paneldecision	GeneName	1Case	Class	AAChange	dbSNP	Additional Somatic or Germline Lesions	2NHLBI Frequency	COSMIC	3PCGP Somatic Mutation	in-silico Prediction	Polyphen2	Mutation Assessor	4GSB Class	PubMed References	Chr	WU_HG19_Pos	ReferenceAllele	MutantAllele	Flanking	Protein GI	mRNA accession	#Reads in Tumor				Discovery WES Read Count				5Validation MiSeq Read Count				Validation Status	
P	ALK	SJNBL135	missense	R1275Q	rs113994087	none	NA	Yes			D	M	Gold	PUBMED=18923525	chr2	29432664	C	T	TTACTCACCTGTAGATGTCT[C/T]GGGCCATCCCGAAGTCTCCA	29029632	NM_004304	.	.	.	.	0	30	6	24	N/A	N/A	N/A	N/A	Putative	
LP	APC	SJBALL021434	missense	R1676G	rs370560998	none	0.000307598				B	N	Gold	PUBMED=18199528	chr5	112176317	A	G	TAGCTGCTGGAGAAGGAGTT[A/G]GAGGAGGGGCACAGTCAGGT	53759122	NM_000038	.	.	.	.	26	56	56	159	3585	9259	3866	8659	Valid	
LP	APC	SJHYPER102	missense	C1270F	N/A	none	NA				D	M	Gold	PUBMED=10982189	chr5	112175100	G	T	TGTAGAAGATACTCCAATAT[G/T]TTTTTCAAGATGTAGTTCAT	53759122	NM_000038	22	44	25	43	.	.	.	.	4345	9607	3259	6859	Valid	
P	APC	SJMB002	nonsense	Y935*	rs137854575	LOH	NA	Yes		T			Gold	PUBMED=1324223	chr5	112174096	C	A	CATACACATTCAAACACTTA[C/A]AATTTCACTAAGTCGGAAAA	189011568	NM_000038	36	38	14	23	.	.	.	.	11204	11461	6846	14276	Valid	
LP	APC	SJMB015	missense	R414C	rs137854567	one copy loss	0.000768994			D	D	M	Gold	"PUBMED=1651563,20685668"	chr5	112154969	C	T	TTCATCTTTTGGAACAGATA[C/T]GCGCTTACTGTGAAACCTGT	189011568	NM_000038	5	15	5	17	.	.	.	.	2082	3800	2897	5454	Valid	
LP	APC	SJMB027	missense	D1714N	rs148275069	subclonal LOH	0.000307598				B	L	Gold	PUBMED=15122587	chr5	112176431	G	A	CTGTAACCATACCTGAATTG[G/A]ATGACAATAAAGCAGAGGAA	189011566	NM_000038	22	46	24	48	.	.	.	.	2560	6310	2203	4970	Valid	
LP	APC	SJNBL192	missense	R414H	N/A	none	NA			D	D	M	Gold	"PUBMED=1651563,20685668"	chr5	112154970	G	A	TCATCTTTTGGAACAGATAC[G/A]CGCTTACTGTGAAACCTGTT	53759122	NM_000038	22	36	12	27	.	.	.	.	1583	2925	1248	2313	Valid	
LP	APC	SJOS001106	missense	R414C	rs137854567	LOH	0.000768994			D	D	M	Gold	"PUBMED=1651563,20685668"	chr5	112154969	C	T	TTCATCTTTTGGAACAGATA[C/T]GCGCTTACTGTGAAACCTGT	189011568	NM_000038	30	33	20	27	.	.	.	.	5603	6241	2839	5113	Valid	
P	BRCA1	SJBALL021324	frameshift	I783fs	N/A	none	NA						Gold	PUBMED=11920643	chr17	41245200	AT	-	CAGTAACGAG(AT>--)ACTTTCCTGA	237681119	NM_007300	.	.	.	.	28	56	20	46	3650	12245	3282	11633	Valid	
P	BRCA2	SJBALL079	splice	W2830_E20splice	N/A	none	NA						Gold	PUBMED=12065746	chr13	32945092	G	A	GTGTGTAACACATTATTACA[G/A]TGGATGGAGAAGACATCATC	119395734	NM_000059	.	.	.	.	23	47	22	43	Sanger	Sanger	Sanger	Sanger	Valid	
P	BRCA2	SJE2A036	nonsense	Y3098*	rs80359200	none	NA			T			Gold	PUBMED=12698193	chr13	32968863	C	G	TATTTGTCAGACGAATGTTA[C/G]AATTTACTGGCAATAAAGTT	119395734	NM_000059	.	.	.	.	23	43	19	37	5153	10378	4684	8830	Valid	
P	BRCA2	SJMB012	frameshift	P2408fs	N/A	none	NA						Gold		chr13	32929213	C	-	GTCTTTGTTC(C>-)ACCTTTTAAA	119395734	NM_000059	10	49	12	58	.	.	.	.	N/A	N/A	N/A	N/A	Putative	
P	BRCA2	SJMB039	nonsense	L3000*	rs80359151	none	NA			T			Gold		chr13	32953932	T	A	ATCAGATTTATATTCTCTGT[T/A]AACAGAAGGAAAGAGATACA	119395734	NM_000059	9	24	21	42	.	.	.	.	4152	7847	3509	6727	Valid	
P	BRCA2	SJNBL138	splice	W2830_E20splice	N/A	none	NA						Gold	PUBMED=12065746	chr13	32945092	G	A	GTGTGTAACACATTATTACA[G/A]TGGATGGAGAAGACATCATC	119395734	NM_000059	.	.	.	.	21	42	24	55	5280	9726	4602	9381	Valid	
P	BRCA2	SJRHB010	frameshift	Q1063_S1064fs	N/A	0.45 copy loss	NA						Gold		chr13	32911681	GTCA	-	GCAAGCCTCA(GTCA>----)ATTAATACTG	119395734	NM_000059	18	31	22	60	.	.	.	.	5097	11727	4812	15425	Valid	
LP	CDH1	SJPHALL018	missense	P373L						D	D	H	Silver		chr16	68846147	C	T	TGACACCAACGATAATCCTC[C/T]GATCTTCAATCCCACCACGG	4757960	NM_004360	30	58	18	31	.	.	.	.						
P	KRAS	*SJPHALL012	missense	G13D	rs112445441	none	NA	Yes	4	D	P	M	Gold	PUBMED=22669205	chr12	25398281	C	T	TCAAGGCACTCTTGCCTACG[C/T]CACCAGCTCCAACTACCACA	15718763	NM_033360	0	65	10	37	.	.	.	.	3	8635	3759	7723	Valid	
LP	MSH2	SJMEL001001	missense	A2T	rs63750466	none	NA			T	D	L	Gold	PUBMED=16451135	chr2	47630334	G	A	GGTGAGGAGGTTTCGACATG[G/A]CGGTGCAGCCGAAGGAGACG	4557761	NM_000251	10	16	6	11	.	.	.	.	2097	3202	2342	4140	Valid	
P	MSH2	SJOS007	nonsense	R680*	rs63749932	none	NA	Yes		T			Gold	PUBMED=9311737	chr2	47703538	C	T	GAGGTAAATCAACATATATT[C/T]GACAAACTGGGGTGATAGTA	4557761	NM_000251	35	59	13	24	.	.	.	.	9273	17230	8692	16486	Valid	
P	MSH6	SJHGG034	frameshift	E546fs	N/A	 p.R1334Q	NA						Gold	PUBMED=19194194	chr2	48026759	AG	-	AAAGAAAAAG(AG>--)GAAGATTCTT	4504191	NM_000179	32	101	30	114	.	.	.	.	3922	9907	4840	14450	Valid	
LP	NF1	SJEPD001502	missense	R1807W	N/A	none	NA			D	D	M	Gold	PUBMED=21362601	chr17	29654730	C	T	TCCAGTCTATCATTCATATC[C/T]GGACCCGCTGGGAACTGTCA	4557793	NM_000267	.	.	.	.	31	69	46	85	1873	3633	3131	5687	Valid	
P	NF1	SJEPD034	nonsense	Y1106*	N/A	none	NA			T			Gold	PUBMED=22190595	chr17	29559721	C	G	GTCTTTTTATTTCTCAGATA[C/G]TTCACATTATTTATGAACCT	4557793	NM_000267	35	65	25	44	.	.	.	.	3085	5772	2966	5676	Valid	
P	NF1	SJHGG089	nonsense	R416*	N/A	 p.F2176fs	NA	Yes	1	T			Gold	PUBMED=10543400	chr17	29528489	C	T	TGCTGGTAAATTCACTCCAT[C/T]GAATCATCACCAATGTAAGT	4557793	NM_000267	.	.	.	.	21	48	35	92	2779	5263	3828	7541	Valid	
P	NF1	SJLGG022	splice	R2214_E43splice	N/A	 p.T2263_Y2264fs	NA						Gold	PUBMED=15146469	chr17	29664899	G	A	TGGACAGAACTAGCTCAAAG[G/A]TATGTCCTAAATTAAATATA	4557793	NM_000267	8	31	7	16	.	.	.	.	3504	6692	2795	5608	Valid	
P	NF2	SJEPD023	splice	K149_E4splice	N/A	LOH	NA						Gold	PUBMED=15684865	chr22	30038275	G	A	CTTACGCCGTCCAGGCCAAG[G/A]TAGGCTCAAAGAAGAAAAAT	4557795	NM_000268	40	44	20	39	.	.	.	.	9943	10588	6904	13930	Valid	
LP	NF2	SJHYPER143	proteinDel	Q115_H116>H	N/A	none	NA						Silver	PUBMED=15684865	chr22	30035183	ACA	-	AGATCACACA(ACA>---)TTTATTCTTC	4557795	NM_000268	11	48	21	67	.	.	.	.	174	670	1187	3614	Valid	
LP	NRAS	SJHYPO020	missense	G12S	rs121913250	LOH	NA	Yes	7	D	B	L	Gold		chr1	115258748	C	T	TGCGCTTTTCCCAACACCAC[C/T]TGCTCCAACCACCACCAGTT	4505451	NM_002524	26	32	12	24	.	.	.	.	1068	1202	1412	4448	Valid	
LP	PALB2	SJOS001118	frameshift	K550fs									Silver		chr16	23646219	T	-	TGCTGATATT(T>-)GTGTGAGGTG			3	32	17	44										
P	PMS2	SJHGG003	nonsense	Q643*	rs63751422	K413fs	0.000153775			T			Gold	PUBMED=16144131	chr7	6026469	G	A	CCTAAACTTCCTGTAATTCT[G/A]TTCCCCTTCACTTTGCTGTG	4505913	NM_000535	26	48	9	22	26	46	16	40	14	30	48	127	Valid	
P	PMS2	SJHGG111	nonsense	Q643*	rs63751422	germline K413fs	0.000153775			T			Gold	PUBMED=16144131	chr7	6026469	G	A	CCTAAACTTCCTGTAATTCT[G/A]TTCCCCTTCACTTTGCTGTG	4505913	NM_000535	28	49	18	37	34	74	27	58	118	255	233	443	Valid	
P	PMS2	SJHGG111	frameshift	K413fs		germline Q643*							Gold		chr7	6027157	-	T		4505913	NM_000535	19	40	16	35	.	.	.	.						
P	PTCH1	SJBALL013	frameshift	V1082fs	N/A	none	NA						Gold		chr9	98218616	-	C	CAGGATGACC(->C)ACGGGCACGG	134254466	NM_001083603	32	61	27	46	.	.	.	.	N/A	N/A	N/A	N/A	Putative	
P	RB1	^SJRB002	nonsense	R445*	rs3092891	LOH	NA	Yes	1				Gold	"PUBMED=2594029,8651278,9311732,9973307,11317357,12402348,12541220,12955724,14631101,14722923,14769601,15166261,15605413,15776430,15884040,16972022,17960112,22963398"	chr13	48953730	C	T	TTCTTTTTGTTTGTTTGTAG[C/T]GATACAAACTTGGAGTTCGC	108773787	NM_000321	20	31	0	10	.	.	.	.	40	54	7	62	Mosaicism	
P	RB1	SJOS001111	splice	V314_E10splice	N/A	LOH	NA						Gold		chr13	48941629	G	A	CAGTGACTTTTTTCTTTCAA[G/A]GTTGAAAATCTTTCTAAACG	108773787	NM_000321	41	48	19	38	.	.	.	.	2223	2580	1977	4186	Valid	
P	RB1	SJRB001130	nonsense	R445*	rs3092891	LOH	NA	Yes	1				Gold	"PUBMED=2594029,8651278,9311732,9973307,11317357,12402348,12541220,12955724,14631101,14722923,14769601,15166261,15605413,15776430,15884040,16972022,17960112,22963398"	chr13	48953730	C	T	TTCTTTTTGTTTGTTTGTAG[C/T]GATACAAACTTGGAGTTCGC	108773787	NM_000321	24	38	10	25	.	.	.	.	3353	4949	2405	4608	Valid	
P	RET	SJEWS001308	missense	L790F	rs75030001	none	NA			D	D	L	Gold	PUBMED=9506724	chr10	43613906	G	C	CACCCACATGTCATCAAATT[G/C]TATGGGGCCTGCAGCCAGGA	10862703	NM_020975	23	47	16	34	.	.	.	.	7592	14385	7144	13226	Valid	
P	RET	SJHYPO055	missense	K666E	rs143795581	none	0.000153775			D	D	L	Gold	PUBMED=15858153	chr10	43610044	A	G	GCTACCACAAGTTTGCCCAC[A/G]AGCCACCCATCTCCTCAGCT	10862703	NM_020975	24	54	17	30	.	.	.	.	4534	10854	7248	16308	Valid	
P	RET	SJHYPO146	missense	V804M	rs79658334	0.5 copy loss	0.000155448			D	D	N	Gold	PUBMED=8797874	chr10	43614996	G	A	CAGGCCCGCTCCTCCTCATC[G/A]TGGAGTACGCCAAATACGGC	10862703	NM_020975	8	13	22	35	.	.	.	.	2943	4356	3188	6785	Valid	
LP	RUNX1	SJINF015	splice	R178_E4splice	N/A	none	NA						Gold		chr21	36206901	A	G	CTAGTTTCTGCCGATGTCCT[A/G]TTGTGGGGAGCAGGGAGGGG	49574546	NM_001001890	11	18	5	12	.	.	.	.	Sanger	Sanger	Sanger	Sanger	Valid	
P	RUNX1	SJLGG009	missense	N159D	N/A	none	NA			D	D	M	Silver		chr21	36252887	T	C	ACCGACAAACCTGAGGTCAT[T/C]AAATCTTGCAACCTGGTTCT	19923198	NM_001754	17	38	14	27	.	.	.	.	Sanger	Sanger	Sanger	Sanger	Valid	
LP	RUNX1	SJPHALL020044	missense	R204Q	N/A	none	NA	Yes		D	D	M	Silver	PUBMED=19357396	chr21	36231773	C	T	CCAAGTGGATGCACTTACTT[C/T]GAGGTTCTCGGGGCCCATCC	19923198	NM_001754	33	64	12	29	35	58	22	67	Sanger	Sanger	Sanger	Sanger	Valid	
LP	SDHA	SJMLL010	nonsense	R75*	N/A	none	NA			T			Silver	PUBMED=23750034	chr5	224547	C	T	GCGCTGGAGGGGCAGGCTTG[C/T]GAGCTGCATTTGGCCTTTCT	156416003	NM_004168	.	.	.	.	116	219	114	210	Sanger	Sanger	Sanger	Sanger	Valid	
LP	SDHB	SJNBL034	missense	R46G	rs74315370	LOH	NA			D	D	H	Gold	PUBMED=12000816	chr1	17371320	G	C	AGCCTTGTCTGGGTCCCATC[G/C]ATAGATGGCAAATTTCTTGA	115387094	NM_003000	18	22	19	38	.	.	.	.	7542	8836	3993	7463	Valid	
P	TP53	^SJHYPO055	missense	T125R	N/A	LOH	NA		1	D	D	M	Gold	PUBMED=20127978	chr17	7579313	G	C	GCCCCTCAGGGCAACTGACC[G/C]TGCAAGTCACAGACTTGGCT	120407068	NM_000546	22	27	4	37	.	.	.	.	4143	4628	487	2383	Mosaicism	
P	TP53	^SJHYPO119	missense	R273H	rs28934576	LOH	NA	Yes	3	D	P	M	Gold	PUBMED=1565144	chr17	7577120	C	T	TCCCAGGACAGGCACAAACA[C/T]GCACCTCAAAGCTGTTCCGT	120407068	NM_000546	19	24	10	31	.	.	.	.	10109	11604	3327	11182	Mosaicism	
P	TP53	^SJHYPO140	nonsense	R213*	N/A	none	NA	Yes	1	T			Gold	PUBMED=8134126	chr17	7578212	G	A	GGGCACCACCACACTATGTC[G/A]AAAAGTGTTTCTGTCATCCA	120407068	NM_000546	.	.	.	.	28	42	12	45	6427	8003	2407	9631	Mosaicism	
P	TP53	SJACT001	missense	I332F	N/A	LOH	NA			D	D	M	Gold	PUBMED=22170717	chr17	7574033	T	A	GAAGCGCTCACGCCCACGGA[T/A]CTGCAGCAACAGAGGAGGGG	120407068	NM_000546	37	40	17	35	.	.	.	.	6590	7320	2762	5901	Valid	
P	TP53	SJACT002	missense	R213Q	N/A	LOH	NA	Yes		D	D	M	Gold	PUBMED=18208484	chr17	7578211	C	T	AGGGCACCACCACACTATGT[C/T]GAAAAGTGTTTCTGTCATCC	120407068	NM_000546	18	27	7	23	.	.	.	.	6552	7574	2236	6181	Valid	
P	TP53	SJACT005	missense	R273C	rs121913343	LOH	NA	Yes	4	D	D	M	Gold	PUBMED=8479749	chr17	7577121	G	A	CCCAGGACAGGCACAAACAC[G/A]CACCTCAAAGCTGTTCCGTC	120407068	NM_000546	18	20	13	26	.	.	.	.	9645	11311	5900	11337	Valid	
P	TP53	SJACT008	missense	G245C	rs28934575	LOH	NA	Yes		D	D	M	Gold	PUBMED=1978757	chr17	7577548	C	A	GATGGGCCTCCGGTTCATGC[C/A]GCCCATGCAGGAACTGTTAC	120407068	NM_000546	24	28	21	41	.	.	.	.	7466	8200	5170	10038	Valid	
P	TP53	SJACT010	nonsense	R196*	N/A	LOH	NA	Yes		T			Gold	PUBMED=7978053	chr17	7578263	G	A	ACGCAAATTTCCTTCCACTC[G/A]GATAAGATGCTGAGGAGGGG	120407068	NM_000546	.	.	.	.	74	93	94	200	8228	9167	3037	5811	Valid	
P	TP53	SJACT012	missense	E285V	rs121912667	LOH	NA	Yes		D	D	M	Gold	PUBMED=18762572	chr17	7577084	T	A	TCTTGCGGAGATTCTCTTCC[T/A]CTGTGCGCCGGTCTCTCCCA	120407068	NM_000546	.	.	.	.	313	407	101	223	Sanger	Sanger	Sanger	Sanger	Valid	
P	TP53	SJACT013	missense	G266E	rs193920774	LOH	NA	Yes		D	D	M	Gold		chr17	7577141	C	T	GCACCTCAAAGCTGTTCCGT[C/T]CCAGTAGATTACCACTACTC	120407068	NM_000546	.	.	.	.	178	190	84	187	6210	6686	5258	10040	Valid	
P	TP53	SJACT014	splice	T125_E4splice	N/A	LOH	NA						Gold	PUBMED=7887414	chr17	7579311	C	T	CAGCCCCTCAGGGCAACTGA[C/T]CGTGCAAGTCACAGACTTGG	120407068	NM_000546	.	.	.	.	32	38	43	89	5750	6593	5631	10744	Valid	
P	TP53	SJACT015	missense	V157F	rs121912654	LOH	NA	Yes	1	D	D	M	Gold	PUBMED=23894400	chr17	7578461	C	A	GTAGATGGCCATGGCGCGGA[C/A]GCGGGTGCCGGGCGGGGGTG	120407068	NM_000546	.	.	.	.	104	110	50	120	9195	9869	4483	8797	Valid	
P	TP53	SJACT018	missense	V218M	N/A	LOH	NA			D	D	M	Gold		chr17	7578197	C	T	CTCAGGCGGCTCATAGGGCA[C/T]CACCACACTATGTCGAAAAG	120407068	NM_000546	.	.	.	.	138	151	45	87	1410	1529	2455	4919	Valid	
P	TP53	SJACT025	frameshift	N310fs	N/A	none	NA	Yes					Gold		chr17	7576916	-	T	AGCTGGTGTT(->T)GTTGGGCAGT	120407068	NM_000546	44	74	79	165	.	.	.	.	5007	8129	4486	10018	Valid	
P	TP53	SJACT026	missense	R337H	rs121912664	LOH	NA	Yes		D	D	M	Gold	PUBMED=10864200	chr17	7574017	C	T	GCTCTCGGAACATCTCGAAG[C/T]GCTCACGCCCACGGATCTGC	120407068	NM_000546	.	.	.	.	355	628	112	192	4036	5451	4433	7265	Valid	
P	TP53	SJACT027	missense	R337H	rs121912664	LOH	NA	Yes		D	D	M	Gold	PUBMED=10864200	chr17	7574017	C	T	GCTCTCGGAACATCTCGAAG[C/T]GCTCACGCCCACGGATCTGC	120407068	NM_000546	.	.	.	.	116	136	60	63	4732	5508	4383	4849	Valid	
P	TP53	SJACT028	missense	R337H	rs121912664	LOH	NA	Yes		D	D	M	Gold	PUBMED=10864200	chr17	7574017	C	T	GCTCTCGGAACATCTCGAAG[C/T]GCTCACGCCCACGGATCTGC	120407068	NM_000546	.	.	.	.	112	193	284	483	3528	5759	4560	6798	Valid	
P	TP53	SJACT060	missense	R337H	rs121912664	LOH	NA	Yes		D	D	M	Gold	PUBMED=10864200	chr17	7574017	C	T	GCTCTCGGAACATCTCGAAG[C/T]GCTCACGCCCACGGATCTGC	120407068	NM_000546	29	36	18	35	.	.	.	.	4989	6271	2086	4058	Valid	
P	TP53	SJACT061	missense	R337H	rs121912664	LOH	NA	Yes		D	D	M	Gold	PUBMED=10864200	chr17	7574017	C	T	GCTCTCGGAACATCTCGAAG[C/T]GCTCACGCCCACGGATCTGC	120407068	NM_000546	31	41	11	28	.	.	.	.	7556	9582	4881	9492	Valid	
P	TP53	SJACT062	missense	R337H	rs121912664	LOH	NA	Yes		D	D	M	Gold	PUBMED=10864200	chr17	7574017	C	T	GCTCTCGGAACATCTCGAAG[C/T]GCTCACGCCCACGGATCTGC	120407068	NM_000546	38	39	12	27	.	.	.	.	9382	9796	4800	9492	Valid	
