Split (1)

train · 12.8k rows

Chrom stringclasses 24 values	Position int64 47.3k 249M	Ref Base stringclasses 17 values	Alt Base stringclasses 20 values	Gene stringlengths 2 15	Sequence Ontology stringclasses 5 values	Exon Number float64 1 347 ⌀	cDNA change stringlengths 6 92	Protein Change stringlengths 9 13 ⌀	End Position int64 47.3k 249M	Tags stringlengths 6 16	1000 Genomes AF float64 0 1	1000 Genomes AFR AF float64 0 1	1000 Genomes AMR AF float64 0 1	1000 Genomes EAS AF float64 0 1	1000 Genomes EUR AF float64 0 1	1000 Genomes SAS AF float64 0 1	CADD Exome Score float64 -4.09 13.2	CADD Exome Phred float64 0 63	ESP6500 European American AF float64 0 1	ESP6500 African American AF float64 0 1	ExAC Gene and CNV pLI float64 0 1 ⌀	ExAC Gene and CNV pLI (Hom) float64 0 1 ⌀	ExAC Gene and CNV pLT float64 0 1 ⌀	ExAC Gene and CNV pLI NonTCGA float64 0 1 ⌀	ExAC Gene and CNV pLI (Hom) NonTCGA float64 0 1 ⌀	ExAC Gene and CNV pLT NonTCGA float64 0 1 ⌀	ExAC Gene and CNV pLI Nonpsych float64 0 1 ⌀	ExAC Gene and CNV pLI (Hom) Nonpsych float64 0 1 ⌀	ExAC Gene and CNV pLT Nonpsych float64 0 1 ⌀	ExAC Gene and CNV Del Int Z-Score float64 -2.62 3.81 ⌀	ExAC Gene and CNV Dup Int Z-Score float64 -2.53 2.74 ⌀	ExAC Gene and CNV CNV Int Z-Score float64 -2.47 3.02 ⌀	ExAC Gene and CNV CNV Bias/Noise stringclasses 2 values	Extra VCF INFO Annotations VCF Ref Allele stringclasses 23 values	Extra VCF INFO Annotations VCF Alt Allele stringclasses 25 values	Flanking Sequence Ref Sequence stringlengths 11 11	Flanking Sequence Alt Sequence stringlengths 11 11	GERP++ Neutral Rate float64 0 6.17	GERP++ RS Score float64 -12.3 6.17	GERP++ RS Ranked Score float64 0 1 ⌀	Grantham Scores Score int64 0 215	PhyloP Vert Score float64 -20 10	PhyloP Vert Ranked Score float64 0 1 ⌀	PhyloP Mamm Score float64 -20 11.9	PhyloP Mamm Ranked Score float64 0 1 ⌀	PhyloP Primate Score float64 -8.41 0.76 ⌀	PhyloP Primate Ranked Score float64 0 0.94 ⌀	PolyPhen-2 HDIV Prediction stringclasses 3 values	PolyPhen-2 HVAR Prediction stringclasses 3 values	PolyPhen-2 HDIV Rank Score float64 0 0.91	PolyPhen-2 HVAR Rank Score float64 0 0.97 ⌀	REVEL Score float64 0 1	REVEL Rank Score float64 0 1 ⌀	SIFT Prediction stringclasses 2 values	SIFT Confidence stringclasses 2 values	SIFT Score float64 0 1	SIFT Rank Score float64 0 1 ⌀	SIFT Median Info float64 2 4.32 ⌀	SIFT Seqs at Position float64 2 399 ⌀	SiPhy Stationary Distribution stringlengths 15 27 ⌀	SiPhy Score float64 0 27.7	SiPhy Rank Score float64 0 1 ⌀	Pathologic/Benign stringclasses 2 values	Flanking Sequence 5aa stringlengths 6 11 ⌀	Ref_AA stringclasses 21 values	Alt_AA stringclasses 21 values	Physico Change stringclasses 17 values	Source_Genome stringclasses 2 values
chr1	160,124,405	G	A	ATP1A2	missense_variant	6	c.605G>A	p.Arg202Gln	160,124,405	rs2524857474	0	0	0	0	0	0	4.619383	32	0	0	0.60022	0.39978	0	0.721883	0.278116	0	0.99644	0.00356	0	1.329642	1.159509	1.465517	N	G	A	CCTCCGGATCA	CCTCCAGATCA	5.11	5.11	0.69066	43	10.003	0.99689	11.812	0.96965	0.676	0.7674	D	D	0.90584	0.97372	0.886	0.96688	Damaging	High	0.001	0.999001	2.31	200	0.0;0.0;1.0;0.0	17.3108	0.87037	Pathogenic	VPADLRIISSH	Arg	Gln	Basic to Polar	hg38
chr3	172,764,395	G	A	ECT2	missense_variant	12	c.1186G>A	p.Val396Met	172,764,395	AlleleID_3667375	0	0	0	0	0	0	-0.356276	0.237	0	0	0.000026	0.999942	0.000033	0.001141	0.998842	0.000017	0.000166	0.999767	0.000067	-2.44347	-0.552806	-1.199018	Y	G	A	CAGACGTGTCA	CAGACATGTCA	5.58	-11.2	0.00099	21	-0.068	0.11519	-1.318	0.0573	-1.094	0.01527	B	B	0.14184	0.087	0.037	0.09474	Tolerated	High	0.185	0.815185	2.75	36	0.2658;0.2944;0.0544;0.3854	3.484	0.07122	Benign	SRETDVSPFPP	Val	Met	Nonpolar to Nonpolar	hg38
chr8	143,727,366	C	T	FAM83H	missense_variant	5	c.2095G>A	p.Ala699Thr	143,727,366	rs2538660040	0	0	0	0	0	0	-0.333865	0.264	0	0	0.884825	0.115121	0.000054	0.83361	0.166246	0.000144	0.962433	0.037548	0.000019	0.274246	0.214426	0.348561	N	C	T	CGCAGCCCCGG	CGCAGTCCCGG	3.59	-1.91	0.07184	58	0	null	0	null	null	null	B	B	0.02946	0.01387	0.007	0.00512	Tolerated	High	1	0.000999	2.67	24	0.0;0.5112;0.1573;0.3315	5.0647	0.13819	Benign	EGAAGAAAATE	Ala	Thr	Nonpolar to Polar	hg19
chr7	94,420,242	G	T	COL1A2	missense_variant	35	c.2089G>T	p.Gly697Trp	94,420,242	AlleleID_4188065	0	0	0	0	0	0	4.52359	32	0	0	0.999755	0.000245	0	0.999728	0.000272	0	0.999908	0.000092	0	-0.85644	-0.537773	-0.576131	N	G	T	AAGCTGGGGCT	AAGCTTGGGCT	5.84	5.84	0.93351	184	9.013	0.93153	11.86	0.98299	0.676	0.7674	D	D	0.90584	0.97372	0.973	0.99718	Damaging	High	0	1	2.62	143	0.0;0.0;1.0;0.0	20.5276	0.99231	Pathogenic	DRGEAGAAGPA	Gly	Trp	Nonpolar to Nonpolar	hg19
chr22	50,627,671	C	G	ARSA	missense_variant	1	c.109G>C	p.Asp37His	50,627,671	rs2146728318	0	0	0	0	0	0	4.089754	27.7	0	0	0	0.291196	0.708804	0	0.339475	0.660524	0.000018	0.653234	0.346748	-0.174966	-0.483637	-0.418878	N	C	G	CAGGTCCCCAT	CAGGTGCCCAT	5.27	4.18	0.48304	81	3.913	0.56106	7.605	0.61698	0.58	0.29708	null	null	0.60381	null	0.893	0.96947	Damaging	High	0	1	2.69	33	0.0;0.8367;0.1633;0.0	13.0362	0.58107	Pathogenic	IEQRSLKWIFV	Asp	His	Acidic to Basic	hg38
chr3	193,667,278	T	C	OPA1	missense_variant	29	c.2981T>C	p.Leu994Pro	193,667,278	AlleleID_3408850	0	0	0	0	0	0	4.230491	28.9	0	0	0.994351	0.005649	0	0.999073	0.000927	0	0.993032	0.006968	0	0.831778	0.552234	0.754457	N	T	C	AGACCTCAGTG	AGACCCCAGTG	5.99	5.99	0.97288	98	7.988	0.87839	7.889	0.72943	0.665	0.62972	D	D	0.90584	0.88582	0.902	0.97286	Damaging	Low	0	1	4.32	14	0.0;0.0;0.0;1.0	15.6754	0.7697	Pathogenic	null	Leu	Pro	Nonpolar to Nonpolar	hg19
chr19	1,796,779	C	T	ATP8B3	missense_variant	16	c.1685G>A	p.Arg562Gln	1,796,779	AlleleID_4295820	0	0	0	0	0	0	-0.05002	1.053	0.000119	0	0	0.003624	0.996376	0	0.007793	0.992207	0	0.020046	0.979954	-2.623544	-0.481002	-1.511703	N	C	T	ACTCCCGCACG	ACTCCTGCACG	3.63	-2.17	0.06627	43	-1.323	0.028	-5.273	0.01781	-0.195	0.09104	P	B	0.54515	0.43478	0.051	0.14325	Tolerated	High	0.404	0.596404	2.64	118	0.1693;0.3632;0.0;0.4675	3.7958	0.08194	Benign	GDEAVREFWRL	Arg	Gln	Basic to Polar	hg19
