R E S U L T S

VARIANT RANKER RESULTS

Chr	Start	End	Ref	Alt	Func_refGene	Gene_refGene	GeneDetail_refGene	ExonicFunc_refGene	Func_ensGene	Gene_ensGene	GeneDetail_ensGene	ExonicFunc_ensGene	phastConsElements46way	gwasCatalog	cytoband	tfbsConsSites	wgEncodeRegTfbsClustered	wgEncodeRegDnaseClustered	evofold	snp138	1000g2014sep_all	1000g2014sep_eur	1000g2014sep_eas	1000g2014sep_amr	1000g2014sep_afr	1000g2014sep_sas	ExAC	popfreq_max	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	CADD_raw	CADD_phred	GERP_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	cadd	caddgt10	avsift	esp6500_ea	esp6500_aa	cosmic67	cg69	clinvar_20140929	rank_score
16	72050942	72050942	G	A	exonic	DHODH	NA	nonsynonymous SNV	exonic	ENSG00000102967	NA	nonsynonymous SNV	Score=505;Name=lod=150	NA	16q22.2	NA	NA	NA	NA	rs267606766	NA	NA	NA	NA	NA	NA	0.00009937	0.0001	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.64	H	-4.22	D	1.059	D	0.976	D	1.93	12.41	5.82	2.757	9.135	19.089	1.929849	1.929849	0	0.00012	0	NA	NA	CLINSIG=pathogenic;CLNDBN=Miller_syndrome;CLNREVSTAT=single;CLNACC=RCV000018294.26;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C0265257:263750:ORPHA246:66038001	21.333114
6	35259091	35259091	G	T	exonic	ZNF76	NA	nonsynonymous SNV	exonic	ENSG00000065029	NA	nonsynonymous SNV	Score=637;Name=lod=517	NA	6p21.31	Score=878;Name=V$AREB6_01	NA	Name=5	NA	NA	NA	NA	NA	NA	NA	NA	0.0000286	NA	0	D	1.0	D	0.992	D	0.001	D	1.000	D	2.51	M	1.9	T	-0.866	T	0.151	T	5.209	33	5.11	2.816	9.601	18.069	5.208544	5.208544	0	NA	NA	NA	NA	NA	20.3333048
7	33061694	33061694	T	G	exonic	NT5C3A	NA	nonsynonymous SNV	exonic	ENSG00000122643	NA	nonsynonymous SNV	Score=575;Name=lod=289	NA	7p14.3	Score=798;Name=V$COMP1_01	NA	NA	NA	rs144452782	0.000599042	0.003	NA	NA	NA	NA	0.001	0.0019	0.16	T	0.999	D	0.989	D	0.000	D	1.000	D	2.14	M	-1.9	D	0.474	D	0.725	D	4.197	21.8	5.4	2.058	4.731	15.418	4.196983	4.196983	0.09	0.001862	0.000683	NA	NA	NA	20.3274714
6	33281504	33281504	C	A	exonic	TAPBP	NA	nonsynonymous SNV	exonic	ENSG00000231925	NA	nonsynonymous SNV	Score=321;Name=lod=27	NA	6p21.32	NA	Name=EBF,BAF155,TBP,EBF1_(C-8),CEBPB,Pol2	Name=111	NA	rs45583737	0.00339457	0.0089	NA	0.0029	0.0008	0.0051	0.0051	0.0076	0	D	1.0	D	0.996	D	0.000	D	0.996	D	2.28	M	1.14	T	-0.631	T	0.222	T	1.795	11.96	4.15	2.300	1.961	12.127	1.795345	1.795345	0	0.007572	0.001365	NA	NA	NA	19.3117614
5	140209597	140209597	G	T	exonic	PCDHA6	NA	nonsynonymous SNV	exonic	ENSG00000081842	NA	nonsynonymous SNV	Score=259;Name=lod=15	NA	5q31.3	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.00002487	NA	0	D	1.0	D	0.99	D	0.002	U	1.000	D	3.355	M	0.69	T	0.010	D	0.385	T	1.802	11.98	3.98	2.216	5.619	16.652	1.801839	1.801839	0	NA	NA	NA	NA	NA	18.3333085