P	TP53	SJACT063	missense	R337H	rs121912664	LOH	NA	Yes		D	D	M	Gold	PUBMED=10864200	chr17	7574017	C	T	GCTCTCGGAACATCTCGAAG[C/T]GCTCACGCCCACGGATCTGC	120407068	NM_000546	28	31	11	30	.	.	.	.	11097	12706	5652	11165	Valid	
P	TP53	SJACT064	missense	R337H	rs121912664	LOH	NA	Yes		D	D	M	Gold	PUBMED=10864200	chr17	7574017	C	T	GCTCTCGGAACATCTCGAAG[C/T]GCTCACGCCCACGGATCTGC	120407068	NM_000546	31	37	18	33	.	.	.	.	4935	6556	4769	9023	Valid	
P	TP53	SJACT066	missense	R337H	rs121912664	LOH	NA	Yes		D	D	M	Gold	PUBMED=10864200	chr17	7574017	C	T	GCTCTCGGAACATCTCGAAG[C/T]GCTCACGCCCACGGATCTGC	120407068	NM_000546	13	17	7	17	.	.	.	.	5913	7269	3566	7404	Valid	
P	TP53	SJACT067	missense	R337H	rs121912664	LOH	NA	Yes		D	D	M	Gold	PUBMED=10864200	chr17	7574017	C	T	GCTCTCGGAACATCTCGAAG[C/T]GCTCACGCCCACGGATCTGC	120407068	NM_000546	26	52	11	24	.	.	.	.	8658	12932	6081	11329	Valid	
P	TP53	SJACT068	missense	R337H	rs121912664	LOH	NA	Yes		D	D	M	Gold	PUBMED=10864200	chr17	7574017	C	T	GCTCTCGGAACATCTCGAAG[C/T]GCTCACGCCCACGGATCTGC	120407068	NM_000546	38	38	9	24	.	.	.	.	6320	6536	5416	10151	Valid	
P	TP53	SJACT069	missense	R337H	rs121912664	LOH	NA	Yes		D	D	M	Gold	PUBMED=10864200	chr17	7574017	C	T	GCTCTCGGAACATCTCGAAG[C/T]GCTCACGCCCACGGATCTGC	120407068	NM_000546	40	42	13	29	.	.	.	.	7341	7579	4019	8078	Valid	
P	TP53	SJACT070	missense	R337H	rs121912664	LOH	NA	Yes		D	D	M	Gold	PUBMED=10864200	chr17	7574017	C	T	GCTCTCGGAACATCTCGAAG[C/T]GCTCACGCCCACGGATCTGC	120407068	NM_000546	28	38	13	30	.	.	.	.	5721	7063	2306	4583	Valid	
P	TP53	SJACT071	missense	R337H	rs121912664	LOH	NA	Yes		D	D	M	Gold	PUBMED=10864200	chr17	7574017	C	T	GCTCTCGGAACATCTCGAAG[C/T]GCTCACGCCCACGGATCTGC	120407068	NM_000546	23	30	28	39	.	.	.	.	4777	5495	3951	7543	Valid	
P	TP53	SJBALL264	missense	N235S	rs144340710	none	0.00030755	Yes		T	B	L	Gold	PUBMED=7706467	chr17	7577577	T	C	AGGAACTGTTACACATGTAG[T/C]TGTAGTGGATGGTGGTACAG	120407068	NM_000546	29	45	18	27	.	.	.	.	2155	4110	2783	5327	Valid	
P	TP53	SJCPC001011	missense	R248Q	rs11540652	LOH	0.000153775	Yes	2	D	D	M	Gold	PUBMED=1565143	chr17	7577538	C	T	TGATGGTGAGGATGGGCCTC[C/T]GGTTCATGCCGCCCATGCAG	120407068	NM_000546	20	22	16	31	.	.	.	.	8277	9727	4544	9387	Valid	
LP	TP53	SJEPD008	missense	Y107H	rs368771578	LOH	0.000153775			T	B	L	Gold		chr17	7579368	A	G	GAAGCCCAGACGGAAACCGT[A/G]GCTGCCCTGGTAGGTTTTCT	120407068	NM_000546	18	25	7	16	.	.	.	.	5572	8169	2586	4966	Valid	
P	TP53	SJEWS010370	missense	P128L	N/A	none	NA			D	D	M	Gold		chr17	7578547	G	A	AAAACATCTTGTTGAGGGCA[G/A]GGGAGTACTGTAGGAAGAGG	120407068	NM_000546	10	28	10	19	.	.	.	.	N/A	N/A	N/A	N/A	NoDNA	
P	TP53	SJEWS010375	missense	P222L	rs146340390	none	0.00030755			D	B	M	Gold	PUBMED=20522432	chr17	7578184	G	A	TTGCAAACCAGACCTCAGGC[G/A]GCTCATAGGGCACCACCACA	120407068	NM_000546	23	34	7	17	.	.	.	.	N/A	N/A	N/A	N/A	NoDNA	
P	TP53	SJEWS010425	missense	R290H	rs55819519	none	0.000615101			T	B	L	Gold	PUBMED=10435620	chr17	7577069	C	T	GGTGAGGCTCCCCTTTCTTG[C/T]GGAGATTCTCTTCCTCTGTG	120407068	NM_000546	.	.	.	.	7	15	15	33	N/A	N/A	N/A	N/A	NoDNA	
P	TP53	SJHGG028	nonsense	R196*	N/A	LOH	NA	Yes		T			Gold	PUBMED=7978053	chr17	7578263	G	A	ACGCAAATTTCCTTCCACTC[G/A]GATAAGATGCTGAGGAGGGG	120407068	NM_000546	39	43	13	29	.	.	.	.	11723	12862	5105	11396	Valid	
P	TP53	SJHGG115	missense	R248Q	rs11540652	LOH	0.000153775	Yes	2	D	D	M	Gold	PUBMED=1565143	chr17	7577538	C	T	TGATGGTGAGGATGGGCCTC[C/T]GGTTCATGCCGCCCATGCAG	120407068	NM_000546	.	.	.	.	154	164	124	323	12470	13539	5175	13371	Valid	
P	TP53	SJHYPO004	frameshift	D49fs	N/A	LOH	NA						Gold	PUBMED=23334668	chr17	7579541	TC	-	TTGTTCAATA(TC>--)GTCCGGGGAC	120407068	NM_000546	21	24	11	24	.	.	.	.	3419	3780	899	1873	Valid	
P	TP53	SJHYPO005	missense	G245S	rs28934575	LOH	0.000153775	Yes	2	D	D	M	Gold	PUBMED=1565143	chr17	7577548	C	T	GATGGGCCTCCGGTTCATGC[C/T]GCCCATGCAGGAACTGTTAC	120407068	NM_000546	.	.	.	.	38	51	24	51	6277	8063	3589	7144	Valid	
P	TP53	SJHYPO051	frameshift	G108_R110fs	N/A	LOH	NA						Gold	PUBMED=23334668	chr17	7579359	GGAAA	-	AAGCCCAGAC(GGAAA>-----)CCGTAGCTGC	120407068	NM_000546	15	21	7	23	.	.	.	.	N/A	N/A	N/A	N/A	Putative	
P	TP53	SJHYPO120	missense	R280S	N/A	LOH	NA			D	D	M	Gold	PUBMED=23334668	chr17	7577098	T	A	TCTTCCTCTGTGCGCCGGTC[T/A]CTCCCAGGACAGGCACAAAC	120407068	NM_000546	5	7	15	36	.	.	.	.	7525	8385	2826	6463	Valid	
P	TP53	SJHYPO126	frameshift	I162fs	N/A	LOH	NA						Gold	PUBMED=23334668	chr17	7578444	G	-	ACTGCTTGTA(G>-)ATGGCCATGG	120407068	NM_000546	32	40	14	30	.	.	.	.	7064	9004	5180	12476	Valid	
P	TP53	SJOS001110	frameshift	F109_R110fs	N/A	none	NA						Gold	"PUBMED=9667734,21552135,23580068"	chr17	7579358	CGGA	-	GAAGCCCAGA(CGGA>----)AACCGTAGCT	120407068	NM_000546	13	36	8	21	.	.	.	.	74	830	87	550	Valid	
P	TP53	SJOS001119	missense	R337L	N/A	0.25 copy loss	NA	Yes		D	D	M	Gold	"PUBMED=10864200,20426520"	chr17	7574017	C	A	GCTCTCGGAACATCTCGAAG[C/A]GCTCACGCCCACGGATCTGC	120407068	NM_000546	30	45	15	28	.	.	.	.	4765	6312	2374	4783	Valid	
P	TP53	SJOS006	missense	R337L	N/A	0.5 copy loss	NA	Yes		D	D	M	Gold	"PUBMED=10864200,20426520"	chr17	7574017	C	A	GCTCTCGGAACATCTCGAAG[C/A]GCTCACGCCCACGGATCTGC	120407068	NM_000546	17	28	11	22	.	.	.	.	3451	4895	3540	7035	Valid	
P	TP53	SJRHB003	missense	R175H	rs28934578	LOH	NA	Yes	2	D	P	M	Gold	PUBMED=8164043	chr17	7578406	C	T	AGCGCTCATGGTGGGGGCAG[C/T]GCCTCACAACCTCCGTCATG	120407068	NM_000546	23	23	10	13	.	.	.	.	17152	17400	8671	15505	Valid	
P	TP53	SJRHB039	missense	R248W	rs121912651	LOH	NA	Yes	2	D	D	M	Gold	PUBMED=1978757	chr17	7577539	G	A	GATGGTGAGGATGGGCCTCC[G/A]GTTCATGCCGCCCATGCAGG	120407068	NM_000546	.	.	.	.	46	51	43	79	8535	10397	5009	10059	Valid	
LP	VHL	SJHGG047	missense	R200W	rs28940298	none	0.00030755	Yes		D	D	L	Gold	PUBMED=8956040	chr3	10191605	C	T	ATGTGCAGAAAGACCTGGAG[C/T]GGCTGACACAGGAGCGCATT	4507891	NM_000551	.	.	.	.	91	181	92	148	5747	9948	5027	8879	Valid	
LP	VHL	SJHYPER126	missense	L188V	rs5030824	none	NA	Yes		D	D	M	Gold	PUBMED=7563486	chr3	10191569	C	G	TCAGGTCGCTCTACGAAGAT[C/G]TGGAAGACCACCCAAATGTG	4507891	NM_000551	15	31	14	24	.	.	.	.	2060	3686	2537	4618	Valid	
LB	ALK	SJACT067	missense	G667R	N/A		NA				B	N	Bronze		chr2	29498007	C	T	CTGTCTTGGTGAATTTTCCC[C/T]GGGTTTCAGCTCCTTGTTTG	29029632	NM_004304	14	37	18	33	.	.	.	.	Sanger	Sanger	Sanger	Sanger	Valid	
U	ALK	SJBALL020383	missense	G574R	N/A		NA				D	L	Silver		chr2	29519851	C	T	CATCCTGCCTTGCTCCTTCC[C/T]GGTTTTGTTCTCCACTAGCA	29029632	NM_004304	.	.	.	.	42	80	37	88	2699	5316	2113	4278	Valid	
U	ALK	SJBALL021512	missense	G640R	rs144453491		0.00030755				D	L	Silver		chr2	29498088	C	T	CTGCAGGATCTTGTCCTCTC[C/T]GCTAACTGCAATAGAGAAGA	29029632	NM_004304	.	.	.	.	68	139	61	125	484	935	1697	2876	Valid	
U	ALK	SJBALL021516	missense	E717K	rs147858673		0.00030755				P	M	Silver		chr2	29474026	C	T	GATGCCTTTCAGGGGGCCCT[C/T]GCTCCCCACCTCCACGCTCA	29029632	NM_004304	20	40	12	22	.	.	.	.	1744	3302	2996	5995	Valid	
U	ALK	SJE2A003	missense	V1229M	N/A		NA				D	N	Silver		chr2	29436908	C	T	ACAGGCAATGTCCCGAGCCA[C/T]GTGCAGAAGGTCCAGCATGG	29029632	NM_004304	24	38	13	21	16	38	13	21	1881	3930	1296	2812	Valid	
U	ALK	SJE2A009	missense	K383M	rs140928266		0.000461326				D	N	Silver		chr2	29754787	T	A	GGAGAAGTACTTACCCATGC[T/A]TCCCTGGAGTGGGCATCAGG	29029632	NM_004304	15	33	19	39	.	.	.	.	4735	9954	1735	3347	Valid	
LB	ALK	SJE2A026	missense	A586V	N/A		NA				B	N	Bronze		chr2	29519814	G	A	ACAGGCTCAAGCCTTCATAG[G/A]CGGCGACATGCCAGACCATC	29029632	NM_004304	15	26	14	23	.	.	.	.	1105	2159	3017	5818	Valid	
LB	ALK	SJEPD016	missense	D732N	N/A		NA				B	N	Bronze		chr2	29473981	C	T	CCATACGCACCTGTAGGTGT[C/T]GGTGGCTGGCACCTTCCAGA	29029632	NM_004304	19	29	11	20	.	.	.	.	199	434	696	1712	Valid	
LB	ALK	SJEPD029	missense	P36S	rs201490095		0.000930088				B	N	Bronze		chr2	30143420	G	A	CTCCCGGGGCTGCAGCGGCG[G/A]CCCCGCAGCTGGGGAGCCCG	29029632	NM_004304	9	13	5	14	.	.	.	.	1885	3759	1596	3083	Valid	
U	ALK	SJETV010	missense	V1039M	rs200080181		0.000461326				D	M	Silver		chr2	29448384	C	T	CACGAGGGCAGAGGTCACCA[C/T]AGAGAGGATCAGCGAGAGTG	29029632	NM_004304	21	40	11	23	.	.	.	.	1375	2797	1545	3045	Valid	
LB	ALK	SJETV027	missense	R1061Q	rs72852032		0.000153775				B	N	Bronze		chr2	29446385	C	T	CTTGCAGCTCCTGGTGCTTC[C/T]GGCGGTACACTGCAGGTGGG	29029632	NM_004304	12	31	13	20	.	.	.	.	597	1457	712	1511	Valid	
LB	ALK	SJETV082	missense	E1400D	rs143647372		0.000461467				B	L	Bronze		chr2	29416753	T	G	TCTTCCACAAGTGGACCATA[T/G]TCTATCGGCAAAGCGGTGTT	29029632	NM_004304	14	34	12	23	.	.	.	.	1806	3756	3657	6974	Valid	
LB	ALK	SJEWS010367	missense	A371T	rs149968229		NA				B	N	Bronze		chr2	29754824	C	T	CAGGAGGATCTCTCTTGCAG[C/T]CTCGTTGTGGGGCAGCAGCT	29029632	NM_004304	14	27	13	27	.	.	.	.	N/A	N/A	N/A	N/A	Putative	
LB	ALK	SJEWS010425	missense	F270L	rs143229596		0.000461326				P	N	Bronze		chr2	29917860	A	G	ATACTCCAGCTCACAGGGGA[A/G]GTCAAAGCTGCACTCCAGAC	29029632	NM_004304	.	.	.	.	10	22	8	14	N/A	N/A	N/A	N/A	Putative	
U	ALK	SJHGG041	missense	P40S	rs371679329		0.00015425				D	N	Silver		chr2	30143408	G	A	GTAGCTGAGTGGCTCCCGGG[G/A]CTGCAGCGGCGGCCCCGCAG	29029632	NM_004304	9	19	2	20	.	.	.	.	1545	2746	1160	2201	Valid	
U	ALK	SJHGG056	missense	T1343I	N/A		NA				D	N	Silver		chr2	29420453	G	A	GGTCCATCCGGCCTCCACTG[G/A]TGACAAACTCCAGAACTTCC	29029632	NM_004304	.	.	.	.	58	104	50	112	472	780	1544	2934	Valid	
LB	ALK	SJHGG099	missense	R672S	N/A		NA				B	N	Bronze		chr2	29497990	T	A	GGGTCAAAGATGGGGGTCTG[T/A]CTTGGTGAATTTTCCCCGGG	29029632	NM_004304	.	.	.	.	51	94	30	57	178	368	1545	3231	Valid	
LB	ALK	SJHYPER146	missense	V1358I	N/A		NA				P	N	Bronze		chr2	29420409	C	T	GTTCCTAAAAGAGTCATACA[C/T]AGGCCCAGGGCAGTTCTTGG	29029632	NM_004304	16	36	16	25	.	.	.	.	1019	2037	2384	4369	Valid	
LB	ALK	SJINF001	missense	E1435K	N/A		NA				B	N	Bronze		chr2	29416650	C	T	TGGGGCAGCTGGGCTGCGCT[C/T]CTCCTCCCGTTTTGCCTGTT	29029632	NM_004304	6	10	2	6	.	.	.	.	194	361	2634	5084	Valid	
U	ALK	SJINF005	missense	G1494E	rs368484630		0.000153775			T	P	M	Silver		chr2	29416472	C	T	TGGTGGGCTTGTTTCTGGAT[C/T]CGTGGACCTTGTGCAACTCC	29029632	NM_004304	9	14	11	19	.	.	.	.	2530	5009	3597	7267	Valid	
LB	ALK	SJNBL004	missense	S711R	N/A		NA				B	L	Bronze		chr2	29474044	T	G	CTCGCTCCCCACCTCCACGC[T/G]CAGGTTGGAGTTCTGGTAGG	29029632	NM_004304	20	35	6	19	.	.	.	.	2494	5326	4128	8380	Valid	
LB	ALK	SJNBL044	missense	A309T	rs145681577		0.000461326				B	N	Bronze		chr2	29917743	C	T	CATCTCCTTAGAACGCTCTG[C/T]CCCAGGCCCATCCAGCAAGT	29029632	NM_004304	25	36	13	23	.	.	.	.	5168	7491	2285	4645	Valid	
U	ALK	SJNBL138	missense	P1191H	N/A		NA				D	M	Silver		chr2	29443645	G	T	GCTCCAGCAGGATGAACCGG[G/T]GCAGGGATTGCAGGCTCACC	29029632	NM_004304	.	.	.	.	47	145	40	91	1016	3083	1675	3050	Valid	
LB	ALK	SJNBL199	missense	E1110D	rs140606509		0.000153775				B	L	Bronze		chr2	29446237	C	G	GTGATGTTTTTCCGCGGCAC[C/G]TCCTTCAGGTCACTGATGGA	29029632	NM_004304	15	18	14	31	.	.	.	.	3106	6549	3717	7531	Valid	
U	ALK	SJOS001125	nonsense	R1209*	N/A		NA						Silver		chr2	29443592	G	A	CGGGCGAGGGCGGGTCTCTC[G/A]GAGGAAGGACTTGAGGTCTC	29029632	NM_004304	19	34	10	20	.	.	.	.	2618	5411	2088	4056	Valid	
LB	ALK	SJOS006	missense	P117R	rs201290745		NA				P	N	Bronze		chr2	30143176	G	C	ACAGCGTCCGGGCCTCTGCC[G/C]GGGCTGGTGAACCGGCGGTC	29029632	NM_004304	17	32	9	19	.	.	.	.	1691	3278	1607	3081	Valid	
LB	ALK	SJPHALL020047	missense	G1494R	rs199940609		NA			T	B	L	Bronze		chr2	29416473	C	T	GGTGGGCTTGTTTCTGGATC[C/T]GTGGACCTTGTGCAACTCCG	29029632	NM_004304	18	41	11	22	.	.	.	.	3197	5936	4799	9308	Valid	
U	ALK	SJRHB031	missense	A876V	N/A		NA						Silver		chr2	29451938	G	A	AGCCACCTCCACCACCTGCG[G/A]GAAGAGATAGGGAACCTGCG	29029632	NM_004304	.	.	.	.	42	59	30	62	4073	5960	1193	2564	Valid	
LB	ALK	SJRHB059	splice	E427_E6splice	rs377214413		0.000153775						Silver		chr2	29551352	A	G	GAGCCTGGGGATGTTCCTGG[A/G]GAGCACACAGACACACAACC	29029632	NM_004304	.	.	.	.	43	100	36	67	2601	6376	4172	8925	Valid	
LB	APC	*SJHYPO016	missense	A1670V	rs202228932		0.000153799				B	L	Silver		chr5	112176300	C	T	ATCCCCTCCAAATGAGTTAG[C/T]TGCTGGAGAAGGAGTTAGAG	53759122	NM_000038	.	.	.	.	4	85	45	106	205	1895	1915	3799	Valid	
LB	APC	SJACT012	missense	Q203E	rs141576417		0.000615195			D	P	N	Silver	PUBMED=18433509	chr5	112116562	C	G	TCAGAGTTGCGATGGAAGAA[C/G]AACTAGGTACCTGCCAGGAT	189011566	NM_000038	.	.	.	.	31	65	47	98	741	2127	2795	5798	Valid	
U	APC	SJBALL020828	missense	V1125A	rs377278397		NA			T	B	N	Silver	PUBMED=18199528	chr5	112174665	T	C	TCATGGAATTAATCAAAATG[T/C]AAGCCAGTCTTTGTGTCAAG	53759122	NM_000038	16	42	12	28	.	.	.	.	4659	9186	6655	13255	Valid	
U	APC	SJBALL021434	missense	P2467T	rs372305287		0.000153822				P	L	Silver	PUBMED=18199528	chr5	112178690	C	A	CTTCATTTGAATCTCTTTCT[C/A]CATCATCTAGACCAGCTTCT	53759122	NM_000038	.	.	.	.	36	76	67	149	4377	9629	4161	8040	Valid	
U	APC	SJBALL021896	missense	G2171E	N/A		NA				D	N	Silver		chr5	112177803	G	A	CCCACGAATTCTAAAACCAG[G/A]GGAGAAAAGTACATTGGAAA	53759122	NM_000038	35	65	25	42	.	.	.	.	3881	8156	3117	6379	Valid	
LB	APC	SJCBF001	missense	I1524R	N/A		NA				P	L	Silver		chr5	112175862	T	G	GAAAGATGTGGAATTAAGAA[T/G]AATGCCTCCAGTTCAGGAAA	189011566	NM_000038	15	36	27	44	.	.	.	.	3205	9198	3242	7684	Valid	
U	APC	SJCBF006	missense	A1358T	rs139618756		0.000461396				D	L	Silver		chr5	112175363	G	A	CTGTTGAATTTTCTTCAGGA[G/A]CGAAATCTCCCTCCAAAAGT	189011568	NM_000038	19	47	13	37	.	.	.	.	1746	3389	1380	2826	Valid	
U	APC	SJCBF008	missense	A2008T	N/A		NA				D	L	Silver		chr5	112177313	G	A	AACCTCAAGCATCAGGCTAT[G/A]CTCCTAAATCATTTCATGTT	189011568	NM_000038	20	38	20	44	.	.	.	.	2788	5175	2563	4372	Valid	
U	APC	SJCBF011	missense	P2158R	N/A		NA				D	N	Silver	PUBMED=18199528	chr5	112177764	C	G	ACCTGATCAAGAAGAAAAAC[C/G]CTTTACAAGTAATAAAGGCC	189011566	NM_000038	16	35	13	32	.	.	.	.	3553	7033	3416	6946	Valid	
U	APC	SJCBF013	missense	P2346S	rs200756935		0.000307645				D	L	Silver		chr5	112178327	C	T	CTAACAAATTATCTCAACTT[C/T]CAAGGACATCATCCCCTAGT	189011566	NM_000038	22	39	18	34	.	.	.	.	800	1773	1195	2366	Valid	
U	APC	SJCBF125	missense	T1633I	N/A		NA				P	N	Silver		chr5	112176189	C	T	CCAAAAGCATGTTAGTTTTA[C/T]ACCGGGGGATGATATGCCAC	53759122	NM_000038	.	.	.	.	58	124	67	129	501	1098	865	1862	Valid	