chr4	87,845,721	T	C	MEPE	missense_variant	4	c.853T>C	p.Phe285Leu	87,845,721	rs138823925	0	0	0	0	0	0	-0.375024	0.217	0	0.000227	0.362908	0.625108	0.011985	0.705437	0.291028	0.003536	0.316864	0.662665	0.020471	-2.285862	0.300873	-0.937863	N	T	C	CAGGGTTTGCA	CAGGGCTTGCA	4.7	-4.28	0.03455	22	-0.556	0.06082	0.171	0.15519	-0.203	0.08628	B	B	0.07471	0.087	0.005	0.00259	Tolerated	High	0.954	0.046953	2.85	30	0.0;0.3526;0.4777;0.1697	7.3303	0.2559	Benign	DIQTGFAGPSE	Phe	Leu	Nonpolar to Nonpolar	hg19
chr5	90,829,181	A	G	ADGRV1	missense_variant	77	c.16606A>G	p.Thr5536Ala	90,829,181	rs759179560	0	0	0	0	0	0	2.736649	22.9	0	0	0	1	0	0	1	0	0	1	0	-0.511124	0.371628	0.085399	N	A	G	TTAGTACCCAG	TTAGTGCCCAG	5.81	5.81	0.92386	58	7.436	0.7957	11.192	0.88702	0.756	0.94297	B	B	0.36091	0.31615	0.235	0.53788	Damaging	Low	0.027	0.973027	3.74	12	1.0;0.0;0.0;0.0	16.167	0.81499	Benign	SVNFSTQELRS	Thr	Ala	Polar to Nonpolar	hg19
chr17	43,093,997	G	A	BRCA1	missense_variant	10	c.1534C>T	p.Leu512Phe	43,093,997	rs41286294	0	0	0	0	0	0	3.5093	24.7	0	0	0	0.106035	0.893965	0	0.987832	0.012168	0	0.039737	0.960263	-1.804717	0.372233	-0.541889	N	G	A	ATGAAGGCCTG	ATGAAAGCCTG	4.62	4.62	0.56785	22	3.457	0.52771	8.375	0.77055	0.676	0.7674	D	D	0.90584	0.88582	0.716	0.89922	Damaging	High	0.006	0.994006	2.54	207	0.0881;0.0;0.9119;0.0	10.7544	0.45236	Benign	RPTSGLHPEDF	Leu	Phe	Nonpolar to Nonpolar	hg38
chr11	118,495,863	C	T	KMT2A	missense_variant	19	c.5527C>T	p.Pro1843Ser	118,495,863	rs782527592	0	0	0	0	0	0	1.992284	19.2	0	0	1	0	0	1	0	0	1	0	0	1.466909	-2.531252	-2.471628	N	C	T	CAACTCCTCTG	CAACTTCTCTG	5.37	5.37	0.7686	74	3.501	0.53085	4.906	0.45906	0.549	0.26987	D	D	0.90584	0.68276	0.326	0.64826	Tolerated	High	0.21	0.79021	2.69	28	0.0;1.0;0.0;0.0	19.4584	0.94874	Benign	PTPLHPPTPPI	Pro	Ser	Nonpolar to Polar	hg19
chr8	123,105,295	C	T	TBC1D31	missense_variant	8	c.1040C>T	p.Pro347Leu	123,105,295	AlleleID_3916715	0	0	0	0	0	0	1.711307	17.1	0	0	0	0.999365	0.000635	0	0.998154	0.001846	0	0.996565	0.003435	1.127238	0.954502	1.250904	N	C	T	ACCTCCGCCTT	ACCTCTGCCTT	4.8	3.93	0.44495	98	3.626	0.53985	4.884	0.45695	-0.172	0.11096	P	B	0.47859	0.36766	0.17	0.43303	Damaging	Low	0.005	0.995005	3.36	22	0.0;0.9163;0.0;0.0837	11.8533	0.51515	Benign	INKPPPPLVKV	Pro	Leu	Nonpolar to Nonpolar	hg38
chr17	43,071,110	C	G	BRCA1	missense_variant	15	c.4804G>C	p.Val1602Leu	43,071,110	AlleleID_3640008	0	0	0	0	0	0	-0.607868	0.07	0	0	0	0.106035	0.893965	0	0.987832	0.012168	0	0.039737	0.960263	-1.804717	0.372233	-0.541889	N	C	G	GGGAACTTTCA	GGGAAGTTTCA	4.78	1.11	0.19548	32	0.145	0.15978	0.549	0.19403	-0.136	0.1271	B	B	0.02946	0.01387	0.522	0.79704	Tolerated	High	0.477	0.523477	2.88	26	0.4691;0.36;0.0;0.171	5.3564	0.15261	Benign	TSALKVPQLKV	Val	Leu	Nonpolar to Nonpolar	hg19
chr12	102,859,379	G	A	PAH	intron_variant	null	c.510-4047C>T	null	102,859,379	rs4646988	0.282947	0.292738	0.321326	0.053571	0.427435	0.330266	0	0	0	0	0	0.307449	0.692551	0	0.449969	0.550031	0	0.35993	0.64007	0.848617	1.120173	1.303993	N	G	A	TAGCCGAATTC	TAGCCAAATTC	0	0	null	0	0	null	0	null	null	null	B	B	0	0	0	0	Tolerated	null	1	0	null	null	null	0	null	Benign	null	-	-	No_Change	hg19
chrX	68,647,907	T	G	STARD8	missense_variant	1	c.25T>G	p.Ser9Ala	68,647,907	AlleleID_3618426	0	0	0	0	0	0	1.311073	14.47	0	0	0.035831	0.962572	0.001597	0.739406	0.26049	0.000103	0.020149	0.975254	0.004596	null	null	null	null	T	G	TCTGGTCTTGC	TCTGGGCTTGC	4.06	1.05	0.19194	99	0.518	0.22554	1.014	0.23354	-0.323	0.05837	B	B	0.02946	0.01387	0.105	0.29889	Tolerated	Low	0.179	0.821179	3.38	6	0.0;0.0;0.463;0.537	9.5548	0.38307	Benign	NNCASMKLEVH	Ser	Ala	Polar to Nonpolar	hg19
chr1	11,129,790	A	G	MTOR	missense_variant	40	c.5662T>C	p.Phe1888Leu	11,129,790	rs2100423871	0	0	0	0	0	0	4.4034	31	0	0	1	0	0	null	null	null	1	0	0	1.501993	1.798902	1.892141	N	A	G	GAAGAAGCCCT	GAAGAGGCCCT	5.79	5.79	0.91721	22	8.908	0.92231	11.163	0.87713	0.756	0.94297	D	D	0.90584	0.92359	0.888	0.96762	Damaging	High	0	1	2.64	71	1.0;0.0;0.0;0.0	16.1354	0.81208	Pathogenic	PAVQGFFRSIS	Phe	Leu	Nonpolar to Nonpolar	hg19
chr15	63,061,764	G	T	TPM1	missense_variant	6	c.615G>T	p.Lys205Asn	63,061,764	AlleleID_4011158	0	0	0	0	0	0	2.50753	22.4	0	0	0.79947	0.200289	0.000241	0.731779	0.267667	0.000554	0.723202	0.276056	0.000742	0.755936	0.695444	0.911578	N	G	T	TTGAAGTCACT	TTGAATTCACT	6.17	5.26	0.73376	94	6.952	0.7579	6.703	0.56377	0.676	0.7674	D	D	0.77913	0.8317	0.858	0.95655	Damaging	High	0.001	0.999001	2.05	309	0.1423;0.0;0.8577;0.0	10.8036	0.45516	Pathogenic	VTNNLKSLEAQ	Lys	Asn	Basic to Polar	hg38
chr2	215,376,548	G	A	FN1	missense_variant	36	c.5837C>T	p.Thr1946Ile	215,376,548	rs145621410	0.000399	0	0	0.001984	0	0	1.80481	17.77	0.000116	0	0.064442	0.935558	0	0.086219	0.913781	0	0.184188	0.815812	0	0.846928	1.028008	1.068277	N	G	A	TTGGAGTCTGG	TTGGAATCTGG	5.91	0.688	0.17116	89	0.987	0.29203	1.002	0.23268	0.676	0.7674	P	B	0.45231	0.43683	0.101	0.28911	Tolerated	High	0.213	0.787213	3.06	46	0.0;0.2757;0.2052;0.5191	9.8748	0.40175	Benign	PANGQTPIQRT	Thr	Ile	Polar to Nonpolar	hg19
chr5	177,592,260	A	G	TMED9	missense_variant	1	c.46A>G	p.Thr16Ala	177,592,260	rs1224571209	0	0	0	0	0	0	0.210297	3.242	0	0	0.159568	0.824926	0.015507	0.126211	0.850448	0.023341	0.126466	0.845497	0.028037	0.757109	0.112678	0.386068	N	A	G	CCGGAACCGGG	CCGGAGCCGGG	4.84	-3.3	0.04664	58	0.046	0.13919	0.127	0.14995	-0.822	0.02949	B	B	0.02946	0.01387	0	0.00003	Tolerated	Low	0.662	0.338661	3.33	20	0.1073;0.2568;0.1508;0.4851	2.4452	0.04195	Benign	RPRPGTGLGRV	Thr	Ala	Polar to Nonpolar	hg38
chr17	4,903,038	A	G	CHRNE	missense_variant	1	c.26T>C	p.Leu9Pro	4,903,038	AlleleID_4012672	0	0	0	0	0	0	3.656441	25.2	0	0	0.000348	0.988686	0.010967	0.001036	0.987709	0.011255	0.004935	0.987832	0.007234	0.665329	-1.208973	-0.7111	Y	A	G	GGAGCAGGACC	GGAGCGGGACC	4.89	4.89	0.63246	98	4.604	0.60818	7.692	0.65839	0.756	0.94297	D	D	0.7322	0.8111	0.702	0.89284	Damaging	High	0.011	0.989011	2.84	42	1.0;0.0;0.0;0.0	10.8321	0.45681	Pathogenic	APLGVLLLLGL	Leu	Pro	Nonpolar to Nonpolar	hg38
chrX	71,241,327	G	A	ZMYM3	missense_variant	24	c.3820C>T	p.Arg1274Trp	71,241,327	AlleleID_3499987	0	0	0	0	0	0	3.87384	26.2	0	0	0.999967	0.000033	0	0.999913	0.000087	0	0.999911	0.000089	0	null	null	null	null	G	A	CTTCCGTTTTC	CTTCCATTTTC	4.81	4.81	0.61252	101	1.606	0.36437	5.076	0.47223	0.676	0.7674	D	D	0.90584	0.76916	0.252	0.56159	Damaging	High	0	1	2.7	50	0.0;0.0;0.8459;0.1541	13.7094	0.61977	Pathogenic	TGPGKRKREDE	Arg	Trp	Basic to Nonpolar	hg19
