Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_Position	Strand	Consequence	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_File	Sequencer	t_ref_count	t_alt_count	n_ref_count	n_alt_count	HGVSc	HGVSp	HGVSp_Short	Transcript_ID	RefSeq	Protein_position	Codons	Hotspot	n_depth	t_depth
PHLPP1	0	John_Hopkins	GRCh37	18	60527705	60527705	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000262719.5:c.1937G>C	p.Cys646Ser	p.C646S	ENST00000262719		646	tGt/tCt	0	0	0
C6orf10	0	John_Hopkins	GRCh37	6	32261792	32261792	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000447241.2:c.658G>A	p.Asp220Asn	p.D220N	ENST00000447241	NM_006781.3	220	Gat/Aat	0	0	0
PREB	0	John_Hopkins	GRCh37	2	27354945	27354945	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000260643.2:c.932C>G	p.Ser311Cys	p.S311C	ENST00000260643	NM_013388.4	311	tCc/tGc	0	0	0
LAMA2	0	John_Hopkins	GRCh37	6	129799900	129799900	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000421865.2:c.7514C>T	p.Pro2505Leu	p.P2505L	ENST00000421865	NM_001079823.1	2505	cCg/cTg	0	0	0
GCKR	0	John_Hopkins	GRCh37	2	27741716	27741716	+	missense_variant	Missense_Mutation	SNP	T	T	G	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000264717.2:c.1484T>G	p.Val495Gly	p.V495G	ENST00000264717	NM_001486.3	495	gTg/gGg	0	0	0
ADCK3	0	John_Hopkins	GRCh37	1	227152719	227152719	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000366777.3:c.196G>A	p.Glu66Lys	p.E66K	ENST00000366777	NM_020247.4	66	Gaa/Aaa	0	0	0
ZNF366	0	John_Hopkins	GRCh37	5	71757286	71757286	+	missense_variant	Missense_Mutation	SNP	A	A	C	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000318442.5:c.38T>G	p.Val13Gly	p.V13G	ENST00000318442	NM_152625.1	13	gTg/gGg	0	0	0
CD79A	0	John_Hopkins	GRCh37	19	42383635	42383635	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000221972.3:c.410G>T	p.Gly137Val	p.G137V	ENST00000221972	NM_021601.3	137	gGg/gTg	0	0	0
SETD1B	0	John_Hopkins	GRCh37	12	122265698	122265698	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000604567.1:c.5527G>A	p.Ala1843Thr	p.A1843T	ENST00000604567		1843	Gcc/Acc	0	0	0
CSMD2	0	John_Hopkins	GRCh37	1	34401431	34401431	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000241312.4:c.522C>G	p.His174Gln	p.H174Q	ENST00000241312		174	caC/caG	0	0	0
MVP	0	John_Hopkins	GRCh37	16	29859306	29859306	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000357402.5:c.2678G>A	p.Arg893His	p.R893H	ENST00000357402	NM_017458.3	893	cGc/cAc	0	0	0
BMPR1B	0	John_Hopkins	GRCh37	4	96069948	96069948	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000264568.4:c.1126C>T	p.Arg376Cys	p.R376C	ENST00000264568	NM_001256794.1	376	Cgc/Tgc	0	0	0
KIF23	0	John_Hopkins	GRCh37	15	69732289	69732289	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000260363.4:c.1760G>A	p.Arg587His	p.R587H	ENST00000260363	NM_138555.3	587	cGc/cAc	0	0	0
NFE2L1	0	John_Hopkins	GRCh37	17	46128959	46128959	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000362042.3:c.485delC	p.Pro162GlnfsTer6	p.P162Qfs*6	ENST00000362042	NM_003204.2	160	gCc/gc	0	0	0
RBM27	0	John_Hopkins	GRCh37	5	145613133	145613133	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000265271.5:c.971C>T	p.Pro324Leu	p.P324L	ENST00000265271	NM_018989.1	324	cCt/cTt	0	0	0
PEX1	0	John_Hopkins	GRCh37	7	92130838	92130838	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000248633.4:c.2566A>G	p.Ile856Val	p.I856V	ENST00000248633	NM_000466.2	856	Atc/Gtc	0	0	0
ALDH9A1	0	John_Hopkins	GRCh37	1	165652241	165652241	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000354775.4:c.434C>T	p.Ala145Val	p.A145V	ENST00000354775	NM_000696.3	145	gCg/gTg	0	0	0
MYLIP	0	John_Hopkins	GRCh37	6	16144006	16144006	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000356840.3:c.739A>G	p.Asn247Asp	p.N247D	ENST00000356840	NM_013262.3	247	Aac/Gac	0	0	0
ZNF292	0	John_Hopkins	GRCh37	6	87970954	87970954	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000369577.3:c.7613delA	p.Asn2538MetfsTer21	p.N2538Mfs*21	ENST00000369577	NM_015021.1	2536	gAa/ga	0	0	0
C4orf6	0	John_Hopkins	GRCh37	4	5527116	5527116	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000195455.2:c.68del	p.Phe23SerfsTer59	p.F23Sfs*59	ENST00000195455	NM_005750.2	20	aTt/at	0	0	0
ASXL1	0	John_Hopkins	GRCh37	20	31022442	31022442	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000375687.4:c.1934delG	p.Gly645ValfsTer58	p.G645Vfs*58	ENST00000375687	NM_015338.5	643	Ggg/gg	0	0	0
TMEM59L	0	John_Hopkins	GRCh37	19	18727842	18727842	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000262817.3:c.599delG	p.Gly200AlafsTer8	p.G200Afs*8	ENST00000262817	NM_012109.2	198	caG/ca	0	0	0
CSDE1	0	John_Hopkins	GRCh37	1	115268976	115268976	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000358528.4:c.1496C>G	p.Pro499Arg	p.P499R	ENST00000358528	NM_001007553.2	499	cCt/cGt	0	0	0
ALS2	0	John_Hopkins	GRCh37	2	202626116	202626116	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000264276.6:c.601C>T	p.Arg201Ter	p.R201*	ENST00000264276	NM_020919.3	201	Cga/Tga	0	0	0
MTNR1A	0	John_Hopkins	GRCh37	4	187455421	187455421	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000307161.5:c.475G>A	p.Val159Ile	p.V159I	ENST00000307161	NM_005958.3	159	Gtc/Atc	0	0	0
ZEB2	0	John_Hopkins	GRCh37	2	145187401	145187401	+	missense_variant	Missense_Mutation	SNP	C	C	G	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000409487.3:c.266G>C	p.Arg89Thr	p.R89T	ENST00000409487		89	aGg/aCg	0	0	0
RFPL2	0	John_Hopkins	GRCh37	22	32586936	32586936	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000248983.4:c.690delT	p.Phe230LeufsTer38	p.F230Lfs*38	ENST00000248983	NM_001159545.1	230	ttT/tt	0	0	0
STAG3	0	John_Hopkins	GRCh37	7	99808774	99808776	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000317296.5:c.3384_3386del	p.Glu1128del	p.E1128del	ENST00000317296	NM_012447.2	1127	GAA/-	0	0	0
EEFSEC	0	John_Hopkins	GRCh37	3	128127014	128127014	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000254730.6:c.1703G>A	p.Arg568Gln	p.R568Q	ENST00000254730	NM_021937.3	568	cGg/cAg	0	0	0
KIRREL2	0	John_Hopkins	GRCh37	19	36357270	36357270	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000360202.5:c.2003G>A	p.Arg668Gln	p.R668Q	ENST00000360202	NM_032123.5	668	cGa/cAa	0	0	0
MARCH10	0	John_Hopkins	GRCh37	17	60799893	60799893	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000311269.5:c.2170G>A	p.Asp724Asn	p.D724N	ENST00000311269	NM_152598.2	724	Gac/Aac	0	0	0
DNAH6	0	John_Hopkins	GRCh37	2	84960619	84960619	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000237449.6:c.10258G>T	p.Ala3420Ser	p.A3420S	ENST00000237449		3420	Gca/Tca	0	0	0
GLRA4	0	John_Hopkins	GRCh37	X	102962361	102962361	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000372617.4:c.1165C>G	p.Pro389Ala	p.P389A	ENST00000372617	NM_001024452.2	389	Cca/Gca	0	0	0
KCNS2	0	John_Hopkins	GRCh37	8	99440540	99440540	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000287042.4:c.333del	p.Asn111LysfsTer18	p.N111Kfs*18	ENST00000287042	NM_020697.2	111	aaC/aa	0	0	0
MYH7	0	John_Hopkins	GRCh37	14	23902818	23902818	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000355349.3:c.124G>A	p.Asp42Asn	p.D42N	ENST00000355349	NM_000257.2	42	Gac/Aac	0	0	0
AFF1	0	John_Hopkins	GRCh37	4	87967869	87967869	+	missense_variant	Missense_Mutation	SNP	C	C	G	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000307808.6:c.161C>G	p.Ser54Cys	p.S54C	ENST00000307808	NM_005935.2	54	tCt/tGt	0	0	0
IFT122	0	John_Hopkins	GRCh37	3	129236404	129236404	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000348417.2:c.3358C>T	p.Arg1120Trp	p.R1120W	ENST00000348417	NM_052989.2	1120	Cgg/Tgg	0	0	0
PIGX	0	John_Hopkins	GRCh37	3	196449327	196449327	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000392391.3:c.218A>G	p.Asp73Gly	p.D73G	ENST00000392391		73	gAc/gGc	0	0	0
CTAGE1	0	John_Hopkins	GRCh37	18	19997702	19997702	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR20	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000391403.2:c.73G>T	p.Ala25Ser	p.A25S	ENST00000391403	NM_172241.2	25	Gct/Tct	0	0	0
DOT1L	0	John_Hopkins	GRCh37	19	2222505	2222505	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000398665.3:c.3337G>A	p.Val1113Ile	p.V1113I	ENST00000398665	NM_032482.2	1113	Gtc/Atc	0	0	0
JAKMIP1	0	John_Hopkins	GRCh37	4	6114508	6114508	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR20	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000282924.5:c.70G>A	p.Glu24Lys	p.E24K	ENST00000282924	NM_144720.3	24	Gag/Aag	0	0	0
hsa-mir-6080	0	John_Hopkins	GRCh37	17	62782754	62782754	+	upstream_gene_variant	5'Flank	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.				ENST00000400873				0	0	0
PLXNA4	0	John_Hopkins	GRCh37	7	132192357	132192357	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000321063.4:c.1096C>T	p.Arg366Cys	p.R366C	ENST00000321063	NM_020911.1	366	Cgc/Tgc	0	0	0
COPS3	0	John_Hopkins	GRCh37	17	17165350	17165350	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000268717.5:c.692C>T	p.Ser231Phe	p.S231F	ENST00000268717	NM_003653.3	231	tCt/tTt	0	0	0
ZFPM2	0	John_Hopkins	GRCh37	8	106573666	106573666	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000407775.2:c.377G>A	p.Trp126Ter	p.W126*	ENST00000407775	NM_012082.3	126	tGg/tAg	0	0	0
ITIH1	0	John_Hopkins	GRCh37	3	52821992	52821993	+	intron_variant	Intron	DEL	CT	CT	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000273283.2:c.1925-9_1925-8del		*642*	ENST00000273283	NM_002215.3			0	0	0
ARHGEF10	0	John_Hopkins	GRCh37	8	1871745	1871745	+	missense_variant	Missense_Mutation	SNP	C	C	G	NA	NA	ACINAR19	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000398564.1:c.2446C>G	p.Pro816Ala	p.P816A	ENST00000398564		816	Ccc/Gcc	0	0	0
ZNF423	0	John_Hopkins	GRCh37	16	49670404	49670404	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR19	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000262383.2:c.2659G>A	p.Gly887Ser	p.G887S	ENST00000262383		887	Ggc/Agc	0	0	0
ATP2A1	0	John_Hopkins	GRCh37	16	28913640	28913640	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000357084.3:c.2464del	p.Arg822GlyfsTer49	p.R822Gfs*49	ENST00000357084	NM_173201.3	819	cgC/cg	0	0	0