LB	APC	SJCBF142	missense	A2286V	rs200587641		0.000153799				B	N	Bronze		chr5	112178148	C	T	ATCAGAATTAAGCCCTGTTG[C/T]CAGGCAGACATCCCAAATAG	53759122	NM_000038	.	.	.	.	45	116	41	99	531	1232	2154	4077	Valid	
U	APC	SJCBF143	missense	C1962Y	N/A		NA				D	M	Silver		chr5	112177176	G	A	TATTGAAAATACTCCGGTTT[G/A]CTTTTCTCATAATTCCTCTC	53759122	NM_000038	.	.	.	.	47	97	12	31	4647	9989	3654	6766	Valid	
LB	APC	SJE2A038	missense	N2542S	rs151163793		0.000153799				B	L	Bronze		chr5	112178916	A	G	TCCTTCTAGACTTCCAATCA[A/G]TAGGTCAGGAACCTGGAAAC	53759122	NM_000038	23	41	18	33	.	.	.	.	746	1484	2173	4355	Valid	
U	APC	SJE2A065	missense	L826V	rs145245264		0.000768994			T	B	M	Silver		chr5	112173767	T	G	TGACTGTCCTTTCACCATAT[T/G]TGAATACTACAGTGTTACCC	53759122	NM_000038	.	.	.	.	16	32	22	43	349	649	3125	6252	Valid	
U	APC	SJEPD001508	missense	M949I	rs147394539		0.000768994			T	B	N	Silver	PUBMED=18199528	chr5	112174138	G	T	TCAAATAGGACATGTTCTAT[G/T]CCTTATGCCAAATTAGAATA	53759122	NM_000038	.	.	.	.	28	57	34	73	4975	9901	4675	9347	Valid	
LB	APC	SJEPD001529	missense	D1083E	rs201629780		0.000461396			T	B	N	Silver		chr5	112174540	T	G	GTTTATACTGAGAGCACTGA[T/G]GATAAACACCTCAAGTTCCA	53759122	NM_000038	.	.	.	.	20	65	34	60	393	783	1914	3993	Valid	
LB	APC	SJEPD012	missense	S1327L	N/A		NA				B	N	Silver		chr5	112175271	C	T	GAGCGAAGTTCCAGCAGTGT[C/T]ACAGCACCCTAGAACCAAAT	53759122	NM_000038	25	42	18	35	.	.	.	.	4104	7923	1301	2611	Valid	
LB	APC	SJEPD021	missense	Q203E	rs141576417		0.000615195			D	P	N	Silver	PUBMED=18433509	chr5	112116562	C	G	TCAGAGTTGCGATGGAAGAA[C/G]AACTAGGTACCTGCCAGGAT	189011566	NM_000038	25	45	11	34	.	.	.	.	1334	2675	2588	5402	Valid	
LB	APC	SJETV003	missense	E241K	N/A		NA			D	P	L	Bronze		chr5	112128218	G	A	TTTTACAGTCCCAAGCAACA[G/A]AAGCAGAGGTTAGTAAATTG	189011566	NM_000038	29	58	19	39	.	.	.	.	413	747	324	598	Valid	
LB	APC	SJETV032	missense	A415T	N/A		NA			T	B	N	Silver		chr5	112154972	G	A	ATCTTTTGGAACAGATACGC[G/A]CTTACTGTGAAACCTGTTGG	53759122	NM_000038	18	41	16	32	.	.	.	.	2226	4215	2885	5014	Valid	
LB	APC	SJHGG002	missense	E241K	N/A		NA			D	P	L	Bronze		chr5	112128218	G	A	TTTTACAGTCCCAAGCAACA[G/A]AAGCAGAGGTTAGTAAATTG	189011566	NM_000038	16	31	29	58	.	.	.	.	1245	2913	1127	2300	Valid	
LB	APC	SJHGG031	missense	T1160K	rs201004111		0.000461396				P	N	Silver	PUBMED=18199528	chr5	112174770	C	A	TGAAGAAGAAGAGAGACCAA[C/A]AAATTATAGCATAAAATATA	53759122	NM_000038	.	.	.	.	52	89	37	76	5259	10832	4105	10081	Valid	
LB	APC	SJHGG033	missense	D1637E	N/A		NA				B	L	Silver	PUBMED=19279422	chr5	112176202	T	G	AGTTTTACACCGGGGGATGA[T/G]ATGCCACGGGTGTATTGTGT	53759122	NM_000038	21	46	11	24	.	.	.	.	2387	4616	2781	5726	Valid	
U	APC	SJHGG058	missense	T1655A	N/A		NA				D	L	Silver		chr5	112176254	A	G	CTATAAACTTTTCCACAGCT[A/G]CATCTCTAAGTGATCTAACA	53759122	NM_000038	.	.	.	.	30	59	57	101	289	512	1690	3167	Valid	
LB	APC	SJHYPER019	missense	A1879S	N/A		NA				B	L	Bronze		chr5	112176926	G	T	TTGACCTTTCCAGGGAAAAG[G/T]CTGAATTAAGAAAGGCAAAA	53759122	NM_000038	.	.	.	.	21	58	33	62	Sanger	Sanger	Sanger	Sanger	Valid	
U	APC	SJHYPER091	missense	G2520R	N/A		NA				D	L	Silver		chr5	112178849	G	A	CCACTATAGAGTATAATGAT[G/A]GAAGACCAGCAAAGCGCCAT	53759122	NM_000038	21	73	22	39	58	182	74	143	809	2401	2144	4560	Valid	
LB	APC	SJHYPO022	missense	S2797G	rs147287751		0.000461396				B	N	Bronze		chr5	112179680	A	G	CTAGGAAAAGCAGCGCAGAT[A/G]GCACTTCAGCTCGGCCATCT	306922386	NM_000038	26	40	9	18	.	.	.	.	2256	4510	2238	4503	Valid	
LB	APC	SJHYPO026	missense	A1446T	rs146572883		0.000768994				B	N	Silver	PUBMED=18199528	chr5	112175627	G	A	CTCCACCACCTCCTCAAACA[G/A]CTCAAACCAAGCGAGAAGTA	306922386	NM_000038	36	78	18	38	.	.	.	.	4108	7846	5869	10193	Valid	
LB	APC	SJHYPO041	missense	P1934L	N/A		NA				B	L	Silver	PUBMED=18199528	chr5	112177092	C	T	TCAGAAACAATCCACTTTTC[C/T]CCAGTCATCCAAAGACATAC	306922386	NM_000038	.	.	.	.	36	40	35	88	6956	7256	2593	5366	Valid	
U	APC	SJHYPO114	missense	A1358T	rs139618756		0.000461396				D	L	Silver		chr5	112175363	G	A	CTGTTGAATTTTCTTCAGGA[G/A]CGAAATCTCCCTCCAAAAGT	189011568	NM_000038	.	.	.	.	82	187	52	124	2352	4879	1741	3597	Valid	
LB	APC	SJINF021	missense	Q394H	N/A		NA			T	B	L	Silver		chr5	112154911	G	T	CACAACATCATTCACTCACA[G/T]CCTGATGACAAGAGAGGCAG	306922386	NM_000038	9	31	7	20	.	.	.	.	1362	2539	1741	4118	Valid	
U	APC	SJINF061	missense	Y2517C	N/A		NA				D	L	Silver		chr5	112178841	A	G	TCTCAGTCCCACTATAGAGT[A/G]TAATGATGGAAGACCAGCAA	53759122	NM_000038	.	.	.	.	124	226	57	105	984	2350	2590	4976	Valid	
U	APC	SJLGG015	missense	D989G	N/A		NA			T	D	L	Silver		chr5	112174257	A	G	GATTGAATCCTATTCTGAAG[A/G]TGATGAAAGTAAGTTTTGCA	189011566	NM_000038	21	57	9	26	.	.	.	.	2521	4486	4756	8839	Valid	
U	APC	SJMB026	missense	S1126R	rs149353082		NA			T	B	N	Silver	PUBMED=19768578	chr5	112174669	C	G	GGAATTAATCAAAATGTAAG[C/G]CAGTCTTTGTGTCAAGAAGA	189011566	NM_000038	15	31	13	27	.	.	.	.	8605	17763	8063	16483	Valid	
U	APC	SJMB031	missense	D989G	N/A		NA			T	D	L	Silver		chr5	112174257	A	G	GATTGAATCCTATTCTGAAG[A/G]TGATGAAAGTAAGTTTTGCA	189011566	NM_000038	11	39	13	31	.	.	.	.	1231	3254	3477	6651	Valid	
LB	APC	SJNBL006	missense	S1902F	N/A		NA				B	L	Bronze		chr5	112176996	C	T	CAGCCACACAGAACTAACCT[C/T]CAACCAACAATCAGCTAATA	189011566	NM_000038	10	25	14	29	.	.	.	.	485	887	1488	2938	Valid	
LB	APC	SJNBL014	missense	A1446T	rs146572883		0.000768994				B	N	Silver	PUBMED=18199528	chr5	112175627	G	A	CTCCACCACCTCCTCAAACA[G/A]CTCAAACCAAGCGAGAAGTA	306922386	NM_000038	15	28	27	38	.	.	.	.	8944	14376	6963	13544	Valid	
LB	APC	SJNBL175	missense	S130G	rs150973053		0.000307598				B	N	Silver		chr5	112103053	A	G	TTGTAAATGGAAGCAGAGAA[A/G]GTACTGGATATTTAGAAGAA	53759122	NM_000038	.	.	.	.	23	43	40	66	1132	2320	2804	5712	Valid	
LB	APC	SJOS001126	missense	P1986L	N/A		NA				B	L	Silver		chr5	112177248	C	T	CAACAATAAAGAAAATGAAC[C/T]TATCAAAGAGACTGAGCCCC	53759122	NM_000038	28	39	14	32	.	.	.	.	2507	3479	2414	4948	Valid	
LB	APC	SJOS001127	missense	S2044N	rs375743017		0.000307645				D	L	Silver		chr5	112177422	G	A	CCTGTTGCAGGAATGTATAA[G/A]CTCCGCAATGCCAAAAAAGA	53759122	NM_000038	14	57	16	36	.	.	.	.	1746	6089	3119	6219	Valid	
LB	APC	SJOS006	missense	A697V	N/A		NA			T	P	N	Silver		chr5	112173381	C	T	AAATCCTAAAGACCAGGAAG[C/T]ATTATGGGACATGGGGGCAG	306922386	NM_000038	37	58	18	34	.	.	.	.	1168	2445	3787	7473	Valid	
LB	APC	SJPHALL020044	missense	A1879P	N/A		NA				B	L	Bronze		chr5	112176926	G	C	TTGACCTTTCCAGGGAAAAG[G/C]CTGAATTAAGAAAGGCAAAA	53759122	NM_000038	37	60	19	34	33	64	32	63	3516	6735	2180	3875	Valid	
LB	APC	SJPHALL029	missense	D2821G	N/A		NA				B	N	Bronze		chr5	112179753	A	G	GAAGCGAGATTCCAAAACTG[A/G]CAGCACAGAATCCAGTGGAA	53759122	NM_000038	27	47	18	36	.	.	.	.	1409	3887	867	2074	Valid	
U	APC	SJRHB043	missense	K150R	rs371085910		0.000154036			D	P	L	Silver	PUBMED=18199528	chr5	112111352	A	G	GCTTCTTGCTGATCTTGACA[A/G]AGAAGAAAAGGAAAAAGACT	53759122	NM_000038	.	.	.	.	2	11	6	10	1962	4282	1870	3971	Valid	
LB	APC	SJTALL011	missense	P1542R	N/A		NA				B	N	Bronze		chr5	112175916	C	G	TGAAACAGAATCAGAGCAGC[C/G]TAAAGAATCAAATGAAAACC	189011568	NM_000038	22	34	16	29	.	.	.	.	183	334	3006	9645	Valid	
LB	APC	SJTALL078	missense	S2497L	rs141010008		0.000461396				B	N	Bronze		chr5	112178781	C	T	TATGTCTCTATCCACACATT[C/T]GTCTGTTCAGGCTGGTGGAT	53759122	NM_000038	.	.	.	.	63	123	57	102	Sanger	Sanger	Sanger	Sanger	Valid	
U	BMPR1A	SJBALL020570	missense	T280S						D	D	L	Silver		chr10	88677054	C	G	AGAAACAGAAATCTACCAAA[C/G]TGTGCTAATGCGCCATGAAA	41349437	NM_004329	23	40	6	25	.	.	.	.						
LB	BRCA1	*SJHYPO045	missense	R1028H	rs80357459		NA			T	B	N	Silver		chr17	41244465	C	T	CATTTTCTCTAATGTTATTA[C/T]GGCTAATTGTGCTCACTGTA	237681119	NM_007300	.	.	.	.	3	206	124	239	328	9348	3310	6538	Valid	
LB	BRCA1	SJAMLM7069	missense	L668F	rs80357250		NA			T	P	M	Silver		chr17	41245546	G	A	AGGTTCTTTACCTTCCATGA[G/A]TTGTAGGTTTCTGCTGTGCC	237681119	NM_007300	.	.	.	.	37	77	27	61	2732	5564	2383	4927	Valid	
LB	BRCA1	SJBALL021372	missense	T826K	rs28897683		0.000461326			D	P	M	Silver	PUBMED=7837387	chr17	41245071	G	T	ATGGATACTTAAAGCCTTCT[G/T]TGTCATTTCTATTATCTTTG	237681119	NM_007300	.	.	.	.	29	69	52	116	1623	3743	1720	3446	Valid	
LB	BRCA1	SJBALL021897	missense	L63F	rs80356956		NA			D	D	L	Silver		chr17	41258496	T	A	TTGGTTATATCATTCTTACA[T/A]AAAGGACACTGTGAAGGCCC	237681119	NM_007300	36	60	22	42	.	.	.	.	1764	3771	955	2216	Valid	
LB	BRCA1	SJCBF026	missense	D1567N	rs28897691		0.00030755			T	P	N	Silver		chr17	41226387	C	T	GTAAGATGTTTCCGTCAAAT[C/T]GTGTGGCCCAGACTCTTCCA	237681119	NM_007300	17	47	6	23	.	.	.	.	3772	7416	3329	6533	Valid	
LB	BRCA1	SJCBF121	missense	K1254E	rs80357362		NA			T	B	L	Silver		chr17	41243788	T	C	TAAATTCTCCTCTGTGTTCT[T/C]AGACAGACACTCGGTAGCAA	237681119	NM_007300	.	.	.	.	60	121	74	140	2880	5913	2849	5921	Valid	
U	BRCA1	SJE2A011	missense	D1152N	rs80357175		NA			T	B	M	Silver		chr17	41244094	C	T	TTCACCATCATCTAACAGGT[C/T]ATCAGGTGTCTCAGAACAAA	237681119	NM_007300	32	66	12	29	.	.	.	.	3671	7274	3090	6312	Valid	
U	BRCA1	SJE2A014	proteinDel	S615del	N/A		NA						Silver	PUBMED=11183185	chr17	41245703	AGA	-	GCCTGGTAGA(AGA>---)CTTCCTCCTC	237681119	NM_007300	25	102	16	46	.	.	.	.	2117	6428	721	2640	Valid	
LB	BRCA1	SJE2A016	missense	L1585P	rs56119278		0.000922651			T	P	N	Silver	PUBMED=10480351	chr17	41223240	A	G	AGAGGCTGATTCCAGATTCC[A/G]GGTAAGGGGTTCCCTCTGAA	237681119	NM_007300	26	52	9	27	.	.	.	.	1910	3843	1579	3259	Valid	
LB	BRCA1	SJEPD001528	missense	D411E	rs80357024		0.00030755			T	B	N	Silver		chr17	41246315	A	C	TCATTTAGAACGTCCAATAC[A/C]TCAGCTACTTTGGCATTTGA	237681119	NM_007300	.	.	.	.	52	115	52	101	1841	3937	2301	4617	Valid	
U	BRCA1	SJEPD016	missense	S615F	N/A		NA			D	P	M	Silver		chr17	41245704	G	A	CATGAATATGCCTGGTAGAA[G/A]ACTTCCTCCTCAGCCTATTC	237681119	NM_007300	14	34	26	43	.	.	.	.	576	1669	866	2124	Valid	
U	BRCA1	SJEPD027	missense	P698L	N/A		NA			D	D	M	Silver		chr17	41245455	G	A	CATTTGTTAACTTCAGCTCT[G/A]GGAAAGTATCGCTGTCATGT	237681119	NM_007300	38	59	20	38	.	.	.	.	4553	6736	3343	6702	Valid	
U	BRCA1	SJEPD035	proteinDel	S615del	N/A		NA						Silver	PUBMED=11183185	chr17	41245703	AGA	-	GCCTGGTAGA(AGA>---)CTTCCTCCTC	237681119	NM_007300	34	103	16	57	.	.	.	.	2652	8467	2049	6684	Valid	
LB	BRCA1	SJETV093	missense	A1082S	N/A		NA			T	P	L	Bronze		chr17	41244304	C	A	AACCCCTAATCTAAGCATAG[C/A]ATTCAATTTTGGCCCTCTGT	237681119	NM_007300	34	57	13	25	.	.	.	.	6892	13877	6935	13205	Valid	
U	BRCA1	SJHGG048	missense	K862E	rs80356927		NA			D	D	M	Silver		chr17	41244964	T	C	TGACTGGCGCTTTGAAACCT[T/C]GAATGTATTCTGCAAATACT	237681119	NM_007300	.	.	.	.	25	56	46	85	2557	5818	2873	5647	Valid	
LB	BRCA1	SJHGG062	missense	V772A	rs80357467		0.00030755			D	P	M	Silver	PUBMED=7894491	chr17	41245233	A	G	TGCCATAATCAGTACCAGGT[A/G]CCAATGAAATACTGCTACTC	237681119	NM_007300	.	.	.	.	32	68	20	36	3405	7816	5904	12067	Valid	
B	BRCA1	SJHGG074	missense	R866C	rs41286300		NA			D	D	M	Silver	PUBMED=12505256	chr17	41244952	G	A	AAACGGAGCAAATGACTGGC[G/A]CTTTGAAACCTTGAATGTAT	237681119	NM_007300	.	.	.	.	37	88	24	53	5251	9052	7019	11740	Valid	
LB	BRCA1	SJHGG107	missense	I1275V	rs80357280		0.000153775			T	B	L	Silver		chr17	41243725	T	C	CTGAGATGCCTTTGCCAATA[T/C]TACCTGGTTACTGCAGTCAT	237681119	NM_007300	.	.	.	.	38	71	52	106	4227	8636	3989	8572	Valid	
LB	BRCA1	SJHYPER022	missense	T1571I	rs80357076		NA			D	B	N	Silver		chr17	41226374	G	A	CTTGCCTTGGCAAGTAAGAT[G/A]TTTCCGTCAAATCGTGTGGC	237681119	NM_007300	52	86	26	44	38	70	38	82	5093	7878	3569	6773	Valid	
LB	BRCA1	SJHYPER121	missense	V1181I	rs56336919		NA			T	B	L	Silver		chr17	41244007	C	T	GCTAAGCTCTCCTTTCTGGA[C/T]GCTTTTGCTAAAAACAGCAG	237681119	NM_007300	24	51	17	32	.	.	.	.	2725	7520	3278	6231	Valid	
LB	BRCA1	SJHYPO124	missense	M1008I	rs1800704		0.000922651			T	B	N	Silver		chr17	41244524	C	T	CCCATTTCTCTTTCAGGTGA[C/T]ATTGAATGTTCCTCAAAGTT	237681119	NM_007300	.	.	.	.	50	52	22	47	7901	8352	3717	6473	Valid	
U	BRCA1	SJINF014	missense	Q1200H	rs56214134		NA			D	B	M	Silver		chr17	41243948	C	A	TTGGCCCCTCTTCGGTAACC[C/A]TGAGCCAAATGTGTATGGGT	237681119	NM_007300	15	32	22	44	.	.	.	.	3467	6787	2047	4120	Valid	
U	BRCA1	SJINF020	missense	E597K	rs55650082		0.00061529			T	D	M	Silver		chr17	41245759	C	T	TGAATTGTGGATATTTAATT[C/T]GAGTTCCATATTGCTTATAC	237681119	NM_007300	23	40	21	47	.	.	.	.	5400	11203	3585	6949	Valid	
U	BRCA1	SJLGG010	missense	L246V	rs28897675		0.000461326			T	D	L	Silver	"PUBMED=15300854,15307796"	chr17	41246812	A	C	ACGCTTCTCAGTGGTGTTCA[A/C]ATCATTATTACTGGGTTGAT	237681119	NM_007300	20	43	15	34	.	.	.	.	1880	3045	1220	2026	Valid	
U	BRCA1	SJLGG034	missense	S782G	N/A		NA			D	P	M	Silver		chr17	41245204	T	C	AACTTCCAGTAACGAGATAC[T/C]TTCCTGAGTGCCATAATCAG	237681119	NM_007300	25	47	13	33	.	.	.	.	1350	2806	4627	8932	Valid	
LB	BRCA1	SJMB002	missense	T1349M	rs80357345		0.000153775			D	P	L	Silver		chr17	41243502	G	A	GATTATTTTCTTCCAAGCCC[G/A]TTCCTCTTTCTTCATCATCT	237681119	NM_007300	19	34	14	25	.	.	.	.	3193	6017	1923	3661	Valid	
LB	BRCA1	SJMB011	missense	V772A	rs80357467		0.00030755			D	P	M	Silver	PUBMED=7894491	chr17	41245233	A	G	TGCCATAATCAGTACCAGGT[A/G]CCAATGAAATACTGCTACTC	237681119	NM_007300	20	60	19	36	.	.	.	.	1897	10147	5243	11023	Valid	
U	BRCA1	SJNBL033	missense	H41N	N/A		NA			D	D	H	Silver		chr17	41267756	G	T	AACTTACTTGCAAAATATGT[G/T]GTCACACTTTGTGGAGACAG	237681119	NM_007300	26	64	22	37	.	.	.	.	17	107	876	1735	Valid	
U	BRCA1	SJNBL046	missense	L246V	rs28897675		0.000461326			T	D	L	Silver	"PUBMED=15300854,15307796"	chr17	41246812	A	C	ACGCTTCTCAGTGGTGTTCA[A/C]ATCATTATTACTGGGTTGAT	237681119	NM_007300	16	54	14	23	.	.	.	.	1381	3253	1662	3072	Valid	
LB	BRCA1	SJNBL162	missense	E787K	N/A		NA			D	P	M	Silver		chr17	41245189	C	T	CTTCCCTAGAGTGCTAACTT[C/T]CAGTAACGAGATACTTTCCT	237681119	NM_007300	.	.	.	.	39	73	29	48	556	1185	3570	7383	Valid	
U	BRCA1	SJNBL177	missense	G275D	N/A		NA	Yes		D	D	H	Silver	PUBMED=12624724	chr17	41246724	C	T	AGCTGGCATGAGTATTTGTG[C/T]CACATGGCTCCACATGCAAG	237681119	NM_007300	.	.	.	.	147	199	39	91	2386	3727	2745	5253	Valid	
LB	BRCA1	SJOS001127	missense	L1585P	rs56119278		0.000922651			T	P	N	Silver	PUBMED=10480351	chr17	41223240	A	G	AGAGGCTGATTCCAGATTCC[A/G]GGTAAGGGGTTCCCTCTGAA	237681119	NM_007300	18	51	11	32	.	.	.	.	956	3295	1018	2163	Valid	