chr8	96,233,191	T	A	UQCRB	missense_variant	2	c.56A>T	p.Lys19Ile	96,233,191	rs863224257	0	0	0	0	0	0	4.157435	28.3	0	0	0.20696	0.751061	0.041978	0.179764	0.766366	0.05387	0.182569	0.755295	0.062136	0.082791	-1.259837	-0.935382	N	T	A	ACCATTTTCGA	ACCATATTCGA	4.78	4.78	0.60516	102	7.225	0.77534	7.905	0.73745	0.665	0.62972	P	D	0.50421	0.66466	0.435	0.74022	Damaging	Low	0.009	0.991009	3.43	48	0.0;0.0;0.0;1.0	13.0389	0.58121	Pathogenic	LDGIRKWYYNA	Lys	Ile	Basic to Nonpolar	hg38
chr11	64,805,078	A	T	MEN1	missense_variant	9	c.1306T>A	p.Trp436Arg	64,805,078	rs104894259	0	0	0	0	0	0	4.198842	28.6	0	0	0.99919	0.00081	0	0.998564	0.001436	0	0.998448	0.001552	0	0.684644	0.29957	0.549814	N	A	T	GGCCCAGCCCA	GGCCCTGCCCA	4.01	4.01	0.4565	101	6.14	0.71491	11.069	0.85557	0.756	0.94297	D	D	0.90584	0.97372	0.934	0.98489	Damaging	High	0.003	0.997003	2.79	33	1.0;0.0;0.0;0.0	11.2692	0.48174	Pathogenic	VLHVGWATFLV	Trp	Arg	Nonpolar to Basic	hg38
chr9	126,693,250	G	A	LMX1B	missense_variant	4	c.668G>A	p.Arg223Gln	126,693,250	rs121909491	0	0	0	0	0	0	4.646546	32	0	0	0.822732	0.177096	0.000171	0.758679	0.240914	0.000407	0.75338	0.246091	0.000529	0.38604	0.078888	0.261401	N	G	A	ACCCCGGACCA	ACCCCAGACCA	4.97	4.97	0.65285	43	9.533	0.97129	11.762	0.95653	0.671	0.69459	D	D	0.90584	0.92359	0.984	0.99918	Damaging	High	0	1	2.66	52	0.0;0.0;1.0;0.0	17.2153	0.86762	Pathogenic	RPKRPRTILTT	Arg	Gln	Basic to Polar	hg38
chr13	110,176,505	C	T	COL4A1	missense_variant	36	c.2977G>A	p.Gly993Ser	110,176,505	rs2139162416	0	0	0	0	0	0	3.942923	26.6	0	0	1	0	0	1	0	0	1	0	0	-2.623544	-2.194783	-2.471628	N	C	T	ATCACCTTTAG	ATCACTTTTAG	5.97	5.97	0.96923	56	6.942	0.75737	7.554	0.60334	0.599	0.4025	D	D	0.90584	0.97372	0.884	0.96614	Damaging	High	0.006	0.994006	2.54	67	0.0;1.0;0.0;0.0	20.4239	0.99063	Pathogenic	QPGPKGDPGIS	Gly	Ser	Nonpolar to Polar	hg38
chr17	50,197,975	C	G	COL1A1	missense_variant	8	c.616G>C	p.Gly206Arg	50,197,975	AlleleID_4919349	0	0	0	0	0	0	4.046917	27.3	0	0	1	0	0	1	0	0	1	0	0	1.789716	0.49038	0.984402	N	C	G	CTCACCAGGGG	CTCACGAGGGG	4.42	4.42	0.52608	125	7.703	0.83561	7.71	0.66754	0.599	0.4025	null	null	0.60381	null	0.989	0.99969	Damaging	High	0.001	0.999001	2.55	136	0.0;1.0;0.0;0.0	16.3265	0.82738	Pathogenic	FQGPPGEPGEP	Gly	Arg	Nonpolar to Basic	hg19
chr1	100,122,396	C	T	SASS6	missense_variant	4	c.295G>A	p.Ala99Thr	100,122,396	AlleleID_3483676	0	0	0	0	0	0	1.154618	13.27	0	0	0.00005	0.998442	0.001509	0.000117	0.997685	0.002198	0.000511	0.997896	0.001593	1.132092	-1.22937	-0.581828	N	C	T	TTTGGCATGTT	TTTGGTATGTT	5.92	2.04	0.25666	58	0.594	0.23715	-0.354	0.09723	-0.202	0.08738	B	B	0.02946	0.04355	0.033	0.08068	Tolerated	High	0.545	0.455544	2.93	22	0.0;0.5092;0.0;0.4908	8.6651	0.33095	Benign	CTQEHAKEIPR	Ala	Thr	Nonpolar to Polar	hg38
chrX	77,508,401	G	T	ATRX	missense_variant	35	c.7429C>A	p.Pro2477Thr	77,508,401	rs1557034699	0	0	0	0	0	0	3.181458	23.8	0	0	1	0	0	1	0	0	1	0	0	null	null	null	null	G	T	TGGGGGTGGTG	TGGGGTTGGTG	4.86	4.86	0.62479	38	3.169	0.50509	11.695	0.94414	0.654	0.53741	null	null	0.60381	null	0.311	0.63269	Tolerated	Low	0.178	0.822178	3.55	12	0.0;0.1553;0.8447;0.0	13.2138	0.59099	Benign	LQRAPPPMRSK	Pro	Thr	Nonpolar to Polar	hg19
chr13	32,337,317	G	A	BRCA2	missense_variant	11	c.2962G>A	p.Asp988Asn	32,337,317	rs1593898237	0	0	0	0	0	0	1.490995	15.68	0	0	0	0.999975	0.000025	0	0.999999	0.000001	0	0.999886	0.000114	-0.587781	1.061048	0.429504	N	G	A	ATAATGATTAC	ATAATAATTAC	5.65	1.86	0.2437	23	0.515	0.22507	1.417	0.26331	0.656	0.54149	null	null	0.60381	null	0.066	0.19193	Tolerated	High	0.286	0.714286	2.61	24	0.2913;0.0;0.4322;0.2765	3.7331	0.07967	Benign	PEKNNDYMNKW	Asp	Asn	Acidic to Polar	hg19
chr5	132,385,355	G	T	SLC22A5	missense_variant	4	c.680G>T	p.Arg227Leu	132,385,355	rs185551386	0	0	0	0	0	0	4.619266	32	0	0	0	0.369125	0.630875	0.000001	0.733301	0.266698	0	0.482063	0.517936	0.450834	0.871832	0.809048	N	G	T	AGTTCGTATAA	AGTTCTTATAA	5.9	5.9	0.94934	65	9.392	0.96616	11.75	0.95386	0.676	0.7674	D	D	0.90584	0.86255	0.828	0.94541	Damaging	High	0	1	2.28	56	0.0;0.0;1.0;0.0	20.2789	0.98498	Pathogenic	LGKSVRIIFST	Arg	Leu	Basic to Nonpolar	hg19
chr3	108,455,752	C	T	MYH15	missense_variant	20	c.2246G>A	p.Arg749Gln	108,455,752	AlleleID_4033860	0	0	0	0	0	0	0.406521	5.499	0	0	0	0.000159	0.999841	0	0.000298	0.999702	0	0.010237	0.989763	0.411456	1.229191	1.006999	N	C	T	CAAATCGGTAC	CAAATTGGTAC	6.06	-5.93	0.02056	43	-0.812	0.04602	-5.251	0.01789	-0.826	0.02916	B	B	0.21998	0.23121	0.181	0.45247	Tolerated	High	0.18	0.82018	2.54	211	0.0;0.763;0.0;0.237	17.2958	0.86997	Benign	DHTQYRFGITK	Arg	Gln	Basic to Polar	hg19
chr11	6,609,601	C	G	ILK	missense_variant	9	c.818C>G	p.Pro273Arg	6,609,601	rs774113906	0	0	0	0	0	0	4.257924	29.2	0	0	0.042196	0.957552	0.000252	0.021825	0.977492	0.000682	0.093402	0.906173	0.000425	0.103697	-0.15544	-0.043028	N	C	G	GATGCCGTATG	GATGCGGTATG	5.54	5.54	0.82841	103	7.21	0.77431	7.661	0.64234	0.599	0.4025	D	D	0.70673	0.6472	0.85	0.9536	Damaging	High	0.008	0.992008	2.89	99	0.0;1.0;0.0;0.0	18.6556	0.91372	Benign	ITHWMPYGSLY	Pro	Arg	Nonpolar to Basic	hg38
chr17	8,238,579	C	G	CTC1	missense_variant	3	c.248G>C	p.Ser83Thr	8,238,579	rs78870822	0.003195	0	0.004323	0	0.012922	0	3.517348	24.8	0.009035	0.000971	0	0.999974	0.000026	0	0.999918	0.000081	0	0.999844	0.000155	-0.495848	0.793841	0.309321	N	C	G	GGTGGCTGCAG	GGTGGGTGCAG	5.94	5.94	0.96151	58	3.39	0.52263	7.57	0.60688	0.599	0.4025	D	D	0.77913	0.84481	0.533	0.80367	Damaging	Low	0	1	3.67	14	0.0;1.0;0.0;0.0	15.8634	0.78728	Benign	RLPCCSHLSWS	Ser	Thr	Polar to Polar	hg19
chr22	32,084,539	C	G	SLC5A1	missense_variant	8	c.765C>G	p.Cys255Trp	32,084,539	rs888909415	0	0	0	0	0	0	2.707708	22.8	0	0	0.008031	0.991367	0.000602	0.100063	0.899628	0.000309	0.088113	0.911418	0.000469	-0.340351	-0.516108	-0.39724	Y	C	G	AAATGCTACAC	AAATGGTACAC	5.06	4.02	0.45797	215	0.159	0.16258	0.107	0.14728	0.549	0.26987	D	D	0.90584	0.92359	0.751	0.91456	Damaging	High	0	1	2.51	197	0.0;0.8369;0.0;0.1631	9.6432	0.38827	Pathogenic	TFQEKCYTPRA	Cys	Trp	Nonpolar to Nonpolar	hg38