DPYS	0	John_Hopkins	GRCh37	8	105405203	105405203	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000351513.2:c.1252del	p.Thr418LeufsTer22	p.T418Lfs*22	ENST00000351513	NM_001385.2	418	Act/ct	0	0	0
C10orf131	0	John_Hopkins	GRCh37	10	97698408	97698408	+	3_prime_UTR_variant	3'UTR	SNP	A	A	T	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000423344.2:c.*442A>T		*148*	ENST00000423344	NM_001130446.2			0	0	0
LRRC17	0	John_Hopkins	GRCh37	7	102574416	102574416	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000339431.4:c.56G>A	p.Arg19His	p.R19H	ENST00000339431	NM_001031692.2	19	cGc/cAc	0	0	0
ADAMTSL1	0	John_Hopkins	GRCh37	9	18680458	18680458	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000380548.4:c.1285G>A	p.Ala429Thr	p.A429T	ENST00000380548	NM_001040272.5	429	Gcg/Acg	0	0	0
LIG4	0	John_Hopkins	GRCh37	13	108863515	108863515	+	missense_variant	Missense_Mutation	SNP	T	T	A	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000356922.4:c.102A>T	p.Glu34Asp	p.E34D	ENST00000356922	NM_002312.3	34	gaA/gaT	0	0	0
NOL8	0	John_Hopkins	GRCh37	9	95078288	95078288	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000442668.2:c.619C>T	p.Arg207Ter	p.R207*	ENST00000442668	NM_017948.5	207	Cga/Tga	0	0	0
ZIC4	0	John_Hopkins	GRCh37	3	147108850	147108850	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000383075.3:c.872C>A	p.Ser291Ter	p.S291*	ENST00000383075	NM_032153.5	291	tCg/tAg	0	0	0
DNM1L	0	John_Hopkins	GRCh37	12	32858770	32858770	+	intron_variant	Intron	SNP	T	T	C	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000549701.1:c.251-1531T>C		*84*	ENST00000549701				0	0	0
CCDC175	0	John_Hopkins	GRCh37	14	59992100	59992101	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000537690.2:c.1895dup	p.Asn632LysfsTer6	p.N632Kfs*6	ENST00000537690	NM_001164399.1	632	aac/aAac	0	0	0
CHRFAM7A	0	John_Hopkins	GRCh37	15	30665259	30665259	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000299847.2:c.250G>A	p.Gly84Arg	p.G84R	ENST00000299847	NM_139320.1	84	Gga/Aga	0	0	0
SCAF1	0	John_Hopkins	GRCh37	19	50154498	50154498	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000360565.3:c.852G>C	p.Glu284Asp	p.E284D	ENST00000360565	NM_021228.2	284	gaG/gaC	0	0	0
OR10G3	0	John_Hopkins	GRCh37	14	22038002	22038002	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000303532.1:c.874C>T	p.Arg292Trp	p.R292W	ENST00000303532	NM_001005465.1	292	Cgg/Tgg	0	0	0
NPY2R	0	John_Hopkins	GRCh37	4	156135812	156135812	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR15	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000329476.3:c.721C>T	p.Arg241Cys	p.R241C	ENST00000329476	NM_000910.2	241	Cgc/Tgc	0	0	0
ZNF831	0	John_Hopkins	GRCh37	20	57771061	57771061	+	splice_donor_variant	Splice_Site	SNP	G	G	T	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000371030.2:c.3875+1G>T		p.X1292_splice	ENST00000371030	NM_178457.2			0	0	0
EPHB6	0	John_Hopkins	GRCh37	7	142562309	142562309	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000392957.2:c.757delG	p.Ala253ProfsTer21	p.A253Pfs*21	ENST00000392957	NM_004445.4	251	Ggg/gg	0	0	0
RASSF6	0	John_Hopkins	GRCh37	4	74447930	74447930	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000342081.3:c.741A>G	p.Ile247Met	p.I247M	ENST00000342081	NM_201431.2	247	atA/atG	0	0	0
PAX1	0	John_Hopkins	GRCh37	20	21687123	21687123	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000398485.2:c.334G>A	p.Gly112Ser	p.G112S	ENST00000398485	NM_006192.4	112	Ggc/Agc	0	0	0
SCN10A	0	John_Hopkins	GRCh37	3	38739457	38739457	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000449082.2:c.5254G>T	p.Asp1752Tyr	p.D1752Y	ENST00000449082	NM_006514.2	1752	Gac/Tac	0	0	0
SASH1	0	John_Hopkins	GRCh37	6	148840990	148840991	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000367467.3:c.1174dup	p.Glu392GlyfsTer21	p.E392Gfs*21	ENST00000367467	NM_015278.3	390	-/G	0	0	0
HUWE1	0	John_Hopkins	GRCh37	X	53616543	53616543	+	missense_variant	Missense_Mutation	SNP	A	A	T	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000262854.6:c.4425T>A	p.Asp1475Glu	p.D1475E	ENST00000262854	NM_031407.5	1475	gaT/gaA	0	0	0
OR5M11	0	John_Hopkins	GRCh37	11	56310057	56310057	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR04	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000528616.2:c.677G>A	p.Arg226Gln	p.R226Q	ENST00000528616	NM_001005245.1	226	cGg/cAg	0	0	0
PLCB4	0	John_Hopkins	GRCh37	20	9353043	9353043	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000278655.4:c.685del	p.Ile229SerfsTer9	p.I229Sfs*9	ENST00000278655	NM_182797.2	227	Aaa/aa	0	0	0
OR4D8P	0	John_Hopkins	GRCh37	11	59259281	59259281	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000431137.1:n.157T>C		*53*	ENST00000431137				0	0	0
RAPGEF5	0	John_Hopkins	GRCh37	7	22330863	22330863	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	A	-	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000344041.6:c.222-3del		p.X74_splice	ENST00000344041	NM_012294.3			0	0	0
RAB40C	0	John_Hopkins	GRCh37	16	675483	675483	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000248139.3:c.316G>A	p.Asp106Asn	p.D106N	ENST00000248139	NM_021168.4	106	Gac/Aac	0	0	0
ERCC2	0	John_Hopkins	GRCh37	19	45856030	45856030	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000391945.4:c.1876G>A	p.Val626Ile	p.V626I	ENST00000391945	NM_000400.3	626	Gtc/Atc	0	0	0
KIAA0513	0	John_Hopkins	GRCh37	16	85105466	85105466	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000258180.3:c.407T>C	p.Phe136Ser	p.F136S	ENST00000258180	NM_014732.2	136	tTt/tCt	0	0	0
GRM5	0	John_Hopkins	GRCh37	11	88583258	88583258	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000305447.4:c.727G>A	p.Ala243Thr	p.A243T	ENST00000305447	NM_001143831.2	243	Gcc/Acc	0	0	0
PPP2CA	0	John_Hopkins	GRCh37	5	133533479	133533479	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000481195.1:c.914del	p.Pro305GlnfsTer22	p.P305Qfs*22	ENST00000481195	NM_002715.2	305	cCa/ca	0	0	0
GRIP2	0	John_Hopkins	GRCh37	3	14545090	14545090	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000273083.3:n.2728T>A		*910*	ENST00000273083				0	0	0
KCTD3	0	John_Hopkins	GRCh37	1	215793922	215793922	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000259154.4:c.2416delA	p.Ser806ValfsTer16	p.S806Vfs*16	ENST00000259154	NM_016121.3	804	Aaa/aa	0	0	0
CASP8AP2	0	John_Hopkins	GRCh37	6	90575992	90575994	+	non_coding_transcript_exon_variant	RNA	DEL	AAC	AAC	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000551025.1:n.4422_4424del		*1474*	ENST00000551025				0	0	0
KCNH4	0	John_Hopkins	GRCh37	17	40330403	40330403	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000264661.3:c.403C>T	p.Gln135Ter	p.Q135*	ENST00000264661	NM_012285.2	135	Cag/Tag	0	0	0
HNRNPCP5	0	John_Hopkins	GRCh37	1	13183393	13183393	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	NA	NA	ACINAR18	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000323770.6:n.480C>A		*160*	ENST00000323770				0	0	0
ACVR2A	0	John_Hopkins	GRCh37	2	148683686	148683686	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000241416.7:c.1310delA	p.Lys437ArgfsTer5	p.K437Rfs*5	ENST00000241416	NM_001616.4	435	Aaa/aa	0	0	0
C6orf58	0	John_Hopkins	GRCh37	6	127901499	127901499	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000329722.7:c.478C>A	p.Pro160Thr	p.P160T	ENST00000329722	NM_001010905.2	160	Ccc/Acc	0	0	0
SLC22A24	0	John_Hopkins	GRCh37	11	62910984	62910984	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000326192.5:c.268C>T	p.Arg90Cys	p.R90C	ENST00000326192		90	Cgc/Tgc	0	0	0
KIF26B	0	John_Hopkins	GRCh37	1	245847548	245847548	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000407071.2:c.2272G>A	p.Ala758Thr	p.A758T	ENST00000407071	NM_018012.3	758	Gcc/Acc	0	0	0
CD276	0	John_Hopkins	GRCh37	15	73992036	73992036	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000318443.5:c.56G>A	p.Gly19Glu	p.G19E	ENST00000318443	NM_001024736.1	19	gGa/gAa	0	0	0
GPR35	0	John_Hopkins	GRCh37	2	241570207	241570207	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000319838.5:c.838G>A	p.Ala280Thr	p.A280T	ENST00000319838	NM_001195381.1	280	Gcc/Acc	0	0	0
KCNG1	0	John_Hopkins	GRCh37	20	49626763	49626763	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000371571.4:c.113C>T	p.Ala38Val	p.A38V	ENST00000371571	NM_002237.3	38	gCg/gTg	0	0	0
INO80E	0	John_Hopkins	GRCh37	16	30007665	30007665	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000563197.1:c.42delA	p.Lys14AsnfsTer5	p.K14Nfs*5	ENST00000563197	NM_173618.1	12	Aaa/aa	0	0	0
ACTRT2	0	John_Hopkins	GRCh37	1	2938917	2938917	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000378404.2:c.667G>A	p.Val223Met	p.V223M	ENST00000378404	NM_080431.4	223	Gtg/Atg	0	0	0
HYDIN	0	John_Hopkins	GRCh37	16	70993561	70993561	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000393567.2:c.6131C>T	p.Thr2044Ile	p.T2044I	ENST00000393567	NM_001270974.1	2044	aCa/aTa	0	0	0
STAT4	0	John_Hopkins	GRCh37	2	192011486	192011486	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	A	-	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000358470.4:c.129-3del		p.X43_splice	ENST00000358470	NM_001243835.1			0	0	0
CLEC4M	0	John_Hopkins	GRCh37	19	7830857	7830857	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000327325.5:c.548A>G	p.Gln183Arg	p.Q183R	ENST00000327325	NM_001144909.1	183	cAg/cGg	0	0	0
SLC6A13	0	John_Hopkins	GRCh37	12	330128	330128	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000343164.4:c.1795G>A	p.Glu599Lys	p.E599K	ENST00000343164	NM_016615.4	599	Gag/Aag	0	0	0
UBE3B	0	John_Hopkins	GRCh37	12	109945540	109945540	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000342494.3:c.1622C>T	p.Thr541Ile	p.T541I	ENST00000342494	NM_130466.3	541	aCa/aTa	0	0	0
IGSF5	0	John_Hopkins	GRCh37	21	41143007	41143007	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000380588.4:c.583G>A	p.Asp195Asn	p.D195N	ENST00000380588	NM_001080444.1	195	Gac/Aac	0	0	0
LZTR1	0	John_Hopkins	GRCh37	22	21351081	21351081	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR25	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000215739.8:c.2316C>A	p.Asn772Lys	p.N772K	ENST00000215739	NM_006767.3	772	aaC/aaA	0	0	0