LB	BRCA1	SJPHALL018	missense	Y856H	rs80356892		0.000153775			D	P	M	Silver	PUBMED=9510469	chr17	41244982	A	G	CTTGAATGTATTCTGCAAAT[A/G]CTGAGCATCAAGTTCACTTT	237681119	NM_007300	27	52	16	38	.	.	.	.	1872	5263	1399	3270	Valid	
LB	BRCA1	SJRB016	missense	E902D	N/A		NA			T	P	L	Bronze		chr17	41244842	T	G	TTTTCTTCCTTTTGTTCACA[T/G]TCAAAAGTGACTTTTGGACT	237681119	NM_007300	39	68	12	22	.	.	.	.	1763	3532	5238	10826	Valid	
U	BRCA1	SJTALL001	missense	I42L	N/A		NA			D	P	N	Silver		chr17	41267753	T	G	TCAAACTTACTTGCAAAATA[T/G]GTGGTCACACTTTGTGGAGA	237681119	NM_007300	10	32	16	29	.	.	.	.	1360	2820	1120	2363	Valid	
LB	BRCA1	SJTALL071	missense	V1247I	rs80357191		0.000153775			T	B	N	Silver		chr17	41243809	C	T	AGACAGACACTCGGTAGCAA[C/T]GGTGCTATGCCTAGTAGACT	237681119	NM_007300	.	.	.	.	44	96	74	141	5383	9553	4901	9669	Valid	
U	BRCA2	*SJHYPO045	missense	Y2789C	N/A		NA			D	D	L	Silver		chr13	32944573	A	G	TACTCGGCCTGCTCGCTGGT[A/G]TACCAAACTTGGATTCTTTC	119395734	NM_000059	.	.	.	.	12	244	106	219	74	3389	2150	4590	Valid	
LB	BRCA2	*SJOS001106	missense	S1722C	rs80358741		NA			T	B	L	Silver		chr13	32913656	A	T	TGTATGAAAATAATTCAAAC[A/T]GTACTATAGCTGAAAATGAC	119395734	NM_000059	3	68	25	40	.	.	.	.	87	1145	887	1608	Valid	
LB	BRCA2	SJACT026	missense	S976T	rs144862123		NA			T	B	N	Silver		chr13	32911418	T	A	AAGATTTAAAATCGGACATC[T/A]CCTTGAATATAGATAAAATA	119395734	NM_000059	.	.	.	.	20	39	16	48	196	388	421	814	Valid	
U	BRCA2	SJBALL020704	missense	I180T	rs80358761		NA			D	D	M	Silver		chr13	32900658	T	C	TCGTCAGACACCAAAACATA[T/C]TTCTGAAAGTCTAGGAGCTG	119395734	NM_000059	38	72	17	33	.	.	.	.	1977	3773	1903	3653	Valid	
U	BRCA2	SJBALL021324	missense	G2274V	rs55712212		NA			T	D	M	Silver		chr13	32915313	G	T	AAGAATTGGAAAAAGAAGAG[G/T]AGAGCCCCTTATCTTAGTGG	119395734	NM_000059	.	.	.	.	40	67	19	37	2991	5315	2573	4497	Valid	
U	BRCA2	SJBALL021514	missense	R2973H	rs80359143		0.00030755			T	D	M	Silver		chr13	32953617	G	A	CACAACCGTGTGGAAGTTGC[G/A]TATTGTAAGCTATTCAAAAA	119395734	NM_000059	.	.	.	.	31	47	31	53	2276	4171	1579	2841	Valid	
U	BRCA2	SJCBF003	missense	D596H	rs56328701		0.000769231			D	D	M	Silver	PUBMED=17513806	chr13	32907401	G	C	AGTTTATTTATGCTATACAT[G/C]ATGAAACATCTTATAAAGGA	119395734	NM_000059	18	38	16	33	.	.	.	.	1975	3664	1132	2124	Valid	
U	BRCA2	SJCBF092	missense	F1524V	rs56386506		0.000153775			D	D	M	Silver		chr13	32913062	T	G	AAGAACCTACTCTATTGGGT[T/G]TTCATACAGCTAGCGGGAAA	119395734	NM_000059	.	.	.	.	87	183	69	151	2567	5185	2122	4539	Valid	
U	BRCA2	SJCBF105	missense	R1677I	rs375304428		0.000154226			D	B	L	Silver		chr13	32913522	G	T	TTTTTACACAAGTTGTAGTA[G/T]AAAAACTTCTGTGAGTCAGA	119395734	NM_000059	.	.	.	.	65	134	45	107	831	1674	4656	9393	Valid	
U	BRCA2	SJCBF109	missense	S489C	N/A		NA			D	D	L	Silver		chr13	32907081	C	G	TGCAGTAAAGCAGGCAATAT[C/G]TGGAACTTCTCCAGTGGCTT	119395734	NM_000059	.	.	.	.	62	116	48	77	6307	12796	6049	12694	Valid	
LB	BRCA2	SJCBF110	missense	K3257R	rs55847618		0.000461326			T	B	N	Silver		chr13	32972420	A	G	AAAGTCTTGTAAAGGGGAGA[A/G]AGAGATTGATGACCAAAAGA	119395734	NM_000059	.	.	.	.	25	53	42	88	Sanger	Sanger	1618	3384	Valid	
U	BRCA2	SJCBF142	missense	R1997G	N/A		NA			D	D	M	Silver		chr13	32914481	A	G	ATGCTTCATTACAAAACGCA[A/G]GACAAGTGTTTTCTGAAATA	119395734	NM_000059	.	.	.	.	85	85	70	71	9328	9350	4323	4337	Valid	
U	BRCA2	SJERG006	missense	K169R	rs80358730		NA			D	B	M	Silver		chr13	32900409	A	G	GAGTTTGTTTCATACACCAA[A/G]GTTTGTGAAGGTAAATATTC	119395734	NM_000059	40	70	18	38	.	.	.	.	1025	1965	920	1697	Valid	
LB	BRCA2	SJERG007	missense	T3211K	N/A		NA	Yes		T	B	N	Bronze		chr13	32971165	C	A	TGCTCAAATCATTCCTGGTA[C/A]AGGAAACAAGCTTCTGGTAA	119395734	NM_000059	.	.	.	.	13	33	36	60	3833	7842	3431	7459	Valid	
LB	BRCA2	SJERG009	missense	T544I	rs80358448		0.000153775			T	B	L	Silver		chr13	32907246	C	T	AAGTGGACTGGAAATACATA[C/T]TGTTTGCTCACAGAAGGAGG	119395734	NM_000059	25	53	20	43	.	.	.	.	1952	3561	1761	3229	Valid	
LB	BRCA2	SJERG020299	missense	L2396F	N/A		NA			T	P	L	Silver		chr13	32929178	G	T	AATGAAAAAATGAGACACTT[G/T]ATTACTACAGGCAGACCAAC	119395734	NM_000059	26	56	14	36	.	.	.	.	559	1220	1403	2804	Valid	
U	BRCA2	SJERG022	missense	G2793R	rs80359082		NA			D	D	M	Silver	PUBMED=23233716	chr13	32944584	G	A	CTCGCTGGTATACCAAACTT[G/A]GATTCTTTCCTGACCCTAGA	119395734	NM_000059	.	.	.	.	46	106	50	103	7078	14338	6092	12042	Valid	
LB	BRCA2	SJETV045	missense	N900D	rs55736268		NA			T	P	N	Silver		chr13	32911190	A	G	AAGTAGCTAATGAAAGGAAT[A/G]ATCTTGCTTTAGGAAATACT	119395734	NM_000059	31	72	13	33	.	.	.	.	3284	6727	2811	5622	Valid	
LB	BRCA2	SJETV047	missense	L2106P	rs56172926		0.000307645			T	B	N	Silver		chr13	32914809	T	C	ACAAAATGTATCAAAAATAC[T/C]TCCTCGTGTTGATAAGAGAA	119395734	NM_000059	20	44	11	31	.	.	.	.	3833	7362	2747	5532	Valid	
LB	BRCA2	SJETV083	missense	Y296C	rs45457795		NA			T	B	N	Silver		chr13	32906502	A	G	TGTCCTAGAAGATGAAGTAT[A/G]TGAAACAGTTGTAGATACCT	119395734	NM_000059	18	43	28	59	.	.	.	.	2159	4390	1286	2511	Valid	
LB	BRCA2	SJEWS010367	missense	V2739I	rs80359069		NA			T	B	N	Silver		chr13	32937554	G	A	TAGATCCTCCCCTCTTAGCT[G/A]TCTTAAAGAATGGCAGACTG	119395734	NM_000059	12	29	16	23	.	.	.	.	N/A	N/A	N/A	N/A	Putative	
U	BRCA2	SJHYPER113	missense	G1529R	rs28897728		0.000922651			D	D	M	Silver	PUBMED=11873550	chr13	32913077	G	A	TGGGTTTTCATACAGCTAGC[G/A]GGAAAAAAGTTAAAATTGCA	119395734	NM_000059	23	45	18	35	.	.	.	.	1932	3902	1924	3833	Valid	
LB	BRCA2	SJHYPER121	missense	G3153A	rs80359220		NA			T	B	N	Silver		chr13	32969027	G	C	TTCTGCTAGTCCAAAAGAGG[G/C]CCACTTTCAAGAGACATTCA	119395734	NM_000059	17	40	15	36	.	.	.	.	1841	4035	1931	4180	Valid	
U	BRCA2	SJHYPO120	missense	T665A	rs144192844		0.000153799			T	P	M	Silver		chr13	32910485	A	G	CCTTAACTAGCTCTTTTGGG[A/G]CAATTCTGAGGAAATGTTCT	119395734	NM_000059	26	61	26	44	.	.	.	.	1245	2482	1594	3261	Valid	
U	BRCA2	SJLGG003	missense	G2813E	rs80359092		NA			D	D	M	Silver		chr13	32944645	G	A	ATCGCTTTTCAGTGATGGAG[G/A]AAATGTTGGTTGTGTTGATG	119395734	NM_000059	19	37	14	40	.	.	.	.	1393	2603	1383	2971	Valid	
U	BRCA2	SJLGG018	missense	E1046G	rs80358559		NA			D	D	M	Silver	PUBMED=23633455	chr13	32911629	A	G	TACTAGTTTAGCTTGTGTTG[A/G]AATTGTAAATACCTTGGCAT	119395734	NM_000059	23	43	19	29	.	.	.	.	2347	4745	2569	5268	Valid	
LB	BRCA2	SJLGG020	missense	N108H	rs80358567		0.000922651			D	B	L	Silver		chr13	32899218	A	C	ATTGTACTGTTTCAGGAAGG[A/C]ATGTTCCCAATAGTAGACAT	119395734	NM_000059	19	40	8	20	.	.	.	.	3198	6827	2561	5260	Valid	
LB	BRCA2	SJLGG025	missense	S976T	rs144862123		NA			T	B	N	Silver		chr13	32911418	T	A	AAGATTTAAAATCGGACATC[T/A]CCTTGAATATAGATAAAATA	119395734	NM_000059	24	64	22	47	.	.	.	.	364	878	2188	4594	Valid	
LB	BRCA2	SJMB004	missense	H1223Y	N/A		NA			T	P	N	Bronze		chr13	32912159	C	T	TTAGGGGCTTTTATTCTGCT[C/T]ATGGCACAAAACTGAATGTT	119395734	NM_000059	33	47	8	23	.	.	.	.	180	533	1817	3808	Valid	
LB	BRCA2	SJMB016	missense	D1699N	rs80358731		NA			T	B	L	Silver		chr13	32913587	G	A	GGCTTAGAGAAGGAATATTT[G/A]ATGGTCAACCAGAAAGAATA	119395734	NM_000059	21	52	12	39	.	.	.	.	2455	7396	2164	4306	Valid	
LB	BRCA2	SJMB016	missense	V2739I	rs80359069		NA			T	B	N	Silver		chr13	32937554	G	A	TAGATCCTCCCCTCTTAGCT[G/A]TCTTAAAGAATGGCAGACTG	119395734	NM_000059	30	43	11	21	.	.	.	.	3348	4800	2086	4149	Valid	
LB	BRCA2	SJMB031	missense	S976T	rs144862123		NA			T	B	N	Silver		chr13	32911418	T	A	AAGATTTAAAATCGGACATC[T/A]CCTTGAATATAGATAAAATA	119395734	NM_000059	33	57	13	36	.	.	.	.	1562	2649	1956	4121	Valid	
U	BRCA2	SJMB032	missense	T3371A	rs80358393		NA			T	B	M	Silver		chr13	32972761	A	G	CTGTCAGTGAATCCACTAGG[A/G]CTGCTCCCACCAGTTCAGAA	119395734	NM_000059	17	25	15	25	.	.	.	.	1875	3862	1619	3188	Valid	
LB	BRCA2	SJMLL010	missense	S976T	rs144862123		NA			T	B	N	Silver		chr13	32911418	T	A	AAGATTTAAAATCGGACATC[T/A]CCTTGAATATAGATAAAATA	119395734	NM_000059	.	.	.	.	83	174	79	160	730	1711	956	2004	Valid	
B	BRCA2	SJNBL015	missense	Y3098H	rs41293521		NA			T	B	N	Silver	PUBMED=9150172	chr13	32968861	T	C	TCTATTTGTCAGACGAATGT[T/C]ACAATTTACTGGCAATAAAG	119395734	NM_000059	23	52	28	59	.	.	.	.	4885	9562	4243	8553	Valid	
LB	BRCA2	SJNBL016	missense	S2704F	rs80359054		0.00030755			D	D	M	Silver	PUBMED=11389159	chr13	32937450	C	T	CGCAAATATATCTGAAACTT[C/T]TAGCAATAAAACTAGTAGTG	119395734	NM_000059	16	35	21	49	.	.	.	.	4892	9926	4547	9390	Valid	
U	BRCA2	SJNBL016	missense	T2097M	rs80358866		0.000307692			T	P	M	Silver		chr13	32914782	C	T	TAGTCTTCACTATTCACCTA[C/T]GTCTAGACAAAATGTATCAA	119395734	NM_000059	13	30	28	47	.	.	.	.	4642	8992	7037	12875	Valid	
LB	BRCA2	SJNBL025	missense	S2704F	rs80359054		0.00030755			D	D	M	Silver	PUBMED=11389159	chr13	32937450	C	T	CGCAAATATATCTGAAACTT[C/T]TAGCAATAAAACTAGTAGTG	119395734	NM_000059	42	63	20	36	.	.	.	.	6927	10672	8853	17190	Valid	
U	BRCA2	SJNBL142	missense	I1034T	N/A		NA			D	D	L	Silver		chr13	32911593	T	C	CAAAATGTTCTTCAAAGATA[T/C]TGAAGAACAATATCCTACTA	119395734	NM_000059	.	.	.	.	25	58	40	70	4066	7976	2854	5386	Valid	
LB	BRCA2	SJNBL154	missense	N319T	rs55939572		NA			T	P	L	Silver		chr13	32906571	A	C	TTCTAAATGTAGAACAAAAA[A/C]TCTACAAAAAGTAAGAACTA	119395734	NM_000059	.	.	.	.	28	68	36	75	1968	3517	1820	3354	Valid	
B	BRCA2	SJNBL184	missense	L1019V	rs55638633		0.000307787			T	B	N	Silver	PUBMED=12845657	chr13	32911547	C	G	CTTCAAATAAGGAAATCAAG[C/G]TCTCTGAACATAACATTAAG	119395734	NM_000059	.	.	.	.	78	145	101	194	3861	7454	3890	7738	Valid	
U	BRCA2	SJOS001104	missense	S1134T	N/A		NA			D	P	M	Silver		chr13	32911893	G	C	TACTCAGTTTAGAAAACCAA[G/C]CTACATATTGCAGAAGAGTA	119395734	NM_000059	23	56	31	54	.	.	.	.	3025	10336	6803	12936	Valid	
LB	BRCA2	SJOS001117	missense	C1960Y	rs56157628		0.000922793			T	B	N	Silver		chr13	32914371	G	A	AACTTCAGATATATGTAAAT[G/A]TAGTATAGGGAAGCTTCATA	119395734	NM_000059	8	41	20	41	.	.	.	.	118	2383	1234	3171	Valid	
U	BRCA2	SJOS001123	proteinDel	S3018_K3019del	N/A		NA						Silver		chr13	32953985	AGTAAA	-	AAAATCTAAA(AGTAAA>------)TCTGAAAGAG	119395734	NM_000059	29	38	13	34	.	.	.	.	1818	2926	769	2744	Valid	
B	BRCA2	SJPHALL005	frameshift	S3366fs	N/A		NA						Gold		chr13	32972747	-	ATTATATCTA	ATATCTGTCA(---------->ATTATATCTA)GTGAATCCAC	119395734	NM_000059	26	57	13	27	.	.	.	.	Sanger	Sanger	Sanger	Sanger	Valid	
U	BRCA2	SJPHALL018	missense	M1149V	rs80358589		0.000615101			T	B	L	Silver	PUBMED=22126563	chr13	32911937	A	G	TTGAAGTGCCTGAAAACCAG[A/G]TGACTATCTTAAAGACCACT	119395734	NM_000059	30	52	24	52	.	.	.	.	1488	3379	1088	2134	Valid	
U	BRCA2	SJPHALL020041	missense	D596H	rs56328701		0.000769231			D	D	M	Silver	PUBMED=17513806	chr13	32907401	G	C	AGTTTATTTATGCTATACAT[G/C]ATGAAACATCTTATAAAGGA	119395734	NM_000059	22	49	20	36	.	.	.	.	1737	3366	1835	3487	Valid	
LB	BRCA2	SJPHALL020047	missense	D1699N	rs80358731		NA			T	B	L	Silver		chr13	32913587	G	A	GGCTTAGAGAAGGAATATTT[G/A]ATGGTCAACCAGAAAGAATA	119395734	NM_000059	27	61	17	30	34	64	23	54	2895	6676	3408	6056	Valid	
LB	BRCA2	SJRHB002	missense	T1155A	N/A		NA			T	B	L	Bronze		chr13	32911955	A	G	AGATGACTATCTTAAAGACC[A/G]CTTCTGAGGAATGCAGAGAT	119395734	NM_000059	20	38	11	23	.	.	.	.	3590	7636	2779	5982	Valid	
LB	BRCA2	SJTALL003	missense	S976T	rs144862123		NA			T	B	N	Silver		chr13	32911418	T	A	AAGATTTAAAATCGGACATC[T/A]CCTTGAATATAGATAAAATA	119395734	NM_000059	26	50	17	32	.	.	.	.	2080	4389	1037	2126	Valid	
LB	BRCA2	SJTALL067	missense	S976T	rs144862123		NA			T	B	N	Silver		chr13	32911418	T	A	AAGATTTAAAATCGGACATC[T/A]CCTTGAATATAGATAAAATA	119395734	NM_000059	.	.	.	.	33	75	44	104	1554	3435	1924	3760	Valid	
LB	BRCA2	SJTALL071	missense	Q754E	N/A		NA			T	B	L	Silver		chr13	32910752	C	G	AATACAGTGATACTGACTTT[C/G]AATCCCAGAAAAGTCTTTTA	119395734	NM_000059	.	.	.	.	26	68	38	96	2740	5557	2719	5507	Valid	
U	CBL	SJBALL239	missense	R563C						D	D	L	Silver		chr11	119156022	C	T	CAGAATCCCGACCTCAAAGA[C/T]GCCCCTTGCCTTGTACACCA	52426745	NM_005188	32	49	11	19	.	.	.	.						
U	CBL	SJETV025	missense	R788Q	rs150811339		0.000615953			D	D	L	Silver		chr11	119169179	G	A	GCCGGCCGTGCTGGCCCGCC[G/A]AACTCTCTCAGATATCTCTA	52426745	NM_005188	16	42	17	35	.	.	.	.						
U	CBL	SJHGG033	missense	P566A						T	D	L	Silver		chr11	119156031	C	G	GACCTCAAAGACGCCCCTTG[C/G]CTTGTACACCAGGCGACTGT	52426745	NM_005188	17	36	12	20	.	.	.	.						
U	CBL	SJNBL001	missense	R617L						D	D	L	Silver		chr11	119156185	G	T	AGGAAGAGAATTAACCAACC[G/T]GCACTCACTTCCATTTTCAT	52426745	NM_005188	3	29	13	39	.	.	.	.						
U	CBL	SJPHALL020037	missense	G773W						D	D	L	Silver		chr11	119169133	G	T	AGTCAGAAAATGAGGATGAT[G/T]GGTATGATGTCCCAAAGCCA	52426745	NM_005188	11	22	11	18	.	.	.	.						
U	CDC73	SJCBF013	missense	V445I			0.000461326			T	D	M	Silver		chr1	193205402	G	A	GTAGGGACCGCGTTGTAGCC[G/A]TTTTTGTGCAGGGTCCTGCA	40018640	NM_024529	24	46	15	33	.	.	.	.						
U	CDH1	SJBALL021893	missense	T470I	rs370864592					D	D	M	Silver		chr16	68849506	C	T	GGTCTCTCTCACCACCTCCA[C/T]AGCCACCGTCACCGTGGATG	4757960	NM_004360	15	44	27	46	.	.	.	.						
U	CDH1	SJEPD031	missense	R224H	rs201511530					T	B	N	Silver		chr16	68842735	G	A	AGAGCCTCTGGATAGAGAAC[G/A]CATTGCCACATACACTGTAA	4757960	NM_004360	26	60	12	25	.	.	.	.						
U	CDH1	SJERG006	missense	T562A						T	B	M	Silver		chr16	68853301	A	G	ACGTGAAGAACAGCACGTAC[A/G]CAGCCCTAATCATAGCTACA	4757960	NM_004360	20	46	16	38	.	.	.	.						
U	CDH1	SJHYPER006	missense	A298T	rs142822590		0.000307787			T	D	M	Silver	PUBMED=15235021	chr16	68845646	G	A	ATGATGTGAACACCTACAAT[G/A]CCGCCATCGCTTACACCATC	4757960	NM_004360	18	35	16	26	18	53	21	38						
U	CDH1	SJHYPO013	missense	D433G	rs376097289					D	P	M	Silver		chr16	68847376	A	G	CACAAATCCAGTGAACAACG[A/G]TGGCATTTTGAAAACAGCAA	4757960	NM_004360	1	29	13	23	.	.	.	.						
U	CDH1	SJHYPO123	missense	D777N	rs372989292		0.000153894			T	D	M	Silver		chr16	68863590	G	A	GCCAGCTGCACAGGGGCCTG[G/A]ACGCTCGGCCTGAAGTGACT	4757960	NM_004360	30	36	15	26	.	.	.	.						
U	CDH1	SJMB036	missense	R774G						D	D	L	Silver		chr16	68863581	A	G	TTGACTTGAGCCAGCTGCAC[A/G]GGGGCCTGGACGCTCGGCCT	4757960	NM_004360	9	18	15	32	.	.	.	.						
U	CDH1	SJNBL001	missense	D805N	rs200894246		0.000615574			T	D	L	Silver	PUBMED=23197654	chr16	68863674	G	A	TTCCCCGCCCTGCCAATCCC[G/A]ATGAAATTGGAAATTTTATT	4757960	NM_004360	16	35	6	26	.	.	.	.						