chr6	30,722,996	G	T	TUBB	missense_variant	3	c.245G>T	p.Gly82Val	30,722,996	AlleleID_3733143	0	0	0	0	0	0	4.399403	31	0	0	0.875277	0.124396	0.000328	0.84008	0.159286	0.000634	0.96499	0.034932	0.000078	-1.715067	-1.922319	-1.914402	N	G	T	TTTTGGCCAGA	TTTTGTCCAGA	5.03	5.03	0.66886	109	0	null	0	null	null	null	D	D	0.55278	0.75168	0.788	0.92988	Damaging	High	0.001	0.999001	3.03	341	0.0;0.0;1.0;0.0	15.8464	0.78577	Pathogenic	RSGPFGQIFRP	Gly	Val	Nonpolar to Nonpolar	hg38
chr20	3,691,534	C	T	SIGLEC1	missense_variant	18	c.4397G>A	p.Arg1466His	3,691,534	AlleleID_4067549	0	0	0	0	0	0	-1.153662	0.003	0	0	0	0.000268	0.999732	0	0.000386	0.999614	0	0.000096	0.999904	0.237665	-0.550962	-0.32491	N	C	T	GGAGGCGGCAG	GGAGGTGGCAG	4.92	-9.84	0.00398	29	-3.871	0.00389	-5.91	0.01556	-0.193	0.09282	B	B	0.07471	0.06944	0.195	0.47612	Tolerated	Low	0.313	0.687313	3.6	13	0.2599;0.2532;0.0873;0.3995	1.4453	0.02199	Benign	LNLSCRLLGGP	Arg	His	Basic to Basic	hg19
chr4	125,452,415	C	T	FAT4	missense_variant	10	c.11405C>T	p.Ser3802Phe	125,452,415	rs75380987	0.019569	0.003026	0.024496	0	0.04672	0.030675	3.576962	25	0.042442	0.009759	1	0	0	1	0	0	1	0	0	0.500852	0.423586	0.538537	N	C	T	GGAATCTGTGG	GGAATTTGTGG	5.66	4.76	0.60037	155	5.802	0.68783	5.724	0.49486	0.524	0.24156	P	P	0.51395	0.5302	0.244	0.55061	Damaging	Low	0.002	0.998002	4.32	20	0.1398;0.8602;0.0;0.0	15.3995	0.74437	Benign	KVESVDHDSCV	Ser	Phe	Polar to Nonpolar	hg38
chr5	168,753,076	C	T	SLIT3	missense_variant	18	c.1852G>A	p.Gly618Ser	168,753,076	rs10036727	0.570887	0.704992	0.507205	0.525794	0.525845	0.527607	2.089412	19.94	0.512907	0.694281	0.991788	0.008212	0	0.998044	0.001956	0	0.996811	0.003189	0	1.866809	-0.715335	-0.00058	Y	C	T	ACAGCCGATCA	ACAGCTGATCA	5.34	5.34	0.75888	56	6.28	0.72654	5.111	0.47513	-0.108	0.15293	B	B	0.02946	0.04355	0.14	0.37593	Tolerated	High	1	0.000999	2.98	53	0.0;0.0718;0.0;0.9282	11.2503	0.48065	Benign	RSNLIGCVSND	Gly	Ser	Nonpolar to Polar	hg19
chr2	165,992,136	G	C	SCN1A	missense_variant	29	c.5139C>G	p.Ser1713Arg	165,992,136	AlleleID_3540124	0	0	0	0	0	0	3.492556	24.7	0	0	1	0	0	1	0	0	1	0	0	-1.810908	0.043446	-0.670523	N	G	C	ATCATGCTGTT	ATCATCCTGTT	5.8	5.8	0.92053	110	6.695	0.74418	5.001	0.46597	-0.182	0.10109	D	D	0.90584	0.92359	0.934	0.98489	Damaging	High	0	1	2.33	287	0.0;0.0;1.0;0.0	20.0589	0.97658	Pathogenic	ETFGNSMICLF	Ser	Arg	Polar to Basic	hg38
chrX	153,729,296	T	C	ABCD1	missense_variant	2	c.965T>C	p.Leu322Pro	153,729,296	rs2148391974	0	0	0	0	0	0	3.182907	23.8	0	0	0.982119	0.017869	0.000012	0.974166	0.025804	0.00003	0.97529	0.024677	0.000033	null	null	null	null	T	C	CCTTCTGGAAC	CCTTCCGGAAC	5.44	5.44	0.7927	98	0	null	0	null	null	null	P	P	0.44016	0.51118	0.742	0.91069	Tolerated	High	0.286	0.714286	2.63	88	0.0;0.0;0.0;1.0	13.443	0.60409	Pathogenic	INLILLERLWY	Leu	Pro	Nonpolar to Nonpolar	hg19
chr7	141,725,033	G	A	WEE2	missense_variant	9	c.1229G>A	p.Arg410Gln	141,725,033	AlleleID_3630175	0	0	0	0	0	0	0.07053	1.84	0	0	0.000968	0.986625	0.012407	0.015648	0.978895	0.005457	0.00276	0.980867	0.016373	0.147877	0.956069	0.744778	N	G	A	TTACCGGCACC	TTACCAGCACC	5.63	-3.84	0.03952	43	0	null	0	null	null	null	B	B	0.16867	0.17295	0.083	0.24192	Tolerated	High	0.504	0.496503	2.67	46	0.0842;0.0;0.8258;0.09	15.2585	0.73183	Benign	LQEDYRHLPKA	Arg	Gln	Basic to Polar	hg19
chr7	152,180,994	C	T	KMT2C	missense_variant	36	c.6866G>A	p.Arg2289His	152,180,994	rs202108375	0.0002	0.000756	0	0	0	0	0.597342	7.487	0	0	1	0	0	1	0	0	1	0	0	null	null	null	null	C	T	AAACACGGCTA	AAACATGGCTA	5.09	-0.876	0.10037	29	1.195	0.31795	-0.938	0.06858	-0.176	0.10722	B	B	0.07471	0.01387	0.142	0.37995	null	null	0.015	null	null	null	0.0;0.2196;0.0;0.7804	9.7695	0.39557	Benign	SDTFSRVSPSA	Arg	His	Basic to Basic	hg19
chr1	216,418,675	C	A	USH2A	missense_variant	3	c.490G>T	p.Val164Phe	216,418,675	rs527236123	0	0	0	0	0	0	2.421965	22.2	0	0	0	0.999989	0.000011	0	0.999992	0.000008	0	0.999999	0.000001	-2.22771	-0.343251	-0.833268	N	C	A	TATAACACACC	TATAAAACACC	5.62	1.71	0.23316	50	0.333	0.19512	-1.727	0.04838	0.599	0.4025	D	P	0.62325	0.62825	0.271	0.58633	Damaging	Low	0	1	3.77	12	0.0;0.7357;0.0;0.2643	10.4073	0.43265	Pathogenic	QGVMCVIEKTV	Val	Phe	Nonpolar to Nonpolar	hg19
chr12	6,333,376	G	A	TNFRSF1A	missense_variant	4	c.463C>T	p.His155Tyr	6,333,376	rs886039866	0	0	0	0	0	0	-1.304719	0.001	0	0	0.985476	0.014517	0.000007	0.979683	0.020301	0.000017	0.978963	0.021015	0.000022	0.424397	-0.175719	0.067261	N	G	A	GAGGTGCACGG	GAGGTACACGG	5.12	-4.8	0.02941	83	-1.802	0.01837	-0.024	0.12886	-0.965	0.01965	B	B	0.33644	0.30104	0.527	0.80007	Tolerated	Low	0.148	0.852148	3.48	29	0.0;0.1924;0.1571;0.6505	11.1648	0.47574	Pathogenic	LNGTVHLSCQE	His	Tyr	Basic to Nonpolar	hg19
chr12	102,846,935	G	A	PAH	missense_variant	9	c.929C>T	p.Ser310Phe	102,846,935	rs62642913	0	0	0	0	0	0	4.426398	31	0	0	0	0.307449	0.692551	0	0.449969	0.550031	0	0.35993	0.64007	0.848617	1.120173	1.303993	N	G	A	CCAGAGAGGCA	CCAGAAAGGCA	5.38	5.38	0.77191	155	9.598	0.97461	11.788	0.96293	0.671	0.69459	D	D	0.90584	0.97372	0.993	0.9999	Damaging	High	0	1	2.5	185	0.0;0.0;1.0;0.0	19.1358	0.93384	Pathogenic	EIGLASLGAPD	Ser	Phe	Polar to Nonpolar	hg38
chr19	42,290,789	A	G	CIC	missense_variant	11	c.4748A>G	p.Asn1583Ser	42,290,789	rs773111863	0	0	0	0	0	0	2.12695	20.3	0	0	0.999903	0.000097	0	0.999732	0.000268	0	0.999664	0.000336	0	0.95548	0.869794	1.103227	N	A	G	CACCAATGTGG	CACCAGTGTGG	4.89	2.79	0.3165	46	1.969	0.40134	4.175	0.42299	0.691	0.84096	B	B	0.07471	0.087	0.118	0.32913	Tolerated	High	0.311	0.689311	2.75	22	0.8216;0.0;0.1784;0.0	7.7669	0.2798	Benign	ATMVTNVVRPV	Asn	Ser	Polar to Polar	hg19
chr9	128,219,079	G	T	DNM1	missense_variant	4	c.416G>T	p.Gly139Val	128,219,079	AlleleID_3892076	0	0	0	0	0	0	4.467659	32	0	0	0.999864	0.000136	0	0.99993	0.00007	0	0.999541	0.000459	0	0.35752	-0.325424	-0.074835	N	G	T	GCCCGGAATGA	GCCCGTAATGA	5.42	5.42	0.78583	109	10.003	0.99689	11.726	0.94905	0.676	0.7674	D	D	0.90584	0.97372	0.955	0.99221	Damaging	High	0	1	2.58	138	0.0;0.0;1.0;0.0	19.2078	0.93698	Pathogenic	LVDLPGMTKVP	Gly	Val	Nonpolar to Nonpolar	hg38
