CHROM	POS	ID	REF	ALT	SON_GT_DP_GQ	FATHER_GT_DP_GQ	SISTER_GT_DP_GQ	MOTHER_GT_DP_GQ	PARENT_OF_ORIGIN_UNPHASED	EFF
1	11906068	rs5065	A	G	0/1:57:99	0/1:24:99	0/0:18:54	0/0:21:60	paternal	DOWNSTREAM(MODIFIER||||847|CLCN6||CODING|NM_001256959.1||1),DOWNSTREAM(MODIFIER||||869|CLCN6||CODING|NM_001286.3||1),DOWNSTREAM(MODIFIER|||||CLCN6||CODING|NR_046428.1||1),INTRON(MODIFIER|||||NPPA-AS1||NON_CODING|NR_037806.1|3|1),STOP_LOST(HIGH|MISSENSE|Tga/Cga|*152R|151|NPPA||CODING|NM_006172.3|3|1)
1	12939546	.	C	CG	0/1:132:99	0/1:113:99	0/0:121:99	0/0:132:99	paternal	FRAME_SHIFT(HIGH||-/C|-419?|478|PRAMEF4||CODING|NM_001009611.2|4|1)
1	20501582	rs12139100	G	A	0/1:45:99	0/0:47:99	0/1:50:99	0/1:53:99	maternal	STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R36*|150|PLA2G2C||CODING|NM_001105572.1|1|1)
1	24710405	rs12090888	A	G	0/1:89:99	0/0:52:99	0/1:57:99	0/1:44:99	maternal	NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M46T|287|STPG1||CODING|NM_178122.4|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M93T|334|STPG1||CODING|NM_001199012.1|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M93T|334|STPG1||CODING|NM_001199013.1|4|1),START_LOST(HIGH|MISSENSE|aTg/aCg|M1T|242|STPG1||CODING|NM_001199014.1|5|1)
1	145606274	.	C	T	0/1:37:99	0/1:20:99	0/1:27:99	0/0:29:84	paternal	INTRON(MODIFIER||||3626|NBPF10||CODING|NM_001039703.5|68|1),INTRON(MODIFIER||||534|POLR3C||CODING|NM_006468.6|5|1),SPLICE_SITE_DONOR(HIGH||||534|POLR3C||CODING|NM_006468.6|5|1),UPSTREAM(MODIFIER||||304|RNF115||CODING|NM_014455.2||1)
1	152323132	rs12568784	G	T	0/1:60:99	0/1:43:99	0/1:40:99	0/0:31:93	paternal	STOP_GAINED(HIGH|NONSENSE|tCa/tAa|S2377*|2391|FLG2||CODING|NM_001014342.2|3|1)
1	156354347	rs11303415	TC	T	0/1:59:99	0/0:19:54	0/1:18:99	0/1:18:94	maternal	EXON(MODIFIER|||||RHBG||CODING|NR_046115.1|10|1),INTRON(MODIFIER||||389|RHBG||CODING|NM_001256395.1|10|1),INTRON(MODIFIER||||428|RHBG||CODING|NM_001256396.1|10|1),INTRON(MODIFIER||||458|RHBG||CODING|NM_020407.4|9|1),SPLICE_SITE_ACCEPTOR(HIGH||||389|RHBG||CODING|NM_001256395.1|11|1),SPLICE_SITE_ACCEPTOR(HIGH||||428|RHBG||CODING|NM_001256396.1|11|1),SPLICE_SITE_ACCEPTOR(HIGH||||458|RHBG||CODING|NM_020407.4|10|1),SPLICE_SITE_DONOR(HIGH||||389|RHBG||CODING|NM_001256395.1|10|1),SPLICE_SITE_DONOR(HIGH||||428|RHBG||CODING|NM_001256396.1|10|1),SPLICE_SITE_DONOR(HIGH||||458|RHBG||CODING|NM_020407.4|9|1)
1	223285200	rs5744168	G	A	0/1:38:99	0/0:45:99	0/0:34:99	0/1:39:99	maternal	STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R392*|858|TLR5||CODING|NM_003268.5|6|1)
1	248685789	.	T	TC	0/1:33:99	0/0:27:81	0/0:39:99	0/1:28:99	maternal	FRAME_SHIFT(HIGH||-/C|-281?|316|OR2G6||CODING|NM_001013355.1|1|1)