U	CDH1	SJNBL138	missense	R732W						T	D	M	Silver	PUBMED=15235021	chr16	68862106	C	T	TGCTGCTCTTGCTGTTTCTT[C/T]GGAGGAGAGCGGTGGTCAAA	4757960	NM_004360	.	.	.	.	38	68	36	86						
U	CDK4	SJE2A006	missense	S52N						D	D	L	Silver	PUBMED=10398427	chr12	58145346	C	T	AAGCCACCTCACGAACTGTG[C/T]TGATGGGAAGGCCTCCTCCA	4502735	NM_000075	.	.	.	.	24	52	16	34						CDK9 p.E107Q
U	DICER1	SJACT060	missense	L460F						T	D	L	Silver		chr14	95584088	C	G	TGTTTGCCAGCTTCCTTTAT[C/G]AATCTAAGAAAATTATACAC	29294651	NM_177438	41	67	20	29	.	.	.	.						
U	DICER1	SJHYPER016	missense	E470D						T	D	N	Silver		chr14	95584058	C	G	TTGCTACTGATATAAGCCAG[C/G]TCTGGATCTTGTTTGCCAGC	29294651	NM_177438	24	67	10	25	12	49	11	30						
U	FH	SJEPD035	missense	A472D						D	D	H	Silver		chr1	241661246	G	T	CATTTTTGTGTGCTGTCTTA[G/T]CAATCTTTGCTGCCTTGTCA	19743875	NM_000143	25	60	17	36	.	.	.	.						
U	FH	SJETV190	missense	A194T						D	D	H	Silver		chr1	241672061	C	T	TGCAGCAGCAATGTGCATTG[C/T]TGTGGGAAAAGTATCATTTG	19743875	NM_000143	32	59	11	27	.	.	.	.						
U	FH	SJEWS001320	missense	R101Q	rs75086406					T	P	N	Silver	PUBMED=15663510	chr1	241676979	C	T	GGTTTACTTCAGCGGCCGCT[C/T]GCTTCAAGATGCCAAAAGCT	19743875	NM_000143	28	54	21	35	.	.	.	.						
U	FH	SJHGG057	missense	I120V	rs199641124					T	B	M	Silver		chr1	241676923	T	C	CTCATCTGCTGCCTTCATTA[T/C]TGCATTAGCAATCTTTGGAT	19743875	NM_000143	.	.	.	.	32	42	16	34						
U	FH	SJNBL135	missense	R74S	rs146739519		0.000153775			D	D	H	Silver		chr1	241680527	T	A	ATCTTAAAGTTCATCGTAGA[T/A]CTCACGGTCTGGGCGCCATA	19743875	NM_000143	.	.	.	.	53	114	57	96						
U	FH	SJOS001105	missense	P174R	rs199822819		0.00030755			D	D	M	Silver	PUBMED=NO ID	chr1	241675301	G	C	CATGATCGTTGGGATGCACA[G/C]GTATCTTGCTGCCAAGTTCA	19743875	NM_000143	28	49	14	32	.	.	.	.						
U	FH	SJPHALL020037	missense	E404D						D	D	M	Silver	PUBMED=16881969	chr1	241665767	C	A	ATTGGCTTGAAAACATTCAA[C/A]TCAAAATGTCCATTGCTGCC	19743875	NM_000143	18	45	15	31	32	47	34	65						
U	GATA2	SJINF002	missense	D23Y						D	D	L	Silver		chr3	128205808	C	A	CAGGCCCGGGTGGTGTGAGT[C/A]GGGGTGCTGCGCATTCAGCA	20070352	NM_032638	0	1	4	8	.	.	.	.						
U	GATA2	SJINF010	missense	G273R						D	P	M	Silver		chr3	128204624	C	T	GGTGAAGCTGGAGGCCGGTC[C/T]CCCCAGGAAGCCTCCGGGGT	20070352	NM_032638	5	13	9	18	.	.	.	.						
U	HRAS	SJEPD001510	missense	N86T	rs138272051		0.000461326			T	B	M	Silver		chr11	533799	T	G	TGTCCTCAAAAGACTTGGTG[T/G]TGTTGATGGCAAACACACAC	34222246	NM_176795	.	.	.	.	53	108	67	136	3528	6512	368	691	Valid	
U	KRAS	SJCBF003	nonsense	C180*	rs373169526		0.000153846			T			Silver		chr12	25368405	A	T	ATGCATTTTTTAATTTTCAC[A/T]CAGCCAGGAGTCTTTTCTTC	15718763	NM_033360	13	29	18	38	.	.	.	.	4674	9001	4307	8496	Valid	
LB	KRAS	SJEWS001308	missense	M189L	rs201170656		0.000307598			T	B	N	Bronze		chr12	25368380	T	G	CTTAAACTTACCAGATTACA[T/G]TATAATGCATTTTTTAATTT	15718763	NM_033360	28	62	26	43	.	.	.	.	3384	6686	3950	7637	Valid	
LB	KRAS	SJNBL045	missense	M189L	rs201170656		0.000307598			T	B	N	Bronze		chr12	25368380	T	G	CTTAAACTTACCAGATTACA[T/G]TATAATGCATTTTTTAATTT	15718763	NM_033360	17	48	19	38	.	.	.	.	2962	6240	2344	4732	Valid	
U	MAP2K2	SJBALL087	missense	V202M						D	D	N	Silver		chr19	4101118	C	T	GATCTCCCCTCTAGAGTTCA[C/T]GAGGATGTTGGAGGGCTTCA	13489054	NM_030662	.	.	.	.	56	62	19	40						
U	MAP2K2	SJEPD001505	missense	L255P						D	D	M	Silver		chr19	4099354	A	G	CGGCCAGCTCCACCAGGGAC[A/G]GGCCCATGCTCCAGATGTCC	13489054	NM_030662	.	.	.	.	87	174	51	109						
U	MAP2K2	SJINF020031	missense	R313Q	rs151133017		0.00030755			T	D	N	Silver		chr19	4097323	C	T	CAAAGATGGCCATGGCAGGC[C/T]GGCTATCCATCCCGTGACCT	13489054	NM_030662	30	46	20	37	.	.	.	.						
U	MAP2K2	SJINF020032	missense	R313Q	rs151133017		0.00030755			T	D	N	Silver		chr19	4097323	C	T	CAAAGATGGCCATGGCAGGC[C/T]GGCTATCCATCCCGTGACCT	13489054	NM_030662	11	28	8	17	.	.	.	.						
U	MAP2K2	SJLGG029	missense	R164M						D	D	M	Silver		chr19	4102411	C	A	CCAGGATCTCCTCGGGAATC[C/A]TCTTGGCCTCTTTCAGCACC	13489054	NM_030662	22	48	6	17	.	.	.	.						
LB	MEN1	SJE2A002	missense	G503D	rs375804228		NA			T	B	N	Bronze		chr11	64572131	C	T	CACCCTGGCCGGTGCCCAGG[C/T]CCTTGTCCAGTGCTGGCTTC	18860847	NM_130799	5	12	2	2	.	.	.	.	233	492	672	1112	Valid	
LB	MEN1	SJE2A028	missense	G503D	rs375804228		NA			T	B	N	Bronze		chr11	64572131	C	T	CACCCTGGCCGGTGCCCAGG[C/T]CCTTGTCCAGTGCTGGCTTC	18860847	NM_130799	.	.	.	.	8	18	4	11	1797	3484	2071	4297	Valid	
LB	MEN1	SJTALL065	missense	N189S	N/A		NA			T	P	N	Bronze		chr11	64575451	T	C	CCTCAGCTGTCTGCTCCCCA[T/C]TGGGCCCAAACACTACCCAG	18860847	NM_130799	.	.	.	.	28	45	39	70	3918	8156	1689	3219	Valid	
U	MLH1	*SJMB034	missense	E331K	N/A		NA			T	D	L	Silver		chr3	37061907	G	A	AGCGGGTGCAGCAGCACATC[G/A]AGAGCAAGCTCCTGGGCTCC	4557757	NM_000249	0	13	12	30	.	.	.	.	64	5016	2381	4628	Valid	
B	MLH1	SJAMLM7006	missense	A441T	rs63750365		0.000615101			T	B	N	Silver	PUBMED=9326924	chr3	37067410	G	A	TCCCAGCCCCTGCTGAAGTG[G/A]CTGCCAAAAATCAGAGCTTG	4557757	NM_000249	12	21	15	30	55	121	76	117	2343	4801	1440	2222	Valid	
LB	MLH1	SJAMLM7010475	missense	V384D	rs63750447		0.000153775	Yes		D	D	M	Silver		chr3	37067240	T	A	GGTCTATGCCCACCAGATGG[T/A]TCGTACAGATTCCCGGGAAC	4557757	NM_000249	.	.	.	.	47	98	27	57	N/A	N/A	1564	3044	Valid	
LB	MLH1	SJBALL020570	missense	Q689R	rs63750702		0.000461326			T	B	M	Silver	PUBMED=11726306	chr3	37090471	A	G	GTTCTATTCCATCCGGAAGC[A/G]GTACATATCTGAGGAGTCGA	4557757	NM_000249	19	54	13	27	.	.	.	.	4536	8653	3203	7391	Valid	
U	MLH1	SJCBF021	missense	Y646C	rs35045067		NA			D	D	M	Silver	PUBMED=11870161	chr3	37090048	A	G	ACCCCTTCTGATTGACAACT[A/G]TGTGCCCCCTTTGGAGGGAC	4557757	NM_000249	16	30	9	23	.	.	.	.	4397	8453	5547	10994	Valid	
LB	MLH1	SJE2A010	missense	Q327E	N/A		NA			T	D	L	Silver	PUBMED=19731080	chr3	37061895	C	G	AGAGCATCCTGGAGCGGGTG[C/G]AGCAGCACATCGAGAGCAAG	4557757	NM_000249	20	33	10	26	.	.	.	.	590	945	750	1490	Valid	
LB	MLH1	SJETV032	missense	Y721C	N/A		NA			D	B	L	Silver	PUBMED=10713887	chr3	37092035	A	G	GACTGTGGAACACATTGTCT[A/G]TAAAGCCTTGCGCTCACACA	4557757	NM_000249	34	59	14	30	.	.	.	.	2802	5618	2994	5820	Valid	
LB	MLH1	SJHGG052	missense	G22A	rs41295280		0.000153775			D	D	M	Silver		chr3	37035103	G	C	GGTGAACCGCATCGCGGCGG[G/C]GGAAGTTATCCAGCGGCCAG	4557757	NM_000249	12	30	10	24	.	.	.	.	1684	3205	1955	3439	Valid	
LB	MLH1	SJHYPER023	missense	R18C	rs367654552		0.000153775			D	D	M	Silver		chr3	37035090	C	T	TGGACGAGACAGTGGTGAAC[C/T]GCATCGCGGCGGGGGAAGTT	4557757	NM_000249	15	28	8	16	12	27	16	32	Sanger	Sanger	Sanger	Sanger	Valid	
U	MLH1	SJHYPER117	missense	Y684C	rs267607886		NA			D	D	M	Silver	PUBMED=21642682	chr3	37090456	A	G	TAAAGAATGCGCTATGTTCT[A/G]TTCCATCCGGAAGCAGTACA	4557757	NM_000249	19	43	18	33	.	.	.	.	3166	6436	2332	4577	Valid	
LB	MLH1	SJHYPO110	missense	R265H	rs63751448		NA			D	D	H	Silver	PUBMED=19423266	chr3	37059000	G	A	TTCTTTTTATTGTTTAGATC[G/A]TCTGGTAGAATCAACTTCCT	4557757	NM_000249	19	52	18	36	40	71	36	62	341	687	1977	3847	Valid	
B	MLH1	SJHYPO147	missense	G373R	N/A		NA			T	B	L	Bronze		chr3	37067206	G	A	TGACCTCGTCTTCTACTTCT[G/A]GAAGTAGTGATAAGGTCTAT	4557757	NM_000249	7	14	9	20	.	.	.	.	13	83	106	1167	Valid	
LB	MLH1	SJMB032	missense	V384D	rs63750447		0.000153775	Yes		D	D	M	Silver		chr3	37067240	T	A	GGTCTATGCCCACCAGATGG[T/A]TCGTACAGATTCCCGGGAAC	4557757	NM_000249	16	27	2	7	.	.	.	.	1627	3023	2276	4509	Valid	
B	MLH1	SJNBL134	missense	A441T	rs63750365		0.000615101			T	B	N	Silver	PUBMED=9326924	chr3	37067410	G	A	TCCCAGCCCCTGCTGAAGTG[G/A]CTGCCAAAAATCAGAGCTTG	4557757	NM_000249	.	.	.	.	61	120	62	127	2526	5241	2319	4605	Valid	
LB	MLH1	SJPHALL006	missense	E13K	N/A		NA			D	D	L	Silver	PUBMED=19224586	chr3	37035075	G	A	GGGTTATTCGGCGGCTGGAC[G/A]AGACAGTGGTGAACCGCATC	4557757	NM_000249	11	19	9	12	.	.	.	.	925	1935	1383	2940	Valid	
LB	MLH1	SJRHB027	missense	I630M	N/A		NA			D	D	M	Silver		chr3	37089168	T	G	GACTATTTCTCTTTGGAAAT[T/G]GATGAGGTGTGACAGCCATT	4557757	NM_000249	.	.	.	.	24	55	55	83	1349	3987	2372	5093	Valid	
LB	MLH1	SJTALL007	missense	R18C	rs367654552		0.000153775			D	D	M	Silver		chr3	37035090	C	T	TGGACGAGACAGTGGTGAAC[C/T]GCATCGCGGCGGGGGAAGTT	4557757	NM_000249	7	9	8	11	.	.	.	.	1495	2961	1659	3429	Valid	
LB	MLH1	SJTALL081	missense	E717D	N/A		NA			D	D	M	Silver		chr3	37092024	A	T	TCCTGGAAGTGGACTGTGGA[A/T]CACATTGTCTATAAAGCCTT	4557757	NM_000249	.	.	.	.	15	27	14	24	26	6298	11	1778	Valid	
B	MSH2	SJACT065	missense	T8M	rs17217716		0.00030888			T	P	L	Silver	PUBMED=10777691	chr2	47630353	C	T	GGCGGTGCAGCCGAAGGAGA[C/T]GCTGCAGTTGGAGAGCGCGG	4557761	NM_000251	18	41	4	4	.	.	.	.	2008	3726	1260	2521	Valid	
LB	MSH2	SJBALL020882	missense	K449N	N/A		NA			T	P	M	Silver	PUBMED=11208710	chr2	47672757	G	C	CTTCGTTCTGACTTCTCCAA[G/C]TTTCAGGAAATGATAGAAAC	4557761	NM_000251	31	71	13	25	.	.	.	.	329	691	1123	2276	Valid	
LB	MSH2	SJBALL021434	missense	N596S	rs41295288		0.000461326			T	B	N	Silver	PUBMED=10573010	chr2	47702191	A	G	AGAACCAATGCAGACACTCA[A/G]TGATGTGTTAGCTCAGCTAG	4557761	NM_000251	.	.	.	.	26	51	52	99	2979	5970	3953	7884	Valid	
B	MSH2	SJCBF116	missense	T8M	rs17217716		0.00030888			T	P	L	Silver	PUBMED=10777691	chr2	47630353	C	T	GGCGGTGCAGCCGAAGGAGA[C/T]GCTGCAGTTGGAGAGCGCGG	4557761	NM_000251	.	.	.	.	16	42	14	26	2045	3779	2352	4161	Valid	
B	MSH2	SJCBF137	missense	T8M	rs17217716		0.00030888			T	P	L	Silver	PUBMED=10777691	chr2	47630353	C	T	GGCGGTGCAGCCGAAGGAGA[C/T]GCTGCAGTTGGAGAGCGCGG	4557761	NM_000251	.	.	.	.	9	16	11	22	1760	3313	952	1879	Valid	
LB	MSH2	SJEPD001510	missense	Y118C	N/A		NA			T	P	N	Silver		chr2	47635681	A	G	ATCCAAGGAGAATGATTGGT[A/G]TTTGGCATATAAGGTAATTA	4557761	NM_000251	.	.	.	.	12	15	14	29	2960	5745	1717	3404	Valid	
U	MSH2	SJETV077	missense	P616R	N/A		NA			D	P	M	Silver		chr2	47702251	C	G	TCACGTGTCAAATGGAGCAC[C/G]TGTTCCATATGTACGACCAG	4557761	NM_000251	24	44	13	28	.	.	.	.	471	993	1461	2863	Valid	
LB	MSH2	SJEWS001318	missense	Q793E	N/A		NA			T	B	N	Silver		chr2	47705577	C	G	AACTTACTGCCTTGGCCAAT[C/G]AGATACCAACTGTTAATAAT	4557761	NM_000251	31	62	14	40	.	.	.	.	3113	5718	3637	7006	Valid	
B	MSH2	SJHYPER206	missense	T905R	rs267608022		NA			T	B	N	Silver	PUBMED=8880570	chr2	47709997	C	G	AATGTCAGAAGAAAACATCA[C/G]AATAAAGTTAAAACAGCTAA	4557761	NM_000251	28	58	23	42	.	.	.	.	3024	6437	3159	6773	Valid	
LB	MSH2	SJHYPO019	missense	D597A	N/A		NA			T	B	L	Silver		chr2	47702194	A	C	ACCAATGCAGACACTCAATG[A/C]TGTGTTAGCTCAGCTAGATG	4557761	NM_000251	.	.	.	.	52	60	24	53	1905	2107	2140	4596	Valid	
U	MSH2	SJHYPO041	missense	Y43C	rs17217723		0.000154178			D	D	M	Silver	PUBMED=16395668	chr2	47630458	A	G	TTTCGACCGGGGCGACTTCT[A/G]TACGGCGCACGGCGAGGACG	4557761	NM_000251	.	.	.	.	9	10	9	18	3444	3528	1613	2997	Valid	
U	MSH2	SJHYPO114	missense	L602V	N/A		NA			D	P	M	Silver		chr2	47702208	C	G	TCAATGATGTGTTAGCTCAG[C/G]TAGATGCTGTTGTCAGCTTT	4557761	NM_000251	.	.	.	.	40	88	20	51	939	1711	1647	3257	Valid	
B	MSH2	SJINF014	missense	T8M	rs17217716		0.00030888			T	P	L	Silver	PUBMED=10777691	chr2	47630353	C	T	GGCGGTGCAGCCGAAGGAGA[C/T]GCTGCAGTTGGAGAGCGCGG	4557761	NM_000251	5	9	5	8	.	.	.	.	3476	6613	3222	6340	Valid	
U	MSH2	SJLGG020	missense	Q344H	rs375799148		0.000153775			D	D	M	Silver	PUBMED=12655568	chr2	47643524	G	C	GGACAAAGACTTGTTAACCA[G/C]TGGATTAAGCAGCCTCTCAT	4557761	NM_000251	14	38	10	27	.	.	.	.	1773	3735	2601	5393	Valid	
U	MSH2	SJMLL002	missense	V363L	rs377345366		0.000307598			D	D	M	Silver		chr2	47656891	G	T	TTTATTTCAGATTGAATTTA[G/T]TGGAAGCTTTTGTAGAAGAT	4557761	NM_000251	.	.	.	.	18	49	14	18	1994	4120	2876	5619	Valid	
B	MSH2	SJNBL002	missense	T8M	rs17217716		0.00030888			T	P	L	Silver	PUBMED=10777691	chr2	47630353	C	T	GGCGGTGCAGCCGAAGGAGA[C/T]GCTGCAGTTGGAGAGCGCGG	4557761	NM_000251	4	8	4	9	.	.	.	.	3304	6727	3273	6514	Valid	
LB	MSH2	SJNBL137	missense	Q629R	rs61756468		NA			T	B	L	Silver	PUBMED=12132870	chr2	47702290	A	G	AGCCATTTTGGAGAAAGGAC[A/G]AGGAAGAATTATATTAAAAG	4557761	NM_000251	.	.	.	.	57	117	46	100	2878	7659	5518	12052	Valid	
B	MSH2	SJNBL195	missense	I145M	rs63750124		0.000768876			T	B	N	Silver	PUBMED=15855432	chr2	47637301	T	G	AATGATATGTCAGCTTCCAT[T/G]GGTGTTGTGGGTGTTAAAAT	4557761	NM_000251	65	92	15	33	.	.	.	.	3358	4849	2013	4365	Valid	
U	MSH2	SJOS011	missense	A763V	rs144412585		0.000153775			D	D	H	Silver		chr2	47705488	C	T	CTACGATGGATTTGGGTTAG[C/T]ATGGGCTATATCAGAATACA	4557761	NM_000251	4	72	15	25	.	.	.	.	153	3487	1352	2754	Valid	
B	MSH2	SJPHALL015	missense	I145M	rs63750124		0.000768876			T	B	N	Silver	PUBMED=15855432	chr2	47637301	T	G	AATGATATGTCAGCTTCCAT[T/G]GGTGTTGTGGGTGTTAAAAT	4557761	NM_000251	26	55	15	37	.	.	.	.	Sanger	Sanger	Sanger	Sanger	Valid	
B	MSH2	SJPHALL018	missense	L390F	rs17224367		0.000153775			D	B	M	Silver	PUBMED=9774676	chr2	47656972	C	T	GATTCCCAGATCTTAACCGA[C/T]TTGCCAAGAAGTTTCAAAGA	4557761	NM_000251	37	67	28	47	.	.	.	.	999	2090	845	2029	Valid	
U	MSH2	SJPHALL020040	missense	P616R	N/A		NA			D	P	M	Silver		chr2	47702251	C	G	TCACGTGTCAAATGGAGCAC[C/G]TGTTCCATATGTACGACCAG	4557761	NM_000251	19	45	14	25	33	82	41	102	1451	2951	2184	4510	Valid	
U	MSH2	SJPHALL020045	missense	G315V	rs202026056		NA			D	B	M	Silver	PUBMED=10422993	chr2	47643436	G	T	TTTATTTTTTGTTTACTAGG[G/T]TTCTGTTGAAGATACCACTG	4557761	NM_000251	31	55	20	37	45	83	34	73	610	1276	2498	5435	Valid	
