIES=16;MAC=107;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=stopgain:P2RX6:NM_005446:exon1:c.A85T:p.K29X,P2RX6:NM_001159554:exon1:c.A85T:p.K29X,;ANNO=splicing:P2RX6
22	21370380	.	A	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:P2RX6:NM_005446:exon2:c.A314T:p.Q105L,P2RX6:NM_001159554:exon2:c.A236T:p.Q79L,;ANNO=splicing:P2RX6
22	21377325	.	G	A	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:P2RX6(NM_001159554:c.479+1G>A,NM_005446:c.557+1G>A)
22	21797145	.	C	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:HIC2:NM_015094:exon2:c.C25T:p.R9W,;ANNO=splicing:HIC2
22	21989555	.	G	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CCDC116:NM_152612:exon4:c.G1203C:p.K401N,;ANNO=splicing:CCDC116
22	22049359	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PPIL2:NM_148176:exon19:c.C1466T:p.T489I,PPIL2:NM_014337:exon19:c.C1466T:p.T489M,PPIL2:NM_148175:exon19:c.C1466T:p.T489M,;ANNO=splicing:PPIL2
22	22162135	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MAPK1:NM_138957:exon2:c.C120T:p.C40C,MAPK1:NM_002745:exon2:c.C120T:p.C40C,;ANNO=splicing:MAPK1
22	22318533	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:TOP3B:NM_003935:exon10:c.G1098A:p.T366T,;ANNO=splicing:TOP3B
22	22326322	.	A	C	100	PASS	AC=70;STUDIES=2;MAC=70;MAF=0.095;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:TOP3B:NM_003935:exon5:c.T311G:p.V104G,;ANNO=splicing:TOP3B
22	23235998	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:IGLL5:NM_001178126:exon2:c.G325A:p.G109S,;ANNO=nonsynonymous:IGLL5:NM_001178126:exon2:c.G325T:p.G109C,;ANNO=splicing:IGLL5;ANNO=splicing:IGLL5
22	23482658	.	C	T	100	PASS	AC=43;STUDIES=2;MAC=43;MAF=0.034;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:RTDR1
22	23492340	.	G	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RAB36:NM_004914:exon3:c.G358A:p.G120R,;ANNO=splicing:RAB36
22	23603727	.	G	A	100	PASS	AC=21;STUDIES=4;MAC=21;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:BCR:NM_021574:exon4:c.G1752A:p.L584L,BCR:NM_004327:exon4:c.G1752A:p.L584L,;ANNO=splicing:BCR
22	23950955	.	C	A	100	PASS	AC=16;STUDIES=5;MAC=16;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C22orf43:NM_016449:exon12:c.G686T:p.G229V,;ANNO=splicing:C22orf43
22	23956322	.	G	A	100	PASS	AC=143;STUDIES=17;MAC=143;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C22orf43:NM_016449:exon9:c.C621T:p.H207H,;ANNO=splicing:C22orf43
22	23964277	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C22orf43(NM_016449:c.384+1G>C)
22	23968167	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C22orf43(NM_016449:c.276+1G>A)
22	24035177	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:RGL4:NM_153615:exon3:c.C695T:p.A232V,;ANNO=splicing:RGL4
22	24040025	.	G	C	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:RGL4:NM_153615:exon9:c.G1237C:p.G413R,;ANNO=splicing:RGL4
22	24095387	.	T	C	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:VPREB3(NM_013378:c.49-2A>G)
22	24106448	.	G	A	100	PASS	AC=622;STUDIES=8;MAC=622;MAF=0.078;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:C22orf15:NM_182520:exon3:c.G114A:p.A38A,;ANNO=splicing:C22orf15
22	24175759	.	C	T	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SMARCB1:NM_003073:exon8:c.C987T:p.S329S,SMARCB1:NM_001007468:exon8:c.C960T:p.S320S,;ANNO=splicing:SMARCB1
22	24180540	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DERL3:NM_001002862:exon4:c.C326T:p.T109I,DERL3:NM_198440:exon4:c.C326T:p.T109I,DERL3:NM_001135751:exon4:c.C326T:p.T109I,;ANNO=splicing:DERL3
22	24225055	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SLC2A11:NM_001024938:exon8:c.G983A:p.S328N,SLC2A11:NM_030807:exon9:c.G1004A:p.S335N,SLC2A11:NM_001024939:exon8:c.G992A:p.S331N,;ANNO=splicing:SLC2A11
22	24226213	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC2A11(NM_030807:c.1183+2T>C,NM_001024938:c.1162+2T>C,NM_001024939:c.1171+2T>C)
22	24300645	.	C	T	100	PASS	AC=42;STUDIES=3;MAC=42;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:GSTT2B:NM_001080843:exon4:c.G352A:p.V118M,GSTT2:NM_000854:exon4:c.G352A:p.V118M,;ANNO=splicing:GSTT2,GSTT2B
22	24302480	.	C	T	100	PASS	AC=46;STUDIES=5;MAC=46;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;HWE_FAILURES=1;ANNO=splicing:GSTT2(NM_000854:c.200+1G>A),GSTT2B(NM_001080843:c.200+1G>A)
22	24323227	.	G	A	100	PASS	AC=1124;STUDIES=12;MAC=1124;MAF=0.114;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;HWE_FAILURES=6;ANNO=splicing:GSTT2(NM_000854:c.200+1G>A)
22	24325062	.	G	A	100	PASS	AC=1550;STUDIES=16;MAC=1550;MAF=0.113;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;HWE_FAILURES=5;ANNO=nonsynonymous:GSTT2:NM_000854:exon4:c.G352A:p.V118M,;ANNO=splicing:GSTT2
22	24381786	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GSTT1:NM_000853:exon2:c.T114C:p.G38G,;ANNO=splicing:GSTT1
22	24622734	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:GGT5:NM_004121:exon7:c.G903C:p.G301G,GGT5:NM_001099781:exon7:c.G903C:p.G301G,GGT5:NM_001099782:exon6:c.G807C:p.G269G,;ANNO=synonymous:GGT5:NM_004121:exon7:c.G903A:p.G301G,GGT5:NM_001099781:exon7:c.G903A:p.G301G,GGT5:NM_001099782:exon6:c.G807A:p.G269G,;ANNO=splicing:GGT5;ANNO=splicing:GGT5
22	24916355	.	C	A	100	PASS	AC=16;STUDIES=7;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:UPB1:NM_016327:exon7:c.C792A:p.S264R,;ANNO=synonymous:UPB1:NM_016327:exon7:c.C792T:p.S264S,;ANNO=splicing:UPB1;ANNO=splicing:UPB1
22	24919586	.	G	A	100	PASS	AC=39;STUDIES=13;MAC=39;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UPB1(NM_016327:c.916-1G>A)
22	24939810	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:C22orf13:NM_031444:exon5:c.C628T:p.P210S,;ANNO=splicing:C22orf13
22	25010874	.	G	A	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:GGT1(NM_013430:c.295+1G>A,NM_001032364:c.295+1G>A,NM_005265:c.295+1G>A,NM_001032365:c.295+1G>A)