2	24413293	.	CA	C	0/1:22:99	0/1:24:99	0/0:17:51	0/0:16:45	paternal	FRAME_SHIFT(HIGH||-|-139|206|FAM228A||CODING|NM_001040710.1|6|1)
2	44528267	rs146761937	GT	G	0/1:23:99	0/0:10:27	0/1:12:99	0/1:11:99	maternal	INTRON(MODIFIER||||685|SLC3A1||CODING|NM_000341.3|6|1),SPLICE_SITE_DONOR(HIGH||||685|SLC3A1||CODING|NM_000341.3|6|1)
2	61361325	rs142269591	TG	T	0/1:10:99	0/0:17:51	0/1:14:99	0/1:15:99	maternal	FRAME_SHIFT(HIGH||-|-695|707|KIAA1841||CODING|NM_032506.2|21|1)
2	69659126	rs4453725	A	T	0/1:33:99	0/1:21:99	0/0:18:54	0/0:15:45	paternal	EXON(MODIFIER|||||NFU1||CODING|NR_045631.1|2|1),EXON(MODIFIER|||||NFU1||CODING|NR_045632.1|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aAg|M25K|254|NFU1||CODING|NM_001002755.2|2|1),START_LOST(HIGH|MISSENSE|aTg/aAg|M1K|230|NFU1||CODING|NM_015700.3|2|1),UTR_5_PRIME(MODIFIER||||113|NFU1||CODING|NM_001002756.2|2|1)
3	56653839	.	CTG	C	0/1:97:99	0/0:78:99	0/1:76:99	0/1:79:99	maternal	DOWNSTREAM(MODIFIER||||1233|FAM208A||CODING|NM_015224.3||1),DOWNSTREAM(MODIFIER||||1512|FAM208A||CODING|NM_001112736.1||1),EXON(MODIFIER|||||CCDC66||CODING|NR_024460.1|17|1),FRAME_SHIFT(HIGH||-|-857|914|CCDC66||CODING|NM_001012506.4|17|1),FRAME_SHIFT(HIGH||-|-891|948|CCDC66||CODING|NM_001141947.1|17|1)
3	195453017	rs144288174	GC	G	0/1:22:99	0/0:34:99	0/1:27:99	0/1:18:99	maternal	FRAME_SHIFT(HIGH||-|-309|503|MUC20||CODING|NM_001098516.1|2|1),FRAME_SHIFT(HIGH||-|-344|538|MUC20||CODING|NM_152673.2|3|1)
4	88231392	rs35784587	T	TA	0/1:22:99	1/1:29:84	0/1:36:99	0/0:36:99	paternal	INTRON(MODIFIER||||264|HSD17B13||CODING|NM_001136230.1|5|1),INTRON(MODIFIER||||300|HSD17B13||CODING|NM_178135.3|6|1),SPLICE_SITE_DONOR(HIGH||||264|HSD17B13||CODING|NM_001136230.1|5|1),SPLICE_SITE_DONOR(HIGH||||300|HSD17B13||CODING|NM_178135.3|6|1)
4	165878621	.	G	A	0/1:32:99	0/1:17:99	0/0:22:66	0/0:18:51	paternal	INTRON(MODIFIER||||209|TRIM61||CODING|NM_001012414.2|3|1),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W149*|157|FAM218A||CODING|NM_153027.1|1|1)
5	134782450	rs12520799	T	A	0/1:104:99	0/0:43:99	0/1:38:99	1/1:39:99	maternal	DOWNSTREAM(MODIFIER||||161|TIFAB||CODING|NM_001099221.1||1),STOP_GAINED(HIGH|NONSENSE|Aga/Tga|R117*|244|C5orf20||CODING|NM_130848.2|1|1)
5	135272373	rs35444976	C	CA	0/1:67:99	0/0:48:99	0/0:48:99	0/1:59:99	maternal	FRAME_SHIFT(HIGH||-/A|-31?|434|FBXL21||CODING|NM_012159.4|5|1)