LB	MSH2	SJRHB007	missense	T33P	rs63751107		NA			D	D	M	Silver	PUBMED=16237223	chr2	47630427	A	C	TGCCGGAGAAGCCGACCACC[A/C]CAGTGCGCCTTTTCGACCGG	4557761	NM_000251	11	32	5	8	.	.	.	.	1087	2845	2342	4672	Valid	
U	MSH2	SJRHB028	missense	N186S	rs151129360		0.000768876			D	D	M	Silver		chr2	47637423	A	G	TGATAATGATCAGTTCTCCA[A/G]TCTTGAGGCTCTCCTCATCC	4557761	NM_000251	.	.	.	.	45	51	20	49	701	843	1312	2751	Valid	
LB	MSH6	SJACT015	missense	L735I	N/A		NA			T	D	L	Silver		chr2	48027325	C	A	AAGCCTATCAACGAATGGTG[C/A]TAGATGCAGTGACATTAAAC	4504191	NM_000179	.	.	.	.	45	160	80	155	3528	9554	2422	5710	Valid	
B	MSH6	SJAMLM7066	frameshift	K1358fs	N/A		NA						Gold		chr2	48033988	-	GATT	GACTTTGATT(---->GATT)AAGGAATTAT	4504191	NM_000179	.	.	.	.	107	219	46	95	N/A	N/A	N/A	N/A	Putative	
LB	MSH6	SJBALL204	missense	N1301D	N/A		NA			T	D	L	Silver		chr2	48033690	A	G	GTCCTAAAAGCTATGGCTTT[A/G]ATGCAGCAAGGCTTGCTAAT	4504191	NM_000179	.	.	.	.	60	130	63	132	Sanger	Sanger	Sanger	Sanger	Valid	
U	MSH6	SJCBF029	missense	M875T	N/A		NA			D	B	M	Silver		chr2	48027746	T	C	GTGTAAAATTATAGGGATCA[T/C]GGAAGAAGTTGCTGATGGTT	4504191	NM_000179	.	.	.	.	21	44	19	43	2413	5074	88	208	Valid	
B	MSH6	SJCBF103	missense	M1326R	N/A		NA			T	B	N	Bronze		chr2	48033766	T	G	AGCAAGAGAATTTGAGAAGA[T/G]GAATCAGTCACTACGATTAT	4504191	NM_000179	.	.	.	.	45	90	31	65	2907	5734	2490	4783	Valid	
B	MSH6	SJCBF145	missense	H388D	N/A		NA			T	B	N	Bronze		chr2	48026284	C	G	AGCACAGGAGGAGGCCTGAT[C/G]ACCCCGATTTTGATGCATCT	4504191	NM_000179	.	.	.	.	82	164	42	106	653	1312	2454	4604	Valid	
B	MSH6	SJCBF152	missense	T553I	N/A		NA			T	B	L	Bronze		chr2	48026780	C	T	GGAAGATTCTTCTGGCCATA[C/T]TCGTGCATATGGTGTGTGCT	4504191	NM_000179	.	.	.	.	37	89	41	103	5722	11036	2962	5517	Valid	
B	MSH6	SJE2A009	missense	S314R	rs150440246		0.000615101			T	B	L	Bronze		chr2	48026064	C	G	GGCTCTCTTAAAAGGAAAAG[C/G]TCTAGGAAGGAAACGCCCTC	4504191	NM_000179	23	45	16	31	.	.	.	.	1514	2950	2834	5610	Valid	
B	MSH6	SJERG020	missense	G354V	N/A		NA			T	B	N	Bronze		chr2	48026183	G	T	ATCCCAAGCCCACGTTAGTG[G/T]AGGTGGTGATGACAGTAGTC	4504191	NM_000179	34	56	20	36	.	.	.	.	919	1648	2250	4606	Valid	
U	MSH6	SJERG031	missense	P1295L	N/A		NA			D	D	M	Silver		chr2	48033673	C	T	ATTCATTAAGGGAGCTTGTC[C/T]TAAAAGCTATGGCTTTAATG	4504191	NM_000179	35	65	29	41	.	.	.	.	2543	3907	3004	6004	Valid	
B	MSH6	SJEWS010369	missense	A182V	N/A		NA			T	B	L	Bronze		chr2	48023120	C	T	AATGCAACGTGCAGATGAAG[C/T]CTTAAATAAAGACAAGATTA	4504191	NM_000179	19	29	12	19	.	.	.	.	N/A	N/A	N/A	N/A	Putative	
U	MSH6	SJHGG073	missense	T6P	rs200944853		NA			D	D	L	Silver		chr2	48010388	A	C	TCGGTATGTCGCGACAGAGC[A/C]CCCTGTACAGCTTCTTCCCC	4504191	NM_000179	.	.	.	.	3	3	1	5	646	1697	3224	6254	Valid	
B	MSH6	SJHGG090	missense	R243C	rs377216828		0.000153775			T	P	L	Bronze		chr2	48025849	C	T	AAGGATCTAGGCGAAGTAGC[C/T]GCCAAATAAAAAAACGAAGG	4504191	NM_000179	.	.	.	.	72	152	93	180	1279	2320	2545	4844	Valid	
B	MSH6	SJHYPER017	missense	N112D	N/A		NA			T	P	N	Bronze		chr2	48018139	A	G	GGTGGCCTTGTCTGGTTTAC[A/G]ACCACCCCTTTGATGGAACA	4504191	NM_000179	.	.	.	.	22	43	19	34	Sanger	Sanger	Sanger	Sanger	Valid	
B	MSH6	SJHYPER116	missense	C615S	N/A		NA			T	B	N	Bronze		chr2	48026966	G	C	TCTAAAGAGTTCATTGTCCT[G/C]TTCTCTTCAGGAAGGTCTGA	4504191	NM_000179	16	38	15	27	.	.	.	.	3208	6842	4324	9028	Valid	
B	MSH6	SJINF012	missense	G289D	rs368318845		0.00030755			T	B	N	Bronze		chr2	48025988	G	A	GGGGGATAGTGAGAGTGAAG[G/A]CCTGAACAGCCCTGTCAAAG	4504191	NM_000179	26	51	11	19	.	.	.	.	1752	3467	1815	3527	Valid	
B	MSH6	SJINF018	missense	D217G	N/A		NA			T	B	L	Bronze		chr2	48025772	A	G	AGGCACAACTTACGTAACAG[A/G]TAAGAGTGAAGAAGATAATG	4504191	NM_000179	16	30	17	34	.	.	.	.	918	1904	2694	5373	Valid	
U	MSH6	SJMB034	missense	R1068Q	N/A		NA			T	B	N	Silver	PUBMED=11807791	chr2	48030589	G	A	GTGCCTGGCTAACTATAGTC[G/A]AGGGGGTGATGGTCCTATGT	4504191	NM_000179	16	30	15	38	.	.	.	.	2149	4411	3643	6562	Valid	
U	MSH6	SJNBL027	missense	P623A	rs3136334		0.000615195			T	B	L	Silver		chr2	48026989	C	G	CTCTTCAGGAAGGTCTGATA[C/G]CCGGCTCCCAGTTTTGGGAT	4504191	NM_000179	20	39	14	28	.	.	.	.	3424	6733	2775	5734	Valid	
U	MSH6	SJPHALL009	missense	P623A	rs3136334		0.000615195			T	B	L	Silver		chr2	48026989	C	G	CTCTTCAGGAAGGTCTGATA[C/G]CCGGCTCCCAGTTTTGGGAT	4504191	NM_000179	29	49	23	52	.	.	.	.	3514	6960	2118	4279	Valid	
B	MSH6	SJPHALL018	frameshift	K1358fs	N/A		NA						Gold		chr2	48033988	-	GATT	GACTTTGATT(---->GATT)AAGGAATTAT	4504191	NM_000179	23	59	19	41	.	.	.	.	2040	5746	1373	5691	Valid	
B	MSH6	SJPHALL020037	frameshift	K1358fs	N/A		NA						Gold		chr2	48033988	-	GATT	GACTTTGATT(---->GATT)AAGGAATTAT	4504191	NM_000179	16	48	13	34	21	59	27	71	135	428	959	2780	Valid	
B	MSH6	SJPHALL028	missense	I725V	rs148898662		0.000461326			T	B	N	Bronze		chr2	48027295	A	G	GCACTACAAGATCTGGTGCT[A/G]TCTTCACCAAAGCCTATCAA	4504191	NM_000179	32	65	18	38	.	.	.	.	4380	7797	2621	6040	Valid	
B	MSH6	SJTALL012	missense	R298Q	N/A		NA			T	B	L	Bronze		chr2	48026015	G	A	CAGCCCTGTCAAAGTTGCTC[G/A]AAAGCGGAAGAGAATGGTGA	4504191	NM_000179	10	30	12	21	.	.	.	.	202	486	1180	2406	Valid	
U	NF1	SJACT065	missense	R156C	N/A		NA			D	D	M	Silver		chr17	29490381	C	T	ACTTCAATGCAGTCTTTAGT[C/T]GCATTTCTACCAGGTTAGTG	4557793	NM_000267	17	35	17	31	.	.	.	.	1780	3666	1629	3356	Valid	
LB	NF1	SJBALL021894	missense	I2660V	rs146315101		0.00030755			T	B	N	Bronze		chr17	29685568	A	G	ATCCAAATTTGTTAAATCCA[A/G]TCCATGGAATTGTGCAGAGT	4557793	NM_000267	40	84	16	34	.	.	.	.	2974	6348	2510	5309	Valid	
LB	NF1	SJBALL247	missense	A2315S	N/A		NA			T	P	L	Bronze		chr17	29667607	G	T	ACTTGTATTCAGCAGGTACC[G/T]CACTTCTTGAACAAAACCTG	4557793	NM_000267	28	52	11	23	.	.	.	.	2756	4801	1406	2585	Valid	
U	NF1	SJCBF112	missense	Q2665R	N/A		NA			T	D	M	Silver		chr17	29685584	A	G	TCCAATCCATGGAATTGTGC[A/G]GAGTGTGGTGTACCATGAAG	4557793	NM_000267	.	.	.	.	45	104	46	110	733	1508	982	1927	Valid	
LB	NF1	SJE2A005	missense	S1124N	rs374472758		0.000153775			T	B	N	Bronze		chr17	29559774	G	A	CAGTGAAGTTGAAGATGAAA[G/A]TGCGCAAACAGGTGGCAGGA	4557793	NM_000267	28	48	11	27	.	.	.	.	2012	4004	1869	3915	Valid	
LB	NF1	SJE2A023	missense	Q1948L	rs143502927		0.000615101			T	B	L	Bronze		chr17	29661949	A	T	TAATGATGATGCCAAACGAC[A/T]AAGAGTTACTGCTATTCTTG	4557793	NM_000267	22	51	18	36	25	68	12	29	405	833	1388	3004	Valid	
U	NF1	SJEPD001519	missense	R1488H	N/A		NA	Yes		T	D	M	Silver		chr17	29587482	G	A	CAATGTGCTTGCTTTACATC[G/A]TCTACTCTGGAACAATCAGG	4557793	NM_000267	.	.	.	.	35	59	16	25	1145	2276	3401	6828	Valid	
U	NF1	SJEPD034	missense	P1087R	N/A		NA			D	D	M	Silver		chr17	29559153	C	G	AGCTGGTCTCCCTCTGCAGC[C/G]TGAAGAAGGAGATGGTGTGG	4557793	NM_000267	23	52	10	21	.	.	.	.	1194	2540	2381	5154	Valid	
U	NF1	SJEPD034	missense	A1148S	N/A		NA			T	P	M	Silver		chr17	29559845	G	T	TGAGGCACTGTACGGTCCTT[G/T]CAATGTCAAACTTACTCAAT	4557793	NM_000267	34	63	26	41	.	.	.	.	398	728	2210	4284	Valid	
LB	NF1	SJHGG035	missense	H2459R	rs371151718		0.000153775			T	B	N	Bronze		chr17	29677318	A	G	GGATACATATCCCATTCATC[A/G]TGGTGACCCTTCCTATAGGT	4557793	NM_000267	.	.	.	.	6	22	21	47	1557	4876	1907	3595	Valid	
LB	NF1	SJOS001112	missense	A308G	N/A		NA			T	B	N	Bronze		chr17	29527474	C	G	CAGTCTACGAAAAGCTCTTG[C/G]TGGCCATGGAGGAAGTAGGC	4557793	NM_000267	32	34	15	23	.	.	.	.	4123	4644	1066	2201	Valid	
LB	NF1	SJOS012	missense	P1466S	N/A		NA			T	B	N	Bronze		chr17	29587415	C	T	TTGATATAGCATCTGATTGT[C/T]CTACAAGTGATGCAGTAAAT	4557793	NM_000267	39	58	24	35	.	.	.	.	2073	3095	3285	6097	Valid	
U	NF1	SJRHB003	missense	R2811C	N/A		NA				D	N	Silver		chr17	29701147	C	T	GAAGCGCTGGCAGTTTCAAA[C/T]GTAATAGCATTAAGAAGATC	109826564	NM_000267	27	29	19	38	.	.	.	.	2892	2962	1334	2497	Valid	
LB	NF1	SJRHB013	missense	N2812H	N/A		NA				B	N	Bronze		chr17	29701150	A	C	GCGCTGGCAGTTTCAAACGT[A/C]ATAGCATTAAGAAGATCGTG	109826564	NM_000267	12	35	10	24	.	.	.	.	2319	4855	1175	2224	Valid	
U	NF2	*SJHGG115	missense	T352M	N/A		NA				P	L	Silver	PUBMED=8081368	chr22	30067870	C	T	GAGGGAGGAGGCTGAACGCA[C/T]GAGGGATGAGTTGGAGAGGA	4557795	NM_000268	.	.	.	.	4	162	154	312	169	5379	4572	8933	Valid	
U	NF2	SJHYPER010	missense	E547K	rs199669486		0.000461326				P	M	Silver		chr22	30077492	G	A	ATGAACTCAAGACAGAAATC[G/A]AGGCCTTGAAACTGAAAGAG	4557795	NM_000268	27	42	12	29	.	.	.	.	1159	2375	1385	3103	Valid	
U	NF2	SJHYPO047	missense	E422K	N/A		NA				P	M	Silver		chr22	30069399	G	A	CAGCGATTCGCACGGAGGAG[G/A]AGAAGCGCCTGATGGAGCAG	4557795	NM_000268	.	.	.	.	53	58	44	87	2676	3008	2397	4744	Valid	
U	NRAS	SJCBF094	proteinDel	E153_D154>D	N/A		NA						Silver		chr1	115251265	TCT	-	GTAAAAAGCA(TCT>---)TCAACACCCT	4505451	NM_002524	62	146	40	90	.	.	.	.	205	633	1318	4094	Valid	
LB	NRAS	SJNBL025	missense	I84V	N/A		0.000153775			T	B	N	Bronze		chr1	115256461	T	C	AAATGACTTGCTATTATTGA[T/C]GGCAAATACACAGAGGAAGC	4505451	NM_002524	27	37	19	30	.	.	.	.	894	1369	1503	2998	Valid	
U	PALB2	SJAMLM7010475	missense	H394L						D	P	M	Silver		chr16	23646686	T	A	CTTCAGGCACTGTGCAAGAA[T/A]GTTTTTCTGCAGAAAGAGGA	27436910	NM_024675	.	.	.	.	38	78	60	97						
U	PALB2	SJBALL020516	missense	H549Q						T	P	M	Silver		chr16	23646220	G	T	AATTTTTCGTGCTGATATTT[G/T]TGTGAGGTGACTTCTTCCTT	27436910	NM_024675	32	51	28	47	.	.	.	.						
LB	PALB2	SJCBF016	missense	G1145S						T	D	L	Silver		chr16	23614908	C	T	GAGGAGGGCAGTACACTGAC[C/T]GAGAAGTAAGTCCCAAATGG	27436910	NM_024675	.	.	.	.	39	90	57	104						
U	PALB2	SJHYPO120	missense	E1083D	rs147045425		0.000153917	Yes		D	D	M	Silver		chr16	23619286	C	G	AACACAGGGCTTCGCAACGA[C/G]TCACTCTCTTTGGCACAGGG	27436910	NM_024675	2	28	19	34	.	.	.	.						
U	PALB2	SJNBL008	missense	E1083K						D	B	M	Silver		chr16	23619288	C	T	CACAGGGCTTCGCAACGACT[C/T]ACTCTCTTTGGCACAGGGAT	27436910	NM_024675	9	23	10	23	.	.	.	.						
U	PALB2	SJOS001108M1	missense	M1049T	rs138273800		0.000153917			D	P	M	Silver		chr16	23625380	A	G	GGTAAGAATCATCAATGTGC[A/G]TCTTTTTCAGGAGTTGACCA	27436910	NM_024675	17	23	20	46	.	.	.	.						
U	PALB2	SJRB020	missense	G439V						D	P	M	Silver		chr16	23646551	C	A	CCTTATTTTTATTTTTAAAC[C/A]CTTTTTTCTTGACATCCAAA	27436910	NM_024675	31	57	20	43	.	.	.	.						
U	PALB2	SJRHB001	missense	G1135E						D	D	M	Silver		chr16	23614937	C	T	AGTCCCAAATGGCAATTGTT[C/T]CAGAAGTCAAGATTGCTGCT	27436910	NM_024675	19	48	22	39	.	.	.	.						
U	PAX5	SJHYPER043	missense	G176R	rs142399779		0.000307645			T	D	L	Silver		chr9	37002723	C	G	GCTGATGGAGTACGACGAGC[C/G]GGCCGAATCCGTGCTCACCG	9951920	NM_016734	9	24	12	20	.	.	.	.	243	580	1354	2435	Valid	
U	PAX5	SJRHB048	missense	P321T						T	D	L	Silver		chr9	36882052	G	T	GTAGCTGCCCTGTCCAGCGG[G/T]GGGGACGTGTGGAGGGTACC	9951920	NM_016734	.	.	.	.	88	134	49	91	139	200	2064	3466	Valid	
LB	PHOX2B	SJHYPER011	missense	G289S						T	D	N	Silver		chr4	41747904	C	T	TAGGACGCTGGCGAAGGGAC[C/T]CCCAAGCGAATCCGGGATGG	12707580	NM_003924	3	3	1	1	.	.	.	.	208	438	707	1575	Valid	
B	PMS2	*SJHYPO024	missense	D60E	rs200313585		0.000923503			T	B	N	Bronze		chr7	6043673	G	C	TCAATAAGATCCACTCCATA[G/C]TCCTTAAGCTTTAGATCTAG	4505913	NM_000535	.	.	.	.	2	95	46	117	329	4773	1666	3337	Valid	
B	PMS2	SJAMLM7010480	missense	V415M	rs138387687		0.00030755	Yes		T	P	L	Bronze		chr7	6027153	C	T	TCGCAGTCTGGAAATGGACA[C/T]GTCTTTTTTTTCTTCTCCAG	4505913	NM_000535	.	.	.	.	15	41	16	27	N/A	N/A	N/A	N/A	Putative	
U	PMS2	SJBALL158	missense	N335S	rs200513014		0.000922935			D	D	M	Silver		chr7	6029571	T	C	GCCTTTTATCTGGAGTAACA[T/C]TGATATCAACGCATTCTAAG	4505913	NM_000535	.	.	.	.	16	27	19	39	2	1077	1	689	Putative	
LB	PMS2	SJBALL160	missense	C216F	N/A		NA			T	D	L	Silver		chr7	6038797	C	A	TGCTGGGGCTTCCACCTGTG[C/A]ATACCACAGGCTGTCGTTTT	4505913	NM_000535	.	.	.	.	38	71	45	81	3059	6828	2659	5613	Valid	
U	PMS2	SJCPC001015	missense	G29A	rs146176004		0.000544218			T	D	M	Silver		chr7	6045600	C	G	TTAGACTCAGTACCACCTGC[C/G]CAGAGCAAATCTGATGGACT	4505913	NM_000535	30	56	15	33	.	.	.	.	786	1972	140	161	Valid	
B	PMS2	SJETV069	missense	T84S	N/A		NA			T	B	L	Bronze		chr7	6043423	G	C	TAGATGTGTGATGTTTCAGA[G/C]CTGAAAGAGAGTGTAAAGTA	4505913	NM_000535	20	47	15	34	.	.	.	.	2002	3964	1786	3861	Valid	
B	PMS2	SJHGG053	missense	S477Y	N/A		NA			T	P	L	Bronze		chr7	6026966	G	T	GGTCACTGGGTCCGTGACTG[G/T]AACTCACTGCCTCTTTCTGA	4505913	NM_000535	.	.	.	.	157	302	57	105	1616	3565	1416	2970	Valid	
U	PMS2	SJHYPER143	missense	Q30K	rs141577476		0.000271961			D	D	M	Silver		chr7	6045598	G	T	GCTTAGACTCAGTACCACCT[G/T]CCCAGAGCAAATCTGATGGA	4505913	NM_000535	.	.	.	.	75	155	66	135	825	1734	1429	3060	Valid	
B	PMS2	SJHYPO020	missense	M312I	rs139194813		0.000768876			T	B	M	Silver		chr7	6031656	C	T	GGATACTGGTGTCGATTATA[C/T]ATGTGGTAGACCTCATTCAC	4505913	NM_000535	4	45	18	24	.	.	.	.	194	2083	3736	7148	Valid	
B	PMS2	SJOS001107	missense	A474S	rs373114291		0.000153775			T	B	N	Bronze		chr7	6026976	C	A	TCCGTGACTGGAACTCACTG[C/A]CTCTTTCTGAGGTCTCAGGA	4505913	NM_000535	9	80	13	22	.	.	.	.	512	4720	2549	5544	Valid	
U	PMS2	SJOS013	missense	G29A	rs146176004		0.000544218			T	D	M	Silver		chr7	6045600	C	G	TTAGACTCAGTACCACCTGC[C/G]CAGAGCAAATCTGATGGACT	4505913	NM_000535	12	53	22	45	.	.	.	.	970	3330	739	1746	Valid	
U	PRKAR1A	SJEWS001304	missense	I149T						D	P	M	Silver		chr17	66520162	T	C	TTCTCTCTTTTGCAGTGATA[T/C]TTTTGATGCCATGTTTTCGG	47132583	NM_212472	20	50	15	30	.	.	.	.						