HMCN1	0	John_Hopkins	GRCh37	1	185976267	185976268	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	NA	NA	ACINAR14	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000271588.4:c.4487dup	p.Leu1496PhefsTer5	p.L1496Ffs*5	ENST00000271588	NM_031935.2	1495	ttt/tTtt	0	0	0
ARNT	0	John_Hopkins	GRCh37	1	150788841	150788841	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000358595.5:c.1844C>G	p.Ser615Ter	p.S615*	ENST00000358595	NM_178427.2	615	tCa/tGa	0	0	0
ARL14	0	John_Hopkins	GRCh37	3	160395689	160395690	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000320767.2:c.556_557del	p.Leu186GlyfsTer25	p.L186Gfs*25	ENST00000320767	NM_025047.2	185	acTTtg/actg	0	0	0
FAM47A	0	John_Hopkins	GRCh37	X	34150305	34150305	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000346193.3:c.91G>A	p.Ala31Thr	p.A31T	ENST00000346193	NM_203408.3	31	Gcg/Acg	0	0	0
CTNND1	0	John_Hopkins	GRCh37	11	57559116	57559116	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000399050.4:c.166G>T	p.Ala56Ser	p.A56S	ENST00000399050	NM_001085458.1	56	Gcc/Tcc	0	0	0
SLC39A4	0	John_Hopkins	GRCh37	8	145638148	145638148	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000301305.3:c.1810G>A	p.Asp604Asn	p.D604N	ENST00000301305	NM_130849.3	604	Gac/Aac	0	0	0
EML3	0	John_Hopkins	GRCh37	11	62373122	62373122	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000394773.2:c.1906G>A	p.Asp636Asn	p.D636N	ENST00000394773	NM_153265.2	636	Gac/Aac	0	0	0
PPAT	0	John_Hopkins	GRCh37	4	57269275	57269275	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000264220.2:c.592C>T	p.Arg198Ter	p.R198*	ENST00000264220	NM_002703.4	198	Cga/Tga	0	0	0
LARGE	0	John_Hopkins	GRCh37	22	33712101	33712101	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000354992.2:c.1421T>C	p.Val474Ala	p.V474A	ENST00000354992	NM_004737.4	474	gTc/gCc	0	0	0
SUMF1	0	John_Hopkins	GRCh37	3	4110420	4110420	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000448413.1:c.1024T>C	p.Tyr342His	p.Y342H	ENST00000448413		342	Tac/Cac	0	0	0
CACNA2D2	0	John_Hopkins	GRCh37	3	50404297	50404297	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR18	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000479441.1:c.2575G>A	p.Ala859Thr	p.A859T	ENST00000479441		859	Gcc/Acc	0	0	0
ZFR	0	John_Hopkins	GRCh37	5	32404161	32404161	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000265069.8:c.1074delA	p.Glu359LysfsTer4	p.E359Kfs*4	ENST00000265069	NM_016107.3	358	aaA/aa	0	0	0
MROH2A	0	John_Hopkins	GRCh37	2	234707445	234707445	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000389758.3:c.1278del	p.Tyr427ThrfsTer6	p.Y427Tfs*6	ENST00000389758		426	atC/at	0	0	0
NCL	0	John_Hopkins	GRCh37	2	232324868	232324868	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR02	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000322723.4:c.1035G>T	p.Met345Ile	p.M345I	ENST00000322723	NM_005381.2	345	atG/atT	0	0	0
PDLIM5	0	John_Hopkins	GRCh37	4	95583630	95583630	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR21	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000317968.4:c.1643G>C	p.Gly548Ala	p.G548A	ENST00000317968	NM_001256428.1	548	gGt/gCt	0	0	0
THBS1	0	John_Hopkins	GRCh37	15	39874929	39874930	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000260356.5:c.608dup	p.Val204ArgfsTer3	p.V204Rfs*3	ENST00000260356	NM_003246.2	201	-/G	0	0	0
ASAP2	0	John_Hopkins	GRCh37	2	9543428	9543428	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000281419.3:c.2993T>C	p.Val998Ala	p.V998A	ENST00000281419	NM_003887.2	998	gTg/gCg	0	0	0
FAM111B	0	John_Hopkins	GRCh37	11	58892090	58892090	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000343597.3:c.520C>T	p.Arg174Cys	p.R174C	ENST00000343597	NM_198947.3	174	Cgc/Tgc	0	0	0
OR2T6	0	John_Hopkins	GRCh37	1	248551195	248551195	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000355728.2:c.286G>A	p.Ala96Thr	p.A96T	ENST00000355728	NM_001005471.1	96	Gcc/Acc	0	0	0
SPEG	0	John_Hopkins	GRCh37	2	220353814	220353814	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000312358.7:c.8188G>A	p.Asp2730Asn	p.D2730N	ENST00000312358	NM_005876.4	2730	Gac/Aac	0	0	0
PCGF3	0	John_Hopkins	GRCh37	4	727888	727888	+	intron_variant	Intron	SNP	A	A	C	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000362003.5:c.109+310A>C		*37*	ENST00000362003	NM_006315.4			0	0	0
ZNF224	0	John_Hopkins	GRCh37	19	44612081	44612081	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000336976.6:c.1768C>T	p.His590Tyr	p.H590Y	ENST00000336976	NM_013398.2	590	Cac/Tac	0	0	0
CSMD2	0	John_Hopkins	GRCh37	1	34254215	34254215	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000241312.4:c.1529A>G	p.Lys510Arg	p.K510R	ENST00000241312		510	aAg/aGg	0	0	0
GMPR2	0	John_Hopkins	GRCh37	14	24706339	24706339	+	missense_variant	Missense_Mutation	SNP	C	C	G	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000355299.4:c.528C>G	p.Ile176Met	p.I176M	ENST00000355299	NM_001002000.1	176	atC/atG	0	0	0
GNA14	0	John_Hopkins	GRCh37	9	80039082	80039082	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000341700.6:c.881C>T	p.Pro294Leu	p.P294L	ENST00000341700	NM_004297.3	294	cCg/cTg	0	0	0
TRIM8	0	John_Hopkins	GRCh37	10	104404802	104404802	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000302424.7:c.428G>C	p.Trp143Ser	p.W143S	ENST00000302424	NM_030912.2	143	tGg/tCg	0	0	0
SUCO	0	John_Hopkins	GRCh37	1	172539250	172539250	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000263688.3:c.920G>T	p.Arg307Leu	p.R307L	ENST00000263688	NM_014283.3	307	cGa/cTa	0	0	0
DMBT1	0	John_Hopkins	GRCh37	10	124345797	124345797	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000338354.3:c.1681G>A	p.Val561Met	p.V561M	ENST00000338354		561	Gtg/Atg	0	0	0
WDFY4	0	John_Hopkins	GRCh37	10	50040723	50040723	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR20	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000325239.5:c.6632G>A	p.Arg2211Gln	p.R2211Q	ENST00000325239	NM_020945.1	2211	cGg/cAg	0	0	0
FSIP2	0	John_Hopkins	GRCh37	2	186659894	186659894	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000424728.1:c.8038delA	p.Thr2680HisfsTer3	p.T2680Hfs*3	ENST00000424728		2677	acA/ac	0	0	0
A2ML1	0	John_Hopkins	GRCh37	12	9021217	9021217	+	missense_variant	Missense_Mutation	SNP	T	T	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000299698.7:c.4146T>A	p.Asn1382Lys	p.N1382K	ENST00000299698	NM_144670.4	1382	aaT/aaA	0	0	0
KMT2C	0	John_Hopkins	GRCh37	7	151860155	151860155	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000262189.6:c.10507C>G	p.Gln3503Glu	p.Q3503E	ENST00000262189	NM_170606.2	3503	Cag/Gag	0	0	0
BSND	0	John_Hopkins	GRCh37	1	55474039	55474039	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000371265.4:c.701C>T	p.Pro234Leu	p.P234L	ENST00000371265	NM_057176.2	234	cCg/cTg	0	0	0
FADS6	0	John_Hopkins	GRCh37	17	72888700	72888700	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000310226.6:c.307C>A	p.Leu103Ile	p.L103I	ENST00000310226	NM_178128.3	103	Ctc/Atc	0	0	0
ZNF784	0	John_Hopkins	GRCh37	19	56133313	56133313	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR25	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000325351.4:c.776G>A	p.Arg259His	p.R259H	ENST00000325351	NM_203374.1	259	cGc/cAc	0	0	0
EPB41L3	0	John_Hopkins	GRCh37	18	5395630	5395630	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000341928.2:c.3050C>T	p.Thr1017Ile	p.T1017I	ENST00000341928	NM_012307.3	1017	aCc/aTc	0	0	0
FXYD1	0	John_Hopkins	GRCh37	19	35631522	35631522	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000351325.4:c.83C>T	p.Pro28Leu	p.P28L	ENST00000351325	NM_021902.3	28	cCg/cTg	0	0	0
OR4S1	0	John_Hopkins	GRCh37	11	48328396	48328396	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000319988.1:c.622T>C	p.Ser208Pro	p.S208P	ENST00000319988	NM_001004725.1	208	Tcc/Ccc	0	0	0
NDUFB6	0	John_Hopkins	GRCh37	9	32553885	32553885	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000379847.3:c.376C>A	p.Gln126Lys	p.Q126K	ENST00000379847	NM_002493.4	126	Caa/Aaa	0	0	0
BPTF	0	John_Hopkins	GRCh37	17	65899951	65899952	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000321892.4:c.2976dup	p.Glu993ArgfsTer23	p.E993Rfs*23	ENST00000321892		990	aaa/aAaa	0	0	0
PRDM9	0	John_Hopkins	GRCh37	5	23522872	23522872	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000296682.3:c.760C>A	p.Pro254Thr	p.P254T	ENST00000296682	NM_020227.2	254	Cct/Act	0	0	0
FHOD3	0	John_Hopkins	GRCh37	18	34340722	34340722	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000359247.4:c.4001G>A	p.Arg1334His	p.R1334H	ENST00000359247	NM_001281739.1	1334	cGc/cAc	0	0	0
LTBP2	0	John_Hopkins	GRCh37	14	74970011	74970011	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000261978.4:c.4799G>A	p.Arg1600His	p.R1600H	ENST00000261978	NM_000428.2	1600	cGt/cAt	0	0	0
CAND1	0	John_Hopkins	GRCh37	12	67699717	67699717	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000545606.1:c.2269G>C	p.Asp757His	p.D757H	ENST00000545606	NM_018448.3	757	Gac/Cac	0	0	0
PCDHGB6	0	John_Hopkins	GRCh37	5	140789294	140789294	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000520790.1:c.1525G>A	p.Ala509Thr	p.A509T	ENST00000520790	NM_018926.2	509	Gcg/Acg	0	0	0
LRRC10	0	John_Hopkins	GRCh37	12	70004141	70004141	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000361484.3:c.478C>A	p.Pro160Thr	p.P160T	ENST00000361484	NM_201550.2	160	Cca/Aca	0	0	0
LRIF1	0	John_Hopkins	GRCh37	1	111494590	111494590	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000369763.4:c.916C>A	p.Pro306Thr	p.P306T	ENST00000369763	NM_018372.3	306	Cct/Act	0	0	0
TBX20	0	John_Hopkins	GRCh37	7	35289575	35289575	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000408931.3:c.368C>A	p.Thr123Asn	p.T123N	ENST00000408931	NM_001077653.2	123	aCc/aAc	0	0	0
ST18	0	John_Hopkins	GRCh37	8	53025778	53025778	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR02	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000276480.7:c.3124G>A	p.Val1042Met	p.V1042M	ENST00000276480	NM_014682.2	1042	Gtg/Atg	0	0	0