16	16208928	16208928	G	A	exonic	ABCC1	NA	nonsynonymous SNV	exonic	ENSG00000103222	NA	nonsynonymous SNV	Score=497;Name=lod=139	NA	16p13.11	NA	NA	NA	NA	rs74985930	0.000399361	0.001	NA	NA	NA	0.001	0.0015	0.0017	0.35	T	1.0	D	0.997	D	0.000	D	1.000	D	0.105	N	-2.67	D	0.355	D	0.686	D	3.406	17.5	5.18	2.417	7.992	17.686	3.40567	3.40567	0.12	0.001299	0	ID=COSM702670;OCCURENCE=1(lung)	NA	NA	18.3295344
7	103969537	103969537	G	T	exonic	LHFPL3	NA	nonsynonymous SNV	exonic	ENSG00000187416	NA	nonsynonymous SNV	Score=831;Name=lod=3182	NA	7q22.2	NA	NA	Name=3	NA	rs190167677	0.000599042	0.002	NA	0.0014	NA	NA	0.0009	0.0028	0.46	T	0.991	D	0.962	D	0.020	N	1.000	D	2.62	M	-0.69	T	0.125	D	0.629	D	4.5	24.2	5.06	2.339	9.490	18.455	4.499961	4.499961	0.21	0.000949	0	NA	NA	NA	18.3294844
2	179643775	179643775	C	T	exonic	TTN	NA	nonsynonymous SNV	exonic	ENSG00000155657	NA	nonsynonymous SNV	Score=638;Name=lod=524	NA	2q31.2	Score=855;Name=V$ZID_01	NA	NA	NA	rs36021856	0.00379393	0.0159	NA	0.0043	NA	NA	0.0099	0.02	0	D	1.0	D	1.0	D	.	.	1.000	D	2.38	M	-0.24	T	-0.120	T	0.356	T	3.312	17.13	5.72	2.711	7.781	19.895	3.311645	3.311645	0.03	0.007326	0.000681	NA	NA	CLINSIG=probable-non-pathogenic\|non-pathogenic;CLNDBN=not_specified\|not_provided;CLNREVSTAT=single\|single;CLNACC=RCV000040288.1\|RCV000126011.1;CLNDSDB=.\|.;CLNDSDBID=.\|.	18.3002074
16	72055110	72055110	G	C	exonic	DHODH	NA	nonsynonymous SNV	exonic	ENSG00000102967	NA	nonsynonymous SNV	Score=449;Name=lod=89	NA	16q22.2	NA	Name=CTCF,GABP,Rad21	Name=4	NA	rs267606767	NA	NA	NA	NA	NA	NA	NA	NA	0.46	T	0.158	B	0.12	B	0.000	D	1.000	D	0.255	N	-2.08	D	-0.390	T	0.436	T	2.111	13.01	5.23	2.596	9.697	19.193	2.110802	2.110802	0.16	NA	NA	NA	NA	CLINSIG=pathogenic;CLNDBN=Miller_syndrome,Miller_syndrome;CLNREVSTAT=single,single;CLNACC=RCV000018296.26,RCV000018295.26;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT,MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C0265257:263750:ORPHA246:66038001,C0265257:263750:ORPHA246:66038001	17.3333334
2	179597590	179597590	T	C	exonic	TTN	NA	nonsynonymous SNV	exonic	ENSG00000155657	NA	nonsynonymous SNV	Score=463;Name=lod=102	NA	2q31.2	Score=777;Name=V$HEN1_01	NA	NA	NA	rs190636272	0.000199681	0.001	NA	NA	NA	NA	0.0008	0.0013	0	D	0.98	D	0.819	P	.	.	1.000	D	0.3	N	-0.26	T	-0.428	T	0.279	T	2.052	12.82	6.17	2.371	6.036	16.822	2.051998	2.051998	NA	0.000964	0.000254	NA	NA	CLINSIG=unknown;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039885.1;CLNDSDB=.;CLNDSDBID=.	16.8305694
6	35258481	35258481	G	T	exonic	ZNF76	NA	nonsynonymous SNV	exonic	ENSG00000065029	NA	nonsynonymous SNV	Score=589;Name=lod=329	NA	6p21.31	Score=960;Name=V$CEBP_01	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.000008238	NA	0.4	T	0.956	P	0.622	P	0.000	D	0.962	D	1.01	L	1.28	T	-1.145	T	0.056	T	3.213	16.76	5.36	2.797	5.944	13.575	3.212611	3.212611	0.18	NA	NA	NA	NA	NA	16.3333252