22	25016296	.	G	A	100	PASS	AC=70;STUDIES=2;MAC=70;MAF=0.049;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:GGT1:NM_013430:exon8:c.G384A:p.G128G,GGT1:NM_001032365:exon8:c.G384A:p.G128G,GGT1:NM_005265:exon8:c.G384A:p.G128G,GGT1:NM_001032364:exon8:c.G384A:p.G128G,;ANNO=splicing:GGT1
22	25017036	.	C	T	100	PASS	AC=155;STUDIES=13;MAC=155;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=synonymous:GGT1:NM_013430:exon9:c.C732T:p.A244A,GGT1:NM_001032365:exon9:c.C732T:p.A244A,GGT1:NM_005265:exon9:c.C732T:p.A244A,GGT1:NM_001032364:exon9:c.C732T:p.A244A,;ANNO=splicing:GGT1
22	25124143	.	C	T	100	PASS	AC=132;STUDIES=16;MAC=132;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PIWIL3(NM_001008496:c.1932+1G>A)
22	25130050	.	C	A	100	PASS	AC=8;STUDIES=3;MAC=8;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PIWIL3(NM_001008496:c.1707+1G>T)
22	25246247	.	G	A	100	PASS	AC=37;STUDIES=9;MAC=37;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SGSM1:NM_001098497:exon5:c.G303A:p.A101A,SGSM1:NM_001039948:exon5:c.G303A:p.A101A,SGSM1:NM_001098498:exon5:c.G303A:p.A101A,SGSM1:NM_133454:exon5:c.G303A:p.A101A,;ANNO=splicing:SGSM1
22	25251516	.	A	G	100	PASS	AC=6;STUDIES=6;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SGSM1:NM_001098497:exon8:c.A670G:p.I224V,SGSM1:NM_001039948:exon8:c.A670G:p.I224V,SGSM1:NM_001098498:exon8:c.A670G:p.I224V,SGSM1:NM_133454:exon8:c.A670G:p.I224V,;ANNO=splicing:SGSM1
22	25573488	.	G	A	100	PASS	AC=38;STUDIES=5;MAC=38;MAF=0.008;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:KIAA1671:NM_001145206:exon7:c.G5073A:p.T1691T,;ANNO=splicing:KIAA1671
22	25577667	.	G	A	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:KIAA1671:NM_001145206:exon8:c.G5076A:p.E1692E,;ANNO=splicing:KIAA1671
22	25598760	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=splicing:CRYBB3(NM_004076:c.194+1G>A);ANNO=splicing:CRYBB3(NM_004076:c.194+1G>T)
22	25599863	.	G	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CRYBB3(NM_004076:c.327+1G>T)
22	25750778	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;SNP_ON_RIGHT;ANNO=nonsynonymous:LRP5L:NM_001135772:exon5:c.C440T:p.A147V,LRP5L:NM_182492:exon3:c.C440T:p.A147V,;ANNO=splicing:LRP5L
22	25753221	.	C	T	100	PASS	AC=9;STUDIES=2;MAC=9;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:LRP5L(NM_001135772:c.438+1G>A,NM_182492:c.438+1G>A)
22	25755793	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LRP5L(NM_001135772:c.266+1G>A,NM_182492:c.266+1G>A)
22	26100076	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ADRBK2:NM_005160:exon15:c.A1228G:p.N410D,;ANNO=splicing:ADRBK2
22	26166839	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MYO18B:NM_032608:exon6:c.C1580T:p.A527V,;ANNO=splicing:MYO18B
22	26694950	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SEZ6L:NM_001184776:exon5:c.C1163G:p.A388G,SEZ6L:NM_001184775:exon5:c.C1163G:p.A388G,SEZ6L:NM_001184774:exon5:c.C1163G:p.A388G,SEZ6L:NM_021115:exon5:c.C1163G:p.A388G,SEZ6L:NM_001184773:exon5:c.C1163G:p.A388G,SEZ6L:NM_001184777:exon5:c.C1163G:p.A388G,;ANNO=splicing:SEZ6L
22	26707734	.	C	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SEZ6L:NM_001184776:exon8:c.C1682G:p.A561G,SEZ6L:NM_001184775:exon8:c.C1682G:p.A561G,SEZ6L:NM_001184774:exon8:c.C1682G:p.A561G,SEZ6L:NM_021115:exon8:c.C1682G:p.A561G,SEZ6L:NM_001184773:exon8:c.C1682G:p.A561G,SEZ6L:NM_001184777:exon8:c.C1682G:p.A561G,;ANNO=splicing:SEZ6L
22	26868797	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HPS4(NM_152841:c.369+1G>A,NM_022081:c.384+1G>A)
22	27003985	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CRYBB1:NM_001887:exon4:c.C300T:p.P100P,;ANNO=splicing:CRYBB1
22	27012105	.	C	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CRYBB1:NM_001887:exon2:c.G179C:p.R60T,;ANNO=splicing:CRYBB1
22	27019197	.	G	C	100	PASS	AC=77;STUDIES=15;MAC=77;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CRYBA4(NM_001886:c.39-1G>C)
22	29630187	.	G	C	100	PASS	AC=19;STUDIES=3;MAC=19;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EMID1:NM_133455:exon11:c.G1028C:p.R343T,;ANNO=splicing:EMID1
22	29630337	.	G	A	100	PASS	AC=2998;STUDIES=22;MAC=2998;MAF=0.124;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EMID1:NM_133455:exon12:c.G1073A:p.R358Q,;ANNO=splicing:EMID1
22	29664337	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:EWSR1:NM_001163287:exon1:c.G12A:p.T4T,EWSR1:NM_013986:exon1:c.G12A:p.T4T,EWSR1:NM_001163285:exon1:c.G12A:p.T4T,EWSR1:NM_005243:exon1:c.G12A:p.T4T,EWSR1:NM_001163286:exon1:c.G12A:p.T4T,;ANNO=splicing:EWSR1
22	29696113	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:EWSR1:NM_013986:exon18:c.G1948A:p.G650S,EWSR1:NM_001163285:exon17:c.G1930A:p.G644S,EWSR1:NM_005243:exon17:c.G1933A:p.G645S,EWSR1:NM_001163286:exon16:c.G1765A:p.G589S,;ANNO=splicing:EWSR1
22	29735743	.	C	A	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:AP1B1:NM_001127:exon15:c.G2019T:p.G673G,;ANNO=splicing:AP1B1
22	29904509	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:THOC5:NM_003678:exon20:c.G1989A:p.R663R,THOC5:NM_001002879:exon20:c.G1989A:p.R663R,THOC5:NM_001002877:exon21:c.G1989A:p.R663R,THOC5:NM_001002878:exon21:c.G1989A:p.R663R,;ANNO=splicing:THOC5
22	29907284	.	G	C	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:THOC5:NM_003678:exon19:c.C1799T:p.A600V,THOC5:NM_001002879:exon19:c.C1799T:p.A600V,THOC5:NM_001002877:exon20:c.C1799T:p.A600V,THOC5:NM_001002878:exon20:c.C1799T:p.A600V,;ANNO=nonsynonymous:THOC5:NM_003678:exon19:c.C1799G:p.A600G,THOC5:NM_001002879:exon19:c.C1799G:p.A600G,THOC5:NM_001002877:exon20:c.C1799G:p.A600G,THOC5:NM_001002878:exon20:c.C1799G:p.A600G,;ANNO=splicing:THOC5;ANNO=splicing:THOC5