chr9	131,464,841	A	G	PRRC2B	missense_variant	12	c.1483A>G	p.Ile495Val	131,464,841	AlleleID_3584769	0	0	0	0	0	0	0.865304	10.07	0	0	0.999999	0.000001	0	0.999992	0.000008	0	0.999997	0.000003	0	0.472608	0.370086	0.462517	N	A	G	AGTTCATTCAG	AGTTCGTTCAG	5.61	-1.35	0.08589	29	1.129	0.30994	0.832	0.21958	0.756	0.94297	B	B	0.02946	0.04355	0.049	0.13647	Tolerated	High	0.286	0.714286	2.65	31	0.3162;0.0;0.6838;0.0	10.5411	0.44031	Benign	PRQKFIQSEMS	Ile	Val	Nonpolar to Nonpolar	hg38
chr7	100,812,915	C	A	EPHB4	missense_variant	12	c.1950G>T	p.Lys650Asn	100,812,915	rs1584658113	0	0	0	0	0	0	3.397659	24.4	0	0	0.989869	0.010131	0	null	null	null	0.965696	0.034304	0	-0.000014	0.110337	0.079385	Y	C	A	CCACCCTTCAG	CCACCATTCAG	4.79	1.66	0.2297	94	0.627	0.242	0.366	0.17626	0.596	0.33519	D	D	0.90584	0.92359	0.6	0.84183	Damaging	High	0.001	0.999001	2.5	203	0.0;0.6645;0.0;0.3355	8.2076	0.30448	Pathogenic	AIKTLKGGYTE	Lys	Asn	Basic to Polar	hg38
chr15	42,389,999	T	C	CAPN3	missense_variant	6	c.848T>C	p.Met283Thr	42,389,999	rs1555420765	0	0	0	0	0	0	2.543963	22.5	0	0	0	0.995577	0.004423	0	0.99087	0.00913	0.000052	0.999598	0.00035	0.123677	0.448507	0.386196	N	T	C	GAACATGGGGG	GAACACGGGGG	5.92	5.92	0.95541	81	4.701	0.61496	7.81	0.69404	0.66	0.55035	B	B	0.28827	0.28873	0.537	0.80605	Tolerated	High	0.177	0.823177	3.06	45	0.0;0.0;0.0;1.0	14.1071	0.64475	Pathogenic	PSGLNMGELIA	Met	Thr	Nonpolar to Polar	hg38
chr12	47,985,012	C	G	COL2A1	missense_variant	27	c.1816G>C	p.Gly606Arg	47,985,012	rs886041945	0	0	0	0	0	0	4.205107	28.7	0	0	1	0	0	1	0	0	1	0	0	1.299114	-0.658944	-0.088128	N	C	G	GGGGCCAGGGA	GGGGCGAGGGA	4.88	4.88	0.62989	125	7.905	0.86479	7.668	0.6462	0.599	0.4025	D	D	0.90584	0.97372	0.949	0.99024	Damaging	High	0	1	2.62	149	0.0;1.0;0.0;0.0	16.9705	0.86105	Pathogenic	VMGFPGPKGAN	Gly	Arg	Nonpolar to Basic	hg38
chr5	139,480,849	T	C	STING1	missense_variant	5	c.461A>G	p.Asn154Ser	139,480,849	rs587777609	0	0	0	0	0	0	3.249298	24	0	0	0.032331	0.926468	0.041202	0.11956	0.85489	0.02555	0.118864	0.850083	0.031053	-0.493102	0.85818	0.377911	N	T	C	CCACGTTGAAA	CCACGCTGAAA	4.56	3.4	0.37872	46	2.078	0.41191	2.906	0.35479	0.651	0.53179	D	D	0.90584	0.77976	0.704	0.89376	Damaging	High	0	1	2.91	17	0.0;0.0839;0.0;0.9161	9.6488	0.38858	Pathogenic	EKGNFNVAHGL	Asn	Ser	Polar to Polar	hg38
chr7	117,483,495	G	A	CFTR	intron_variant	null	c.53+3348G>A	null	117,483,495	rs182396914	0.002596	0.009077	0	0	0	0.001022	0	0	0	0	0	0.000005	0.999995	0	0.00012	0.99988	0	0.000012	0.999988	-2.623544	-0.857439	-1.552174	N	G	A	GCCAAGTGCTA	GCCAAATGCTA	0	0	null	0	0	null	0	null	null	null	B	B	0	0	0	0	Tolerated	null	1	0	null	null	null	0	null	Benign	null	-	-	No_Change	hg19
chr19	6,826,619	G	A	VAV1	missense_variant	9	c.835G>A	p.Val279Ile	6,826,619	rs117819421	0.001797	0	0.002882	0	0.006958	0	-1.26516	0.002	0.007757	0.001613	0.999993	0.000007	0	0.999976	0.000024	0	0.999994	0.000006	0	1.327152	-1.905938	-1.133867	N	G	A	TCCTCGTCTAT	TCCTCATCTAT	5.26	-3.81	0.03988	29	-1.636	0.02119	-2.093	0.04223	-0.72	0.03816	B	B	0.02946	0.04355	0.131	0.35738	Tolerated	High	1	0.000999	2.8	59	0.6725;0.0;0.3275;0.0	11.3873	0.48846	Benign	KERFLVYGRYC	Val	Ile	Nonpolar to Nonpolar	hg38
chr6	31,164,645	G	A	POU5F1	missense_variant	5	c.1039C>T	p.Pro347Ser	31,164,645	AlleleID_3901072	0	0	0	0	0	0	-0.844891	0.02	0	0	0.889691	0.110071	0.000238	0.856563	0.142964	0.000474	0.857015	0.142412	0.000573	0.085038	0.557813	0.571258	N	G	A	GACAGGGGGAA	GACAGAGGGAA	5.81	-9.19	0.00583	74	0	null	0	null	null	null	B	B	0.02946	0.01387	0.209	0.49871	Tolerated	High	0.737	0.263736	2.79	33	0.1758;0.2984;0.5258;0.0	11.3903	0.48864	Benign	GEAFPPVSVTT	Pro	Ser	Nonpolar to Polar	hg38
chr11	6,785,843	G	A	OR2AG1	missense_variant	2	c.806G>A	p.Arg269Lys	6,785,843	AlleleID_4668754	0	0	0	0	0	0	-0.091045	0.866	0	0	0.000009	0.097196	0.902795	0.000081	0.179138	0.820781	0.000008	0.084005	0.915988	null	null	null	null	G	A	CACCAGACAAG	CACCAAACAAG	4.39	-0.671	0.10758	26	1.533	0.35645	-0.132	0.11608	-0.76	0.03515	B	B	0.02946	0.04355	0.021	0.04004	Tolerated	High	0.691	0.30969	2.58	273	0.6388;0.0;0.3612;0.0	8.1582	0.30168	Benign	SFHSTRQDNII	Arg	Lys	Basic to Basic	hg19
chr18	57,697,679	G	T	ATP8B1	missense_variant	8	c.637C>A	p.Leu213Ile	57,697,679	AlleleID_4390132	0	0	0	0	0	0	3.927991	26.5	0	0	0	0.999995	0.000005	0.000002	0.999989	0.000009	0.001159	0.99884	0.000001	0.303108	-1.430256	-0.916901	N	G	T	CAGGAGAATGT	CAGGATAATGT	6.04	4.27	0.49839	5	2.479	0.44857	3.704	0.39535	0.676	0.7674	D	P	0.55854	0.56524	0.65	0.86786	Damaging	High	0.006	0.994006	2.52	122	0.2059;0.0;0.7941;0.0	10.9391	0.46284	Pathogenic	VPADILLLSSS	Leu	Ile	Nonpolar to Nonpolar	hg19
chr1	20,648,606	G	A	PINK1	missense_variant	6	c.1225G>A	p.Gly409Arg	20,648,606	AlleleID_4187613	0.0002	0.000756	0	0	0	0	4.410009	31	0	0	0	0.587542	0.412458	0	0.427451	0.572549	0.000008	0.72776	0.272232	-0.08305	-0.416529	-0.323309	N	G	A	GGGGCGGAAAC	GGGGCAGAAAC	6.17	6.17	0.99706	125	7.117	0.76757	11.802	0.96681	0.676	0.7674	D	D	0.90584	0.84481	0.752	0.91498	Damaging	High	0.002	0.998002	2.63	38	0.0;0.0;1.0;0.0	16.3795	0.83203	Pathogenic	YVDRGGNGCLM	Gly	Arg	Nonpolar to Basic	hg38
chrX	71,110,618	C	A	IL2RG	missense_variant	3	c.340G>T	p.Gly114Cys	71,110,618	rs2147750359	0	0	0	0	0	0	3.471085	24.6	0	0	0.957764	0.042134	0.000102	0.944072	0.055723	0.000205	0.94687	0.05291	0.00022	null	null	null	null	C	A	ACAGCCAGAAG	ACAGCAAGAAG	5.42	5.42	0.78583	159	2.628	0.46143	7.597	0.61435	0.599	0.4025	D	D	0.90584	0.97372	0.84	0.94989	Damaging	Low	0	1	3.59	16	0.0;1.0;0.0;0.0	15.0612	0.71498	Pathogenic	EEITSGCQLQK	Gly	Cys	Nonpolar to Nonpolar	hg19
chr7	91,874,042	C	T	MTERF1	missense_variant	3	c.752G>A	p.Arg251Gln	91,874,042	rs78445151	0.002196	0.008321	0	0	0	0	3.083844	23.6	0	0.008625	0.000001	0.317689	0.682311	0.000001	0.232828	0.767172	0.000004	0.355002	0.644994	0.303152	-0.120952	0.098727	N	C	T	TCACCCGCTTG	TCACCTGCTTG	4.94	4.06	0.46402	43	5.013	0.63783	4.478	0.43523	0.549	0.26987	D	P	0.77913	0.51908	0.2	0.4843	Tolerated	Low	0.121	0.879121	3.34	17	0.0;0.8319;0.0;0.1681	10.1799	0.41945	Benign	IQSTKRVKANI	Arg	Gln	Basic to Polar	hg19