LB	PTCH1	SJACT017	missense	S242P	rs372422922		0.00030755			D	B	L	Bronze		chr9	98244250	A	G	CAGGAGGTATGCTGTCCCAG[A/G]CTGTAATTTCGCCCCTTCCC	134254466	NM_001083603	.	.	.	.	98	175	60	134	672	1517	2641	5885	Valid	
LB	PTCH1	SJACT025	missense	V1230A	rs182045135		0.000153775			T	B	L	Bronze		chr9	98211463	A	G	GCTCCTCGCTGAGGCCTGAC[A/G]CTGTCGTCTGGGAACTATAC	134254466	NM_001083603	.	.	.	.	27	59	25	44	1923	3333	1273	2748	Valid	
LB	PTCH1	SJACT026	missense	H1416N	N/A		NA			T	B	N	Bronze		chr9	98209289	G	T	CCTCCTCTCACACCGGACGT[G/T]GAAAGGCACGTGGGGGTCCT	134254466	NM_001083603	.	.	.	.	25	58	23	38	Sanger	Sanger	Sanger	Sanger	Valid	
U	PTCH1	SJACT065	missense	R892H	rs138154222		NA			T	D	L	Silver		chr9	98224163	C	T	TGATGTCGATGGGCTTATCG[C/T]GGCTGCCGGTTTGCACCAGG	134254432	NM_001083603	27	40	5	18	.	.	.	.	2696	5974	2739	5502	Valid	
U	PTCH1	SJAMLM7011	missense	R1349W	rs140417636		0.000954654			T	D	L	Silver		chr9	98209490	G	A	GGCAGTGGACGCTGGGTTCC[G/A]AGGGTTGTGAGAACGGGCCC	134254432	NM_001083603	.	.	.	.	0	3	3	4	1520	2960	3226	6442	Valid	
LB	PTCH1	SJBALL021333	missense	C726R	N/A		NA			T	B	L	Bronze		chr9	98231104	A	G	TGAGAGTGTCCACTTCGTAC[A/G]GGGGGGCTCGAGGCAGTGGA	134254432	NM_001083603	.	.	.	.	59	120	53	106	284	575	695	1992	Valid	
LB	PTCH1	SJBALL087	missense	S242P	rs372422922		0.00030755			D	B	L	Bronze		chr9	98244250	A	G	CAGGAGGTATGCTGTCCCAG[A/G]CTGTAATTTCGCCCCTTCCC	134254466	NM_001083603	.	.	.	.	34	72	27	52	Sanger	Sanger	Sanger	Sanger	Valid	
LB	PTCH1	SJBALL231	missense	R1441W	rs143464326		0.000768876			T	B	N	Silver		chr9	98209214	G	A	TCAGTTGGAGCTGCTTCCCC[G/A]GGGCCTCTCCTCGCATTCCA	134254432	NM_001083603	15	32	11	22	.	.	.	.	430	772	2716	5500	Valid	
LB	PTCH1	SJCBF016	missense	D435N	rs142274954		0.000615101			T	B	L	Bronze		chr9	98240378	C	T	CACGCGGATGACACTGACGT[C/T]AGAGAAGGATTTCAGGATGT	134254466	NM_001083603	.	.	.	.	43	83	59	120	1816	3965	1306	2598	Valid	
LB	PTCH1	SJCBF035	missense	I394V	rs139498131		0.000615101			T	B	N	Bronze		chr9	98241314	T	C	CCTCTGCCAGGCCTCCAGGA[T/C]GGCTGCCGCTTTGTCCTCGT	134254432	NM_001083603	.	.	.	.	33	69	35	78	2641	5337	490	936	Valid	
U	PTCH1	SJCBF139	missense	A411T	N/A		NA			T	B	N	Silver	PUBMED=16508594	chr9	98240450	C	T	CTTTTGAGTGGAGTTCTGTG[C/T]GACACTCTGATGAACCACCT	134254432	NM_001083603	.	.	.	.	41	85	31	64	636	1516	1368	2582	Valid	
U	PTCH1	SJCBF149	missense	V1083F	N/A		NA			D	D	M	Silver		chr9	98218614	C	A	AACAGAAGCGATCAGGATGA[C/A]CACGGGCACGGCACTGAGCT	134254432	NM_001083603	.	.	.	.	50	97	29	58	2339	4663	1217	2619	Valid	
U	PTCH1	SJEPD001502	nonsense	G1295*	N/A		NA			T			Gold		chr9	98209652	C	A	GGGCTGCTGGCCTTGCCGTC[C/A]GGGAGGCAGGGACCCTGAGT	134254432	NM_001083603	.	.	.	.	14	24	17	28	4017	5686	2740	5253	Valid	
U	PTCH1	SJERG007	missense	T671M	rs372219420		0.000153775			T	D	L	Silver		chr9	98231268	G	A	CGGTGGTGTAGTACACGTGC[G/A]TGTGGGGGTCGTACTCCGTG	134254432	NM_001083603	.	.	.	.	41	81	49	94	1810	3275	2969	5933	Valid	
U	PTCH1	SJERG010	missense	G1295R	rs372828014		NA			T	D	N	Silver		chr9	98209652	C	T	GGGCTGCTGGCCTTGCCGTC[C/T]GGGAGGCAGGGACCCTGAGT	134254432	NM_001083603	10	17	1	2	.	.	.	.	1810	3237	2115	3950	Valid	
LB	PTCH1	SJERG016	missense	T415S	rs201174718		NA	Yes		T	B	N	Bronze		chr9	98240437	G	C	TGAAGGAAAGCACCTTTTGA[G/C]TGGAGTTCTGTGCGACACTC	134254432	NM_001083603	17	43	13	30	46	80	32	65	3954	7545	2977	5745	Valid	
LB	PTCH1	SJETV041	missense	A166T	rs149547604		0.00030755			T	B	N	Bronze		chr9	98248052	C	T	TTCTGTGGTCAGGACATTAG[C/T]ACCTTCTTCTTTAGGGGTCT	134254432	NM_001083603	23	39	19	31	.	.	.	.	4459	8632	5492	10355	Valid	
LB	PTCH1	SJHGG094	missense	V1417I	rs369882883		0.000153775			T	B	N	Bronze		chr9	98209286	C	T	ATCCCTCCTCTCACACCGGA[C/T]GTGGAAAGGCACGTGGGGGT	134254432	NM_001083603	.	.	.	.	26	53	23	45	1841	3547	1527	2824	Valid	
LB	PTCH1	SJHGG102	missense	E723D	N/A		NA			T	B	N	Bronze		chr9	98231111	C	G	GTCCACTTCGTACAGGGGGG[C/G]TCGAGGCAGTGGAGGCTGGA	134254432	NM_001083603	21	36	14	24	.	.	.	.	533	1197	1661	3549	Valid	
LB	PTCH1	SJHGG117	missense	M832V	N/A		NA			T	B	N	Bronze		chr9	98229461	T	C	CTGTTTGTTTTCTTCCAACA[T/C]GACATACTTCACGTTACTGA	134254432	NM_001083603	.	.	.	.	8	20	8	17	951	1766	3038	6129	Valid	
LB	PTCH1	SJHYPER085	missense	R892C	N/A		NA			T	B	N	Bronze		chr9	98224164	G	A	GATGTCGATGGGCTTATCGC[G/A]GCTGCCGGTTTGCACCAGGA	134254432	NM_001083603	10	23	14	27	35	51	39	56	2394	4803	2421	4812	Valid	
LB	PTCH1	SJINF011	missense	R1296W	rs372027952		0.000154871			T	B	L	Bronze		chr9	98209649	G	A	GCGGGGCTGCTGGCCTTGCC[G/A]TCCGGGAGGCAGGGACCCTG	134254432	NM_001083603	15	27	6	11	.	.	.	.	234	510	1075	2657	Valid	
LB	PTCH1	SJLGG015	missense	T636I	rs369090032		0.000153775			T	B	N	Bronze		chr9	98231373	G	A	GAGGTGGGGGGCTGTAGCGG[G/A]TATTGTCGTGTGTGTCGGTG	134254432	NM_001083603	13	21	12	18	.	.	.	.	1437	2779	3517	6871	Valid	
LB	PTCH1	SJMB035	missense	S553N	rs148367880		0.000153775			T	B	N	Bronze		chr9	98238383	C	T	TGAAGAAGGCTGTGACATTG[C/T]TGATGGACGTGAGGGCCACG	134254446	NM_001083603	21	42	6	10	.	.	.	.	2380	4442	2389	4782	Valid	
LB	PTCH1	SJMLL020	missense	K463R	N/A		NA			T	B	N	Bronze		chr9	98239941	T	C	GCCCCACGGCACCCTGGGAC[T/C]TGGAGCAGTCCCAGCGCAGC	134254432	NM_001083603	.	.	.	.	14	28	20	36	1803	3325	2235	4183	Valid	
U	PTCH1	SJNBL137	missense	S826G	rs199476092		NA			T	B	N	Silver	PUBMED=11941477	chr9	98229479	T	C	CATGACATACTTCACGTTAC[T/C]GAAACTCCTGTGTAGGTCGT	134254432	NM_001083603	.	.	.	.	15	33	14	37	3150	8872	4092	8260	Valid	
U	PTCH1	SJNBL137	missense	D300N	N/A		NA			T	D	M	Silver		chr9	98242716	C	T	TGTGGCGGGGCAGTCTGGAT[C/T]GGCCGGATTGAGGCAGGGGC	134254432	NM_001083603	.	.	.	.	37	63	24	43	2267	3552	936	1870	Valid	
LB	PTCH1	SJOS001105	missense	R637H	rs145766839		0.000768876			T	P	L	Bronze		chr9	98231370	C	T	AGGGAGGTGGGGGGCTGTAG[C/T]GGGTATTGTCGTGTGTGTCG	134254432	NM_001083603	17	26	2	10	.	.	.	.	1799	2959	3722	7118	Valid	
LB	PTCH1	SJOS001123	missense	D435N	rs142274954		0.000615101			T	B	L	Bronze		chr9	98240378	C	T	CACGCGGATGACACTGACGT[C/T]AGAGAAGGATTTCAGGATGT	134254466	NM_001083603	12	38	9	18	.	.	.	.	2530	5606	1476	3297	Valid	
U	PTCH1	SJPHALL002	missense	V1204A	N/A		NA			T	D	L	Silver		chr9	98211541	A	G	CGGGCGGCATGGCGAAGCGG[A/G]CCACGCTGGGGGGTGGCTCA	134254432	NM_001083603	19	36	6	12	.	.	.	.	665	1711	517	1446	Valid	
LB	PTCH1	SJPHALL020	missense	P1306S	N/A		NA			T	B	L	Bronze		chr9	98209619	G	A	TGGCCACAAGCCTTCTCTGG[G/A]GGGGTCCCTGCGGGGCTGCT	134254432	NM_001083603	13	28	6	15	.	.	.	.	376	677	1568	3274	Valid	
LB	PTEN	SJBALL271	missense	N117S	N/A		NA				B	N	Bronze		chr10	89692866	A	G	ATGGCTAAGTGAAGATGACA[A/G]TCATGTTGCAGCAATTCACT	73765544	NM_000314	11	29	13	22	.	.	.	.	148	242	704	1575	Valid	
LB	PTEN	SJERG002	missense	E288K	N/A		NA				B	N	Silver		chr10	89720711	G	A	CAGGACCAGAGGAAACCTCA[G/A]AAAAAGTAGAAAATGGAAGT	73765544	NM_000314	22	36	12	26	.	.	.	.	231	529	497	958	Valid	
U	PTEN	SJNBL026	missense	P354Q	N/A		NA				P	N	Silver	PUBMED=21194675	chr10	89725078	C	A	CACAAAAACAGTAGAGGAGC[C/A]GTCAAATCCAGAGGCTAGCA	73765544	NM_000314	9	36	18	34	.	.	.	.	2108	4879	2546	4445	Valid	
LB	PTEN	SJNBL157	missense	S294R	rs143335584		0.00061529				B	L	Bronze		chr10	89720731	T	G	GAAAAAGTAGAAAATGGAAG[T/G]CTATGTGATCAAGAAATCGA	73765544	NM_000314	.	.	.	.	89	158	104	184	152	327	790	1564	Valid	
U	PTEN	SJTALL002	missense	A79T	rs202004587		NA	Yes			B	N	Silver	PUBMED=12372056	chr10	89690828	G	A	CTGAAAGACATTATGACACC[G/A]CCAAATTTAATTGCAGAGGT	73765544	NM_000314	11	31	20	39	.	.	.	.	4789	9133	6147	11036	Valid	
U	PTPN11	SJBALL021081	missense	G60V	N/A		NA	Yes	1	D	D	H	Silver	PUBMED=11992261	chr12	112888163	G	T	CATCAAGATTCAGAACACTG[G/T]TGATTACTATGACCTGTATG	33356177	NM_002834	.	.	.	.	25	87	25	69	500	1283	2048	4490	Valid	
U	PTPN11	SJEPD026	missense	N308D	rs28933386		0.000153775			D	B	H	Silver	PUBMED=11704759	chr12	112915523	A	G	TTTCAGATTACATCAATGCA[A/G]ATATCATCATGGTAAGCTTT	33356177	NM_002834	19	55	16	35	.	.	.	.	3563	7013	4687	8969	Valid	
LB	PTPN11	SJERG030	missense	T553M	rs148176616		0.000922651			T	P	N	Silver	PUBMED=18759865	chr12	112940006	C	T	GTATTCTCTAGCGGACCAGA[C/T]GAGTGGAGATCAGAGCCCTC	33356177	NM_002834	.	.	.	.	16	33	19	43	Sanger	Sanger	Sanger	Sanger	Valid	
U	PTPN11	SJETV095	missense	H287P	N/A		NA			D	P	H	Silver		chr12	112915461	A	C	TCTTTTTCTTCTAGTTGATC[A/C]TACCAGGGTTGTCCTACACG	33356177	NM_002834	20	38	28	46	.	.	.	.	2519	5585	2632	5506	Valid	
LB	PTPN11	SJEWS001312	missense	T553M	rs148176616		0.000922651			T	P	N	Silver	PUBMED=18759865	chr12	112940006	C	T	GTATTCTCTAGCGGACCAGA[C/T]GAGTGGAGATCAGAGCCCTC	33356177	NM_002834	23	48	17	29	.	.	.	.	3383	6329	4299	7946	Valid	
U	PTPN11	SJEWS010425	missense	L560F	N/A		NA			T	B	N	Silver	PUBMED=12960218	chr12	112940026	C	T	CGAGTGGAGATCAGAGCCCT[C/T]TCCCGCCTTGTACTCCAACG	33356177	NM_002834	.	.	.	.	18	35	14	30	N/A	N/A	N/A	N/A	Putative	
U	PTPN11	SJHYPO036	missense	G503R	N/A		NA			D	D	M	Silver	PUBMED=12960218	chr12	112926887	G	C	TGGTGCGGTCTCAGAGGTCA[G/C]GGATGGTCCAGACAGAAGCA	33356177	NM_002834	.	.	.	.	256	266	93	179	8271	8723	6574	14294	Valid	
LB	PTPN11	SJNBL190	missense	T553M	rs148176616		0.000922651			T	P	N	Silver	PUBMED=18759865	chr12	112940006	C	T	GTATTCTCTAGCGGACCAGA[C/T]GAGTGGAGATCAGAGCCCTC	33356177	NM_002834	16	34	9	21	.	.	.	.	5236	8653	2855	5479	Valid	
LB	PTPN11	SJOS001103	missense	T553M	rs148176616		0.000922651			T	P	N	Silver	PUBMED=18759865	chr12	112940006	C	T	GTATTCTCTAGCGGACCAGA[C/T]GAGTGGAGATCAGAGCCCTC	33356177	NM_002834	25	49	16	27	.	.	.	.	1977	4559	2134	3973	Valid	
LB	PTPN11	SJTALL070	missense	T553M	rs148176616		0.000922651			T	P	N	Silver	PUBMED=18759865	chr12	112940006	C	T	GTATTCTCTAGCGGACCAGA[C/T]GAGTGGAGATCAGAGCCCTC	33356177	NM_002834	.	.	.	.	15	38	16	29	6332	10939	6965	10790	Valid	
U	RAF1	SJCBF014	missense	Y574C	rs370242565		0.000153775			T	D	L	Silver		chr3	12626428	T	C	TTGCTTTGGGGCAGTTCTTA[T/C]ATAGCTTACTAAGATCTGGG	4506401	NM_002880	16	33	26	41	.	.	.	.						
U	RAF1	SJERG022	missense	N71S	rs184022679		0.000153775			T	B	M	Silver		chr3	12653557	T	C	AGCTCATTCCATTTCGCACA[T/C]TGACCTACAAACAAAGGACC	4506401	NM_002880	.	.	.	.	39	74	34	72						
U	RAF1	SJMB024	missense	N71S	rs184022679		0.000153775			T	B	M	Silver		chr3	12653557	T	C	AGCTCATTCCATTTCGCACA[T/C]TGACCTACAAACAAAGGACC	4506401	NM_002880	11	16	18	34	.	.	.	.						compound het
U	RAF1	SJMB024	missense	R40C						D	D	L	Silver		chr3	12660103	G	A	GCCATCATCTGATGCCCGGC[G/A]CTGATAGCCAAACTGCTGAA	4506401	NM_002880	9	25	22	29	.	.	.	.						compound het
U	RB1	*SJTALL009	missense	D856N	rs149359120		0.000768876			D	D	L	Silver		chr13	49050882	G	A	ATCAGATGGTATGTAACAGC[G/A]ACCGTGTGCTCAAAAGAAGT	108773787	NM_000321	0	25	16	31	.	.	.	.	2	307	1195	4888	Valid	
U	RB1	SJACT065	missense	R857H	rs144668210		0.000461326			T	D	L	Silver		chr13	49050886	G	A	GATGGTATGTAACAGCGACC[G/A]TGTGCTCAAAAGAAGTGCTG	108773787	NM_000321	9	29	14	24	.	.	.	.	1585	3036	2595	4531	Valid	
LB	RB1	SJEWS001319	missense	K80E	N/A		NA			T	B	L	Silver		chr13	48881516	A	G	GAGCTTGGTTAACTTGGGAG[A/G]AAGTTTCATCTGTGGATGGA	108773787	NM_000321	27	48	15	25	.	.	.	.	1698	3339	1244	2708	Valid	
LB	RB1	SJHGG115	missense	A18S	N/A		NA			T	B	N	Silver		chr13	48878100	G	T	CCACCGCCGCCGCTGCCGCC[G/T]CGGAACCCCCGGCACCGCCG	108773787	NM_000321	.	.	.	.	2	2	3	3	249	310	261	559	Valid	
U	RB1	SJMB035	missense	R798W	rs187912365		0.000153775			D	D	L	Silver	PUBMED=15884040	chr13	49039407	C	T	AGTTTCCTAGTTCACCCTTA[C/T]GGATTCCTGGAGGGAACATC	108773787	NM_000321	15	37	13	26	.	.	.	.	3670	7329	2324	4808	Valid	
U	RB1	SJNBL040	missense	R621H	rs373601944		0.00030755			T	D	L	Silver	"PUBMED=7795591,12114739,12541220,20594292"	chr13	49030387	G	A	GAAAAAAGGTTCAACTACGC[G/A]TGTAAATTCTACTGCAAATG	108773787	NM_000321	22	48	23	29	.	.	.	.	2548	4671	2563	5208	Valid	
U	RB1	SJNBL044	missense	D856N	rs149359120		0.000768876			D	D	L	Silver		chr13	49050882	G	A	ATCAGATGGTATGTAACAGC[G/A]ACCGTGTGCTCAAAAGAAGT	108773787	NM_000321	16	30	14	22	.	.	.	.	201	1519	662	2932	Valid	
U	RB1	SJPHALL020045	missense	F115L	N/A		NA			T	B	L	Silver		chr13	48916813	T	C	TTGACCTAGATGAGATGTCG[T/C]TCACTTTTACTGAGCTACAG	108773787	NM_000321	19	52	14	33	43	75	32	64	2189	4564	1226	2739	Valid	
LB	RET	SJAMLM7010480	missense	V351E	N/A		NA			D	P	L	Bronze		chr10	43602008	T	A	CAGCTTCGTGCGGGCGACCG[T/A]ACATGACTATAGTAAGAGGG	10862703	NM_020975	.	.	.	.	24	46	123	237	745	1298	2909	5610	Valid	
U	RET	SJBALL020595	missense	P60T	N/A		NA			T	B	L	Silver		chr10	43596011	C	A	TCCATGCCCTGCGGGACGCC[C/A]CTGAGGAGGTGCCCAGCTTC	10862703	NM_020975	14	35	7	21	.	.	.	.	139	309	468	949	Valid	
LB	RET	SJBALL021893	missense	V121I	N/A		NA			T	B	N	Bronze		chr10	43597813	G	A	GCGGCTTTCCCCTGCTCACC[G/A]TCTACCTCAAGGTCTTCCTG	10862703	NM_020975	16	28	15	31	.	.	.	.	226	532	1633	3600	Valid	
U	RET	SJBALL264	missense	T1038A	rs201740483		0.000615101			D	D	N	Silver		chr10	43622095	A	G	ACGGCCTCTCAGAGGAGGAG[A/G]CACCGCTGGTGGACTGTAAT	10862703	NM_020975	27	49	9	16	.	.	.	.	1558	2538	1054	1992	Valid	
U	RET	SJCBF022	missense	P1047S	N/A		NA			T	D	N	Silver		chr10	43622122	C	T	TGGTGGACTGTAATAATGCC[C/T]CCCTCCCTCGAGCCCTCCCT	10862703	NM_020975	14	24	15	29	.	.	.	.	873	1378	126	145	Valid	
U	RET	SJCBF137	missense	A510V	rs201745826		NA			T	B	L	Silver	PUBMED=20103606	chr10	43607553	C	T	TCTGCCACCTGCAGATGTGG[C/T]CGAGGAGGCGGGCTGCCCCC	10862703	NM_020975	.	.	.	.	19	28	15	32	1702	3469	1344	2627	Valid	
U	RET	SJEPD033	missense	K994N	rs199718928		NA			T	D	N	Silver		chr10	43620373	A	C	TGGAAGCAGGAGCCGGACAA[A/C]AGGCCGGTGTTTGCGGACAT	10862703	NM_020975	21	39	10	18	.	.	.	.	2174	4134	2587	4749	Valid	
U	RET	SJERG020299	missense	L1048F	N/A		NA			D	D	N	Silver		chr10	43622125	C	T	TGGACTGTAATAATGCCCCC[C/T]TCCCTCGAGCCCTCCCTTCC	10862703	NM_020975	18	51	8	17	.	.	.	.	2026	3039	2037	2985	Valid	
U	RET	SJETV079	missense	A641S	N/A		NA			T	D	M	Silver	PUBMED=15592804	chr10	43609969	G	T	GCCGCACGGTGATCGCAGCC[G/T]CTGTCCTCTTCTCCTTCATC	10862703	NM_020975	11	28	6	10	.	.	.	.	4121	11575	6648	12599	Valid	
U	RET	SJHGG041	missense	L375Q	rs142338976		0.000768876			T	D	M	Silver		chr10	43604539	T	A	CACCATGCAGCTGGCGGTGC[T/A]GGTCAATGACTCAGACTTCC	10862703	NM_020975	31	45	13	25	.	.	.	.	803	1561	1170	2386	Valid	
U	RET	SJHGG070	missense	D567N	rs147219360		0.000461326			D	D	M	Silver		chr10	43608351	G	A	CCAGCACCAAGACCTGCCCC[G/A]ACGGCCACTGCGATGTTGTG	10862703	NM_020975	.	.	.	.	15	26	9	21	1143	2364	861	1724	Valid	
U	RET	SJMB008	missense	K710R	N/A		NA			T	D	L	Silver		chr10	43610177	A	G	GGTCTCCGTGGATGCCTTCA[A/G]GATCCTGGTGAGGGTCCCTG	10862703	NM_020975	10	10	7	14	.	.	.	.	516	884	840	1757	Valid	
U	RET	SJPHALL004	missense	R114H	rs76397662		NA	Yes		T	B	N	Silver	PUBMED=12086152	chr10	43597793	G	A	CTGACTTCTCTCTGCAGACC[G/A]CGGCTTTCCCCTGCTCACCG	10862703	NM_020975	11	27	11	23	.	.	.	.	2377	4775	3078	6230	Valid	
U	RET	SJTALL065	missense	L375Q	rs142338976		0.000768876			T	D	M	Silver		chr10	43604539	T	A	CACCATGCAGCTGGCGGTGC[T/A]GGTCAATGACTCAGACTTCC	10862703	NM_020975	.	.	.	.	18	36	19	46	579	1311	2339	4272	Valid	
U	RUNX1	SJAMLM7010475	missense	P359R						D	D	M	Silver		chr21	36164799	G	C	TGCCGATGCCCGAGGTGACC[G/C]GCGTCGGGGAGTAGGTGAAG	19923198	NM_001754	.	.	.	.	3	24	3	5	294	697	1153	2130	Valid	
U	RUNX1	SJBALL021372	missense	M25K	rs200431130		0.00093794			D	D	M	Silver		chr21	36259336	A	T	CCAGCGGCAACGCCTCGCTC[A/T]TCTTGCCTGGGCTCAGCGCG	49574546	NM_001001890	.	.	.	.	75	125	71	149	343	599	1272	2551	Valid	
U	RUNX1	SJBALL271	missense	E223G						T	D	M	Silver		chr21	36206844	T	C	GCTCCAGTTCACTGAGCCGC[T/C]CGGAAAAGGACAAGCTCCCG	19923198	NM_001754	102	109	8	20	.	.	.	.	43	48	592	1181	Valid	
U	RUNX1	SJHYPO040	missense	M25K	rs200431130		0.00093794			D	D	M	Silver		chr21	36259336	A	T	CCAGCGGCAACGCCTCGCTC[A/T]TCTTGCCTGGGCTCAGCGCG	49574546	NM_001001890	15	29	10	21	.	.	.	.	147	323	1034	2181	Valid	
LB	RUNX1	SJRHB037	missense	R233H	rs150042294		0.000461326			T	D	L	Silver		chr21	36206814	C	T	GGCTGACCCTCATGGCTGTG[C/T]GCCGCAGCTGCTCCAGTTCA	19923198	NM_001754	.	.	.	.	21	68	23	49	99	389	425	767		
U	SDHAF2	SJCBF124	missense	Y105N	N/A		NA			D	D	H	Silver		chr11	61205528	T	A	CAGAAAAGCAGCTGAACCTC[T/A]ATGACCGCCTGATTAACGAG	8923450	NM_017841	.	.	.	.	64	138	44	90	3161	6373	509	1201	Valid	
U	SDHAF2	SJE2A012	missense	R33C	rs144867876		0.000769112			T	B	M	Silver		chr11	61205157	C	T	TCAGTGTGACATCATTCAGA[C/T]GCTTCTACAGAGGTGACAGC	8923450	NM_017841	25	54	10	26	.	.	.	.	4785	8845	1571	2778	Valid	
U	SMAD4	SJHGG073	missense	P198R						D	D	L	Silver		chr18	48581289	C	G	GACAGAGACATACAGCACCC[C/G]AGCTCTGTTAGCCCCATCTG	4885457	NM_005359	.	.	.	.	21	44	18	56						
U	SMARCA4	SJBALL204	missense	T565M						D	D	M	Silver		chr19	11106989	C	T	CGAGTACGTGGCTAACCTCA[C/T]GGAGCTGGTGCGGCAGCACA	21071056	NM_003072	.	.	.	.	82	169	114	233						
U	SMARCA4	SJEWS001316	missense	I378V						D	B	M	Silver		chr19	11100006	A	G	CTCCCAGGCTGCAGGCTCGC[A/G]TCGCACACCGAATTCAGGAA	21071056	NM_003072	17	29	9	18	.	.	.	.						