5	140209598	140209598	A	T	exonic	PCDHA6	NA	nonsynonymous SNV	exonic	ENSG00000081842	NA	nonsynonymous SNV	Score=259;Name=lod=15	NA	5q31.3	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.00002487	NA	0	D	0.998	D	0.96	D	0.002	U	1.000	D	2.035	M	0.74	T	-0.681	T	0.236	T	1.748	11.8	2.8	0.692	8.187	9.474	1.747703	1.747703	0	NA	NA	NA	NA	NA	16.3333085
9	94486381	94486381	G	A	exonic	ROR2	NA	nonsynonymous SNV	exonic	ENSG00000169071	NA	nonsynonymous SNV	Score=563;Name=lod=260	NA	9q22.31	Score=824;Name=V$CEBP_C	NA	NA	NA	rs141235720	0.000399361	0.001	NA	NA	0.0008	NA	0.0021	0.0034	0.33	T	1.0	D	0.996	D	0.001	D	1.000	D	0.805	L	-1.13	T	-0.210	T	0.474	T	2.77	15.22	4.65	2.415	4.347	17.751	2.770186	2.770186	0.19	0.003372	0.000908	ID=COSM48755;OCCURENCE=1(lung),1(large_intestine)	NA	NA	16.3268614
9	134308126	134308126	G	A	exonic	PRRC2B	NA	nonsynonymous SNV	exonic	ENSG00000130723	NA	nonsynonymous SNV	Score=720;Name=lod=1122	NA	9q34.13	NA	NA	NA	NA	rs41302675	0.00139776	0.003	NA	0.0043	NA	0.001	0.0038	0.004	0.02	D	0.997	D	0.992	D	0.002	U	1.000	D	2.7	M	1.08	T	-0.418	T	0.323	T	5.537	35	6.03	2.861	9.476	19.545	5.537088	5.537088	0	0.002959	0.001207	NA	NA	NA	16.3235744
5	140362125	140362125	C	G	exonic	PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2	NA	nonsynonymous SNV	exonic	ENSG00000081842,ENSG00000204961,ENSG00000204962,ENSG00000204963,ENSG00000204965,ENSG00000204967,ENSG00000204969,ENSG00000204970,ENSG00000239389,ENSG00000243232,ENSG00000248383,ENSG00000249158,ENSG00000250120,ENSG00000251664,ENSG00000255408	NA	nonsynonymous SNV	Score=608;Name=lod=396	NA	5q31.3	NA	Name=Pbx3,PU.1,POU2F2,Oct-2	NA	NA	rs79247475	0.00159744	0.005	NA	NA	NA	0.0031	0.0055	0.011	0.08	T	1.0	D	0.998	D	0.001	D	1.000	D	1.845	L	0.78	T	-0.605	T	0.247	T	4.546	24.6	5.9	2.802	4.950	17.179	4.545576	4.545576	0	0.004302	0.000454	NA	0.007	NA	16.3185314
20	51871502	51871502	G	A	exonic	TSHZ2	NA	nonsynonymous SNV	exonic	ENSG00000182463	NA	nonsynonymous SNV	Score=488;Name=lod=128	NA	20q13.2	NA	NA	NA	NA	rs45479792	0.00299521	0.008	NA	0.0072	0.0008	0.001	0.0066	0.01	0.11	T	0.994	D	0.97	D	0.000	D	1.000	D	2.31	M	1.6	T	-0.800	T	0.148	T	3.908	19.87	4.98	1.482	7.604	17.083	3.907598	3.907598	0.02	0.007558	0.002043	NA	NA	NA	16.3111754
6	38810663	38810663	A	C	exonic	DNAH8	NA	nonsynonymous SNV	exonic	ENSG00000124721	NA	nonsynonymous SNV	Score=593;Name=lod=343	NA	6p21.2	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.04	D	0.1	B	0.279	B	0.001	D	0.995	N	3.18	M	0.05	T	-0.656	T	0.242	T	1.998	12.64	5.12	2.047	6.176	9.721	1.998387	1.998387	0.02	NA	NA	NA	NA	NA	15.3333334
14	64610629	64610629	G	A	exonic	SYNE2	NA	nonsynonymous SNV	exonic	ENSG00000054654	NA	nonsynonymous SNV	Score=561;Name=lod=253	NA	14q23.2	NA	NA	NA	NA	rs142206385	0.000399361	NA	0.001	NA	0.0008	NA	0.0002	0.002	0.03	D	0.763	P	0.143	B	0.013	N	1.000	D	2.395	M	1.31	T	-0.906	T	0.120	T	2.792	15.3	4.44	1.240	3.926	7.484	2.791982	2.791982	0	0.000349	0	NA	NA	NA	14.8327844