PRSS1	0	John_Hopkins	GRCh37	7	142458429	142458431	+	inframe_deletion	In_Frame_Del	DEL	GAC	GAC	-	NA	NA	ACINAR05	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000311737.7:c.64_66del	p.Asp22del	p.D22del	ENST00000311737	NM_002769.4	22	GAC/-	0	0	0
CEP120	0	John_Hopkins	GRCh37	5	122725975	122725975	+	intron_variant	Intron	SNP	C	C	T	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000306467.5:c.1039-141G>A		*347*	ENST00000306467				0	0	0
ADAM10	0	John_Hopkins	GRCh37	15	59009931	59009931	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	A	-	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000260408.3:c.56-5del		p.X19_splice	ENST00000260408	NM_001110.2			0	0	0
RP11-1055B8.7	0	John_Hopkins	GRCh37	17	79427958	79427958	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000307745.7:c.6269G>A	p.Arg2090His	p.R2090H	ENST00000307745		2090	cGc/cAc	0	0	0
WDR26	0	John_Hopkins	GRCh37	1	224605983	224605983	+	missense_variant	Missense_Mutation	SNP	A	A	T	NA	NA	ACINAR15	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000414423.2:c.998T>A	p.Leu333His	p.L333H	ENST00000414423	NM_001115113.2	333	cTt/cAt	0	0	0
KCNH4	0	John_Hopkins	GRCh37	17	40330200	40330200	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000264661.3:c.503C>A	p.Ala168Asp	p.A168D	ENST00000264661	NM_012285.2	168	gCc/gAc	0	0	0
IFIT3	0	John_Hopkins	GRCh37	10	91099565	91099565	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000371811.4:c.1153G>A	p.Gly385Ser	p.G385S	ENST00000371811	NM_001031683.2	385	Ggt/Agt	0	0	0
LPCAT4	0	John_Hopkins	GRCh37	15	34657242	34657242	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000314891.6:c.445C>T	p.Arg149Ter	p.R149*	ENST00000314891	NM_153613.2	149	Cga/Tga	0	0	0
C2orf61	0	John_Hopkins	GRCh37	2	47378556	47378556	+	missense_variant	Missense_Mutation	SNP	C	C	G	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000445927.2:c.240G>C	p.Arg80Ser	p.R80S	ENST00000445927	NM_001163561.1	80	agG/agC	0	0	0
DCAF6	0	John_Hopkins	GRCh37	1	168013852	168013852	+	missense_variant	Missense_Mutation	SNP	A	A	C	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000312263.6:c.1642A>C	p.Thr548Pro	p.T548P	ENST00000312263	NM_001017977.2	548	Aca/Cca	0	0	0
NAA25	0	John_Hopkins	GRCh37	12	112480957	112480957	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000261745.4:c.2309C>G	p.Ser770Cys	p.S770C	ENST00000261745	NM_024953.3	770	tCt/tGt	0	0	0
PLEKHJ1	0	John_Hopkins	GRCh37	19	2234004	2234004	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000326631.2:c.377C>T	p.Thr126Met	p.T126M	ENST00000326631	NM_018049.1	126	aCg/aTg	0	0	0
NBEA	0	John_Hopkins	GRCh37	13	35733663	35733663	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000400445.3:c.3362delA	p.Asn1121MetfsTer9	p.N1121Mfs*9	ENST00000400445	NM_015678.4	1119	Aaa/aa	0	0	0
OR4F14P	0	John_Hopkins	GRCh37	15	102369009	102369009	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000355745.3:n.66G>T		*22*	ENST00000355745				0	0	0
IFNA6	0	John_Hopkins	GRCh37	9	21350553	21350553	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	NA	NA	ACINAR05	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000380210.1:c.334del	p.Leu112PhefsTer5	p.L112Ffs*5	ENST00000380210	NM_021002.2	112	Ctt/tt	0	0	0
STARD8	0	John_Hopkins	GRCh37	X	67937546	67937546	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000252336.6:c.550G>A	p.Ala184Thr	p.A184T	ENST00000252336	NM_014725.4	184	Gcc/Acc	0	0	0
APLP2	0	John_Hopkins	GRCh37	11	129992273	129992273	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000263574.5:c.787G>A	p.Glu263Lys	p.E263K	ENST00000263574	NM_001642.2	263	Gaa/Aaa	0	0	0
BSN	0	John_Hopkins	GRCh37	3	49694496	49694496	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000296452.4:c.7513delC	p.Thr2506HisfsTer63	p.T2506Hfs*63	ENST00000296452	NM_003458.3	2503	Ccc/cc	0	0	0
CADM1	0	John_Hopkins	GRCh37	11	115080338	115080338	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000452722.3:c.1034C>A	p.Thr345Asn	p.T345N	ENST00000452722	NM_014333.3	345	aCc/aAc	0	0	0
PPIG	0	John_Hopkins	GRCh37	2	170492936	170492936	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000260970.3:c.1168G>A	p.Glu390Lys	p.E390K	ENST00000260970	NM_004792.2	390	Gaa/Aaa	0	0	0
AC079210.1	0	John_Hopkins	GRCh37	17	66539825	66539827	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000592554.1:c.755_757delTCT	p.Phe252del	p.F252del	ENST00000592554	NM_001243746.1	252	tTCTac/tac	0	0	0
KIFC2	0	John_Hopkins	GRCh37	8	145695016	145695016	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000301332.2:c.1366G>A	p.Ala456Thr	p.A456T	ENST00000301332	NM_145754.2	456	Gcc/Acc	0	0	0
SMC2	0	John_Hopkins	GRCh37	9	106900426	106900426	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000286398.7:c.3397A>G	p.Thr1133Ala	p.T1133A	ENST00000286398	NM_006444.2	1133	Act/Gct	0	0	0
ALKBH2	0	John_Hopkins	GRCh37	12	109526205	109526205	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000343075.3:c.592C>T	p.Arg198Trp	p.R198W	ENST00000343075	NM_001001655.2	198	Cgg/Tgg	0	0	0
ZNF681	0	John_Hopkins	GRCh37	19	23926619	23926619	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000395385.3:c.1526C>G	p.Thr509Ser	p.T509S	ENST00000395385		509	aCt/aGt	0	0	0
DPPA3	0	John_Hopkins	GRCh37	12	7867931	7867931	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR04	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000345088.2:c.235C>T	p.Leu79Phe	p.L79F	ENST00000345088	NM_199286.2	79	Ctt/Ttt	0	0	0
ZC3H12D	0	John_Hopkins	GRCh37	6	149777899	149777899	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000409806.3:c.583G>A	p.Val195Ile	p.V195I	ENST00000409806		195	Gtc/Atc	0	0	0
GABRR3	0	John_Hopkins	GRCh37	3	97731222	97731222	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000472788.1:c.496G>A	p.Val166Ile	p.V166I	ENST00000472788	NM_001105580.2	166	Gta/Ata	0	0	0
GSC	0	John_Hopkins	GRCh37	14	95235327	95235327	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000238558.3:c.583C>T	p.Arg195Trp	p.R195W	ENST00000238558	NM_173849.2	195	Cgg/Tgg	0	0	0
GPR158	0	John_Hopkins	GRCh37	10	25888009	25888009	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000376351.3:c.3454C>T	p.Arg1152Cys	p.R1152C	ENST00000376351	NM_020752.2	1152	Cgt/Tgt	0	0	0
EXOSC10	0	John_Hopkins	GRCh37	1	11147558	11147558	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000376936.4:c.1036C>T	p.Arg346Ter	p.R346*	ENST00000376936	NM_001001998.1	346	Cga/Tga	0	0	0
HDAC7	0	John_Hopkins	GRCh37	12	48191904	48191904	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000427332.2:c.331G>A	p.Gly111Ser	p.G111S	ENST00000427332		111	Ggc/Agc	0	0	0
CSMD2	0	John_Hopkins	GRCh37	1	34034982	34034982	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR25	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000241312.4:c.8129G>A	p.Arg2710His	p.R2710H	ENST00000241312		2710	cGc/cAc	0	0	0
SEMA3C	0	John_Hopkins	GRCh37	7	80387705	80387705	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000265361.3:c.1585G>A	p.Asp529Asn	p.D529N	ENST00000265361	NM_006379.3	529	Gac/Aac	0	0	0
CAPN11	0	John_Hopkins	GRCh37	6	44143886	44143886	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000398776.1:c.913G>T	p.Asp305Tyr	p.D305Y	ENST00000398776	NM_007058.3	305	Gat/Tat	0	0	0
TOPAZ1	0	John_Hopkins	GRCh37	3	44328998	44328998	+	missense_variant	Missense_Mutation	SNP	A	A	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000309765.4:c.3554A>T	p.Gln1185Leu	p.Q1185L	ENST00000309765	NM_001145030.1	1185	cAg/cTg	0	0	0
ZNF114	0	John_Hopkins	GRCh37	19	48789404	48789404	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000315849.1:c.523G>T	p.Glu175Ter	p.E175*	ENST00000315849	NM_153608.1	175	Gaa/Taa	0	0	0
CINP	0	John_Hopkins	GRCh37	14	102815072	102815072	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000216756.6:c.461A>G	p.Glu154Gly	p.E154G	ENST00000216756	NM_032630.2	154	gAg/gGg	0	0	0
CDH7	0	John_Hopkins	GRCh37	18	63476947	63476947	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR25	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000323011.3:c.218C>A	p.Ser73Tyr	p.S73Y	ENST00000323011	NM_033646.1	73	tCt/tAt	0	0	0
ECE1	0	John_Hopkins	GRCh37	1	21551772	21551772	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000374893.6:c.2011G>A	p.Asp671Asn	p.D671N	ENST00000374893	NM_001397.2	671	Gac/Aac	0	0	0
BOD1L1	0	John_Hopkins	GRCh37	4	13604701	13604701	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000040738.5:c.3823T>C	p.Ser1275Pro	p.S1275P	ENST00000040738	NM_148894.2	1275	Tcc/Ccc	0	0	0
SPON1	0	John_Hopkins	GRCh37	11	14279385	14279385	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000310358.7:n.1968T>C		*656*	ENST00000310358				0	0	0
REXO1	0	John_Hopkins	GRCh37	19	1821532	1821532	+	missense_variant	Missense_Mutation	SNP	T	T	G	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000170168.4:c.2380A>C	p.Ser794Arg	p.S794R	ENST00000170168	NM_020695.3	794	Agt/Cgt	0	0	0
ZNF492	0	John_Hopkins	GRCh37	19	22836202	22836202	+	start_lost	Translation_Start_Site	SNP	A	A	G	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000456783.2:c.1A>G	p.Met1?	p.M1?	ENST00000456783	NM_020855.2	1	Atg/Gtg	0	0	0
KCNH3	0	John_Hopkins	GRCh37	12	49951242	49951242	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000257981.6:c.2758C>T	p.Arg920Trp	p.R920W	ENST00000257981	NM_012284.1	920	Cgg/Tgg	0	0	0
ANAPC7	0	John_Hopkins	GRCh37	12	110812086	110812086	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000455511.3:c.1663G>T	p.Glu555Ter	p.E555*	ENST00000455511	NM_016238.2	555	Gag/Tag	0	0	0
SCAPER	0	John_Hopkins	GRCh37	15	76958026	76958026	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000324767.7:c.2613delA	p.Ala872ProfsTer4	p.A872Pfs*4	ENST00000324767	NM_020843.2	871	aaA/aa	0	0	0
FGFR2	0	John_Hopkins	GRCh37	10	123276961	123276961	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000358487.5:c.956C>A	p.Thr319Asn	p.T319N	ENST00000358487	NM_000141.4	319	aCc/aAc	0	0	0
RNF19B	0	John_Hopkins	GRCh37	1	33402733	33402735	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000373456.7:c.1871_1873del	p.Glu624del	p.E624del	ENST00000373456	NM_153341.2	624	gAAGgt/ggt	0	0	0
MYF6	0	John_Hopkins	GRCh37	12	81101781	81101781	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000228641.3:c.283C>T	p.Arg95Ter	p.R95*	ENST00000228641	NM_002469.2	95	Cga/Tga	0	0	0