22	30138468	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:ZMAT5:NM_019103:exon4:c.T129C:p.D43D,ZMAT5:NM_001003692:exon3:c.T129C:p.D43D,;ANNO=splicing:ZMAT5
22	30189348	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ASCC2(NM_001242906:c.1691+1G>A,NM_032204:c.1919+1G>A)
22	30221077	.	T	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ASCC2:NM_032204:exon4:c.T410G:p.L137R,;ANNO=splicing:ASCC2
22	30403307	.	C	T	100	PASS	AC=37;STUDIES=5;MAC=37;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MTMR3:NM_153050:exon10:c.C876T:p.F292F,MTMR3:NM_153051:exon10:c.C876T:p.F292F,MTMR3:NM_021090:exon10:c.C876T:p.F292F,;ANNO=splicing:MTMR3
22	30418019	.	C	T	100	PASS	AC=6;STUDIES=5;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MTMR3:NM_021090:exon18:c.C3227T:p.T1076I,;ANNO=splicing:MTMR3
22	30681819	.	A	C	100	PASS	AC=415;STUDIES=3;MAC=415;MAF=0.099;DESIGN=TBD_ASSAY;DSCORE=1.00;HWE_FAILURES=3;ANNO=splicing:GATSL3(NM_001037666:c.921+2T>G)
22	30682006	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:GATSL3:NM_001037666:exon7:c.T825C:p.F275F,;ANNO=splicing:GATSL3
22	30795706	.	A	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SEC14L2:NM_033382:exon2:c.A129C:p.R43R,SEC14L2:NM_001204204:exon2:c.A129C:p.R43R,SEC14L2:NM_012429:exon2:c.A129C:p.R43R,;ANNO=splicing:SEC14L2
22	30822833	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MTFP1(NM_016498:c.195+1G>A,NM_001003704:c.195+1G>A)
22	30886233	.	T	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SEC14L4:NM_174977:exon12:c.A1082T:p.Y361F,;ANNO=splicing:SEC14L4
22	30899741	.	T	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SEC14L4(NM_001161368:c.54-2A>T,NM_174977:c.54-2A>T)
22	30983274	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PES1:NM_014303:exon4:c.C367T:p.R123W,;ANNO=splicing:PES1
22	31266669	.	C	T	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:OSBP2:NM_030758:exon3:c.C1107T:p.N369N,;ANNO=splicing:OSBP2
22	31285477	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:OSBP2:NM_030758:exon7:c.G1477A:p.V493I,;ANNO=splicing:OSBP2
22	31483951	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SMTN:NM_001207018:exon2:c.C220G:p.L74V,SMTN:NM_006932:exon3:c.C52G:p.L18V,SMTN:NM_134269:exon3:c.C52G:p.L18V,SMTN:NM_134270:exon3:c.C52G:p.L18V,SMTN:NM_001207017:exon3:c.C214G:p.L72V,;ANNO=splicing:SMTN
22	31532894	.	C	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLA2G3:NM_015715:exon5:c.G1199A:p.R400H,;ANNO=splicing:PLA2G3
22	31532895	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLA2G3:NM_015715:exon5:c.C1198T:p.R400C,;ANNO=splicing:PLA2G3
22	31668689	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:LIMK2:NM_005569:exon13:c.C1557T:p.N519N,LIMK2:NM_016733:exon12:c.C1494T:p.N498N,LIMK2:NM_001031801:exon12:c.C1494T:p.N498N,;ANNO=splicing:LIMK2
22	31687070	.	C	T	100	PASS	AC=41;STUDIES=3;MAC=41;MAF=0.010;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PIK3IP1:NM_001135911:exon3:c.G188A:p.G63E,PIK3IP1:NM_052880:exon3:c.G188A:p.G63E,;ANNO=splicing:PIK3IP1
22	31867903	.	C	T	100	PASS	AC=82;STUDIES=14;MAC=82;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EIF4ENIF1:NM_019843:exon3:c.G97A:p.E33K,EIF4ENIF1:NM_001164501:exon3:c.G97A:p.E33K,EIF4ENIF1:NM_001164502:exon3:c.G97A:p.E33K,;ANNO=splicing:EIF4ENIF1
22	31946334	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SFI1:NM_014775:exon6:c.G544A:p.D182N,SFI1:NM_001007467:exon6:c.G544A:p.D182N,;ANNO=splicing:SFI1
22	32000930	.	C	T	100	PASS	AC=190;STUDIES=15;MAC=190;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SFI1:NM_014775:exon19:c.C1960T:p.R654C,SFI1:NM_001007467:exon20:c.C2053T:p.R685C,;ANNO=splicing:SFI1
22	32205632	.	A	C	100	PASS	AC=2301;STUDIES=22;MAC=2301;MAF=0.095;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:DEPDC5:NM_014662:exon19:c.C1323C:p.A441A,DEPDC5:NM_001007188:exon19:c.C1323C:p.A441A,DEPDC5:NM_001136029:exon18:c.T1323C:p.S441S,;ANNO=splicing:DEPDC5
22	32241223	.	G	T	100	PASS	AC=10;STUDIES=7;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DEPDC5:NM_014662:exon30:c.G2994T:p.E998D,DEPDC5:NM_001136029:exon29:c.G2994T:p.R998S,;ANNO=splicing:DEPDC5
22	32242953	.	A	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:DEPDC5:NM_014662:exon31:c.A3128G:p.E1043G,DEPDC5:NM_001136029:exon30:c.C3128G:p.P1043R,;ANNO=splicing:DEPDC5
22	32587341	.	T	A	100	PASS	AC=16;STUDIES=7;MAC=16;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:RFPL2(NM_001159546:c.286-2A>T,NM_001159545:c.286-2A>T,NM_006605:c.373-2A>T,NM_001098527:c.556-2A>T)
22	32614712	.	T	C	100	PASS	AC=27;STUDIES=4;MAC=27;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC5A4:NM_014227:exon15:c.A1769G:p.D590G,;ANNO=splicing:SLC5A4
22	32614713	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC5A4(NM_014227:c.1768-1G>A)
22	32625182	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SLC5A4:NM_014227:exon11:c.C1279T:p.R427W,;ANNO=splicing:SLC5A4
22	32643397	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC5A4(NM_014227:c.477+1G>C)
22	32650200	.	C	T	100	PASS	AC=1288;STUDIES=22;MAC=1288;MAF=0.054;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SLC5A4:NM_014227:exon2:c.G136A:p.A46T,;ANNO=splicing:SLC5A4
22	32788227	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C22orf28:NM_014306:exon11:c.G1410A:p.E470E,;ANNO=splicing:C22orf28
22	32875119	.	G	C	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:FBXO7:NM_012179:exon2:c.G274C:p.D92H,;ANNO=splicing:FBXO7(NM_001033024:c.37-1G>C)
22	35478663	.	G	A	100	PASS	AC=17;STUDIES=6;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ISX(NM_001008494:c.381+1G>A)
22	35802718	.	C	T	100	PASS	AC=27;STUDIES=9;MAC=27;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MCM5:NM_006739:exon5:c.C596T:p.T199I,;ANNO=splicing:MCM5
22	36116702	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:APOL5(NM_030642:c.142+1G>A)