5	140772898	rs3214276	GC	G	0/1:81:99	0/1:50:99	0/1:58:99	0/0:43:99	paternal	DOWNSTREAM(MODIFIER||||803|PCDHGB4||CODING|NM_032098.1||1),FRAME_SHIFT(HIGH||-|-173|820|PCDHGA8||CODING|NM_014004.2|1|1),FRAME_SHIFT(HIGH||-|-173|932|PCDHGA8||CODING|NM_032088.1|1|1),INTRON(MODIFIER||||923|PCDHGB4||CODING|NM_003736.2|1|1),INTRON(MODIFIER||||927|PCDHGB1||CODING|NM_018922.2|1|1),INTRON(MODIFIER||||929|PCDHGB3||CODING|NM_018924.2|1|1),INTRON(MODIFIER||||931|PCDHGA1||CODING|NM_018912.2|1|1),INTRON(MODIFIER||||931|PCDHGA4||CODING|NM_018917.2|1|1),INTRON(MODIFIER||||931|PCDHGA5||CODING|NM_018918.2|1|1),INTRON(MODIFIER||||931|PCDHGB2||CODING|NM_018923.2|1|1),INTRON(MODIFIER||||932|PCDHGA2||CODING|NM_018915.2|1|1),INTRON(MODIFIER||||932|PCDHGA3||CODING|NM_018916.3|1|1),INTRON(MODIFIER||||932|PCDHGA6||CODING|NM_018919.2|1|1),INTRON(MODIFIER||||932|PCDHGA7||CODING|NM_018920.2|1|1),UPSTREAM(MODIFIER||||818|PCDHGB5||CODING|NM_032099.1||1),UPSTREAM(MODIFIER||||923|PCDHGB5||CODING|NM_018925.2||1)
5	180582256	rs140598308	TTGTC	T	0/1:63:99	0/0:37:96	0/1:22:99	0/1:22:99	maternal	FRAME_SHIFT(HIGH||-|-105|315|OR2V2||CODING|NM_206880.1|1|1)
6	31106500	rs111966729	T	TC	0/1:96:99	1/1:29:81	0/1:23:99	0/0:32:81	paternal	DOWNSTREAM(MODIFIER||||782|CCHCR1||CODING|NM_019052.3||1),DOWNSTREAM(MODIFIER||||835|CCHCR1||CODING|NM_001105563.1||1),DOWNSTREAM(MODIFIER||||871|CCHCR1||CODING|NM_001105564.1.4||1),FRAME_SHIFT(HIGH||-/C|-38?|152|PSORS1C1||CODING|NM_014068.2|5|1),INTRON(MODIFIER||||136|PSORS1C2||CODING|NM_014069.2|1|1)
6	31124849	rs115419545	C	T	0/1:13:99	0/0:37:99	0/0:44:99	0/1:37:99	maternal	STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W78*|835|CCHCR1||CODING|NM_001105563.1|2|1),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W78*|871|CCHCR1||CODING|NM_001105564.1.4|2|1),UPSTREAM(MODIFIER||||345|TCF19||CODING|NM_001077511.1||1),UPSTREAM(MODIFIER||||345|TCF19||CODING|NM_007109.2.6||1),UTR_5_PRIME(MODIFIER||||782|CCHCR1||CODING|NM_019052.3|2|1)
6	31125257	rs72856718	C	A	0/1:32:99	1/1:12:36	0/1:16:99	0/0:24:72	paternal	INTRON(MODIFIER||||782|CCHCR1||CODING|NM_019052.3|1|1),STOP_GAINED(HIGH|NONSENSE|Gaa/Taa|E41*|835|CCHCR1||CODING|NM_001105563.1|1|1),STOP_GAINED(HIGH|NONSENSE|Gaa/Taa|E41*|871|CCHCR1||CODING|NM_001105564.1.4|1|1),UPSTREAM(MODIFIER||||345|TCF19||CODING|NM_001077511.1||1),UPSTREAM(MODIFIER||||345|TCF19||CODING|NM_007109.2.6||1)
6	132203615	.	G	A	0/1:85:99	0/0:58:99	0/1:48:99	0/1:49:99	maternal	INTRON(MODIFIER||||925|ENPP1||CODING|NM_006208.2|21|1),SPLICE_SITE_DONOR(HIGH||||925|ENPP1||CODING|NM_006208.2|21|1)
6	154567863	rs34427887	C	T	0/1:32:99	0/0:38:99	0/1:37:99	0/1:30:99	maternal	STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R401*|418|OPRM1||CODING|NM_001008503.1|4|1),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S35|437|IPCEF1||CODING|NM_015553.2|5|1),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S36|438|IPCEF1||CODING|NM_001130699.1|6|1),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S36|438|IPCEF1||CODING|NM_001130700.1|5|1)