1	235324212	235324212	G	A	exonic	RBM34	NA	nonsynonymous SNV	exonic	ENSG00000188739	NA	nonsynonymous SNV	NA	NA	1q42.3	NA	Name=Pol2,Sin3Ak-20,CHD2_(N-1250)	Name=115	NA	rs184349413	0.00179712	0.001	NA	0.0086	0.0015	NA	0.0004	0.01	0.2	T	0.969	D	0.691	P	0.001	N	0.687	N	2.215	M	2.35	T	-1.091	T	0.057	T	3.959	20.3	3.17	1.287	2.429	8.907	3.959016	3.959016	0.01	0.000364	0.000785	NA	NA	NA	14.8315694
19	35790493	35790493	C	T	exonic	MAG	NA	nonsynonymous SNV	exonic	ENSG00000105695	NA	nonsynonymous SNV	Score=501;Name=lod=145	NA	19q13.12	NA	NA	NA	NA	rs144553163	0.00239617	0.005	NA	0.0014	0.0008	0.0051	0.0044	0.01	1	T	0.98	D	0.79	P	0.000	D	0.919	D	1.245	L	-1.0	T	-0.510	T	0.274	T	3.859	19.6	4.57	2.361	1.742	14.866	3.858571	3.858571	0.03	0.004302	0.002497	NA	NA	NA	14.8196314
20	51870120	51870120	A	T	exonic	TSHZ2	NA	nonsynonymous SNV	exonic	ENSG00000182463	NA	nonsynonymous SNV	NA	NA	20q13.2	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.00001662	NA	0.04	D	0.001	B	0.001	B	0.000	D	0.998	N	1.61	L	2.49	T	-1.088	T	0.026	T	0.315	5.706	-6.08	-1.856	-1.194	11.778	0.314831	NA	0.02	NA	NA	NA	NA	NA	13.3333168
17	10547753	10547753	G	A	exonic	MYH3	NA	nonsynonymous SNV	exonic	ENSG00000109063	NA	nonsynonymous SNV	Score=521;Name=lod=174	NA	17p13.1	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.00003295	NA	0.27	T	0.003	B	0.008	B	.	.	0.646	N	0.91	L	-2.28	D	-0.326	T	0.453	T	1.496	10.95	4.5	2.496	3.328	11.758	1.495821	1.495821	NA	NA	NA	NA	NA	NA	13.3333004
X	2833643	2833643	C	A	exonic	ARSD	NA	nonsynonymous SNV	exonic	ENSG00000006756	NA	nonsynonymous SNV	NA	NA	Xp22.33	NA	NA	Name=4	NA	rs115332247	NA	NA	NA	NA	NA	NA	0.0001	NA	0.06	T	0.005	B	0.02	B	0.914	N	1.000	P	1.39	L	-3.26	D	-0.434	T	0.591	D	0.787	8.15	-6.79	-1.408	-2.691	2.444	0.787191	NA	0.06	NA	NA	ID=COSM1467377;OCCURENCE=1(large_intestine)	NA	NA	13.3332334
14	64604650	64604650	A	G	exonic	SYNE2	NA	nonsynonymous SNV	exonic	ENSG00000054654	NA	nonsynonymous SNV	Score=444;Name=lod=85	NA	14q23.2	NA	Name=SMC3_(ab9263),CTCF_(SC-5916),Rad21,CTCF,CTCF_(C-20)	Name=50	NA	rs147640636	NA	NA	NA	NA	NA	NA	0.0007	0.0014	0.41	T	0.282	B	0.159	B	0.006	N	1.000	D	1.295	L	1.36	T	-1.101	T	0.068	T	2.214	13.36	2.12	0.117	2.659	9.838	2.214493	2.214493	0.12	0.001395	0.000227	NA	NA	NA	13.3312384
16	10775932	10775932	A	G	exonic	TEKT5	NA	nonsynonymous SNV	exonic	ENSG00000153060	NA	nonsynonymous SNV	Score=300;Name=lod=22	NA	16p13.13	NA	Name=HNF4A_(H-171),HNF4G_(SC-6558)	NA	NA	rs138988373	0.00219649	0.006	NA	0.0058	NA	0.001	0.0025	0.004	0.53	T	0.0	B	0.0	B	0.038	N	0.931	D	-1.28	N	4.43	T	-0.868	T	0.003	T	-0.58	1.395	3.88	1.889	1.120	5.513	-0.579606	NA	0.41	0.003372	0.000683	NA	NA	NA	13.3214614
16	10788200	10788200	C	G	exonic	TEKT5	NA	nonsynonymous SNV	exonic	ENSG00000153060	NA	nonsynonymous SNV	Score=429;Name=lod=74	NA	16p13.13	NA	NA	NA	NA	rs148185751	0.00259585	0.006	NA	0.0058	0.0015	0.001	0.0027	0.004	0.02	D	0.319	B	0.364	B	0.003	N	0.997	D	2.81	M	3.97	T	-1.173	T	0.028	T	1.905	12.33	4.68	1.368	0.283	8.029	1.905042	1.905042	0.01	0.003372	0.001138	NA	NA	NA	13.3212614