ZNF578	0	John_Hopkins	GRCh37	19	53014470	53014470	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR14	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000421239.2:c.836G>T	p.Arg279Ile	p.R279I	ENST00000421239	NM_001099694.1	279	aGa/aTa	0	0	0
C2CD2L	0	John_Hopkins	GRCh37	11	118980821	118980821	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000336702.3:c.362T>C	p.Ile121Thr	p.I121T	ENST00000336702	NM_014807.3	121	aTc/aCc	0	0	0
BCAT1	0	John_Hopkins	GRCh37	12	25047292	25047292	+	missense_variant	Missense_Mutation	SNP	A	A	C	NA	NA	ACINAR18	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000261192.7:c.196T>G	p.Phe66Val	p.F66V	ENST00000261192	NM_005504.6	66	Ttt/Gtt	0	0	0
DLL4	0	John_Hopkins	GRCh37	15	41224625	41224625	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000249749.5:c.830G>A	p.Gly277Glu	p.G277E	ENST00000249749	NM_019074.3	277	gGa/gAa	0	0	0
MUC17	0	John_Hopkins	GRCh37	7	100684333	100684333	+	missense_variant	Missense_Mutation	SNP	T	T	G	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000306151.4:c.9636T>G	p.Ile3212Met	p.I3212M	ENST00000306151	NM_001040105.1	3212	atT/atG	0	0	0
TEP1	0	John_Hopkins	GRCh37	14	20872001	20872001	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000262715.5:c.1075G>A	p.Ala359Thr	p.A359T	ENST00000262715	NM_007110.4	359	Gcc/Acc	0	0	0
XRN1	0	John_Hopkins	GRCh37	3	142094776	142094776	+	missense_variant	Missense_Mutation	SNP	C	C	G	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000264951.4:c.2842G>C	p.Asp948His	p.D948H	ENST00000264951	NM_019001.3	948	Gac/Cac	0	0	0
DOCK10	0	John_Hopkins	GRCh37	2	225750479	225750479	+	missense_variant	Missense_Mutation	SNP	T	T	G	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000258390.7:c.656A>C	p.Asn219Thr	p.N219T	ENST00000258390	NM_014689.2	219	aAc/aCc	0	0	0
PLXND1	0	John_Hopkins	GRCh37	3	129304893	129304893	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000324093.4:c.1753A>G	p.Ser585Gly	p.S585G	ENST00000324093	NM_015103.2	585	Agc/Ggc	0	0	0
SMAD4	0	John_Hopkins	GRCh37	18	48584510	48584511	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	NA	NA	ACINAR19	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000342988.3:c.683dup	p.Leu229ThrfsTer6	p.L229Tfs*6	ENST00000342988	NM_005359.5	228	ata/atTa	0	0	0
CRYAA	0	John_Hopkins	GRCh37	21	44589921	44589921	+	intron_variant	Intron	DEL	C	C	-	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000291554.2:c.189+533delC		*63*	ENST00000291554	NM_000394.2			0	0	0
MYH11	0	John_Hopkins	GRCh37	16	15814135	15814135	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000300036.5:c.4826G>A	p.Arg1609Gln	p.R1609Q	ENST00000300036	NM_002474.2	1609	cGa/cAa	0	0	0
PCF11	0	John_Hopkins	GRCh37	11	82868335	82868335	+	5_prime_UTR_variant	5'UTR	SNP	T	T	G	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000298281.4:c.-147T>G		*49*	ENST00000298281	NM_015885.3			0	0	0
HIST3H3	0	John_Hopkins	GRCh37	1	228612740	228612740	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000366696.1:c.287C>T	p.Ala96Val	p.A96V	ENST00000366696	NM_003493.2	96	gCg/gTg	0	0	0
PTPRG	0	John_Hopkins	GRCh37	3	62118319	62118319	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000474889.1:c.659G>T	p.Gly220Val	p.G220V	ENST00000474889	NM_002841.3	220	gGg/gTg	0	0	0
ATG2A	0	John_Hopkins	GRCh37	11	64677270	64677270	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR25	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000377264.3:c.1990G>A	p.Val664Met	p.V664M	ENST00000377264	NM_015104.2	664	Gtg/Atg	0	0	0
CORIN	0	John_Hopkins	GRCh37	4	47695103	47695103	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	A	-	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000273857.4:c.800-3delT		p.X267_splice	ENST00000273857	NM_006587.3			0	0	0
NT5E	0	John_Hopkins	GRCh37	6	86194997	86194998	+	frameshift_variant	Frame_Shift_Del	DEL	AT	AT	-	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000257770.3:c.797_798del	p.Ile266SerfsTer4	p.I266Sfs*4	ENST00000257770	NM_002526.3	266	ATa/a	0	0	0
MYBL1	0	John_Hopkins	GRCh37	8	67514697	67514697	+	missense_variant	Missense_Mutation	SNP	C	C	G	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000522677.3:c.82G>C	p.Gly28Arg	p.G28R	ENST00000522677	NM_001080416.2	28	Gga/Cga	0	0	0
TTC30A	0	John_Hopkins	GRCh37	2	178481760	178481760	+	missense_variant	Missense_Mutation	SNP	T	T	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000355689.5:c.1670A>T	p.Lys557Ile	p.K557I	ENST00000355689	NM_152275.3	557	aAa/aTa	0	0	0
YBX2	0	John_Hopkins	GRCh37	17	7193626	7193628	+	inframe_deletion	In_Frame_Del	DEL	AGA	AGA	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000007699.5:c.686_688del	p.Phe229del	p.F229del	ENST00000007699	NM_015982.3	229	tTCTac/tac	0	0	0
DLL3	0	John_Hopkins	GRCh37	19	39996086	39996086	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000205143.4:c.1088G>A	p.Arg363His	p.R363H	ENST00000205143	NM_016941.3	363	cGc/cAc	0	0	0
OR52R1	0	John_Hopkins	GRCh37	11	4825434	4825434	+	missense_variant	Missense_Mutation	SNP	A	A	C	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000356069.2:c.177T>G	p.His59Gln	p.H59Q	ENST00000356069	NM_001005177.3	59	caT/caG	0	0	0
FBXL13	0	John_Hopkins	GRCh37	7	102518845	102518845	+	missense_variant	Missense_Mutation	SNP	T	T	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000313221.4:c.1441A>T	p.Ile481Leu	p.I481L	ENST00000313221	NM_145032.3	481	Ata/Tta	0	0	0
PA2G4	0	John_Hopkins	GRCh37	12	56505302	56505302	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000303305.6:c.1115delA	p.Lys372ArgfsTer16	p.K372Rfs*16	ENST00000303305	NM_006191.2	370	Aaa/aa	0	0	0
WDR4	0	John_Hopkins	GRCh37	21	44275866	44275866	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000330317.2:c.652T>C	p.Tyr218His	p.Y218H	ENST00000330317	NM_033661.4	218	Tac/Cac	0	0	0
RGMA	0	John_Hopkins	GRCh37	15	93595384	93595384	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000329082.7:c.484del	p.His162ThrfsTer34	p.H162Tfs*34	ENST00000329082	NM_020211.2	162	Cac/ac	0	0	0
HPR	0	John_Hopkins	GRCh37	16	72110570	72110570	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000540303.2:c.637A>G	p.Asn213Asp	p.N213D	ENST00000540303	NM_020995.3	213	Aat/Gat	0	0	0
NUP188	0	John_Hopkins	GRCh37	9	131747271	131747271	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000372577.2:c.2054G>A	p.Arg685His	p.R685H	ENST00000372577	NM_015354.2	685	cGc/cAc	0	0	0
RGS12	0	John_Hopkins	GRCh37	4	3432431	3432431	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000336727.3:c.3870delC	p.Gln1292ArgfsTer49	p.Q1292Rfs*49	ENST00000336727	NM_002926.3	1288	aCc/ac	0	0	0
LANCL2	0	John_Hopkins	GRCh37	7	55498970	55498970	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000254770.2:c.1310C>T	p.Ser437Leu	p.S437L	ENST00000254770	NM_018697.3	437	tCa/tTa	0	0	0
UBE3C	0	John_Hopkins	GRCh37	7	157013446	157013446	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000348165.5:c.1978G>T	p.Gly660Cys	p.G660C	ENST00000348165	NM_014671.2	660	Ggc/Tgc	0	0	0
FAM90A28P	0	John_Hopkins	GRCh37	19	53804770	53804770	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000597191.1:n.164A>G		*55*	ENST00000597191				0	0	0
NPHS1	0	John_Hopkins	GRCh37	19	36342397	36342397	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000378910.5:c.236G>T	p.Gly79Val	p.G79V	ENST00000378910	NM_004646.3	79	gGc/gTc	0	0	0
SERPINA13P	0	John_Hopkins	GRCh37	14	95111301	95111301	+	non_coding_transcript_exon_variant,non_coding_transcript_variant	RNA	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000469935.1:n.1121G>A		*374*	ENST00000469935				0	0	0
SERPINE3	0	John_Hopkins	GRCh37	13	51936041	51936041	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000521255.1:c.1188delT	p.Phe396LeufsTer6	p.F396Lfs*6	ENST00000521255	NM_001101320.1	395	Ttt/tt	0	0	0
RAB18	0	John_Hopkins	GRCh37	10	27822909	27822909	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000356940.6:c.431C>T	p.Ser144Phe	p.S144F	ENST00000356940	NM_001256410.1	144	tCc/tTc	0	0	0
LINC00982	0	John_Hopkins	GRCh37	1	2979410	2979410	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000321399.3:n.941C>T		*314*	ENST00000321399				0	0	0
GRK5	0	John_Hopkins	GRCh37	10	121156222	121156222	+	missense_variant	Missense_Mutation	SNP	A	A	T	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000392870.2:c.277A>T	p.Thr93Ser	p.T93S	ENST00000392870	NM_005308.2	93	Act/Tct	0	0	0
HCK	0	John_Hopkins	GRCh37	20	30689155	30689155	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000534862.1:c.1354C>T	p.Arg452Cys	p.R452C	ENST00000534862	NM_001172132.1	452	Cgt/Tgt	0	0	0
TBCK	0	John_Hopkins	GRCh37	4	107229926	107229926	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	NA	NA	ACINAR25	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000273980.5:c.192T>A	p.His64Gln	p.H64Q	ENST00000273980		64	caT/caA	0	0	0
BIRC6	0	John_Hopkins	GRCh37	2	32668579	32668579	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR25	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000421745.2:c.4259G>A	p.Cys1420Tyr	p.C1420Y	ENST00000421745	NM_016252.3	1420	tGt/tAt	0	0	0
TTLL6	0	John_Hopkins	GRCh37	17	46847126	46847126	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000393382.3:c.2374C>T	p.His792Tyr	p.H792Y	ENST00000393382	NM_001130918.1	792	Cac/Tac	0	0	0
NCOA5	0	John_Hopkins	GRCh37	20	44691320	44691320	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000290231.6:c.1359delC	p.Ser454ArgfsTer69	p.S454Rfs*69	ENST00000290231	NM_020967.2	453	ccC/cc	0	0	0
VWF	0	John_Hopkins	GRCh37	12	6181540	6181540	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000261405.5:c.1066C>T	p.Arg356Cys	p.R356C	ENST00000261405	NM_000552.3	356	Cgc/Tgc	0	0	0
UNC13A	0	John_Hopkins	GRCh37	19	17785548	17785548	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000519716.2:c.70G>A	p.Val24Met	p.V24M	ENST00000519716	NM_001080421.2	24	Gtg/Atg	0	0	0
CENPF	0	John_Hopkins	GRCh37	1	214814808	214814808	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000366955.3:c.3127T>C	p.Tyr1043His	p.Y1043H	ENST00000366955	NM_016343.3	1043	Tac/Cac	0	0	0