7	44610376	.	G	A	0/1:63:99	0/1:42:99	0/1:21:99	0/0:46:99	paternal	INTRON(MODIFIER||||507|DDX56||CODING|NM_001257189.1|6|1),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R331*|547|DDX56||CODING|NM_019082.3|7|1)
7	76069617	.	TG	T	0/1:28:99	0/0:11:33	0/1:16:99	0/1:13:99	maternal	FRAME_SHIFT(HIGH||-|-244|373|ZP3||CODING|NM_007155.5|7|1),FRAME_SHIFT(HIGH||-|-295|424|ZP3||CODING|NM_001110354.1|6|1)
8	7718227	.	C	CT	0/1:24:99	0/0:26:66	0/1:15:93	0/1:16:99	maternal	FRAME_SHIFT(HIGH||-/T|-92?|108|SPAG11A||CODING|NM_001081552.2|3|1)
8	39872935	rs4503083	T	A	0/1:26:99	0/0:33:99	0/1:39:99	0/1:41:99	maternal	STOP_GAINED(HIGH|NONSENSE|taT/taA|Y359*|420|IDO2||CODING|NM_194294.2|11|1)
9	125391241	rs1476860	G	A	0/1:13:99	0/0:13:36	0/1:12:99	0/1:12:99	maternal	STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R192*|318|OR1B1||CODING|NM_001004450.1|1|1)
9	125391770	rs72541201	C	CA	0/1:31:99	1/1:30:44	0/1:29:99	0/0:31:89	paternal	FRAME_SHIFT(HIGH||-/T|-15?|318|OR1B1||CODING|NM_001004450.1|1|1)
10	27702256	rs112067123	G	GC	0/1:57:99	0/1:41:99	0/1:33:99	0/0:26:69	paternal	FRAME_SHIFT(HIGH||-/G|-308?|767|PTCHD3||CODING|NM_001034842.3|1|1)
10	32740798	.	C	CT	0/1:22:99	0/1:21:99	0/1:12:99	0/0:24:60	paternal	FRAME_SHIFT(HIGH||-/T|-77?|486|CCDC7||CODING|NM_001026383.1|2|1),FRAME_SHIFT(HIGH||-/T|-77?|486|CCDC7||CODING|NM_145023.4|2|1)
10	33136818	.	TAA	T	0/1:43:99	0/0:64:99	0/0:61:99	0/1:53:99	maternal	FRAME_SHIFT(HIGH||-|-492|628|C10orf68||CODING|NM_024688.2|18|1)
10	124214355	rs2736911	C	T	0/1:85:99	0/0:29:78	0/1:16:99	1/1:25:48	maternal	STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R38*|107|ARMS2||CODING|NM_001099667.1|1|1)
11	4389404	rs74427348	AG	A	0/1:38:99	0/0:11:33	0/0:10:30	0/1:19:99	maternal	FRAME_SHIFT(HIGH||-|-41|314|OR52B4||CODING|NM_001005161.3|1|1)
11	4790873	rs34672924	CG	C	0/1:16:99	0/0:32:90	0/0:16:48	0/1:26:99	maternal	FRAME_SHIFT(HIGH||-|-92|312|OR51F1||CODING|NM_001004752.1|1|1)
11	5877979	rs12419602	T	A	0/1:56:99	1/1:45:99	0/1:61:99	0/0:52:99	paternal	STOP_LOST(HIGH|MISSENSE|taA/taT|*318Y|317|OR52E8||CODING|NM_001005168.1|1|1)
11	48266736	rs7120775	C	G	0/1:59:99	0/1:31:99	0/1:33:99	0/0:39:99	paternal	STOP_GAINED(HIGH|NONSENSE|taC/taG|Y27*|303|OR4X2||CODING|NM_001004727.1|1|1)
11	48286231	rs10838851	T	A	0/1:60:99	0/1:38:99	0/1:36:99	0/0:43:99	paternal	STOP_GAINED(HIGH|NONSENSE|taT/taA|Y273*|305|OR4X1||CODING|NM_001004726.1|1|1)