2	179393691	179393691	G	A	exonic	TTN	NA	nonsynonymous SNV	exonic	ENSG00000155657	NA	nonsynonymous SNV	Score=510;Name=lod=157	NA	2q31.2	NA	NA	NA	NA	rs55842557	0.00379393	0.0159	NA	0.0043	NA	NA	0.0098	0.02	0	D	0.257	B	0.068	B	.	.	1.000	N	0.695	N	0.25	T	-0.944	T	0.084	T	2.625	14.74	4.74	2.677	3.452	13.248	2.624609	2.624609	NA	0.006818	0.000793	NA	NA	CLINSIG=probable-non-pathogenic\|non-pathogenic;CLNDBN=not_specified\|not_provided;CLNREVSTAT=single\|single;CLNACC=RCV000040981.1\|RCV000126004.1;CLNDSDB=.\|.;CLNDSDBID=.\|.	13.3008154
1	235324219	235324219	G	A	exonic	RBM34	NA	nonsynonymous SNV	exonic	ENSG00000188739	NA	nonsynonymous SNV	NA	NA	1q42.3	NA	Name=Sin3Ak-20,CHD2_(N-1250),Pol2	Name=115	NA	rs181926176	0.00179712	0.001	NA	0.0086	0.0015	NA	0.0004	0.01	0.38	T	0.64	P	0.146	B	0.001	N	0.988	D	2.255	M	2.08	T	-1.084	T	0.030	T	3.302	17.1	0.896	0.273	1.087	6.016	3.301935	3.301935	0.02	0.000364	0.000779	NA	NA	NA	12.8315694
22	46932032	46932032	T	A	exonic	CELSR1	NA	nonsynonymous SNV	exonic	ENSG00000075275	NA	nonsynonymous SNV	Score=498;Name=lod=141	NA	22q13.31	NA	NA	NA	NA	rs142090496	0.000798722	0.002	NA	0.0014	NA	0.001	0.0011	0.0028	0.06	T	0.972	D	0.694	P	0.000	U	0.868	N	1.785	L	4.66	T	-1.100	T	0.013	T	3.017	16.06	4.21	1.553	4.777	12.956	3.016895	3.016895	0.12	0.002674	0.000454	NA	NA	NA	12.8275594
22	46804943	46804943	T	C	exonic	CELSR1	NA	nonsynonymous SNV	exonic	ENSG00000075275	NA	nonsynonymous SNV	Score=235;Name=lod=12	NA	22q13.31	NA	NA	NA	NA	rs201049711	NA	NA	NA	NA	NA	NA	0.00004212	NA	1	T	0.0	B	0.0	B	0.001	N	1.000	D	-2.12	N	-0.08	T	-0.939	T	0.044	T	-1.033	0.216	2.45	0.355	1.784	11.220	-1.032644	NA	1	NA	NA	NA	NA	NA	11.3332913
8	24774812	24774812	G	A	exonic	NEFM	NA	nonsynonymous SNV	exonic	ENSG00000104722	NA	nonsynonymous SNV	NA	NA	8p21.2	NA	NA	NA	NA	rs61751047	0.000998403	0.001	NA	NA	0.003	NA	0.0006	0.0034	0.29	T	0.002	B	0.001	B	0.075	N	1.000	N	2.35	M	-1.61	D	-0.171	T	0.702	D	-0.907	0.424	1.68	0.499	1.785	6.416	-0.906998	NA	0.05	0.000465	0.003404	ID=COSM454338;OCCURENCE=1(breast)	NA	NA	11.3312684
2	220097286	220097286	G	A	exonic	ANKZF1	NA	nonsynonymous SNV	exonic	ENSG00000163516	NA	nonsynonymous SNV	NA	NA	2q35	NA	NA	NA	NA	rs200506719	0.00199681	0.004	NA	NA	NA	0.0061	0.0066	0.011	0.79	T	0.176	B	0.037	B	0.120	N	1.000	N	2.125	M	1.76	T	-1.009	T	0.042	T	1.857	12.17	4.66	1.576	2.407	10.022	1.856758	1.856758	0.04	0.006072	0.002347	NA	0.007	NA	11.3166614
2	182783550	182783550	A	G	exonic	SSFA2	NA	synonymous SNV	exonic	ENSG00000138434	NA	synonymous SNV	Score=625;Name=lod=462	NA	2q31.3	NA	Name=MafK_(ab50322)	NA	NA	rs78894663	0.00579073	0.001	NA	0.0029	0.0197	NA	0.0025	0.027	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.998	T	0.087	T	1.205	9.892	2.52	0.205	0.624	9.081	1.204576	NA	NA	0.000116	0.026782	NA	NA	NA	10.6630506