SLC38A3	0	John_Hopkins	GRCh37	3	50256097	50256097	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000420502.1:n.1262G>A		*421*	ENST00000420502				0	0	0
CADM3	0	John_Hopkins	GRCh37	1	159159564	159159564	+	intron_variant	Intron	SNP	A	A	G	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000368125.4:c.89-2162A>G		*30*	ENST00000368125	NM_001127173.1			0	0	0
ZFP64	0	John_Hopkins	GRCh37	20	50705008	50705008	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000361387.2:c.1151G>A	p.Arg384Gln	p.R384Q	ENST00000361387	NM_199427.2	384	cGg/cAg	0	0	0
AP2A1	0	John_Hopkins	GRCh37	19	50304703	50304703	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000359032.5:c.1610C>T	p.Thr537Met	p.T537M	ENST00000359032	NM_014203.2	537	aCg/aTg	0	0	0
BNIP1	0	John_Hopkins	GRCh37	5	172590743	172590743	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000351486.5:c.506C>T	p.Thr169Met	p.T169M	ENST00000351486	NM_001205.2	169	aCg/aTg	0	0	0
TMEM132A	0	John_Hopkins	GRCh37	11	60702097	60702097	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000453848.2:c.1697C>T	p.Thr566Met	p.T566M	ENST00000453848		566	aCg/aTg	0	0	0
SEC14L1	0	John_Hopkins	GRCh37	17	75212636	75212636	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	NA	NA	ACINAR18	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000430767.4:c.*2531G>A		*844*	ENST00000430767	NM_001204410.1			0	0	0
RBBP4	0	John_Hopkins	GRCh37	1	33123095	33123097	+	inframe_deletion	In_Frame_Del	DEL	CAT	CAT	-	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000373493.5:c.233_235del	p.His78del	p.H78del	ENST00000373493	NM_005610.2	78	CAT/-	0	0	0
MANSC1	0	John_Hopkins	GRCh37	12	12491365	12491365	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000535902.1:c.353G>T	p.Arg118Met	p.R118M	ENST00000535902		118	aGg/aTg	0	0	0
TFAM	0	John_Hopkins	GRCh37	10	60160135	60160136	+	downstream_gene_variant	3'Flank	DEL	AA	AA	-	NA	NA	ACINAR15	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.				ENST00000487519	NM_003201.2			0	0	0
PTP4A3	0	John_Hopkins	GRCh37	8	142445758	142445758	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	NA	NA	ACINAR10	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000606664.1:n.1114C>T		*372*	ENST00000606664				0	0	0
C19orf69	0	John_Hopkins	GRCh37	19	41949132	41949132	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000378187.2:c.64delC	p.Gln22ArgfsTer3	p.Q22Rfs*3	ENST00000378187	NM_001130514.1	20	Ccc/cc	0	0	0
CNTN2	0	John_Hopkins	GRCh37	1	205027719	205027719	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000331830.4:c.415G>A	p.Glu139Lys	p.E139K	ENST00000331830	NM_005076.3	139	Gag/Aag	0	0	0
SLFNL1	0	John_Hopkins	GRCh37	1	41486173	41486173	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000302946.8:c.160C>G	p.Leu54Val	p.L54V	ENST00000302946		54	Ctg/Gtg	0	0	0
TRANK1	0	John_Hopkins	GRCh37	3	36893734	36893734	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000429976.2:c.4520A>G	p.Lys1507Arg	p.K1507R	ENST00000429976		1507	aAg/aGg	0	0	0
FGD6	0	John_Hopkins	GRCh37	12	95502126	95502126	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR04	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000343958.4:c.3262C>T	p.Arg1088Trp	p.R1088W	ENST00000343958	NM_018351.3	1088	Cgg/Tgg	0	0	0
IGFN1	0	John_Hopkins	GRCh37	1	201185653	201185653	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000295591.8:c.847C>T	p.Arg283Trp	p.R283W	ENST00000295591		283	Cgg/Tgg	0	0	0
KCNG1	0	John_Hopkins	GRCh37	20	49626254	49626254	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000371571.4:c.622C>T	p.Arg208Cys	p.R208C	ENST00000371571	NM_002237.3	208	Cgc/Tgc	0	0	0
PID1	0	John_Hopkins	GRCh37	2	229890709	229890709	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000354069.6:c.392C>T	p.Pro131Leu	p.P131L	ENST00000354069		131	cCg/cTg	0	0	0
TRIP12	0	John_Hopkins	GRCh37	2	230660022	230660022	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000283943.5:c.3616A>G	p.Arg1206Gly	p.R1206G	ENST00000283943	NM_004238.1	1206	Aga/Gga	0	0	0
PALD1	0	John_Hopkins	GRCh37	10	72291124	72291124	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000263563.6:c.547C>T	p.Arg183Ter	p.R183*	ENST00000263563	NM_014431.2	183	Cga/Tga	0	0	0
GLT6D1	0	John_Hopkins	GRCh37	9	138516337	138516337	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000371763.1:c.437G>A	p.Gly146Asp	p.G146D	ENST00000371763	NM_182974.2	146	gGc/gAc	0	0	0
ANKRD13B	0	John_Hopkins	GRCh37	17	27940807	27940807	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000394859.3:c.*207G>A		*69*	ENST00000394859	NM_152345.4			0	0	0
HEATR1	0	John_Hopkins	GRCh37	1	236760164	236760164	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000366582.3:c.716T>C	p.Ile239Thr	p.I239T	ENST00000366582	NM_018072.5	239	aTc/aCc	0	0	0
PLCD3	0	John_Hopkins	GRCh37	17	43190531	43190531	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000322765.5:c.2087C>T	p.Ala696Val	p.A696V	ENST00000322765	NM_133373.3	696	gCa/gTa	0	0	0
FPGS	0	John_Hopkins	GRCh37	9	130569281	130569281	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000373247.2:c.416G>A	p.Arg139Gln	p.R139Q	ENST00000373247	NM_004957.4	139	cGg/cAg	0	0	0
KCNB2	0	John_Hopkins	GRCh37	8	73480397	73480397	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000523207.1:c.435delA	p.Glu146AsnfsTer3	p.E146Nfs*3	ENST00000523207	NM_004770.2	143	cAa/ca	0	0	0
NUFIP2	0	John_Hopkins	GRCh37	17	27614342	27614342	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000225388.4:c.670delA	p.Arg224GlyfsTer16	p.R224Gfs*16	ENST00000225388	NM_020772.2	224	Agg/gg	0	0	0
P4HA1	0	John_Hopkins	GRCh37	10	74831885	74831885	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000307116.2:c.227G>A	p.Gly76Glu	p.G76E	ENST00000307116		76	gGa/gAa	0	0	0
C2orf61	0	John_Hopkins	GRCh37	2	47378402	47378402	+	missense_variant	Missense_Mutation	SNP	C	C	G	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000445927.2:c.394G>C	p.Asp132His	p.D132H	ENST00000445927	NM_001163561.1	132	Gat/Cat	0	0	0
ZC3H12D	0	John_Hopkins	GRCh37	6	149783011	149783011	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000409806.3:c.401C>A	p.Pro134Gln	p.P134Q	ENST00000409806		134	cCa/cAa	0	0	0
CNTNAP2	0	John_Hopkins	GRCh37	7	146741036	146741036	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000361727.3:c.440G>A	p.Arg147Gln	p.R147Q	ENST00000361727	NM_014141.5	147	cGg/cAg	0	0	0
WAC	0	John_Hopkins	GRCh37	10	28905221	28905222	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000354911.4:c.1676dup	p.Ala560SerfsTer6	p.A560Sfs*6	ENST00000354911	NM_016628.4	559	cta/ctTa	0	0	0
ARID2	0	John_Hopkins	GRCh37	12	46231419	46231419	+	missense_variant	Missense_Mutation	SNP	A	A	T	NA	NA	ACINAR17	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000334344.6:c.1259A>T	p.Glu420Val	p.E420V	ENST00000334344	NM_152641.2	420	gAg/gTg	0	0	0
GLI3	0	John_Hopkins	GRCh37	7	42018305	42018305	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000395925.3:c.1540G>A	p.Val514Met	p.V514M	ENST00000395925	NM_000168.5	514	Gtg/Atg	0	0	0
TMEM240	0	John_Hopkins	GRCh37	1	1471146	1471146	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000378733.4:c.196G>T	p.Gly66Trp	p.G66W	ENST00000378733	NM_001114748.1	66	Ggg/Tgg	0	0	0
XIRP2	0	John_Hopkins	GRCh37	2	168106471	168106471	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000409195.1:c.8569G>A	p.Val2857Ile	p.V2857I	ENST00000409195	NM_152381.5	2857	Gtt/Att	0	0	0
ACOT11	0	John_Hopkins	GRCh37	1	55096491	55096491	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000371316.3:c.1714C>T	p.Arg572Cys	p.R572C	ENST00000371316	NM_015547.3	572	Cgc/Tgc	0	0	0
CCDC17	0	John_Hopkins	GRCh37	1	46089020	46089020	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000528266.1:c.362C>T	p.Ala121Val	p.A121V	ENST00000528266		121	gCg/gTg	0	0	0
DNAH9	0	John_Hopkins	GRCh37	17	11593134	11593134	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000262442.4:c.3995T>C	p.Met1332Thr	p.M1332T	ENST00000262442	NM_001372.3	1332	aTg/aCg	0	0	0
GPR17	0	John_Hopkins	GRCh37	2	128409117	128409117	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR14	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000272644.3:c.892G>A	p.Ala298Thr	p.A298T	ENST00000272644	NM_001161417.1	298	Gcc/Acc	0	0	0
ZFHX3	0	John_Hopkins	GRCh37	16	72923654	72923654	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000268489.5:c.3424C>T	p.Arg1142Cys	p.R1142C	ENST00000268489	NM_006885.3	1142	Cgc/Tgc	0	0	0
BAP1	0	John_Hopkins	GRCh37	3	52443861	52443861	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000460680.1:c.34C>A	p.Pro12Thr	p.P12T	ENST00000460680	NM_004656.3	12	Cca/Aca	0	0	0
BMP1	0	John_Hopkins	GRCh37	8	22058663	22058663	+	intron_variant	Intron	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000306385.5:c.2108-653C>T		*703*	ENST00000306385	NM_006129.4			0	0	0
ABCA5	0	John_Hopkins	GRCh37	17	67283772	67283772	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000392676.3:c.2023G>T	p.Glu675Ter	p.E675*	ENST00000392676		675	Gaa/Taa	0	0	0
VPS13C	0	John_Hopkins	GRCh37	15	62208112	62208112	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000261517.5:c.8165del	p.Asn2722ThrfsTer27	p.N2722Tfs*27	ENST00000261517	NM_020821.2	2722	aAc/ac	0	0	0
IGLV3-21	0	John_Hopkins	GRCh37	22	23055599	23055599	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000390308.2:c.262A>G	p.Thr88Ala	p.T88A	ENST00000390308		88	Acg/Gcg	0	0	0
FBXL14	0	John_Hopkins	GRCh37	12	1675934	1675934	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000339235.3:c.1237C>T	p.Arg413Trp	p.R413W	ENST00000339235	NM_152441.2	413	Cgg/Tgg	0	0	0
KCTD3	0	John_Hopkins	GRCh37	1	215759894	215759894	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000259154.4:c.683C>A	p.Thr228Asn	p.T228N	ENST00000259154	NM_016121.3	228	aCt/aAt	0	0	0
UBTF	0	John_Hopkins	GRCh37	17	42288668	42288668	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000302904.4:c.1079G>A	p.Arg360His	p.R360H	ENST00000302904		360	cGt/cAt	0	0	0
ATP1A3	0	John_Hopkins	GRCh37	19	42474387	42474387	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000302102.5:c.2492C>T	p.Thr831Met	p.T831M	ENST00000302102	NM_152296.4	831	aCg/aTg	0	0	0