11	61165731	rs11382548	C	CA	0/1:18:99	0/0:14:42	0/1:11:99	1/1:23:69	maternal	DOWNSTREAM(MODIFIER||||462|CPSF7||CODING|NM_001142565.1||1),DOWNSTREAM(MODIFIER||||471|CPSF7||CODING|NM_001136040.2||1),DOWNSTREAM(MODIFIER||||514|CPSF7||CODING|NM_024811.3||1),INTRON(MODIFIER||||145|TMEM216||CODING|NM_001173990.2|4|1),INTRON(MODIFIER||||148|TMEM216||CODING|NM_001173991.2|4|1),INTRON(MODIFIER||||87|TMEM216||CODING|NM_016499.5|4|1),SPLICE_SITE_ACCEPTOR(HIGH||||148|TMEM216||CODING|NM_001173991.2|5|1),SPLICE_SITE_ACCEPTOR(HIGH||||87|TMEM216||CODING|NM_016499.5|5|1)
11	61165741	rs10897158	G	C	0/1:21:99	0/0:13:39	0/1:11:99	1/1:22:66	maternal	DOWNSTREAM(MODIFIER||||462|CPSF7||CODING|NM_001142565.1||1),DOWNSTREAM(MODIFIER||||471|CPSF7||CODING|NM_001136040.2||1),DOWNSTREAM(MODIFIER||||514|CPSF7||CODING|NM_024811.3||1),INTRON(MODIFIER||||145|TMEM216||CODING|NM_001173990.2|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aCg|R147T|148|TMEM216||CODING|NM_001173991.2|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aCg|R86T|87|TMEM216||CODING|NM_016499.5|5|1),SPLICE_SITE_ACCEPTOR(HIGH||||145|TMEM216||CODING|NM_001173990.2|5|1)
11	118949277	rs36008744	C	G	0/1:33:99	0/1:34:99	0/0:40:99	0/0:47:99	paternal	STOP_GAINED(HIGH|NONSENSE|tCa/tGa|S642*|940|VPS11||CODING|NM_021729.4|12|1|WARNING_TRANSCRIPT_INCOMPLETE)
12	51723598	rs60311818	A	AG	0/1:49:99	0/0:28:81	0/0:20:57	0/1:18:99	maternal	FRAME_SHIFT(HIGH||-/C|-210?|258|CELA1||CODING|NM_001971.5|7|1)
12	54734289	rs11170877	A	G	0/1:33:99	0/1:15:99	0/0:20:60	0/0:22:51	paternal	DOWNSTREAM(MODIFIER|||||MIR148B||NON_CODING|NR_029894.1||1),INTRON(MODIFIER||||154|COPZ1||CODING|NM_001271734.1|1|1),INTRON(MODIFIER||||160|COPZ1||CODING|NM_001271735.1|1|1),INTRON(MODIFIER||||177|COPZ1||CODING|NM_016057.2|1|1),INTRON(MODIFIER|||||COPZ1||CODING|NR_073424.1|1|1),START_LOST(HIGH|MISSENSE|Atg/Gtg|M1V|185|COPZ1||CODING|NM_001271736.1|2|1)
12	55820958	rs57387180	CA	C	0/1:14:99	0/1:11:89	0/1:16:43	0/0:21:45	paternal	FRAME_SHIFT(HIGH||-|-308|312|OR6C76||CODING|NM_001005183.1|1|1)
13	31531009	rs12857479	G	A	0/1:25:99	1/1:25:75	0/1:27:99	0/0:30:87	paternal	INTRON(MODIFIER||||289|TEX26||CODING|NM_152325.1|3|1),SPLICE_SITE_ACCEPTOR(HIGH||||289|TEX26||CODING|NM_152325.1|4|1)
14	23371267	.	CA	C	0/1:36:99	0/0:21:62	0/1:32:99	0/1:27:99	maternal	FRAME_SHIFT(HIGH||-|-355|405|RBM23||CODING|NM_001077352.1|10|1),FRAME_SHIFT(HIGH||-|-373|423|RBM23||CODING|NM_018107.4|11|1),FRAME_SHIFT(HIGH||-|-389|439|RBM23||CODING|NM_001077351.1|12|1)
14	23371269	.	GCA	G	0/1:33:99	0/0:20:60	0/1:31:99	0/1:27:99	maternal	FRAME_SHIFT(HIGH||-|-354|405|RBM23||CODING|NM_001077352.1|10|1),FRAME_SHIFT(HIGH||-|-372|423|RBM23||CODING|NM_018107.4|11|1),FRAME_SHIFT(HIGH||-|-388|439|RBM23||CODING|NM_001077351.1|12|1)