12	123187313	123187313	C	G	exonic	HCAR2	NA	nonsynonymous SNV	exonic	ENSG00000182782	NA	nonsynonymous SNV	NA	NA	12q24.31	Score=815;Name=V$CDPCR3_01	NA	NA	NA	rs144376493	0.00119808	0.005	NA	0.0014	NA	NA	0.0018	NA	0.3	T	0.008	B	0.016	B	0.324	N	1.000	N	1.15	L	1.06	T	-1.047	T	0.078	T	-0.45	1.915	-9.83	-2.003	-0.136	14.223	-0.449758	NA	0.61	NA	NA	NA	NA	NA	10.3265334
12	123187314	123187314	C	T	exonic	HCAR2	NA	nonsynonymous SNV	exonic	ENSG00000182782	NA	nonsynonymous SNV	NA	NA	12q24.31	Score=815;Name=V$CDPCR3_01	NA	NA	NA	rs141052038	0.00119808	0.005	NA	0.0014	NA	NA	0.0019	NA	0.26	T	0.005	B	0.004	B	0.324	N	1.000	N	0.645	N	1.07	T	-1.063	T	0.047	T	-0.363	2.29	-10.5	-2.694	-1.276	1.363	-0.362698	NA	0.6	NA	NA	NA	NA	NA	10.3264334
2	220099713	220099713	C	T	exonic	ANKZF1	NA	nonsynonymous SNV	exonic	ENSG00000163516	NA	nonsynonymous SNV	NA	NA	2q35	NA	NA	NA	NA	rs140395841	0.00199681	0.004	NA	NA	NA	0.0061	0.0066	0.011	0.21	T	0.048	B	0.01	B	0.106	N	1.000	N	1.87	L	1.9	T	-1.087	T	0.050	T	-0.372	2.247	5.2	2.705	1.800	15.585	-0.372488	NA	0.1	0.005978	0.002217	NA	0.007	NA	10.3167554
17	10551919	10551919	G	C	exonic	MYH3	NA	synonymous SNV	exonic	ENSG00000109063	NA	synonymous SNV	Score=488;Name=lod=128	NA	17p13.1	Score=987;Name=V$IK2_01	Name=CTCF	Name=4	NA	rs147148934	0.00319489	0.003	NA	0.0072	0.0008	0.0072	0.0048	0.01	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.531339	NA	NA	0.004767	0.00227	NA	NA	NA	9.6540996
14	51226983	51226983	G	A	exonic	NIN	NA	nonsynonymous SNV	exonic	ENSG00000100503	NA	nonsynonymous SNV	NA	NA	14q22.1	NA	Name=YY1	Name=3	NA	rs147946706	NA	NA	NA	NA	NA	NA	0.0003	0.0001	0.32	T	0.002	B	0.009	B	0.980	N	1.000	N	0.4	N	3.51	T	-0.949	T	0.021	T	1.095	9.467	1.72	0.284	0.443	6.837	1.094578	NA	0.16	0.000116	0	NA	NA	NA	9.3329174
19	55087468	55087468	G	A	exonic	LILRA2	NA	nonsynonymous SNV	exonic	ENSG00000239998	NA	nonsynonymous SNV	NA	NA	19q13.42	NA	NA	NA	NA	rs151154459	0.000399361	0.001	NA	0.0014	NA	NA	0.0008	0.0013	.	.	0.009	B	0.047	B	0.154	N	1.000	N	-0.07	N	4.4	T	-0.915	T	0.005	T	-1.503	0.017	-3.32	-0.506	-2.363	4.249	-1.502921	NA	1	0.000581	0.000227	NA	NA	NA	9.3309524
9	136340625	136340625	C	T	exonic	SLC2A6	NA	nonsynonymous SNV	exonic	ENSG00000160326	NA	nonsynonymous SNV	Score=426;Name=lod=72	NA	9q34.2	NA	NA	NA	NA	rs147854160	0.000798722	0.003	NA	0.0014	NA	NA	0.0026	0.0051	0.37	T	0.021	B	0.003	B	0.042	N	0.996	N	-0.525	N	-0.84	T	-1.018	T	0.092	T	0.598	7.225	0.644	0.206	1.189	6.988	0.598187	NA	0.8	0.005117	0.00091	NA	NA	NA	9.3226164
8	24771984	24771984	G	T	exonic	NEFM	NA	synonymous SNV	exonic	ENSG00000104722	NA	synonymous SNV	Score=823;Name=lod=2949	NA	8p21.2	Score=855;Name=V$CHOP_01	NA	Name=81	NA	rs61735463	0.00199681	0.001	NA	NA	0.0068	NA	0.0008	0.0066	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.956319	NA	NA	0.000465	0.006582	NA	NA	NA	8.6644016