chrX	141,241,547	C	T	SPANXC	missense_variant	2	c.264G>A	p.Met88Ile	141,241,547	rs199904329	0	0	0	0	0	0	1.025503	11.94	0	0	0.00059	0.282517	0.716893	0.033142	0.612776	0.354082	0.004784	0.423146	0.57207	null	null	null	null	C	T	ATTTCCATGAA	ATTTCTATGAA	0	0	null	10	0	null	0	null	null	null	P	P	0.41986	0.54437	0.067	0.19503	Tolerated	Low	0.79	0.210789	3.53	9	null	0	null	Benign	EEEEFMEIMVE	Met	Ile	Nonpolar to Nonpolar	hg38
chrX	154,031,364	A	C	MECP2	missense_variant	3	c.500T>G	p.Phe167Cys	154,031,364	rs28934905	0	0	0	0	0	0	4.036723	27.2	0	0	0.698089	0.298098	0.003813	0.646476	0.347357	0.006167	0.662798	0.33075	0.006452	null	null	null	null	A	C	AGTCAAAATCA	AGTCACAATCA	5.24	5.24	0.72756	205	8.817	0.91609	11.055	0.85354	0.735	0.8595	D	D	0.90584	0.92359	0.98	0.99858	Damaging	Low	0.004	0.996004	3.85	20	1.0;0.0;0.0;0.0	13.1253	0.58596	Pathogenic	RGSPSRREQKP	Phe	Cys	Nonpolar to Nonpolar	hg19
chr1	17,022,724	G	C	SDHB	missense_variant	7	c.649C>G	p.Arg217Gly	17,022,724	rs200245469	0	0	0	0	0	0	4.46275	32	0	0	0.050103	0.94523	0.004667	0.033115	0.95816	0.008725	0.146089	0.849249	0.004662	0.204896	-0.205942	-0.043542	N	G	C	CCAGCGATAGG	CCAGCCATAGG	5.3	5.3	0.74646	125	7.45	0.79716	11.856	0.98202	0.676	0.7674	D	D	0.90584	0.97372	0.966	0.99545	Damaging	High	0	1	2.69	397	0.0;0.0;1.0;0.0	17.8788	0.88696	Pathogenic	LMQAYRWMIDS	Arg	Gly	Basic to Nonpolar	hg19
chrX	51,618,701	A	C	CENPVL3	missense_variant	1	c.173T>G	p.Leu58Trp	51,618,701	AlleleID_4021295	0	0	0	0	0	0	-0.105867	0.807	0	0	null	null	null	null	null	null	null	null	null	null	null	null	null	A	C	GCCGCAACTTT	GCCGCCACTTT	0	0	null	61	-1.515	0.02356	-0.9	0.06995	-1.103	0.01505	null	null	0.60381	null	0.52	null	Tolerated	Low	0.188	0.812188	3.47	11	null	0	null	Benign	RWLGKLRRKRR	Leu	Trp	Nonpolar to Nonpolar	hg19
chr14	103,532,732	C	A	TRMT61A	missense_variant	3	c.482C>A	p.Thr161Asn	103,532,732	AlleleID_4302299	0	0	0	0	0	0	1.463159	15.5	0	0	0.005702	0.72262	0.271678	0.004683	0.682414	0.312903	0.148378	0.76523	0.086392	0.137549	0.553522	0.579454	N	C	A	GCGCACCCAGG	GCGCAACCAGG	5.1	0.418	0.15576	65	4.241	0.58503	2.06	0.30389	0.537	0.25018	B	B	0.02946	0.04355	0.104	0.29647	Tolerated	High	0.485	0.515485	2.54	81	0.573;0.3499;0.0771;0.0	9.07	0.3546	Benign	WVTVRTQDVCR	Thr	Asn	Polar to Polar	hg19
chr20	62,311,731	G	A	LAMA5	missense_variant	71	c.9689C>T	p.Pro3230Leu	62,311,731	AlleleID_4729708	0	0	0	0	0	0	0.035328	1.572	0	0	0.943038	0.056962	0	0.318442	0.681558	0	0.999989	0.000011	0	-0.411115	-1.979999	-1.535727	N	G	A	GGGGTGGTCCC	GGGGTAGTCCC	4.46	-4.46	0.03269	98	0.238	0.17782	-0.523	0.08678	-0.817	0.03001	B	B	0.02946	0.04355	0.016	0.02506	Tolerated	High	0.332	0.668332	2.88	31	0.4529;0.1638;0.2817;0.1015	2.6946	0.04776	Benign	KPHRGPPPELQ	Pro	Leu	Nonpolar to Nonpolar	hg38
chr6	15,496,915	G	A	JARID2	missense_variant	7	c.1690G>A	p.Ala564Thr	15,496,915	rs757273269	0	0	0	0	0	0	2.330322	21.7	0	0	0.999862	0.000138	0	0.999579	0.000421	0	0.999897	0.000103	0	1.023978	0.884073	1.151364	N	G	A	CCTCCGCCAAG	CCTCCACCAAG	5.23	5.23	0.72462	58	1.627	0.36661	8.565	0.77582	0.65	0.52971	B	B	0.15093	0.11217	0.046	0.12618	Tolerated	Low	0.488	0.512488	3.48	18	0.0873;0.1547;0.7581;0.0	8.7785	0.33751	Benign	VLRPSAKEFHD	Ala	Thr	Nonpolar to Polar	hg19
chr6	30,069,224	G	A	PPP1R11	missense_variant	3	c.299G>A	p.Arg100His	30,069,224	rs770307762	0	0	0	0	0	0	0.897954	10.41	0	0	0.783087	0.210099	0.006814	null	null	null	0.771381	0.219203	0.009416	0.343871	0.804354	0.738122	N	G	A	GCGTCGTGCAA	GCGTCATGCAA	5.4	-9.31	0.00548	29	0	null	0	null	null	null	B	B	0.02946	0.01387	0.062	0.17934	Tolerated	High	0.175	0.825175	2.91	21	0.2989;0.2598;0.4413;0.0	7.9585	0.29047	Benign	RKGRRRATLGP	Arg	His	Basic to Basic	hg19
chrX	103,787,904	T	C	PLP1	missense_variant	4	c.560T>C	p.Ile187Thr	103,787,904	rs132630288	0	0	0	0	0	0	3.087241	23.6	0	0	0.902959	0.096213	0.000829	0.882134	0.116503	0.001363	0.887965	0.110582	0.001453	null	null	null	null	T	C	GTCTATTGCCT	GTCTACTGCCT	5.58	5.58	0.843	89	7.674	0.83146	7.848	0.70832	0.665	0.62972	D	P	0.59353	0.549	0.52	null	Tolerated	High	0.264	0.736264	3.16	69	0.0;0.0;0.0;1.0	12.5356	0.55307	Pathogenic	TTCQSIAFPSK	Ile	Thr	Nonpolar to Polar	hg19
chr13	51,935,614	A	G	ATP7B	missense_variant	20	c.4103T>C	p.Leu1368Pro	51,935,614	rs749171049	0	0	0	0	0	0	4.184327	28.5	0	0	0	0.005483	0.994517	0	0.013689	0.986311	0	0.075685	0.924315	-2.09996	-0.354683	-1.030212	N	A	G	ATGAGAGCACC	ATGAGGGCACC	5.23	5.23	0.72462	98	7	0.76045	9.156	0.7897	0.756	0.94297	D	D	0.90584	0.92359	0.911	0.97624	Tolerated	High	0.132	0.868132	2.46	102	1.0;0.0;0.0;0.0	15.2853	0.73407	Pathogenic	SVSVVLSSLQL	Leu	Pro	Nonpolar to Nonpolar	hg19
chr12	102,847,292	T	C	PAH	intron_variant	null	c.913-341A>G	null	102,847,292	rs1722387	0.867412	0.837368	0.889049	0.849206	0.841948	0.937628	0	0	0	0	0	0.307449	0.692551	0	0.449969	0.550031	0	0.35993	0.64007	0.848617	1.120173	1.303993	N	T	C	CAGAATATTCC	CAGAACATTCC	0	0	null	0	0	null	0	null	null	null	B	B	0	0	0	0	Tolerated	null	1	0	null	null	null	0	null	Benign	null	-	-	No_Change	hg19
chr12	102,843,728	C	T	PAH	missense_variant	11	c.1117G>A	p.Ala373Thr	102,843,728	rs62508717	0	0	0	0	0	0	2.904137	23.2	0	0	0	0.307449	0.692551	0	0.449969	0.550031	0	0.35993	0.64007	0.848617	1.120173	1.303993	N	C	T	GATGGCTGTCT	GATGGTTGTCT	5.34	3.31	0.36866	58	-0.049	0.11879	3.944	0.40624	0.549	0.26987	P	B	0.38028	0.44481	0.739	0.90939	Damaging	High	0.015	0.985015	2.49	178	0.228;0.772;0.0;0.0	14.4787	0.67001	Pathogenic	ELEKTAIQNYT	Ala	Thr	Nonpolar to Polar	hg19
chrX	67,723,701	C	T	AR	missense_variant	8	c.2623C>T	p.His875Tyr	67,723,701	rs137852581	0	0	0	0	0	0	3.771033	25.7	0	0	0.99491	0.00509	0.000001	0.991745	0.008253	0.000002	0.992109	0.007889	0.000002	null	null	null	null	C	T	AGCTGCATCAG	AGCTGTATCAG	5.18	5.18	0.71026	83	7.905	0.86479	7.541	0.60087	0.596	0.33519	null	null	0.60381	null	0.917	0.97852	Damaging	High	0.008	0.992008	2.26	83	0.0;1.0;0.0;0.0	14.9089	0.70254	Pathogenic	IARELHQFTFD	His	Tyr	Basic to Nonpolar	hg38
chr19	16,862,413	G	A	SIN3B	missense_variant	9	c.1120G>A	p.Ala374Thr	16,862,413	rs149533205	0.000399	0.000756	0	0.000992	0	0	1.610815	16.44	0.000465	0	0.992239	0.007761	0	0.996218	0.003782	0	0.976316	0.023684	0	0.758291	0.724615	0.921356	N	G	A	CCTTCGCGCCA	CCTTCACGCCA	4.63	3.59	0.40089	58	4.498	0.60095	6.668	0.56269	0.676	0.7674	B	B	0.22733	0.22741	0.043	0.11576	Tolerated	Low	0.381	0.619381	3.6	45	0.1667;0.0;0.8333;0.0	9.9557	0.40644	Benign	KELSFAPPMSD	Ala	Thr	Nonpolar to Polar	hg19