22	36556836	.	C	A	100	PASS	AC=27;STUDIES=13;MAC=27;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:APOL3:NM_145640:exon1:c.G104T:p.G35V,;ANNO=splicing:APOL3
22	36595421	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:APOL4:NM_145660:exon3:c.G46A:p.V16M,APOL4:NM_030643:exon4:c.G37A:p.V13M,;ANNO=splicing:APOL4
22	36597744	.	A	C	100	PASS	AC=1646;STUDIES=13;MAC=1646;MAF=0.104;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;ANNO=splicing:APOL4(NM_030643:c.35+2T>G)
22	36598101	.	C	T	100	PASS	AC=15;STUDIES=4;MAC=15;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=splicing:APOL4
22	36689909	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MYH9:NM_002473:exon29:c.G3838A:p.V1280M,;ANNO=splicing:MYH9
22	36716407	.	G	A	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:MYH9:NM_002473:exon9:c.C870T:p.T290T,;ANNO=splicing:MYH9
22	36900812	.	C	T	100	PASS	AC=247;STUDIES=20;MAC=247;MAF=0.011;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FOXRED2:NM_001102371:exon3:c.G529A:p.V177I,FOXRED2:NM_024955:exon3:c.G529A:p.V177I,;ANNO=splicing:FOXRED2
22	37209691	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PVALB:NM_002854:exon4:c.C303T:p.D101D,;ANNO=splicing:PVALB
22	37211148	.	C	T	100	PASS	AC=138;STUDIES=8;MAC=138;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PVALB:NM_002854:exon3:c.G193A:p.G65R,;ANNO=splicing:PVALB
22	37268367	.	A	T	100	PASS	AC=6;STUDIES=2;MAC=6;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NCF4(NM_000631:c.528-2A>T,NM_013416:c.528-2A>T)
22	37273670	.	G	T	100	PASS	AC=10;STUDIES=5;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NCF4:NM_000631:exon10:c.G825T:p.R275S,;ANNO=splicing:NCF4
22	37273671	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:NCF4:NM_000631:exon10:c.C826T:p.R276W,;ANNO=splicing:NCF4
22	37331672	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CSF2RB:NM_000395:exon12:c.G1407C:p.R469S,;ANNO=splicing:CSF2RB
22	37387316	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:C22orf33:NM_178552:exon6:c.G492A:p.G164G,C22orf33:NM_001163857:exon6:c.G747A:p.G249G,;ANNO=splicing:C22orf33
22	37396024	.	G	C	100	PASS	AC=54;STUDIES=6;MAC=54;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:C22orf33:NM_178552:exon4:c.C236G:p.A79G,C22orf33:NM_001163857:exon4:c.C491G:p.A164G,;ANNO=splicing:C22orf33
22	37397876	.	A	G	100	PASS	AC=35;STUDIES=4;MAC=35;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:C22orf33(NM_001163857:c.489+2T>C,NM_178552:c.234+2T>C)
22	37465114	.	G	A	100	PASS	AC=110;STUDIES=3;MAC=110;MAF=0.025;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TMPRSS6:NM_153609:exon16:c.C2139T:p.G713G,;ANNO=splicing:TMPRSS6
22	37480768	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMPRSS6:NM_153609:exon9:c.C1112T:p.T371M,;ANNO=splicing:TMPRSS6
22	37482458	.	C	A	100	PASS	AC=12;STUDIES=8;MAC=12;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMPRSS6:NM_153609:exon8:c.G865T:p.V289L,;ANNO=splicing:TMPRSS6
22	37485618	.	G	A	100	PASS	AC=168;STUDIES=9;MAC=168;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TMPRSS6:NM_153609:exon7:c.C863T:p.S288L,;ANNO=splicing:TMPRSS6
22	37492129	.	C	T	100	PASS	AC=27;STUDIES=4;MAC=27;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TMPRSS6:NM_153609:exon5:c.G433A:p.E145K,;ANNO=splicing:TMPRSS6
22	37499692	.	A	G	100	PASS	AC=837;STUDIES=3;MAC=837;MAF=0.404;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:TMPRSS6
22	37535157	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:IL2RB:NM_000878:exon5:c.C388T:p.L130F,;ANNO=nonsynonymous:IL2RB:NM_000878:exon5:c.C388A:p.L130I,;ANNO=splicing:IL2RB;ANNO=splicing:IL2RB
22	37699442	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CYTH4:NM_013385:exon8:c.G695A:p.R232Q,;ANNO=splicing:CYTH4
22	37876233	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MFNG(NM_001166343:c.365+2C>T,NM_002405:c.407+2C>T)
22	37881961	.	C	T	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MFNG:NM_001166343:exon1:c.G255A:p.Q85Q,MFNG:NM_002405:exon1:c.G255A:p.Q85Q,;ANNO=splicing:MFNG
22	38040711	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SH3BP1:NM_018957:exon8:c.G686A:p.R229H,;ANNO=splicing:SH3BP1
22	38042938	.	T	G	100	PASS	AC=11;STUDIES=2;MAC=11;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SH3BP1(NM_018957:c.1036+2T>G)
22	38147834	.	A	C	100	PASS	AC=12;STUDIES=3;MAC=12;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TRIOBP:NM_001039141:exon12:c.A5378C:p.E1793A,TRIOBP:NM_138632:exon2:c.A239C:p.E80A,TRIOBP:NM_007032:exon2:c.A239C:p.E80A,;ANNO=splicing:TRIOBP
22	38165269	.	G	A	100	PASS	AC=107;STUDIES=18;MAC=107;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRIOBP:NM_001039141:exon21:c.G6736A:p.E2246K,TRIOBP:NM_007032:exon11:c.G1597A:p.E533K,;ANNO=splicing:TRIOBP
22	38211287	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:GCAT:NM_014291:exon5:c.G731A:p.R244Q,GCAT:NM_001171690:exon5:c.G809A:p.R270Q,;ANNO=splicing:GCAT
22	38228644	.	C	T	100	PASS	AC=79;STUDIES=16;MAC=79;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:ANKRD54:NM_138797:exon7:c.G828A:p.Q276Q,;ANNO=splicing:ANKRD54
22	38328894	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:MICALL1:NM_033386:exon12:c.G2233A:p.G745R,;ANNO=splicing:MICALL1
22	38328895	.	T	C	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MICALL1:NM_033386:exon12:c.G2234C:p.G745A,;ANNO=splicing:MICALL1
22	38455241	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PICK1:NM_001039584:exon3:c.C42T:p.L14L,PICK1:NM_012407:exon3:c.C42T:p.L14L,PICK1:NM_001039583:exon3:c.C42T:p.L14L,;ANNO=splicing:PICK1
22	38468617	.	G	A	100	PASS	AC=7;STUDIES=4;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:PICK1:NM_001039584:exon9:c.G690A:p.P230P,PICK1:NM_012407:exon9:c.G690A:p.P230P,PICK1:NM_001039583:exon9:c.G690A:p.P230P,;ANNO=splicing:PICK1