U	SOS1	SJACT015	missense	Y215H						D	P	M	Silver		chr2	39281832	A	G	TAGATTTAGTTCCCTTATAT[A/G]TTGTCGAATTTCTGCCATAA	15529996	NM_005633	.	.	.	.	36	53	44	88						
U	SOS1	SJCBF107	missense	L791F						D	D	M	Silver		chr2	39239286	G	A	CCGGTATAGATCTGATTCAA[G/A]TAAAGTGAGTTGTCGAGCAA	15529996	NM_005633	.	.	.	.	60	129	48	102						
U	SOS1	SJERG011	missense	I82V						T	D	M	Silver		chr2	39285915	T	C	AGCTATTGCCCATTTATCAA[T/C]TGGATGAGGGAAACTTTTTT	15529996	NM_005633	31	61	20	41	.	.	.	.						
U	SOS1	SJMB009	missense	P1237A	rs371408734		0.00030755			T	D	L	Silver		chr2	39213258	G	C	GTCACTTTTTTTGCCCAAAG[G/C]GGGAGGTTGGAGATGTAGTG	15529996	NM_005633	14	36	18	28	.	.	.	.						
U	SOS1	SJOS001105	missense	I94V	rs144757941		0.000461396			D	B	M	Silver		chr2	39285879	T	C	TCTTCGCTTCCTCTTTTCAA[T/C]AGCTGATTGGGCATCAGCTA	15529996	NM_005633	22	60	12	22	.	.	.	.						
LB	STK11	SJAMLM7013	missense	T24M	N/A		NA			T	P	L	Bronze		chr19	1206983	C	T	GATGTCGGTGGGTATGGACA[C/T]GTTCATCCACCGCATCGACT	4507271	NM_000455	6	13	3	3	.	.	.	.	337	723	1700	3350	Valid	
LB	STK11	SJHGG033	missense	E14G	N/A		NA			D	B	L	Bronze		chr19	1206953	A	G	GCAGCTGGGCATGTTCACGG[A/G]GGGCGAGCTGATGTCGGTGG	4507271	NM_000455	4	19	7	17	.	.	.	.	56	129	338	629	Valid	
LB	STK11	SJLGG032	missense	F298L	rs199681533		0.000996512	Yes		T	B	N	Bronze		chr19	1221979	C	A	TACGAACCGGCCAAGAGGTT[C/A]TCCATCCGGCAGATCCGGCA	4507271	NM_000455	5	13	7	9	.	.	.	.	1380	2798	1579	3215	Valid	
U	STK11	SJMB011	missense	D343N	rs368547224		0.00015625			T	B	M	Silver		chr19	1223090	G	A	CTGTGGTGCCGTACTTGGAG[G/A]ACCTGCACGGCGCGGACGAG	4507271	NM_000455	14	22	7	12	.	.	.	.	43	166	1257	2816	Valid	
U	SUFU	SJACT067	missense	G294S	rs143807689		0.000461326			T	D	L	Silver		chr10	104357020	G	A	ACAGCCGGAGCATCTGCATC[G/A]GCACACAGCCCCGGCGACTC	19923479	NM_016169	14	27	15	24	.	.	.	.						
U	SUFU	SJHGG016	proteinIns	DEDinsS288									Silver		chr10	104357002	-	GACGAGGAC	TGACGAGGAC(--------->GACGAGGAC)AGCCGGAGCA			8	13	9	24										
U	SUFU	SJHGG069	missense	I57M						T	D	L	Silver		chr10	104264080	C	G	CCGCTCCAGGTTACCGCTAT[C/G]GTCAAGTACTGGTATGCTCT	19923479	NM_016169	12	22	6	23	.	.	.	.						
U	SUFU	SJHGG093	missense	P482L						T	D	N	Silver		chr10	104389902	C	T	TGACGTGGTGTTCGACAGTC[C/T]GCTACACTAGCCTGGGCTGG	19923479	NM_016169	.	.	.	.	18	33	12	30						
U	SUFU	SJNBL027	missense	Y397C						D	D	L	Silver		chr10	104377079	A	G	GCATGGACGGCACTTTACAT[A/G]TAAAAGTATCACAGGTGACA	19923479	NM_016169	13	24	19	30	.	.	.	.						
U	TP53	SJE2A024	missense	I50T	rs370502517		0.000153775			T	B	N	Silver		chr17	7579538	A	G	CTTCAGTGAACCATTGTTCA[A/G]TATCGTCCGGGGACAGCATC	120407068	NM_000546	17	39	10	25	117	217	87	166	1350	2840	1462	2995	Valid	
B	TP53	SJERG016	splice_region	R306_E9splice	rs34361146		NA						Silver	"PUBMED=7706467,9067756,19930417"	chr17	7576931	G	A	GTGTTGTTGGGCAGTGCTAG[G/A]AAAGAGGCAAGGAAAGGTGA	120407068	NM_000546	30	56	14	31	38	76	38	79	2765	5447	1529	2969	Valid	
U	TP53	SJNBL197	missense	S345L	N/A		NA			D	D		Silver		chr17	7576544	G	A	CAATATTTTCAACTTACGAC[G/A]AGTTTATCAGGAAGTAACAC	187830823	NM_001126113	25	54	15	35	.	.	.	.	1594	3241	3233	6323	Valid	
U	TP53	SJOS018	missense	G360A	rs35993958		0.000615101			T	B	M	Silver		chr17	7573948	C	G	TGGAGTGAGCCCTGCTCCCC[C/G]CTGGCTCCTTCCCAGCCTGG	120407068	NM_000546	16	31	15	20	.	.	.	.	1958	3544	1052	1944	Valid	
U	TSC1	SJACT065	missense	Q654E	rs75820036		NA			T	B	L	Silver	PUBMED=10570911	chr9	135781005	G	C	GTGCGCGTCTGCTCCCTGCT[G/C]TATCAGTCTGTCCAGCACTT	4507693	NM_000368	20	35	9	22	.	.	.	.	7270	14383	6752	13341	Valid	
U	TSC1	SJCBF122	missense	R22W	N/A		NA			D	D	L	Silver		chr9	135804196	G	A	GACAGCTGTCACGTCGTCCC[G/A]CACACCCAGCATGGGGGAGT	4507693	NM_000368	.	.	.	.	23	54	24	41	556	1177	1364	2628	Valid	
LB	TSC1	SJE2A062	missense	S530T	rs368481360		0.00030755			D	B	L	Bronze		chr9	135781376	C	G	GTAAAGGCTCAGGGTTCACG[C/G]TGGCGCCCTGAGAACTGGAG	4507693	NM_000368	.	.	.	.	13	27	45	91	336	615	1571	2980	Valid	
U	TSC1	SJE2A066	missense	S334L	rs118203481		0.000615101			T	B	L	Silver	PUBMED=9328481	chr9	135786868	G	A	GTTCAGTTATCAGCCGTGTC[G/A]ATGGGGAACTCAGAGTCTGA	4507693	NM_000368	.	.	.	.	45	100	58	108	2417	4771	3063	5812	Valid	
U	TSC1	SJERG020300	missense	Q109E	N/A		NA			T	B	L	Silver	PUBMED=15798777	chr9	135801012	G	C	AGAAGGCAAAAGAGGTGCTT[G/C]AGAGAGCTTATGCTTCCAAG	4507693	NM_000368	20	56	27	46	.	.	.	.	647	1141	2448	4953	Valid	
U	TSC1	SJEWS010365	missense	G544E	N/A		NA			T	D	M	Silver		chr9	135781334	C	T	CTTGCTTTGGTGTGTCAGGC[C/T]CAAGCTTGTCCAGGGAGGAG	4507693	NM_000368	12	33	11	21	.	.	.	.	N/A	N/A	N/A	N/A	Putative	
U	TSC1	SJEWS010367	missense	Q654E	rs75820036		NA			T	B	L	Silver	PUBMED=10570911	chr9	135781005	G	C	GTGCGCGTCTGCTCCCTGCT[G/C]TATCAGTCTGTCCAGCACTT	4507693	NM_000368	14	29	5	12	.	.	.	.	N/A	N/A	N/A	N/A	Putative	
LB	TSC1	SJHYPO002	missense	S1147G	N/A		NA			T	B	L	Bronze		chr9	135771678	T	C	GATATGTAGCTGTCCAACAC[T/C]GTCCGGGGTCGGGGGAGACG	4507693	NM_000368	2	25	16	33	.	.	.	.	284	4935	1998	3932	Valid	
LB	TSC1	SJNBL010	missense	G443V	N/A		NA			T	P	L	Bronze		chr9	135782693	C	A	ACGCAGAAATTTTACCTGAT[C/A]CTCTGTCATTCAGAAGATGG	4507693	NM_000368	16	37	16	28	.	.	.	.	3239	5642	4988	8875	Valid	
U	TSC1	SJPHALL020034	missense	A567V	N/A		NA			T	B	M	Silver		chr9	135781265	G	A	TCTGGCATTCCCTGTCTCCC[G/A]CAGGGCTTTCATCAGCACTG	4507693	NM_000368	26	58	13	30	45	102	39	82	2054	4413	1237	2264	Valid	
LB	TSC1	SJRHB031	missense	A1129V	N/A		NA			T	B	N	Bronze		chr9	135771731	G	A	CTAGGTTCAGGGGAATCTTG[G/A]CTTCCACACCCAAGTCTTTG	4507693	NM_000368	.	.	.	.	33	70	36	69	3558	6927	1042	1630	Valid	
LB	TSC2	SJACT064	missense	D1339N	rs147719291		0.000154345			T	P	N	Bronze		chr16	2134439	G	A	GGGACCCTGGGGACAAGGCC[G/A]ACGTGGGCCGGCTGAGCCCT	116256350	NM_001077183	20	39	10	19	.	.	.	.	498	874	2201	4448	Valid	
LB	TSC2	SJACT066	missense	A357V	rs150195368		0.000615574			T	B	N	Silver		chr16	2110765	C	T	GAAGGAGCTCCAGGTGGTGG[C/T]GTGGGACATTCTGCTGAACA	116256350	NM_001077183	7	14	15	21	.	.	.	.	2400	7292	752	1662	Valid	
U	TSC2	SJBALL036	missense	L921V	rs201835391		NA			T	D	L	Silver		chr16	2126510	C	G	AGGGCCTGCGGTCCAATGTC[C/G]TCTTGTCTTTTGATGACACC	116256350	NM_001077183	.	.	.	.	37	76	26	59	123	242	291	591	Valid	
LB	TSC2	SJEPD001506	missense	S1298L	rs377123510		0.000154012			T	P	N	Bronze		chr16	2134317	C	T	CATCGAGCGAGTCGTCTCCT[C/T]GGAGGGTGGCCGGCCCTCTG	116256350	NM_001077183	.	.	.	.	19	29	39	57	718	1502	2517	4977	Valid	
LB	TSC2	SJEPD001518	missense	R1567C	N/A		NA			T	P	L	Bronze		chr16	2136783	C	T	CCAAGGACGTGGACAAGCAC[C/T]GCTGCGACAAGAAGCGCCAC	116256350	NM_001077183	.	.	.	.	18	39	12	31	974	1993	741	1901	Valid	
U	TSC2	SJEPD007	missense	K125R	N/A		NA			T	D	N	Silver		chr16	2104334	A	G	CCTCAGAGCCCTCTTCTTTA[A/G]GGTCATCAAGGATTACCCTT	116256350	NM_001077183	29	49	7	17	.	.	.	.	452	925	1726	3549	Valid	
U	TSC2	SJETV022	missense	D647N	rs45509392		0.000153894			T	D	M	Silver	PUBMED=10570911	chr16	2121610	G	A	TCAGCCCCTACTGCGTCTGC[G/A]ACTACATGTACGCGGGACCT	116256350	NM_001077183	16	30	4	7	.	.	.	.	2317	4716	3473	6838	Valid	
U	TSC2	SJEWS010369	missense	R917Q	N/A		NA			T	D	N	Silver		chr16	2126499	G	A	CTCACTCTGCCAGGGCCTGC[G/A]GTCCAATGTCCTCTTGTCTT	116256350	NM_001077183	7	20	5	12	.	.	.	.	N/A	N/A	N/A	N/A	Putative	
U	TSC2	SJHGG019	missense	P1699S	N/A		NA			T	D	N	Silver		chr16	2138483	C	T	CCTACTCCAACCCCAGCCTA[C/T]CTCTGGTGCACCCTCCGTCC	116256350	NM_001077183	12	34	8	21	.	.	.	.	1050	2830	2161	4510	Valid	
U	TSC2	SJHGG051	missense	S132C	rs137854391		NA			T	D	N	Silver		chr16	2104355	C	G	GGTCATCAAGGATTACCCTT[C/G]CAACGAAGACCTTCACGAAA	116256350	NM_001077183	.	.	.	.	22	44	44	87	404	805	1803	3495	Valid	
U	TSC2	SJHGG051	missense	F143L	rs137854406		NA			T	D	N	Silver		chr16	2104389	C	G	CACGAAAGGCTGGAGGTTTT[C/G]AAGGCCCTCACAGACAATGG	116256350	NM_001077183	.	.	.	.	21	44	39	75	2578	5107	2233	4261	Valid	
U	TSC2	SJHGG101	missense	S174L	N/A		NA			T	D	L	Silver		chr16	2105442	C	T	GATGGATGTTGGCTTGTCCT[C/T]GGAATTCCTTCTGGTGCTGG	116256350	NM_001077183	14	35	16	24	.	.	.	.	3153	5916	2857	5526	Valid	
U	TSC2	SJINF017	missense	E1689K	rs375075952		0.000153965			T	D	L	Silver		chr16	2138453	G	A	GCCTCTGCCTTCAGATCTGC[G/A]AGGAAGCCGCCTACTCCAAC	116256350	NM_001077183	15	26	9	15	.	.	.	.	54	134	1177	2299	Valid	
U	TSC2	SJMB025	missense	R245C	rs375574283		0.000153894			D	D	M	Silver		chr16	2106729	C	T	TGTTCATCGTTACCCTCTGT[C/T]GCACCATCAACGTCAAGGAG	116256352	NM_001077183	6	12	6	13	.	.	.	.	3506	6816	4579	8964	Valid	
LB	TSC2	SJMB036	missense	H435Y	N/A		NA			T	B	L	Bronze		chr16	2112543	C	T	CCTATAGAGCGCAGTCCATC[C/T]ACCCGGCCAAGGACGGCTGG	116256352	NM_001077183	8	24	11	20	.	.	.	.	2537	6947	3156	6671	Valid	
LB	TSC2	SJOS012	missense	G682E	N/A		NA			T	P	L	Bronze		chr16	2121883	G	A	AGGCCCCGCCGTGCGGCTGG[G/A]GTCCGTGCCCTACTCCCTGC	116256350	NM_001077183	10	19	7	11	.	.	.	.	389	783	1531	3056	Valid	
LB	TSC2	SJPHALL020041	missense	P330L	rs140910086		0.000307787			T	P	N	Bronze		chr16	2110684	C	T	GTTCCAGGCCATGGCATGTC[C/T]GAACGAGGTGGTGTCCTATG	116256350	NM_001077183	20	47	11	24	21	45	23	44	1842	2972	368	830	Valid	
U	TSC2	SJRHB009	missense	S1269L	rs148527903		0.000928218			T	D	L	Silver		chr16	2134230	C	T	TTGGGATGGTCCTTTCTAGT[C/T]GTCCTCAGTCTCCAGCCAGG	116256352	NM_001077183	3	13	5	15	.	.	.	.	63	173	2288	4545	Valid	
LB	VHL	SJAMLM7012	missense	N193S	N/A		NA			T	B	N	Bronze		chr3	10191585	A	G	AGATCTGGAAGACCACCCAA[A/G]TGTGCAGAAAGACCTGGAGC	4507891	NM_000551	10	19	12	27	74	165	63	154	4002	8347	3307	7164	Valid	
LB	VHL	SJHGG061	missense	A56G	N/A		NA			T	B	L	Bronze		chr3	10183698	C	G	CGCCGAGGAGGAGATGGAGG[C/G]CGGGCGGCCGCGGCCCGTGC	4507891	NM_000551	.	.	.	.	7	18	1	7	1749	4002	1663	3447	Valid	
LB	VHL	SJLGG012	missense	R210Q	rs138780791		0.000153775			T	B	N	Bronze		chr3	10191636	G	A	GGAGCGCATTGCACATCAAC[G/A]GATGGGAGATTGAAGATTTC	4507891	NM_000551	27	60	10	20	.	.	.	.	3189	6358	3206	6296	Valid	
LB	VHL	SJMB037	missense	E10K	N/A		NA			D	P	N	Bronze		chr3	10183559	G	A	GGAGGGCGGAGAACTGGGAC[G/A]AGGCCGAGGTAGGCGCGGAG	4507891	NM_000551	5	13	6	8	.	.	.	.	2171	4132	2637	5049	Valid	
U	VHL	SJNBL004	missense	L101V	N/A		NA			D	P	M	Silver	PUBMED=8956040	chr3	10183832	C	G	AGCCGCAGCCCTACCCAACG[C/G]TGCCGCCTGGCACGGGCCGC	4507891	NM_000551	9	13	8	18	.	.	.	.	1818	3059	1632	2743	Valid	
LB	VHL	SJOS014	missense	P81S	rs104893829		0.000780762	Yes		T	P	L	Silver	PUBMED=8634692	chr3	10183772	C	T	TCATCTTCTGCAATCGCAGT[C/T]CGCGCGTCGTGCTGCCCGTA	4507891	NM_000551	3	5	4	8	.	.	.	.	2557	4673	1948	3736	Valid	
LB	WT1	SJBALL021514	missense	F222L	N/A		NA			T	B	N	Bronze		chr11	32450146	G	C	CCGTAGCTGGGCGTCCCGTC[G/C]AAGGTGACCGTGCTGTAACC	65508004	NM_024426	.	.	.	.	61	102	65	110	301	878	845	1717	Valid	
LB	WT1	SJHGG079	missense	P232L	N/A		NA	Yes		D	P	L	Bronze		chr11	32450117	G	A	ACTGCGCCGCATGGTGCGAG[G/A]GCGTGTGACCGTAGCTGGGC	65508004	NM_024426	.	.	.	.	40	85	29	127	623	1107	1783	3824	Valid	
U	WT1	SJOS001108	missense	G224R	N/A		NA			D	D	L	Silver		chr11	32450142	C	T	GTGACCGTAGCTGGGCGTCC[C/T]GTCGAAGGTGACCGTGCTGT	65508004	NM_024426	6	6	13	23	.	.	.	.	461	601	971	1949	Valid	
LP	MUTYH	SJE2A028	splice	V309_E11splice	rs77542170	none	NA						Gold	PUBMED=15180946	chr1	45797760	T	C	AGAGCTGTTCCTGCTCCACC[T/C]GAGAGGCACAGGGTTGAGTG	6912520	NM_012222	.	.	.	.	104	213	57	135	3955	7325	3453	6576	Valid	
P	MUTYH	SJEWS010375	frameshift	A379fs	N/A	none	NA						Gold	PUBMED=12606733	chr1	45797374	G	-	GGCCCCAAGG(G>-)CCCCAGGCTG	6912520	NM_012222	22	68	12	40	.	.	.	.	N/A	N/A	N/A	N/A	Putative	
LP	MUTYH	SJMB016	splice	V309_E11splice	rs77542170	none	NA						Gold	PUBMED=15180946	chr1	45797760	T	C	AGAGCTGTTCCTGCTCCACC[T/C]GAGAGGCACAGGGTTGAGTG	6912520	NM_012222	13	19	11	18	.	.	.	.	2713	5266	1474	2686	Valid	
U	MUTYH	SJAMLM7010	missense	R361H	N/A		NA			D	D	M	Silver		chr1	45797428	C	T	TCTCCTCCCTGGGGGGCTTG[C/T]GGCTGGCCTTTCTGGGGAAG	115298648	NM_012222	.	.	.	.	20	35	7	20	1111	2281	2962	5968	Valid	
U	MUTYH	SJE2A060	missense	V231M	rs200165598		0.00030755			D	P	M	Silver	PUBMED=14991577	chr1	45798151	C	T	TGCTACGTTGCCATCCACCA[C/T]ACCGGTTGCCTGGCACAGAG	6912520	NM_012222	19	41	16	27	.	.	.	.	4174	7832	3658	6898	Valid	
U	MUTYH	SJEWS001320	missense	S343W	N/A		NA			D	D	M	Silver		chr1	45797482	G	C	GGGTCTGGTCCCAGGGCTCC[G/C]AGGGAGGCAGGCACAGGTGG	6912520	NM_012222	17	33	11	23	.	.	.	.	596	1247	2524	5138	Valid	
U	MUTYH	SJEWS010369	proteinDel	Q475_E476>Q	N/A		NA						Silver	PUBMED=12707038	chr1	45796894	TCC	-	GTGAAATTCC(TCC>---)TGCGTCAGCC	6912520	NM_012222	12	37	10	34	.	.	.	.	N/A	N/A	N/A	N/A	Putative	
B	MUTYH	SJHYPO041	missense	V326M	rs147718169		0.00030755			D	P	M	Silver		chr1	45797707	C	T	GTGCTCACCACACTCCTCCA[C/T]GTCAGGACTGCCCGACAGGC	6912520	NM_012222	.	.	.	.	38	39	46	92	436	458	1306	2763	Valid	
U	MUTYH	SJLGG036	missense	L417M	rs144079536		0.000922651			T	B	M	Silver		chr1	45797157	G	T	ACGCTGTAGTTCCTGCAGCA[G/T]GGCCTTGCGCTGAAGCTGCT	6912520	NM_012222	12	25	13	21	.	.	.	.	2621	4637	3777	7037	Valid	
U	MUTYH	SJOS017	missense	A416D	N/A		0.000153775			T	B	M	Silver		chr1	45797159	G	T	GCTGTAGTTCCTGCAGCAGG[G/T]CCTTGCGCTGAAGCTGCTCT	6912520	NM_012222	7	17	6	10	.	.	.	.	68	153	1834	3548	Valid	