14	51378590	rs11356035	CT	C	0/1:72:99	0/0:29:84	0/1:40:99	0/1:31:99	maternal	INTRON(MODIFIER||||813|PYGL||CODING|NM_001163940.1|14|1),INTRON(MODIFIER||||847|PYGL||CODING|NM_002863.4|15|1),SPLICE_SITE_ACCEPTOR(HIGH||||813|PYGL||CODING|NM_001163940.1|15|1),SPLICE_SITE_ACCEPTOR(HIGH||||847|PYGL||CODING|NM_002863.4|16|1)
14	96730313	.	G	A	0/1:32:99	0/0:14:42	0/0:18:54	0/1:18:99	maternal	STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W98*|353|BDKRB1||CODING|NM_000710.3|3|1)
15	31294714	rs3784589	C	A	0/1:59:99	0/1:56:99	0/0:46:99	0/0:60:99	paternal	STOP_GAINED(HIGH|NONSENSE|Gaa/Taa|E1375*|1603|TRPM1||CODING|NM_002420.5|27|1),STOP_GAINED(HIGH|NONSENSE|Gaa/Taa|E1397*|1625|TRPM1||CODING|NM_001252024.1|28|1),STOP_GAINED(HIGH|NONSENSE|Gaa/Taa|E1414*|1642|TRPM1||CODING|NM_001252020.1|27|1)
16	1306559	rs3830782	AG	A	0/1:24:99	0/0:12:36	0/1:22:99	0/1:11:99	maternal	FRAME_SHIFT(HIGH||-|-42|242|TPSD1||CODING|NM_012217.2|2|1)
16	81056441	rs3743503	T	G	0/1:18:99	0/1:47:99	0/0:36:99	0/0:36:99	paternal	INTRON(MODIFIER||||305|CENPN||CODING|NM_001270474.1|6|1),INTRON(MODIFIER||||319|CENPN||CODING|NM_001270473.1|6|1),INTRON(MODIFIER||||339|CENPN||CODING|NM_001100624.2|7|1),INTRON(MODIFIER||||353|CENPN||CODING|NM_001100625.2|7|1),STOP_LOST(HIGH|MISSENSE|Tag/Gag|*205E|204|CENPN||CODING|NM_018455.5|7|1)
17	42979026	rs74349463	T	C	0/1:32:99	0/0:24:72	0/0:13:39	0/1:19:99	maternal	DOWNSTREAM(MODIFIER||||432|GFAP||CODING|NM_002055.4||1),INTRON(MODIFIER||||103|CCDC103||CODING|NM_001258398.1|3|1),INTRON(MODIFIER||||104|CCDC103||CODING|NM_001258399.1|3|1),INTRON(MODIFIER||||242|CCDC103||CODING|NM_001258395.1|3|1),INTRON(MODIFIER||||242|CCDC103||CODING|NM_001258396.1|3|1),INTRON(MODIFIER||||242|CCDC103||CODING|NM_213607.2|3|1),INTRON(MODIFIER||||98|CCDC103||CODING|NM_001258397.1|3|1),SPLICE_SITE_DONOR(HIGH||||103|CCDC103||CODING|NM_001258398.1|3|1),SPLICE_SITE_DONOR(HIGH||||104|CCDC103||CODING|NM_001258399.1|3|1),UPSTREAM(MODIFIER||||937|EFTUD2||CODING|NM_001142605.1||1),UPSTREAM(MODIFIER||||962|EFTUD2||CODING|NM_001258354.1||1),UPSTREAM(MODIFIER||||972|EFTUD2||CODING|NM_001258353.1||1),UPSTREAM(MODIFIER||||972|EFTUD2||CODING|NM_004247.3||1)
17	45468858	rs118004742	T	G	0/1:20:99	0/0:39:99	0/0:44:99	0/1:47:99	maternal	STOP_GAINED(HIGH|NONSENSE|taT/taG|Y450*|784|EFCAB13||CODING|NM_001195192.1|13|1),STOP_GAINED(HIGH|NONSENSE|taT/taG|Y546*|973|EFCAB13||CODING|NM_152347.4|15|1)
17	72588806	rs545652	C	A	0/1:41:99	0/0:18:54	0/0:20:60	0/1:13:99	maternal	STOP_GAINED(HIGH|NONSENSE|tgC/tgA|C207*|243|C17orf77||CODING|NM_152460.2|3|1),UPSTREAM(MODIFIER||||194|CD300LD||CODING|NM_001115152.1||1)