PCLO	0	John_Hopkins	GRCh37	7	82582944	82582944	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000333891.9:c.7325delA	p.Lys2442SerfsTer2	p.K2442Sfs*2	ENST00000333891	NM_033026.5	2442	aAg/ag	0	0	0
DPYS	0	John_Hopkins	GRCh37	8	105463544	105463544	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000351513.2:c.353G>A	p.Arg118Gln	p.R118Q	ENST00000351513	NM_001385.2	118	cGa/cAa	0	0	0
IGHV3-13	0	John_Hopkins	GRCh37	14	106586231	106586231	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000390602.2:c.254G>A	p.Arg85Gln	p.R85Q	ENST00000390602		85	cGa/cAa	0	0	0
DOCK2	0	John_Hopkins	GRCh37	5	169461463	169461463	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000256935.8:c.3528C>A	p.Asn1176Lys	p.N1176K	ENST00000256935	NM_004946.2	1176	aaC/aaA	0	0	0
PNPLA7	0	John_Hopkins	GRCh37	9	140358623	140358623	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000277531.4:c.3106A>G	p.Ile1036Val	p.I1036V	ENST00000277531	NM_152286.3	1036	Atc/Gtc	0	0	0
FAM177A1	0	John_Hopkins	GRCh37	14	35515697	35515697	+	intron_variant	Intron	SNP	C	C	G	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000382406.3:c.-28-14C>G		*10*	ENST00000382406				0	0	0
C17orf51	0	John_Hopkins	GRCh37	17	21454576	21454576	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000391411.5:c.110G>A	p.Arg37Gln	p.R37Q	ENST00000391411	NM_001113434.3	37	cGg/cAg	0	0	0
NIPBL	0	John_Hopkins	GRCh37	5	37063943	37063943	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000282516.8:c.7912G>T	p.Glu2638Ter	p.E2638*	ENST00000282516	NM_133433.3	2638	Gag/Tag	0	0	0
VEPH1	0	John_Hopkins	GRCh37	3	157081227	157081227	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000362010.2:c.1661delA	p.Asn554ThrfsTer5	p.N554Tfs*5	ENST00000362010	NM_001167912.1	554	aAc/ac	0	0	0
NPIPA1	0	John_Hopkins	GRCh37	16	15039519	15039519	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000328085.6:c.281G>A	p.Arg94His	p.R94H	ENST00000328085	NM_006985.2	94	cGt/cAt	0	0	0
WDR90	0	John_Hopkins	GRCh37	16	709106	709106	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000293879.4:c.3038delC	p.Pro1013GlnfsTer98	p.P1013Qfs*98	ENST00000293879		1011	gCc/gc	0	0	0
SLC12A1	0	John_Hopkins	GRCh37	15	48539146	48539146	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000380993.3:c.1493C>T	p.Ala498Val	p.A498V	ENST00000380993	NM_000338.2	498	gCg/gTg	0	0	0
TNN	0	John_Hopkins	GRCh37	1	175048540	175048540	+	missense_variant	Missense_Mutation	SNP	A	A	T	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000239462.4:c.481A>T	p.Arg161Trp	p.R161W	ENST00000239462	NM_022093.1	161	Agg/Tgg	0	0	0
NCOR2	0	John_Hopkins	GRCh37	12	124841251	124841251	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000405201.1:c.3178delC	p.Arg1060ValfsTer3	p.R1060Vfs*3	ENST00000405201		1060	Cgt/gt	0	0	0
GPR82	0	John_Hopkins	GRCh37	X	41586378	41586378	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR18	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000302548.4:c.99C>A	p.Asn33Lys	p.N33K	ENST00000302548	NM_080817.4	33	aaC/aaA	0	0	0
UBR5	0	John_Hopkins	GRCh37	8	103289349	103289350	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000520539.1:c.6360dup	p.Glu2121ArgfsTer13	p.E2121Rfs*13	ENST00000520539	NM_015902.5	2120	aaa/aaAa	0	0	0
LRRN4	0	John_Hopkins	GRCh37	20	6021805	6021805	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000378858.4:c.2086G>A	p.Ala696Thr	p.A696T	ENST00000378858	NM_152611.4	696	Gcc/Acc	0	0	0
FBXO3	0	John_Hopkins	GRCh37	11	33777466	33777466	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000265651.3:c.529G>T	p.Val177Phe	p.V177F	ENST00000265651	NM_012175.3	177	Gtc/Ttc	0	0	0
NUP160	0	John_Hopkins	GRCh37	11	47859147	47859147	+	missense_variant	Missense_Mutation	SNP	C	C	G	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000378460.2:c.777G>C	p.Gln259His	p.Q259H	ENST00000378460	NM_015231.1	259	caG/caC	0	0	0
CDCA2	0	John_Hopkins	GRCh37	8	25364996	25364996	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000330560.3:c.2814A>G	p.Ile938Met	p.I938M	ENST00000330560	NM_152562.2	938	atA/atG	0	0	0
HS3ST6	0	John_Hopkins	GRCh37	16	1961686	1961686	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000293937.3:c.934G>A	p.Val312Met	p.V312M	ENST00000293937		312	Gtg/Atg	0	0	0
MSH3	0	John_Hopkins	GRCh37	5	79970915	79970916	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000265081.6:c.1148dup	p.Asn385GlnfsTer19	p.N385Qfs*19	ENST00000265081	NM_002439.4	381	aaa/aAaa	0	0	0
DHX38	0	John_Hopkins	GRCh37	16	72130269	72130269	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000268482.3:c.213G>T	p.Lys71Asn	p.K71N	ENST00000268482	NM_014003.3	71	aaG/aaT	0	0	0
MS4A13	0	John_Hopkins	GRCh37	11	60310047	60310047	+	frameshift_variant,stop_lost	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000378186.2:c.*3del		*153fs	ENST00000378186	NM_001012417.2	153	tAa/ta	0	0	0
MYO10	0	John_Hopkins	GRCh37	5	16681451	16681451	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000513610.1:c.4351G>A	p.Val1451Ile	p.V1451I	ENST00000513610	NM_012334.2	1451	Gtc/Atc	0	0	0
PXN	0	John_Hopkins	GRCh37	12	120653855	120653855	+	intron_variant	Intron	SNP	T	T	G	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000228307.7:c.832-391A>C		*278*	ENST00000228307	NM_001080855.2			0	0	0
CEACAM8	0	John_Hopkins	GRCh37	19	43087480	43087480	+	missense_variant	Missense_Mutation	SNP	A	A	C	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000244336.5:c.968T>G	p.Val323Gly	p.V323G	ENST00000244336	NM_001816.3	323	gTa/gGa	0	0	0
FBXL19	0	John_Hopkins	GRCh37	16	30939885	30939886	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	NA	NA	ACINAR08	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000380310.2:c.787dup	p.Val263GlyfsTer60	p.V263Gfs*60	ENST00000380310	NM_001099784.2	262	agg/agGg	0	0	0
PDZD2	0	John_Hopkins	GRCh37	5	32090677	32090677	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000438447.1:c.7123G>A	p.Gly2375Ser	p.G2375S	ENST00000438447		2375	Ggc/Agc	0	0	0
HIST1H2AJ	0	John_Hopkins	GRCh37	6	27782368	27782368	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000333151.3:c.151T>C	p.Tyr51His	p.Y51H	ENST00000333151	NM_021066.2	51	Tac/Cac	0	0	0
ANKLE2	0	John_Hopkins	GRCh37	12	133306536	133306536	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000357997.5:c.2212A>G	p.Lys738Glu	p.K738E	ENST00000357997	NM_015114.1	738	Aaa/Gaa	0	0	0
snoU13	0	John_Hopkins	GRCh37	16	22493880	22493880	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000309865.7:n.2739A>G		*913*	ENST00000309865				0	0	0
IGHV3-21	0	John_Hopkins	GRCh37	14	106691704	106691704	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000390607.2:c.320C>T	p.Ala107Val	p.A107V	ENST00000390607		107	gCc/gTc	0	0	0
PTPLAD2	0	John_Hopkins	GRCh37	9	21007046	21007047	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000495827.2:c.689dup	p.Lys231GlufsTer10	p.K231Efs*10	ENST00000495827	NM_001010915.3	230	aag/aAag	0	0	0
KIAA1009	0	John_Hopkins	GRCh37	6	84865124	84865124	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	NA	NA	ACINAR15	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000403245.3:c.2887G>T	p.Glu963Ter	p.E963*	ENST00000403245	NM_014895.2	963	Gaa/Taa	0	0	0
CCDC181	0	John_Hopkins	GRCh37	1	169366557	169366558	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000367806.3:c.1287_1288del	p.Arg430ThrfsTer16	p.R430Tfs*16	ENST00000367806	NM_021179.1	429	gaAAga/gaga	0	0	0
AMOT	0	John_Hopkins	GRCh37	X	112054536	112054536	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000371959.3:c.1478T>C	p.Met493Thr	p.M493T	ENST00000371959	NM_001113490.1	493	aTg/aCg	0	0	0
ZNF837	0	John_Hopkins	GRCh37	19	58879241	58879241	+	missense_variant	Missense_Mutation	SNP	T	T	A	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000427624.2:c.1459A>T	p.Asn487Tyr	p.N487Y	ENST00000427624		487	Aac/Tac	0	0	0
TFG	0	John_Hopkins	GRCh37	3	100463696	100463696	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000240851.4:c.741C>A	p.Tyr247Ter	p.Y247*	ENST00000240851	NM_001195478.1	247	taC/taA	0	0	0
SLC24A4	0	John_Hopkins	GRCh37	14	92949083	92949083	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000532405.1:c.1315G>A	p.Val439Ile	p.V439I	ENST00000532405		439	Gtc/Atc	0	0	0
KSR2	0	John_Hopkins	GRCh37	12	118293265	118293265	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000339824.5:c.440C>G	p.Ser147Cys	p.S147C	ENST00000339824		147	tCc/tGc	0	0	0
CFH	0	John_Hopkins	GRCh37	1	196682879	196682879	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000367429.4:c.1351T>C	p.Ser451Pro	p.S451P	ENST00000367429	NM_000186.3	451	Tca/Cca	0	0	0
RBM45	0	John_Hopkins	GRCh37	2	178989001	178989001	+	missense_variant	Missense_Mutation	SNP	T	T	A	NA	NA	ACINAR04	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000286070.5:c.1216T>A	p.Leu406Ile	p.L406I	ENST00000286070	NM_152945.2	406	Tta/Ata	0	0	0
ICAM1	0	John_Hopkins	GRCh37	19	10395681	10395681	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000264832.3:c.1403G>A	p.Arg468His	p.R468H	ENST00000264832	NM_000201.2	468	cGc/cAc	0	0	0
WBSCR17	0	John_Hopkins	GRCh37	7	71177085	71177085	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000333538.5:c.1751G>A	p.Arg584His	p.R584H	ENST00000333538	NM_022479.2	584	cGc/cAc	0	0	0
CERCAM	0	John_Hopkins	GRCh37	9	131190595	131190595	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000372838.4:c.781G>A	p.Val261Met	p.V261M	ENST00000372838	NM_016174.4	261	Gtg/Atg	0	0	0
GPATCH8	0	John_Hopkins	GRCh37	17	42478624	42478624	+	missense_variant	Missense_Mutation	SNP	T	T	G	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000591680.1:c.821A>C	p.Gln274Pro	p.Q274P	ENST00000591680	NM_001002909.2	274	cAg/cCg	0	0	0
ZNF835	0	John_Hopkins	GRCh37	19	57175933	57175933	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR15	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000537055.2:c.634C>T	p.His212Tyr	p.H212Y	ENST00000537055	NM_001005850.2	212	Cac/Tac	0	0	0
NIT1	0	John_Hopkins	GRCh37	1	161089151	161089152	+	frameshift_variant	Frame_Shift_Del	DEL	TT	TT	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000368009.2:c.328_329del	p.Leu110GlyfsTer21	p.L110Gfs*21	ENST00000368009	NM_005600.2	109	cTT/c	0	0	0