7	103969525	103969525	C	T	exonic	LHFPL3	NA	synonymous SNV	exonic	ENSG00000187416	NA	synonymous SNV	Score=831;Name=lod=3182	NA	7q22.2	Score=786;Name=V$AHR_01	NA	Name=3	NA	rs185070516	0.000599042	0.002	NA	0.0014	NA	NA	0.0009	0.0028	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.996819	NA	NA	0.000952	0	NA	NA	NA	8.6628146
6	33281505	33281505	C	A	exonic	TAPBP	NA	synonymous SNV	exonic	ENSG00000231925	NA	synonymous SNV	NA	NA	6p21.32	Score=829;Name=V$EGR1_01	Name=TBP,CEBPB,EBF1_(C-8),BAF155,EBF,Pol2	Name=111	NA	rs45501592	0.00339457	0.0089	NA	0.0029	0.0008	0.0051	0.0051	0.0076	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	-0.104785	NA	NA	0.007572	0.001366	NA	NA	NA	8.6450946
2	182766624	182766624	C	A	exonic	SSFA2	NA	nonsynonymous SNV	exonic	ENSG00000138434	NA	nonsynonymous SNV	NA	NA	2q31.3	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.69	T	0.0	B	0.001	B	0.415	N	0.960	N	0.345	N	2.76	T	-0.976	T	0.017	T	-0.083	3.594	1.56	0.080	0.228	0.793	-0.08308	NA	0.29	NA	NA	NA	NA	NA	8.3333334
9	2039575	2039575	C	T	exonic	SMARCA2	NA	synonymous SNV	exonic	ENSG00000080503	NA	synonymous SNV	Score=460;Name=lod=99	NA	9p24.3	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1.494421	1.494421	NA	NA	NA	NA	NA	NA	7.6666666
3	48699636	48699636	C	T	exonic	CELSR3	NA	synonymous SNV	exonic	ENSG00000008300	NA	synonymous SNV	NA	NA	3p21.31	NA	Name=NRSF	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.00006836	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.179707	NA	NA	NA	NA	NA	NA	NA	7.6665982
X	2835964	2835964	G	A	exonic	ARSD	NA	synonymous SNV	exonic	ENSG00000006756	NA	synonymous SNV	NA	NA	Xp22.33	NA	Name=YY1,HMGN3,CCNT2	Name=5	NA	rs73632972	NA	NA	NA	NA	NA	NA	0.0045	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	-1.118953	NA	NA	NA	NA	NA	NA	NA	7.6621666
16	16208714	16208714	G	A	exonic	ABCC1	NA	synonymous SNV	exonic	ENSG00000103222	NA	synonymous SNV	Score=412;Name=lod=63	NA	16p13.11	Score=760;Name=V$PAX6_01	NA	NA	NA	rs191017838	0.000798722	0.003	NA	0.0014	NA	NA	0.0034	0.0077	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.003538	NA	NA	0.007705	0.001157	NA	NA	NA	7.6525616
3	48694471	48694471	C	T	exonic	CELSR3	NA	synonymous SNV	exonic	ENSG00000008300	NA	synonymous SNV	Score=560;Name=lod=251	NA	3p21.31	NA	NA	Name=7	NA	rs145229058	0.00159744	0.005	NA	0.0043	NA	NA	0.006	0.01	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1.199285	NA	NA	0.008843	0.001136	ID=COSM166490;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	NA	NA	7.6468236
2	179396573	179396573	T	G	exonic	TTN	NA	synonymous SNV	exonic	ENSG00000155657	NA	synonymous SNV	Score=619;Name=lod=436	NA	2q31.2	NA	NA	NA	NA	rs56375087	0.00379393	0.0159	NA	0.0043	NA	NA	0.01	0.02	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.469225	NA	NA	0.006771	0.000517	NA	NA	CLINSIG=non-pathogenic\|non-pathogenic;CLNDBN=not_specified\|not_provided;CLNREVSTAT=single\|single;CLNACC=RCV000040946.1\|RCV000125986.1;CLNDSDB=.\|.;CLNDSDBID=.\|.	7.6339956