22	38478666	.	C	G	100	PASS	AC=83;STUDIES=11;MAC=83;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SLC16A8(NM_013356:c.214+1G>C)
22	38484755	.	G	A	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;ANNO=nonsynonymous:BAIAP2L2:NM_025045:exon10:c.C1118T:p.A373V,;ANNO=nonsynonymous:BAIAP2L2:NM_025045:exon10:c.C1118A:p.A373E,;ANNO=splicing:BAIAP2L2;ANNO=splicing:BAIAP2L2
22	38522378	.	G	A	100	PASS	AC=14;STUDIES=6;MAC=14;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLA2G6:NM_001199562:exon9:c.C1265T:p.T422I,PLA2G6:NM_001004426:exon9:c.C1265T:p.T422I,PLA2G6:NM_003560:exon10:c.C1427T:p.T476I,;ANNO=splicing:PLA2G6
22	38627339	.	G	A	100	PASS	AC=374;STUDIES=20;MAC=374;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:TMEM184B:NM_012264:exon4:c.C360T:p.A120A,TMEM184B:NM_001195071:exon4:c.C360T:p.A120A,TMEM184B:NM_001195072:exon5:c.C162T:p.A54A,;ANNO=splicing:TMEM184B
22	38710173	.	T	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:CSNK1E
22	38894090	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:DDX17:NM_001098504:exon5:c.C738T:p.I246I,DDX17:NM_006386:exon5:c.C738T:p.I246I,;ANNO=splicing:DDX17
22	39136272	.	G	A	100	PASS	AC=128;STUDIES=5;MAC=128;MAF=0.015;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:SUN2:NM_015374:exon12:c.C1356T:p.D452D,SUN2:NM_001199579:exon12:c.C1419T:p.D473D,SUN2:NM_001199580:exon13:c.C1356T:p.D452D,;ANNO=splicing:SUN2
22	39144787	.	G	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SUN2:NM_015374:exon7:c.C616A:p.R206S,SUN2:NM_001199579:exon7:c.C679A:p.R227S,SUN2:NM_001199580:exon8:c.C616A:p.R206S,;ANNO=splicing:SUN2
22	39145864	.	C	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SUN2:NM_015374:exon6:c.G521T:p.G174V,SUN2:NM_001199579:exon6:c.G584T:p.G195V,SUN2:NM_001199580:exon7:c.G521T:p.G174V,;ANNO=splicing:SUN2
22	39267761	.	A	C	100	PASS	AC=12;STUDIES=2;MAC=12;MAF=0.016;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CBX6:NM_014292:exon3:c.T115G:p.Y39D,;ANNO=splicing:CBX6
22	39358104	.	A	G	100	PASS	AC=32;STUDIES=2;MAC=32;MAF=0.029;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=synonymous:APOBEC3A:NM_145699:exon4:c.A471G:p.E157E,APOBEC3A:NM_001193289:exon4:c.A471G:p.E157E,;ANNO=splicing:APOBEC3A
22	39380235	.	A	C	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;ANNO=nonsynonymous:APOBEC3B:NM_004900:exon2:c.A173C:p.Q58P,;ANNO=splicing:APOBEC3B
22	39380237	.	G	T	100	PASS	AC=17;STUDIES=5;MAC=17;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;ANNO=splicing:APOBEC3B(NM_004900:c.174+1G>T)
22	39382096	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;ANNO=nonsynonymous:APOBEC3B:NM_004900:exon3:c.G454A:p.E152K,;ANNO=splicing:APOBEC3B
22	39385463	.	T	C	100	PASS	AC=28;STUDIES=5;MAC=28;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:APOBEC3B:NM_004900:exon5:c.T571A:p.Y191N,;ANNO=nonsynonymous:APOBEC3B:NM_004900:exon5:c.T571C:p.Y191H,;ANNO=splicing:APOBEC3B;ANNO=splicing:APOBEC3B
22	39441434	.	A	C	100	PASS	AC=21;STUDIES=10;MAC=21;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:APOBEC3F:NM_145298:exon4:c.A453C:p.E151D,;ANNO=splicing:APOBEC3F
22	39497509	.	A	G	100	PASS	AC=22263;STUDIES=19;MAC=97;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:APOBEC3H:NM_001166003:exon3:c.A418G:p.K140E,APOBEC3H:NM_181773:exon3:c.A418G:p.K140E,APOBEC3H:NM_001166002:exon3:c.A418G:p.K140E,APOBEC3H:NM_001166004:exon3:c.A418G:p.N140D,;ANNO=splicing:APOBEC3H
22	39813853	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TAB1:NM_153497:exon5:c.C549T:p.V183V,TAB1:NM_006116:exon5:c.C549T:p.V183V,;ANNO=splicing:TAB1
22	40066958	.	C	T	100	PASS	AC=795;STUDIES=14;MAC=795;MAF=0.042;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CACNA1I:NM_021096:exon26:c.C4538T:p.T1513M,CACNA1I:NM_001003406:exon25:c.C4433T:p.T1478M,;ANNO=splicing:CACNA1I
22	40552119	.	G	A	100	PASS	AC=1673;STUDIES=19;MAC=1673;MAF=0.078;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TNRC6B:NM_001024843:exon4:c.G46A:p.V16M,;ANNO=splicing:TNRC6B
22	40708907	.	G	A	100	PASS	AC=7;STUDIES=5;MAC=7;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TNRC6B:NM_015088:exon17:c.G4254A:p.G1418G,TNRC6B:NM_001162501:exon19:c.G4584A:p.G1528G,TNRC6B:NM_001024843:exon20:c.G2172A:p.G724G,;ANNO=splicing:TNRC6B
22	40803074	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SGSM3:NM_015705:exon11:c.C1239T:p.F413F,;ANNO=splicing:SGSM3
22	40804845	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:SGSM3:NM_015705:exon18:c.G1901A:p.R634Q,;ANNO=splicing:SGSM3
22	41253248	.	A	G	100	PASS	AC=13;STUDIES=4;MAC=13;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:XPNPEP3:NM_001204827:exon1:c.A63G:p.S21S,XPNPEP3:NM_022098:exon1:c.A63G:p.S21S,;ANNO=splicing:XPNPEP3
22	41257620	.	A	C	100	PASS	AC=112;STUDIES=8;MAC=112;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:DNAJB7:NM_145174:exon1:c.T379G:p.Y127D,;ANNO=splicing:XPNPEP3(NM_001204827:c.180-2A>C)
22	41526007	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:EP300:NM_001429:exon5:c.C1282T:p.P428S,;ANNO=splicing:EP300
22	41564725	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:EP300:NM_001429:exon25:c.G4026A:p.R1342R,;ANNO=splicing:EP300
22	41612265	.	C	T	100	PASS	AC=28;STUDIES=6;MAC=28;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:L3MBTL2:NM_031488:exon4:c.C519T:p.D173D,;ANNO=splicing:L3MBTL2
22	41631149	.	C	T	100	PASS	AC=18;STUDIES=3;MAC=18;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CHADL:NM_138481:exon5:c.G2262A:p.K754K,;ANNO=splicing:CHADL
22	41737149	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ZC3H7B:NM_017590:exon11:c.C1196T:p.S399L,;ANNO=splicing:ZC3H7B
22	41763602	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:TEF:NM_001145398:exon1:c.A66G:p.T22T,;ANNO=splicing:TEF