chr10	47,304	A	G	TUBB8	missense_variant	4	c.1088T>C	p.Met363Thr	47,304	rs869025611	0	0	0	0	0	0	2.230283	21.1	0	0	0.266954	0.707835	0.025211	0.230399	0.735476	0.034125	0.234575	0.726046	0.039379	null	null	null	null	A	G	CTGACATTTTT	CTGACGTTTTT	0	0	null	81	6.494	0.73569	6.918	0.5692	0.3	0.18932	D	D	0.6407	0.67449	0.52	null	Damaging	High	0.029	0.971029	3.15	367	0.9994;0.0;6.0E-4;0.0	4.5487	0.11417	Pathogenic	PRGLKMSATFI	Met	Thr	Nonpolar to Polar	hg19
chr2	148,469,405	G	C	MBD5	missense_variant	8	c.1462G>C	p.Val488Leu	148,469,405	rs778427674	0	0	0	0	0	0	3.585987	25	0	0	0.999852	0.000148	0	0.999657	0.000343	0	0.999924	0.000076	0	0.122746	-2.373047	-1.7824	N	G	C	TTAAGGTTCCA	TTAAGCTTCCA	4.39	4.39	0.52044	32	6.039	0.70611	8.37	0.77046	0.676	0.7674	D	D	0.63424	0.74843	0.248	0.55615	Tolerated	High	0.08	0.92008	2.75	23	0.0;0.0;1.0;0.0	17.5228	0.87631	Benign	SSGIKVPPRSP	Val	Leu	Nonpolar to Nonpolar	hg19
chr3	136,260,516	A	G	PCCB	missense_variant	4	c.410A>G	p.His137Arg	136,260,516	rs1391142709	0	0	0	0	0	0	3.917864	26.5	0	0	0.000736	0.995461	0.003803	0.002059	0.993678	0.004263	0.047161	0.951562	0.001277	0.472181	0.26511	0.410152	N	A	G	AGCACATGCCC	AGCACGTGCCC	5.81	5.81	0.92386	29	8.739	0.91269	11.137	0.8696	0.756	0.94297	D	P	0.58756	0.64494	0.964	0.9949	Damaging	Low	0.005	0.995005	3.41	399	1.0;0.0;0.0;0.0	15.1493	0.72242	Pathogenic	SLSGAHAQKIC	His	Arg	Basic to Basic	hg19
chr19	17,422,395	C	T	MVB12A	missense_variant	4	c.350C>T	p.Thr117Met	17,422,395	rs150457252	0	0	0	0	0	0	0.214524	3.29	0	0.000454	0.000679	0.914543	0.084778	0.000453	0.866867	0.132679	0.000422	0.835357	0.164221	0.152955	-0.230128	-0.093472	N	C	T	GGACACGGCTG	GGACATGGCTG	5.3	-2.27	0.06422	81	-0.373	0.0755	-0.418	0.09303	-0.234	0.07639	B	B	0.20242	0.20508	0.06	0.17295	Tolerated	High	0.136	0.864136	2.78	23	0.0;0.2628;0.0;0.7372	10.0301	0.41077	Benign	LGATDTAVFDV	Thr	Met	Polar to Nonpolar	hg38
chr16	56,899,607	G	A	SLC12A3	missense_variant	23	c.2711G>A	p.Arg904Gln	56,899,607	rs11643718	0.079872	0.006051	0.136888	0.074405	0.139165	0.083845	1.745387	17.34	0.103953	0.021611	0	0.082861	0.917139	0	0.457937	0.542063	0	0.020544	0.979456	-0.258084	1.038225	0.566709	N	G	A	CCCTCGGGCTG	CCCTCAGGCTG	4.9	1.7	0.23246	43	1.303	0.33075	1.308	0.2552	0.676	0.7674	B	B	0.02946	0.04355	0.015	0.02232	Tolerated	High	0.824	0.176823	2.6	109	0.2824;0.0;0.7176;0.0	8.3737	0.31412	Benign	INQNPRAEHTK	Arg	Gln	Basic to Polar	hg19
chr2	71,570,703	C	A	DYSF	missense_variant	29	c.3190C>A	p.Arg1064Ser	71,570,703	rs752810646	0	0	0	0	0	0	3.99254	26.9	0	0	0	0.999999	0.000001	0	0.999998	0.000002	0	0.999985	0.000015	-0.968787	-1.246418	-1.027798	N	C	A	GCCTGCGCAGG	GCCTGAGCAGG	5.21	5.21	0.71895	110	0	null	0	null	null	null	D	D	0.90584	0.97372	0.776	0.92501	Damaging	High	0.001	0.999001	2.65	80	0.0;1.0;0.0;0.0	16.273	0.82378	Pathogenic	HRQAEAEGEGW	Arg	Ser	Basic to Polar	hg38
chr3	47,501,822	A	C	ELP6	missense_variant	5	c.353T>G	p.Leu118Trp	47,501,822	rs2108086458	0	0	0	0	0	0	3.934819	26.6	0	0	0.003508	0.838054	0.158438	0.002647	0.791361	0.205992	0.014905	0.858299	0.126796	-0.103585	-0.169995	-0.136525	N	A	C	CAAACAATGGT	CAAACCATGGT	5.67	5.67	0.87626	61	8.19	0.89672	9.141	0.78911	0.756	0.94297	D	D	0.90584	0.97372	0.887	0.96725	Damaging	High	0	1	2.89	26	1.0;0.0;0.0;0.0	14.1566	0.64805	Pathogenic	GNLKPLFEFVR	Leu	Trp	Nonpolar to Nonpolar	hg19
chr7	117,480,132	C	T	CFTR	missense_variant	1	c.38C>T	p.Ser13Phe	117,480,132	rs397508635	0	0	0	0	0	0	4.161329	28.3	0	0	0	0.000005	0.999995	0	0.00012	0.99988	0	0.000012	0.999988	-2.623544	-0.857439	-1.552174	N	C	T	TGTCTCCAAAC	TGTCTTCAAAC	4.18	4.18	0.48304	155	3.852	0.55642	7.631	0.62734	0.549	0.26987	D	D	0.90584	0.92359	0.967	0.99571	Damaging	Low	0	1	3.63	27	0.0;1.0;0.0;0.0	12.1667	0.53256	Pathogenic	KASVVSKLFFS	Ser	Phe	Polar to Nonpolar	hg19
chr14	101,975,796	A	G	DYNC1H1	missense_variant	2	c.341A>G	p.Asn114Ser	101,975,796	rs781336672	0	0	0	0	0	0	1.924685	18.68	0	0	1	0	0	1	0	0	1	0	0	-0.144988	0.48906	0.320234	N	A	G	ATCCAATAGGT	ATCCAGTAGGT	5.35	4.17	0.48134	46	6.667	0.74293	6.914	0.56908	0.686	0.82685	B	B	0.11197	0.06944	0.054	0.1533	null	null	0.015	null	null	null	0.8582;0.1418;0.0;0.0	12.2951	0.5398	Benign	YGVKSNSLAFI	Asn	Ser	Polar to Polar	hg19
chr12	102,859,726	A	G	PAH	intron_variant	null	c.510-4394T>C	null	102,859,726	rs144487577	0.040335	0.044629	0.056196	0.002976	0.064612	0.03681	0	0	0	0	0	0.307449	0.692551	0	0.449969	0.550031	0	0.35993	0.64007	0.848617	1.120173	1.303993	N	A	G	ACCACATGATT	ACCACGTGATT	0	0	null	0	0	null	0	null	null	null	B	B	0	0	0	0	Tolerated	null	1	0	null	null	null	0	null	Benign	null	-	-	No_Change	hg19
chr16	3,013,943	G	A	CLDN9	missense_variant	1	c.581G>A	p.Arg194His	3,013,943	AlleleID_4645660	0.000799	0	0	0.003968	0	0	-0.217064	0.469	0.000124	0	0.059927	0.717485	0.222588	0.05531	0.705482	0.239209	0.271234	0.620857	0.107909	0.451537	0.019724	0.234912	N	G	A	GCCCCGCGGAC	GCCCCACGGAC	4.33	0.111	0.13861	29	0	null	0	null	null	null	B	B	0.13644	0.04355	0.111	0.31313	Tolerated	High	0.126	0.874126	2.55	104	0.4578;0.0;0.5422;0.0	7.6371	0.27273	Benign	QVERPRGPRLG	Arg	His	Basic to Basic	hg19
chr22	44,825,524	C	T	ARHGAP8	missense_variant	7	c.527C>T	p.Pro176Leu	44,825,524	rs74393756	0.018371	0.066566	0.004323	0	0	0.001022	0.34647	4.824	0.000465	0.058583	null	null	null	null	null	null	null	null	null	-2.623544	0.465679	-1.019059	Y	C	T	GACGCCGCCTC	GACGCTGCCTC	4.6	1.18	0.19964	98	0.77	0.2628	0.603	0.19949	-0.173	0.1102	B	B	0.33195	0.18489	0.059	0.16972	Tolerated	Low	0.054	0.946054	3.6	44	0.0;0.7049;0.0;0.2951	7.5251	0.26654	Benign	NYLSELHEHLK	Pro	Leu	Nonpolar to Nonpolar	hg38
chr7	149,072,336	C	T	ZNF786	missense_variant	4	c.436G>A	p.Ala146Thr	149,072,336	AlleleID_3639296	0	0	0	0	0	0	-1.385762	0.001	0.000726	0	0	0.203154	0.796846	0	0.238117	0.761883	0.000003	0.540101	0.459896	-1.721775	0.468544	-0.555566	N	C	T	CCTGGCGTCGT	CCTGGTGTCGT	4.41	-4.2	0.03541	58	-0.788	0.04719	-2.17	0.0411	-1.606	0.00887	B	B	0.15093	0.04355	0.015	0.02232	Tolerated	High	0.262	0.738262	2.91	9	0.0;0.4571;0.3166;0.2263	7.5767	0.26941	Benign	PQRHDARAPPP	Ala	Thr	Nonpolar to Polar	hg38