19	6897464	rs330880	C	G	0/1:32:99	1/1:21:63	0/1:30:99	0/0:25:75	paternal	INTRON(MODIFIER||||709|EMR1||CODING|NM_001256255.1|5|1),INTRON(MODIFIER||||745|EMR1||CODING|NM_001256254.1|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agG|S140R|821|EMR1||CODING|NM_001256253.1|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agG|S140R|886|EMR1||CODING|NM_001974.4|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agG|S88R|867|EMR1||CODING|NM_001256252.1|4|1),SPLICE_SITE_DONOR(HIGH||||709|EMR1||CODING|NM_001256255.1|5|1)
19	23844937	.	CA	C	0/1:73:99	0/1:53:99	0/0:68:99	0/0:84:99	paternal	FRAME_SHIFT(HIGH||-|-68|568|ZNF675||CODING|NM_138330.2|3|1)
19	52004791	rs67024588	G	GC	0/1:61:99	0/0:28:72	0/1:30:99	1/1:24:66	maternal	FRAME_SHIFT(HIGH||-/G|-66?|595|SIGLEC12||CODING|NM_053003.2|1|1),UPSTREAM(MODIFIER||||477|SIGLEC12||CODING|NM_033329.1||1)
19	52803669	rs3217319	CTG	C	0/1:63:99	0/0:53:99	0/1:56:99	1/1:65:99	maternal	FRAME_SHIFT(HIGH||-|-2|535|ZNF480||CODING|NM_144684.2|2|1)
19	55019261	rs61737751	C	T	0/1:34:99	0/0:32:96	0/0:31:90	0/1:30:99	maternal	STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R76*|135|LAIR2||CODING|NM_021270.3|3|1),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R76*|152|LAIR2||CODING|NM_002288.4|3|1)
20	31756954	rs17124277	G	A	0/1:102:99	0/1:42:99	0/1:50:99	0/0:48:99	paternal	START_LOST(HIGH|MISSENSE|atG/atA|M1I|249|BPIFA2||CODING|NM_080574.2|2|1)
21	11029596	rs138714104	AC	A	0/1:41:99	0/0:46:50	0/1:40:99	0/1:31:99	maternal	INTRON(MODIFIER||||109|BAGE2||CODING|NM_182482.2|7|1),INTRON(MODIFIER||||109|BAGE3||CODING|NM_182481.1|7|1),INTRON(MODIFIER||||39|BAGE4||CODING|NM_181704.1|6|1),INTRON(MODIFIER|||||BAGE5||NON_CODING|NM_182484.1|6|1),SPLICE_SITE_DONOR(HIGH||||109|BAGE2||CODING|NM_182482.2|7|1),SPLICE_SITE_DONOR(HIGH||||109|BAGE3||CODING|NM_182481.1|7|1)
21	31744127	rs877346	A	T	0/1:27:99	0/1:20:99	0/0:24:72	0/0:26:66	paternal	DOWNSTREAM(MODIFIER|||||MIR4327||NON_CODING|NR_036221.1||1),STOP_GAINED(HIGH|NONSENSE|tgT/tgA|C135*|175|KRTAP13-2||CODING|NM_181621.3|1|1)
22	32875190	rs11107	G	A	0/1:36:99	0/1:33:99	0/1:36:99	0/0:39:99	paternal	NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M115I|522|FBXO7||CODING|NM_012179.3|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M36I|443|FBXO7||CODING|NM_001033024.1|2|1),START_LOST(HIGH|MISSENSE|atG/atA|M1I|408|FBXO7||CODING|NM_001257990.1|2|1)
22	41257834	.	T	TA	0/1:78:99	0/1:74:99	0/1:74:99	0/0:78:99	paternal	FRAME_SHIFT(HIGH||-/T|-55?|309|DNAJB7||CODING|NM_145174.1|1|1),INTRON(MODIFIER||||507|XPNPEP3||CODING|NM_022098.3|1|1),UTR_3_PRIME(MODIFIER||||55|XPNPEP3||CODING|NM_001204827.1|3|1)