22	41924483	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;TRIALLELIC;ANNO=nonsynonymous:ACO2:NM_001098:exon18:c.C2209A:p.P737T,;ANNO=nonsynonymous:ACO2:NM_001098:exon18:c.C2209T:p.P737S,;ANNO=splicing:ACO2;ANNO=splicing:ACO2
22	41926892	.	G	A	100	PASS	AC=13;STUDIES=8;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:POLR3H:NM_001018052:exon4:c.C273T:p.F91F,POLR3H:NM_138338:exon6:c.C360T:p.F120F,POLR3H:NM_001018050:exon5:c.C360T:p.F120F,;ANNO=splicing:POLR3H
22	42264796	.	G	A	100	PASS	AC=13;STUDIES=8;MAC=13;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SREBF2:NM_004599:exon3:c.G720A:p.P240P,;ANNO=splicing:SREBF2
22	42281015	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:SREBF2:NM_004599:exon11:c.C2208T:p.A736A,;ANNO=splicing:SREBF2
22	42341308	.	A	G	100	PASS	AC=5668;STUDIES=22;MAC=5668;MAF=0.234;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CENPM:NM_024053:exon4:c.T231C:p.S77S,CENPM:NM_001002876:exon4:c.T231C:p.S77S,;ANNO=splicing:CENPM
22	42486611	.	A	G	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:NDUFA6:NM_002490:exon1:c.T216C:p.T72T,;ANNO=splicing:NDUFA6
22	42523636	.	C	A	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_FORWARD;EXON_FORWARD;HWE_FAILURES=2;ANNO=nonsynonymous:CYP2D6:NM_000106:exon7:c.G986T:p.R329L,CYP2D6:NM_001025161:exon6:c.G833T:p.R278L,;ANNO=splicing:CYP2D6
22	42523844	.	G	A	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:CYP2D6:NM_000106:exon6:c.C985T:p.R329C,CYP2D6:NM_001025161:exon5:c.C832T:p.R278C,;ANNO=splicing:CYP2D6
22	42524947	.	C	T	100	PASS	AC=2093;STUDIES=16;MAC=2093;MAF=0.142;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;HWE_FAILURES=1;ANNO=splicing:CYP2D6(NM_000106:c.505-1G>A,NM_001025161:c.352-1G>A)
22	42525035	.	C	T	100	PASS	AC=9;STUDIES=3;MAC=9;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=stopgain:CYP2D6:NM_000106:exon3:c.G505T:p.G169X,;ANNO=nonsynonymous:CYP2D6:NM_000106:exon3:c.G505A:p.G169R,;ANNO=splicing:CYP2D6;ANNO=splicing:CYP2D6
22	42525036	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_FORWARD;EXON_REVERSE;ANNO=synonymous:CYP2D6:NM_000106:exon3:c.C504T:p.S168S,;ANNO=splicing:CYP2D6
22	42525912	.	C	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CYP2D6(NM_000106:c.180-1G>C,NM_001025161:c.180-1G>C)
22	42557363	.	A	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TCF20:NM_181492:exon4:c.T5801C:p.V1934A,;ANNO=splicing:TCF20
22	42956273	.	T	A	100	PASS	AC=67;STUDIES=5;MAC=67;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SERHL2(NM_014509:c.613+2T>A)
22	42968536	.	G	A	100	PASS	AC=296;STUDIES=7;MAC=296;MAF=0.048;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;ANNO=splicing:SERHL2(NM_014509:c.825+1G>A)
22	42968537	.	T	A	100	PASS	AC=9;STUDIES=6;MAC=9;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=0.60;MULTIMAP_FORWARD;MULTIMAP_REVERSE;SNP_ON_LEFT;ANNO=splicing:SERHL2(NM_014509:c.825+2T>A)
22	42969943	.	A	G	100	PASS	AC=48;STUDIES=10;MAC=48;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=0.70;MULTIMAP_FORWARD;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:SERHL2:NM_014509:exon12:c.A827G:p.Q276R,;ANNO=splicing:SERHL2
22	43195045	.	C	G	100	PASS	AC=11;STUDIES=4;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ARFGAP3:NM_014570:exon15:c.G1533C:p.Q511H,ARFGAP3:NM_001142293:exon14:c.G1401C:p.Q467H,;ANNO=splicing:ARFGAP3
22	43206950	.	A	C	100	PASS	AC=13672;STUDIES=21;MAC=8808;MAF=0.392;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=nonsynonymous:ARFGAP3:NM_014570:exon12:c.T1065G:p.S355R,ARFGAP3:NM_001142293:exon11:c.T933G:p.S311R,;ANNO=splicing:ARFGAP3
22	43218276	.	A	G	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:ARFGAP3:NM_014570:exon9:c.T812C:p.I271T,ARFGAP3:NM_001142293:exon8:c.T680C:p.I227T,;ANNO=splicing:ARFGAP3
22	43464416	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TTLL1:NM_012263:exon5:c.C503T:p.S168L,;ANNO=splicing:TTLL1
22	43568410	.	G	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TTLL12:NM_015140:exon10:c.C1492G:p.R498G,;ANNO=splicing:TTLL12
22	43572402	.	C	T	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TTLL12:NM_015140:exon6:c.G841A:p.A281T,;ANNO=splicing:TTLL12
22	43576006	.	T	C	100	PASS	AC=9;STUDIES=4;MAC=9;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TTLL12:NM_015140:exon4:c.A547G:p.T183A,;ANNO=splicing:TTLL12
22	43654225	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SCUBE1:NM_173050:exon6:c.G727A:p.E243K,;ANNO=splicing:SCUBE1
22	44280225	.	G	A	100	PASS	AC=5;STUDIES=4;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PNPLA5:NM_138814:exon7:c.C950T:p.A317V,PNPLA5:NM_001177675:exon5:c.C608T:p.A203V,;ANNO=splicing:PNPLA5
22	44282368	.	C	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PNPLA5:NM_138814:exon6:c.G764T:p.G255V,PNPLA5:NM_001177675:exon4:c.G422T:p.G141V,;ANNO=splicing:PNPLA5
22	44282369	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PNPLA5(NM_138814:c.763-1G>A,NM_001177675:c.421-1G>A)
22	44285418	.	G	A	100	PASS	AC=5;STUDIES=3;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:PNPLA5:NM_138814:exon4:c.C493T:p.R165C,;ANNO=splicing:PNPLA5
22	44489896	.	T	C	100	PASS	AC=13817;STUDIES=20;MAC=9451;MAF=0.406;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=1;ANNO=synonymous:PARVB:NM_001003828:exon3:c.T300C:p.L100L,PARVB:NM_013327:exon2:c.T201C:p.L67L,;ANNO=splicing:PARVB
22	44536003	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:PARVB(NM_001003828:c.791-1G>T,NM_013327:c.692-1G>T)
22	44564483	.	C	T	100	PASS	AC=4;STUDIES=4;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:PARVB:NM_001003828:exon14:c.C1119T:p.D373D,PARVB:NM_013327:exon13:c.C1020T:p.D340D,;ANNO=splicing:PARVB