19	55087463	55087463	G	C	exonic	LILRA2	NA	nonsynonymous SNV	exonic	ENSG00000239998	NA	nonsynonymous SNV	NA	NA	19q13.42	NA	NA	NA	NA	rs140640200	0.00519169	0.001	0.001	0.0014	NA	0.0235	0.001	0.004	.	.	0.0	B	0.001	B	0.101	N	1.000	N	-3.575	N	4.11	T	-0.843	T	0.001	T	-1.247	0.052	-0.756	0.048	-0.372	2.962	-1.246702	NA	0.53	0.000581	0.000227	NA	NA	NA	7.3307524
9	2077644	2077644	C	T	exonic	SMARCA2	NA	synonymous SNV	exonic	ENSG00000080503	NA	synonymous SNV	Score=547;Name=lod=223	NA	9p24.3	NA	NA	NA	NA	rs149890563	0.000199681	NA	NA	NA	0.0008	NA	0.00001648	0.002	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.595623	NA	NA	NA	NA	NA	NA	NA	6.6666501
19	35786682	35786682	G	A	exonic	MAG	NA	synonymous SNV	exonic	ENSG00000105695	NA	synonymous SNV	NA	NA	19q13.12	Score=867;Name=V$SPZ1_01	NA	NA	NA	rs199750254	0.000199681	NA	NA	NA	NA	0.001	0.00002476	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	-0.174811	NA	NA	NA	NA	ID=COSM994929,COSM994928;OCCURENCE=1(large_intestine),1(endometrium)	NA	NA	6.6666418
6	38690855	38690855	G	C	exonic	DNAH8	NA	synonymous SNV	exonic	ENSG00000124721	NA	synonymous SNV	NA	NA	6p21.2	NA	Name=Pol2-4H8,Pol2(b)	NA	NA	rs180723141	0.00139776	0.003	NA	0.0043	NA	0.001	0.0026	0.01	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.669405	NA	NA	0.002762	0.000571	NA	NA	NA	6.6583046
9	94519645	94519645	G	A	exonic	ROR2	NA	synonymous SNV	exonic	ENSG00000169071	NA	synonymous SNV	Score=444;Name=lod=85	NA	9q22.31	NA	NA	NA	NA	rs145568368	0.000798722	0.003	NA	NA	0.0008	NA	0.0027	0.0047	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.837016	NA	NA	0.004651	0.001362	NA	NA	NA	6.6563156
9	134349958	134349958	A	C	exonic	PRRC2B	NA	synonymous SNV	exonic	ENSG00000130723	NA	synonymous SNV	Score=659;Name=lod=637	NA	9q34.13	NA	NA	NA	NA	rs200268888	0.00159744	0.004	NA	0.0058	NA	NA	0.0035	0.0057	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.644339	NA	NA	0.005711	0.001595	NA	NA	NA	6.6534556
7	33055315	33055315	C	T	exonic	NT5C3A	NA	synonymous SNV	exonic	ENSG00000122643	NA	synonymous SNV	Score=622;Name=lod=451	NA	7p14.3	NA	NA	NA	NA	rs72555746	0.00938498	0.004	0.002	0.0029	NA	0.0399	0.0076	0.022	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.69355	NA	NA	0.004302	0.000908	NA	0.014	NA	6.6507646
14	51259463	51259463	C	T	exonic	NIN	NA	synonymous SNV	exonic	ENSG00000100503	NA	synonymous SNV	NA	NA	14q22.1	NA	NA	NA	NA	rs146441468	NA	NA	NA	NA	NA	NA	0.0002	0.0001	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1.168968	NA	NA	0.000116	0	ID=COSM1370038,COSM1370040,COSM1370039;OCCURENCE=1(large_intestine)	NA	NA	5.6663506
9	136337164	136337164	C	G	exonic	SLC2A6	NA	synonymous SNV	exonic	ENSG00000160326	NA	synonymous SNV	NA	NA	9q34.2	NA	NA	NA	NA	rs142001028	0.000798722	0.003	NA	0.0014	NA	NA	0.0025	0.0053	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	-1.425845	NA	NA	0.005349	0.001135	NA	NA	NA	5.6558176