chr8	38,414,875	C	G	FGFR1	missense_variant	14	c.1881G>C	p.Arg627Ser	38,414,875	rs1563436265	0	0	0	0	0	0	3.671615	25.3	0	0	0.988744	0.011256	0	0.998971	0.001029	0	0.967389	0.032611	0	0.902144	-0.032841	0.327896	N	C	G	ACATTCCTGGC	ACATTGCTGGC	5.9	4.02	0.45797	110	0.88	0.27798	0.257	0.16498	0.549	0.26987	D	D	0.90584	0.92359	0.763	0.91962	Damaging	High	0	1	2.29	140	0.0;0.8138;0.1198;0.0665	12.5067	0.55149	Pathogenic	RDLAARNVLVT	Arg	Ser	Basic to Polar	hg19
chr16	2,090,176	A	G	PKD1	missense_variant	46	c.12463T>C	p.Phe4155Leu	2,090,176	AlleleID_3708264	0	0	0	0	0	0	4.356778	30	0	0	0.999905	0.000095	0	0.999968	0.000032	0	0.999998	0.000002	0	null	null	null	null	A	G	TTCAAAGCGGA	TTCAAGGCGGA	4.36	4.36	0.51475	22	8.402	0.90088	11.015	0.84894	0.582	0.30178	D	D	0.90584	0.86255	0.342	0.66392	Damaging	Low	0	1	3.49	17	0.8451;0.1549;0.0;0.0	11.06	0.4697	Pathogenic	RHKVRFEGMEP	Phe	Leu	Nonpolar to Nonpolar	hg19
chr9	128,166,354	C	T	CIZ1	missense_variant	17	c.2540G>A	p.Arg847Gln	128,166,354	rs11549260	0.008586	0	0.010086	0	0.026839	0.009202	2.368816	21.9	0.024262	0.004602	0.993096	0.006904	0	0.982632	0.017368	0	0.995939	0.004061	0	-0.319466	0.037658	-0.09092	N	C	T	CGCACCGGCGG	CGCACTGGCGG	4.45	1.59	0.22514	43	0.883	0.27838	0.336	0.17333	0.599	0.4025	P	B	0.4719	0.32692	0.034	0.08419	Damaging	Low	0.034	0.966034	3.8	20	0.0;0.6797;0.0;0.3203	6.0978	0.19129	Benign	RPVSRRCAINA	Arg	Gln	Basic to Polar	hg38
chr16	89,227,279	C	G	ZNF778	missense_variant	7	c.991C>G	p.His331Asp	89,227,279	AlleleID_4328307	0	0	0	0	0	0	0.928787	10.75	0	0	0	0.003468	0.996532	0	0.007867	0.992133	0	0.002847	0.997153	-2.623544	-1.055405	-2.39233	N	C	G	GAATTCATGCT	GAATTGATGCT	1.13	0.0724	0.13636	81	3.953	0.56407	0.757	0.21283	-0.207	0.08511	B	B	0.12996	0.21939	0.341	0.66297	Damaging	High	0.001	0.999001	2.6	200	0.0;0.7248;0.2752;0.0	7.2631	0.25228	Benign	KHVQTDPGQKP	His	Asp	Basic to Acidic	hg38
chr3	105,367,466	A	G	ALCAM	missense_variant	1	c.58A>G	p.Thr20Ala	105,367,466	AlleleID_4380749	0	0	0	0	0	0	0.671898	8.195	0	0	0.988336	0.011664	0	0.978376	0.021623	0.000001	0.999071	0.000929	0	-0.597011	0.948095	0.340959	N	A	G	CCGCCACCGTC	CCGCCGCCGTC	5.02	3.15	0.35149	58	1.802	0.3849	5.393	0.48489	-0.156	0.11795	B	B	0.02946	0.01387	0.062	0.17934	Tolerated	Low	0.854	0.146853	3.5	9	0.1946;0.0;0.8054;0.0	7.5679	0.26891	Benign	LLISATVFRPG	Thr	Ala	Polar to Nonpolar	hg19
chr17	43,047,678	T	G	BRCA1	missense_variant	22	c.5432A>C	p.Gln1811Pro	43,047,678	rs80357040	0	0	0	0	0	0	4.012712	27.1	0	0	0	0.106035	0.893965	0	0.987832	0.012168	0	0.039737	0.960263	-1.804717	0.372233	-0.541889	N	T	G	CTGGCTGCACA	CTGGCGGCACA	4.98	4.98	0.65545	76	4.16	0.57947	7.819	0.69683	0.661	0.55757	D	D	0.77913	0.76916	0.714	0.89831	Damaging	High	0	1	2.63	33	0.0;0.0;0.0;1.0	10.983	0.4653	Pathogenic	PIVVVQPDAWT	Gln	Pro	Polar to Nonpolar	hg19
chr1	26,767,986	G	T	ARID1A	missense_variant	11	c.3185G>T	p.Gly1062Val	26,767,986	rs2124087817	0	0	0	0	0	0	4.256798	29.2	0	0	1	0	0	1	0	0	1	0	0	0.514008	0.940812	0.92827	N	G	T	GATTGGTGGAT	GATTGTTGGAT	5.17	5.17	0.70734	109	10.003	0.99689	11.936	0.99985	0.676	0.7674	D	D	0.90584	0.97372	0.925	0.98154	Damaging	High	0.003	0.997003	2.7	52	0.0;0.0;1.0;0.0	18.8566	0.9219	Pathogenic	SVKEIGGLTQV	Gly	Val	Nonpolar to Nonpolar	hg19
chrX	149,503,485	G	T	IDS	missense_variant	3	c.245C>A	p.Ala82Glu	149,503,485	AlleleID_3414388	0	0	0	0	0	0	3.943352	26.6	0	0	0.97926	0.020723	0.000018	0.970475	0.029483	0.000042	0.971796	0.028158	0.000046	null	null	null	null	G	T	ACACTGCTTGC	ACACTTCTTGC	4.43	4.43	0.52799	107	0	null	0	null	null	null	D	D	0.90584	0.86255	0.964	0.9949	Damaging	High	0.002	0.998002	2.54	48	0.0;0.0;1.0;0.0	16.5561	0.84264	Pathogenic	AFAQQAVCAPS	Ala	Glu	Nonpolar to Acidic	hg19
chr17	43,094,148	A	T	BRCA1	missense_variant	10	c.1383T>A	p.Phe461Leu	43,094,148	rs56046357	0	0	0	0	0	0	3.245205	24	0	0	0	0.106035	0.893965	0	0.987832	0.012168	0	0.039737	0.960263	-1.804717	0.372233	-0.541889	N	A	T	TTCCCAAATAT	TTCCCTAATAT	4.57	1.03	0.19076	22	1.837	0.38841	2.173	0.31069	0.756	0.94297	D	D	0.90584	0.97372	0.846	0.95212	Damaging	High	0	1	2.8	199	0.7553;0.0;0.2447;0.0	7.6673	0.27438	Benign	IEDKIFGKTYR	Phe	Leu	Nonpolar to Nonpolar	hg19
chr2	241,204,892	C	T	ANO7	missense_variant	10	c.917C>T	p.Ala306Val	241,204,892	rs111978925	0.000799	0.003026	0	0	0	0	2.622626	22.7	0.000116	0.007944	0	0.000019	0.999981	0	0.000016	0.999984	0	0.00004	0.99996	-1.088136	-2.132837	-1.805746	N	C	T	GCCAGCGGCAG	GCCAGTGGCAG	3.54	3.54	0.39488	64	3.39	0.52263	0.53	0.1924	0.454	0.21428	D	P	0.7322	0.64047	0.383	0.70029	Tolerated	High	0.066	0.934066	2.63	52	0.0;1.0;0.0;0.0	12.6136	0.5574	Benign	PPEGPQAPRLN	Ala	Val	Nonpolar to Nonpolar	hg19
chrX	48,527,018	T	C	EBP	missense_variant	3	c.331T>C	p.Tyr111His	48,527,018	rs587783614	0	0	0	0	0	0	3.942745	26.6	0	0	0.85863	0.139181	0.00219	0.835956	0.160815	0.003229	0.845349	0.151305	0.003347	null	null	null	null	T	C	GCCGATACATC	GCCGACACATC	5.74	5.74	0.90032	83	7.272	0.77907	7.794	0.68965	0.659	0.54702	D	D	0.90584	0.78936	0.93	0.98341	Damaging	High	0	1	2.62	36	0.0;0.0;0.0;1.0	11.2414	0.48015	Pathogenic	KGDSRYILGDN	Tyr	His	Nonpolar to Basic	hg38
chr13	32,338,940	G	A	BRCA2	missense_variant	11	c.4585G>A	p.Gly1529Arg	32,338,940	rs28897728	0.000599	0	0.001441	0	0.001988	0	3.991024	26.9	0.000698	0	0	0.999975	0.000025	0	0.999999	0.000001	0	0.999886	0.000114	-0.587781	1.061048	0.429504	N	G	A	CTAGCGGGAAA	CTAGCAGGAAA	5.74	5.74	0.90032	125	7.78	0.8429	11.7	0.94485	0.676	0.7674	null	null	0.60381	null	0.895	0.97022	Damaging	High	0.002	0.998002	2.61	25	0.0;0.0;1.0;0.0	19.9173	0.97055	Benign	FHTASGKKVKI	Gly	Arg	Nonpolar to Basic	hg38
chr6	33,437,835	G	C	SYNGAP1	missense_variant	8	c.930G>C	p.Glu310Asp	33,437,835	rs1760890843	0	0	0	0	0	0	3.094308	23.6	0	0	0.999998	0.000002	0	0.999995	0.000005	0	0.999993	0.000007	0	-1.290746	-0.703853	-0.901698	N	G	C	GGCGAGCACTT	GGCGACCACTT	4.89	2.78	0.31561	45	1.431	0.34534	3.877	0.40219	0.676	0.7674	D	D	0.90584	0.92359	0.666	0.87576	Damaging	High	0	1	2.9	65	0.3091;0.0;0.6909;0.0	6.1554	0.19423	Pathogenic	TVFWGEHFEFN	Glu	Asp	Acidic to Acidic	hg38

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