22	45255713	.	C	T	100	PASS	AC=39;STUDIES=5;MAC=39;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:PRR5-ARHGAP8:NM_181334:exon14:c.C1346A:p.A449E,ARHGAP8:NM_181335:exon11:c.C980A:p.A327E,ARHGAP8:NM_001017526:exon12:c.C1073A:p.A358E,;ANNO=nonsynonymous:PRR5-ARHGAP8:NM_181334:exon14:c.C1346T:p.A449V,ARHGAP8:NM_181335:exon11:c.C980T:p.A327V,ARHGAP8:NM_001017526:exon12:c.C1073T:p.A358V,;ANNO=splicing:ARHGAP8,PRR5-ARHGAP8;ANNO=splicing:ARHGAP8,PRR5-ARHGAP8
22	45255714	.	G	A	100	PASS	AC=84;STUDIES=9;MAC=84;MAF=0.007;DESIGN=TBD_ASSAY;DSCORE=1.10;MULTIMAP_REVERSE;EXON_FORWARD;TRIALLELIC;ANNO=synonymous:PRR5-ARHGAP8:NM_181334:exon14:c.G1347A:p.A449A,ARHGAP8:NM_181335:exon11:c.G981A:p.A327A,ARHGAP8:NM_001017526:exon12:c.G1074A:p.A358A,;ANNO=synonymous:PRR5-ARHGAP8:NM_181334:exon14:c.G1347C:p.A449A,ARHGAP8:NM_181335:exon11:c.G981C:p.A327A,ARHGAP8:NM_001017526:exon12:c.G1074C:p.A358A,;ANNO=splicing:ARHGAP8,PRR5-ARHGAP8;ANNO=splicing:ARHGAP8,PRR5-ARHGAP8
22	45560641	.	T	C	100	PASS	AC=477;STUDIES=2;MAC=477;MAF=0.293;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NUP50
22	45574119	.	G	A	100	PASS	AC=11;STUDIES=3;MAC=11;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.00;MULTIMAP_REVERSE;EXON_REVERSE;ANNO=nonsynonymous:NUP50:NM_007172:exon5:c.G341A:p.G114D,NUP50:NM_153645:exon6:c.G257A:p.G86D,;ANNO=splicing:NUP50
22	45598872	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:KIAA0930:NM_015264:exon7:c.G866A:p.R289Q,KIAA0930:NM_001009880:exon7:c.G851A:p.R284Q,;ANNO=splicing:KIAA0930
22	45607987	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:KIAA0930:NM_015264:exon2:c.G81T:p.G27G,KIAA0930:NM_001009880:exon2:c.G66T:p.G22G,;ANNO=splicing:KIAA0930
22	45608347	.	G	A	100	PASS	AC=686;STUDIES=3;MAC=686;MAF=0.339;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=splicing:KIAA0930
22	45685024	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:UPK3A:NM_006953:exon4:c.C571T:p.L191F,;ANNO=splicing:UPK3A
22	45685025	.	G	A	100	PASS	AC=38;STUDIES=5;MAC=38;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:UPK3A(NM_006953:c.571+1G>A)
22	45946495	.	C	T	100	PASS	AC=20;STUDIES=5;MAC=20;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:FBLN1:NM_006487:exon14:c.C1697T:p.T566I,FBLN1:NM_006485:exon14:c.C1697T:p.T566M,FBLN1:NM_001996:exon14:c.C1697T:p.T566I,FBLN1:NM_006486:exon14:c.C1697T:p.T566M,;ANNO=splicing:FBLN1
22	46085782	.	A	G	100	PASS	AC=10;STUDIES=4;MAC=10;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ATXN10:NM_013236:exon2:c.A307G:p.R103G,;ANNO=splicing:ATXN10
22	46614297	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:PPARA:NM_005036:exon6:c.C507T:p.N169N,PPARA:NM_001001928:exon5:c.C507T:p.N169N,;ANNO=splicing:PPARA
22	46664412	.	C	T	100	PASS	AC=281;STUDIES=17;MAC=281;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TTC38:NM_017931:exon2:c.C35T:p.A12V,;ANNO=splicing:TTC38
22	46693375	.	A	G	100	PASS	AC=96;STUDIES=8;MAC=96;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:GTSE1:NM_016426:exon2:c.A78G:p.E26E,;ANNO=splicing:GTSE1
22	46746188	.	C	T	100	PASS	AC=163;STUDIES=10;MAC=163;MAF=0.013;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:TRMU:NM_018006:exon5:c.C479T:p.A160V,;ANNO=splicing:TRMU
22	46762891	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CELSR1:NM_014246:exon29:c.C8204T:p.T2735M,;ANNO=splicing:CELSR1
22	46772958	.	C	T	100	PASS	AC=68;STUDIES=11;MAC=68;MAF=0.005;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:CELSR1:NM_014246:exon24:c.G7584A:p.P2528P,;ANNO=splicing:CELSR1
22	46790159	.	T	C	100	PASS	AC=15;STUDIES=5;MAC=15;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CELSR1:NM_014246:exon14:c.A5844G:p.K1948K,;ANNO=splicing:CELSR1
22	46829377	.	G	A	100	PASS	AC=706;STUDIES=20;MAC=706;MAF=0.031;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CELSR1:NM_014246:exon5:c.C4524T:p.G1508G,;ANNO=splicing:CELSR1
22	46835086	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:CELSR1:NM_014246:exon3:c.C4406T:p.T1469M,;ANNO=splicing:CELSR1
22	47060014	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GRAMD4:NM_015124:exon7:c.C717T:p.T239T,;ANNO=splicing:GRAMD4
22	47069710	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:GRAMD4:NM_015124:exon14:c.G1383A:p.A461A,;ANNO=splicing:GRAMD4
22	47103884	.	T	C	100	PASS	AC=131;STUDIES=11;MAC=131;MAF=0.009;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:CERK:NM_022766:exon6:c.A571G:p.I191V,;ANNO=splicing:CERK
22	47108189	.	C	T	100	PASS	AC=656;STUDIES=22;MAC=656;MAF=0.028;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CERK:NM_022766:exon4:c.G381A:p.T127T,;ANNO=splicing:CERK
22	47116913	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CERK(NM_022766:c.142-1G>A)
22	50297714	.	C	G	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALG12:NM_024105:exon10:c.G1239C:p.R413S,;ANNO=splicing:ALG12
22	50302995	.	C	G	100	PASS	AC=7;STUDIES=3;MAC=7;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:ALG12:NM_024105:exon6:c.G665C:p.G222A,;ANNO=splicing:ALG12
22	50312877	.	G	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:CRELD2(NM_001135101:c.129-1G>T,NM_024324:c.129-1G>T)
22	50515270	.	T	C	100	PASS	AC=2762;STUDIES=21;MAC=2762;MAF=0.118;DESIGN=TBD_ASSAY;DSCORE=1.00;EXON_REVERSE;SNP_ON_RIGHT;ANNO=synonymous:MLC1:NM_015166:exon7:c.A597G:p.S199S,MLC1:NM_139202:exon7:c.A597G:p.S199S,;ANNO=splicing:MLC1
22	50599253	.	G	A	100	PASS	AC=10;STUDIES=6;MAC=10;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:MOV10L1:NM_001164105:exon25:c.G3401A:p.R1134Q,MOV10L1:NM_018995:exon25:c.G3461A:p.R1154Q,MOV10L1:NM_001164106:exon7:c.G842A:p.R281Q,;ANNO=splicing:MOV10L1
22	50636774	.	C	T	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:TRABD:NM_025204:exon10:c.C957T:p.T319T,;ANNO=splicing:TRABD
22	50649061	.	T	G	100	PASS	AC=15;STUDIES=2;MAC=15;MAF=0.139;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:SELO:NM_031454:exon5:c.T1072G:p.Y358D,;ANNO=splicing:SELO
22	50654298	.	T	G	100	PASS	AC=6;STUDIES=4;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:SELO(NM_031454:c.1502+2T>G)
22	50657884	.	G	A	100	PASS	AC=19;STUDIES=5;MAC=19;MAF=0.003;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;ANNO=synonymous:TUBGCP6:NM_020461:exon19:c.C4317T:p.S1439S,;ANNO=synonymous:TUBGCP6:NM_020461:exon19:c.C4317A:p.S1439S,;ANNO=splicing:TUBGCP6;ANNO=splicing:TUBGCP6
22	50657884	.	G	T	100	PASS	AC=33;STUDIES=3;MAC=33;MAF=0.014;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;TRIALLELIC;TRIALLELIC_RARE;ANNO=synonymous:TUBGCP6:NM_020461:exon19:c.C4317T:p.S1439S,;ANNO=synonymous:TUBGCP6:NM_020461:exon19:c.C4317A:p.S1439S,;ANNO=splicing:TUBGCP6;ANNO=splicing:TUBGCP6
22	50665163	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:TUBGCP6:NM_020461:exon7:c.C1600T:p.R534W,;ANNO=splicing:TUBGCP6
22	50668005	.	G	A	100	PASS	AC=36;STUDIES=5;MAC=36;MAF=0.006;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:TUBGCP6:NM_020461:exon4:c.C1118T:p.P373L,;ANNO=splicing:TUBGCP6
22	50684256	.	T	C	100	PASS	AC=447;STUDIES=16;MAC=447;MAF=0.024;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=nonsynonymous:HDAC10:NM_001159286:exon18:c.A1774G:p.N592D,HDAC10:NM_032019:exon19:c.A1834G:p.N612D,;ANNO=splicing:HDAC10
22	50685303	.	C	T	100	PASS	AC=5;STUDIES=2;MAC=5;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:HDAC10(NM_032019:c.1514+1G>A,NM_001159286:c.1454+1G>A)
22	50687883	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:HDAC10:NM_001159286:exon7:c.C564T:p.S188S,HDAC10:NM_032019:exon7:c.C564T:p.S188S,;ANNO=splicing:HDAC10
22	50694239	.	G	A	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:MAPK12:NM_002969:exon8:c.C691T:p.H231Y,;ANNO=splicing:MAPK12
22	50695510	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:MAPK12(NM_002969:c.426+1G>A)
22	50704655	.	G	A	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=synonymous:MAPK11:NM_002751:exon9:c.C762T:p.H254H,;ANNO=splicing:MAPK11
22	50713409	.	A	G	100	PASS	AC=852;STUDIES=2;MAC=852;MAF=0.467;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=splicing:PLXNB2
22	50715271	.	T	C	100	PASS	AC=6;STUDIES=3;MAC=6;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:PLXNB2:NM_012401:exon34:c.A5261G:p.D1754G,;ANNO=splicing:PLXNB2
22	50716167	.	G	A	100	PASS	AC=10012;STUDIES=19;MAC=8256;MAF=0.452;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;HWE_FAILURES=3;ANNO=synonymous:PLXNB2:NM_012401:exon33:c.C5049T:p.S1683S,;ANNO=splicing:PLXNB2
22	50719174	.	T	C	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLXNB2:NM_012401:exon24:c.A3992G:p.N1331S,;ANNO=splicing:PLXNB2
22	50723094	.	C	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.004;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:PLXNB2:NM_012401:exon12:c.G2089T:p.G697C,;ANNO=splicing:PLXNB2
22	50886873	.	C	T	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:SBF1:NM_002972:exon38:c.G5152A:p.G1718S,;ANNO=splicing:SBF1
22	50925894	.	G	A	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.000;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=synonymous:MIOX:NM_017584:exon2:c.G96A:p.T32T,;ANNO=splicing:MIOX
22	50943232	.	G	A	100	PASS	AC=4022;STUDIES=19;MAC=4022;MAF=0.204;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;HWE_FAILURES=1;ANNO=nonsynonymous:LMF2:NM_033200:exon10:c.C1436T:p.T479M,;ANNO=splicing:LMF2
22	50943414	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:LMF2(NM_033200:c.1254-1G>A)
22	50957160	.	A	G	100	PASS	AC=3;STUDIES=3;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:NCAPH2:NM_014551:exon8:c.A729G:p.P243P,NCAPH2:NM_152299:exon8:c.A729G:p.P243P,NCAPH2:NM_001185011:exon8:c.A729G:p.P243P,;ANNO=splicing:NCAPH2
22	50960682	.	C	T	100	PASS	AC=4006;STUDIES=19;MAC=4006;MAF=0.185;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:NCAPH2(NM_152299:c.1233+2C>T,NM_001185011:c.1233+2C>T)
22	50969367	.	T	G	100	PASS	AC=2;STUDIES=2;MAC=2;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=nonsynonymous:ODF3B:NM_001014440:exon5:c.A539C:p.K180T,;ANNO=splicing:ODF3B
22	51010737	.	C	T	100	PASS	AC=22;STUDIES=9;MAC=22;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_FORWARD;ANNO=synonymous:CPT1B:NM_152246:exon12:c.G1353A:p.R451R,CPT1B:NM_001145137:exon11:c.G1353A:p.R451R,CPT1B:NM_152245:exon12:c.G1353A:p.R451R,CPT1B:NM_004377:exon12:c.G1353A:p.R451R,CPT1B:NM_001145134:exon11:c.G1251A:p.R417R,CPT1B:NM_001145135:exon12:c.G1353A:p.R451R,CPT1B:NM_001145136:exon12:c.G1110A:p.R370R,;ANNO=splicing:CPT1B
22	51014966	.	C	T	100	PASS	AC=4;STUDIES=2;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;TRIALLELIC;TRIALLELIC_RARE;ANNO=nonsynonymous:CPT1B:NM_152246:exon5:c.G560T:p.R187L,CPT1B:NM_001145137:exon4:c.G560T:p.R187L,CPT1B:NM_152245:exon5:c.G560T:p.R187L,CPT1B:NM_004377:exon5:c.G560T:p.R187L,CPT1B:NM_001145135:exon5:c.G560T:p.R187L,CPT1B:NM_001145136:exon5:c.G560T:p.R187L,;ANNO=nonsynonymous:CPT1B:NM_152246:exon5:c.G560A:p.R187Q,CPT1B:NM_001145137:exon4:c.G560A:p.R187Q,CPT1B:NM_152245:exon5:c.G560A:p.R187Q,CPT1B:NM_004377:exon5:c.G560A:p.R187Q,CPT1B:NM_001145135:exon5:c.G560A:p.R187Q,CPT1B:NM_001145136:exon5:c.G560A:p.R187Q,;ANNO=splicing:CPT1B;ANNO=splicing:CPT1B
22	51018157	.	G	A	100	PASS	AC=3;STUDIES=2;MAC=3;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CHKB:NM_005198:exon9:c.C1030T:p.R344W,;ANNO=splicing:CHKB
22	51019849	.	C	T	100	PASS	AC=4;STUDIES=3;MAC=4;MAF=0.001;DESIGN=TBD_ASSAY;DSCORE=1.10;EXON_REVERSE;ANNO=nonsynonymous:CHKB:NM_005198:exon4:c.G581A:p.R194Q,;ANNO=splicing:CHKB
22	51065593	.	C	T	100	PASS	AC=12;STUDIES=6;MAC=12;MAF=0.002;DESIGN=TBD_ASSAY;DSCORE=1.00;ANNO=splicing:ARSA(NM_001085427:c.465+1G>A,NM_001085426:c.465+1G>A,NM_000487:c.465+1G>A,NM_001085425:c.465+1G>A,NM_001085428:c.207+1G>A)