INO80D	0	John_Hopkins	GRCh37	2	206882406	206882406	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	T	-	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000403263.1:c.1540delA	p.Met514TrpfsTer5	p.M514Wfs*5	ENST00000403263	NM_017759.4	514	Atg/tg	0	0	0
ARHGEF28	0	John_Hopkins	GRCh37	5	73144835	73144836	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	-	A	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000426542.2:c.1670dup	p.Tyr557Ter	p.Y557*	ENST00000426542		557	tat/taAt	0	0	0
H6PD	0	John_Hopkins	GRCh37	1	9324764	9324764	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000377403.2:c.2212C>T	p.Arg738Cys	p.R738C	ENST00000377403	NM_004285.3	738	Cgc/Tgc	0	0	0
KIAA1024	0	John_Hopkins	GRCh37	15	79750586	79750586	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000305428.3:c.2104delA	p.Ser702AlafsTer11	p.S702Afs*11	ENST00000305428	NM_015206.2	699	ttA/tt	0	0	0
GTF2IRD2B	0	John_Hopkins	GRCh37	7	74564532	74564532	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000472837.1:n.1967C>T		*656*	ENST00000472837				0	0	0
PBX3	0	John_Hopkins	GRCh37	9	128678106	128678106	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000373489.5:c.416C>T	p.Ser139Phe	p.S139F	ENST00000373489	NM_006195.5	139	tCt/tTt	0	0	0
NTN4	0	John_Hopkins	GRCh37	12	96104227	96104227	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000343702.4:c.1172C>G	p.Ala391Gly	p.A391G	ENST00000343702	NM_021229.3	391	gCt/gGt	0	0	0
TMC5	0	John_Hopkins	GRCh37	16	19468117	19468118	+	intron_variant	Intron	INS	-	-	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000396229.2:c.1049-3436dup		*350*	ENST00000396229	NM_001105248.1			0	0	0
PPFIBP1	0	John_Hopkins	GRCh37	12	27840412	27840412	+	missense_variant	Missense_Mutation	SNP	A	A	C	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000318304.8:c.2360A>C	p.Asn787Thr	p.N787T	ENST00000318304	NM_177444.2	787	aAc/aCc	0	0	0
OR12D3	0	John_Hopkins	GRCh37	6	29342766	29342766	+	missense_variant	Missense_Mutation	SNP	T	T	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000396806.3:c.299A>T	p.His100Leu	p.H100L	ENST00000396806	NM_030959.2	100	cAc/cTc	0	0	0
WASL	0	John_Hopkins	GRCh37	7	123349264	123349264	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR02	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000223023.4:c.131C>T	p.Ala44Val	p.A44V	ENST00000223023	NM_003941.3	44	gCa/gTa	0	0	0
XRCC1	0	John_Hopkins	GRCh37	19	44047648	44047648	+	missense_variant	Missense_Mutation	SNP	C	C	G	NA	NA	ACINAR21	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000262887.5:c.1798G>C	p.Asp600His	p.D600H	ENST00000262887		600	Gac/Cac	0	0	0
MYO9B	0	John_Hopkins	GRCh37	19	17298829	17298829	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000594824.1:c.2663G>T	p.Gly888Val	p.G888V	ENST00000594824		888	gGg/gTg	0	0	0
KANK1	0	John_Hopkins	GRCh37	9	744633	744633	+	intron_variant	Intron	SNP	C	C	T	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000382297.2:c.3996+44C>T		*1332*	ENST00000382297	NM_001256877.1			0	0	0
NTRK3	0	John_Hopkins	GRCh37	15	88522629	88522629	+	intron_variant	Intron	SNP	T	T	C	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000360948.2:c.1586-38645A>G		*529*	ENST00000360948	NM_001012338.2			0	0	0
ZNF256	0	John_Hopkins	GRCh37	19	58452864	58452864	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000282308.3:c.1312C>T	p.His438Tyr	p.H438Y	ENST00000282308	NM_005773.2	438	Cat/Tat	0	0	0
KSR2	0	John_Hopkins	GRCh37	12	117968797	117968797	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000339824.5:c.1751C>T	p.Thr584Met	p.T584M	ENST00000339824		584	aCg/aTg	0	0	0
SYT11	0	John_Hopkins	GRCh37	1	155838411	155838411	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	NA	NA	ACINAR20	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000368324.4:c.690T>A	p.Tyr230Ter	p.Y230*	ENST00000368324	NM_152280.4	230	taT/taA	0	0	0
FIZ1	0	John_Hopkins	GRCh37	19	56104343	56104343	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000221665.3:c.964G>T	p.Ala322Ser	p.A322S	ENST00000221665	NM_032836.2	322	Gcc/Tcc	0	0	0
ARFGEF2	0	John_Hopkins	GRCh37	20	47649632	47649632	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000371917.4:c.5254C>T	p.Arg1752Ter	p.R1752*	ENST00000371917	NM_006420.2	1752	Cga/Tga	0	0	0
PKD1L2	0	John_Hopkins	GRCh37	16	81236233	81236233	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000337114.4:c.1015G>A	p.Val339Met	p.V339M	ENST00000337114	NM_001076780.1	339	Gtg/Atg	0	0	0
KIF4B	0	John_Hopkins	GRCh37	5	154396544	154396544	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR20	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000435029.4:c.3125A>G	p.Glu1042Gly	p.E1042G	ENST00000435029	NM_001099293.1	1042	gAg/gGg	0	0	0
ATP13A2	0	John_Hopkins	GRCh37	1	17326956	17326956	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000326735.8:c.779C>T	p.Ala260Val	p.A260V	ENST00000326735		260	gCc/gTc	0	0	0
ADNP	0	John_Hopkins	GRCh37	20	49508204	49508204	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000349014.3:c.3047delA	p.Lys1016ArgfsTer11	p.K1016Rfs*11	ENST00000349014	NM_001282532.1	1016	aAg/ag	0	0	0
PSTPIP2	0	John_Hopkins	GRCh37	18	43577750	43577750	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000409746.5:c.607G>A	p.Glu203Lys	p.E203K	ENST00000409746	NM_024430.3	203	Gaa/Aaa	0	0	0
IFNA14	0	John_Hopkins	GRCh37	9	21239538	21239538	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000380222.2:c.397C>A	p.Pro133Thr	p.P133T	ENST00000380222	NM_002172.2	133	Ccc/Acc	0	0	0
NT5C3B	0	John_Hopkins	GRCh37	17	39988680	39988680	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000435506.2:c.278G>A	p.Arg93Gln	p.R93Q	ENST00000435506		93	cGg/cAg	0	0	0
SPTBN5	0	John_Hopkins	GRCh37	15	42149487	42149488	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	C	NA	NA	ACINAR08	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000320955.6:c.8570dup	p.His2858ProfsTer84	p.H2858Pfs*84	ENST00000320955	NM_016642.3	2857	ggc/gGgc	0	0	0
LMTK2	0	John_Hopkins	GRCh37	7	97823468	97823468	+	missense_variant	Missense_Mutation	SNP	A	A	T	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000297293.5:c.3691A>T	p.Asn1231Tyr	p.N1231Y	ENST00000297293	NM_014916.3	1231	Aac/Tac	0	0	0
SYBU	0	John_Hopkins	GRCh37	8	110592030	110592030	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000276646.9:c.732G>A	p.Met244Ile	p.M244I	ENST00000276646	NM_001099754.1	244	atG/atA	0	0	0
PSMB5	0	John_Hopkins	GRCh37	14	23495386	23495387	+	protein_altering_variant	In_Frame_Ins	INS	-	-	ACT	NA	NA	ACINAR15	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000361611.6:c.703_704insAGT	p.Leu235delinsGlnPhe	p.L235delinsQF	ENST00000361611	NM_002797.3	235	ctc/cAGTtc	0	0	0
CDHR3	0	John_Hopkins	GRCh37	7	105668106	105668106	+	intron_variant	Intron	DEL	A	A	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000317716.9:c.2273-879del		*758*	ENST00000317716	NM_152750.4			0	0	0
ZNF345	0	John_Hopkins	GRCh37	19	37369062	37369062	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR10	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000420450.1:c.1330C>T	p.His444Tyr	p.H444Y	ENST00000420450	NM_001242472.1	444	Cat/Tat	0	0	0
HMCN1	0	John_Hopkins	GRCh37	1	186024749	186024749	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000271588.4:c.7087T>C	p.Cys2363Arg	p.C2363R	ENST00000271588	NM_031935.2	2363	Tgt/Cgt	0	0	0
BANP	0	John_Hopkins	GRCh37	16	88105395	88105396	+	intron_variant	Intron	DEL	TT	TT	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000286122.7:c.1345-270_1345-269del		*449*	ENST00000286122	NM_001173539.1			0	0	0
MAP1S	0	John_Hopkins	GRCh37	19	17837196	17837196	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000324096.4:c.1003G>A	p.Gly335Arg	p.G335R	ENST00000324096	NM_018174.4	335	Ggg/Agg	0	0	0
TMEM132B	0	John_Hopkins	GRCh37	12	126138212	126138212	+	missense_variant	Missense_Mutation	SNP	T	T	G	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000299308.3:c.2193T>G	p.Asp731Glu	p.D731E	ENST00000299308	NM_052907.2	731	gaT/gaG	0	0	0
LETMD1	0	John_Hopkins	GRCh37	12	51453156	51453156	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000262055.4:c.1025C>T	p.Ser342Phe	p.S342F	ENST00000262055	NM_015416.4	342	tCt/tTt	0	0	0
GPR158	0	John_Hopkins	GRCh37	10	25887509	25887509	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR02	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000376351.3:c.2954C>A	p.Thr985Asn	p.T985N	ENST00000376351	NM_020752.2	985	aCt/aAt	0	0	0
MTSS1	0	John_Hopkins	GRCh37	8	125565703	125565703	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000518547.1:c.1798C>T	p.Arg600Cys	p.R600C	ENST00000518547	NM_014751.4	600	Cgc/Tgc	0	0	0
KIF21A	0	John_Hopkins	GRCh37	12	39763634	39763634	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000361418.5:c.347G>A	p.Arg116Gln	p.R116Q	ENST00000361418		116	cGa/cAa	0	0	0
CNGB1	0	John_Hopkins	GRCh37	16	58001073	58001073	+	missense_variant	Missense_Mutation	SNP	C	C	G	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000251102.8:c.118G>C	p.Glu40Gln	p.E40Q	ENST00000251102	NM_001297.4	40	Gaa/Caa	0	0	0
CDH19	0	John_Hopkins	GRCh37	18	64211219	64211219	+	missense_variant	Missense_Mutation	SNP	T	T	A	NA	NA	ACINAR05	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000262150.2:c.1203A>T	p.Lys401Asn	p.K401N	ENST00000262150	NM_021153.3	401	aaA/aaT	0	0	0
ZNF559-ZNF177	0	John_Hopkins	GRCh37	19	9491959	9491959	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000589262.1:c.952G>A	p.Gly318Arg	p.G318R	ENST00000589262	NM_001172651.1	318	Gga/Aga	0	0	0
ZNF700	0	John_Hopkins	GRCh37	19	12059171	12059171	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000254321.5:c.332G>T	p.Arg111Ile	p.R111I	ENST00000254321	NM_144566.2	111	aGa/aTa	0	0	0
GOLGB1	0	John_Hopkins	GRCh37	3	121409749	121409749	+	missense_variant	Missense_Mutation	SNP	T	T	A	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000340645.5:c.8447A>T	p.Gln2816Leu	p.Q2816L	ENST00000340645	NM_001256487.1	2816	cAa/cTa	0	0	0
EHD1	0	John_Hopkins	GRCh37	11	64645731	64645731	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000320631.3:c.206C>T	p.Thr69Met	p.T69M	ENST00000320631	NM_006795.2	69	aCg/aTg	0	0	0
PRRG1	0	John_Hopkins	GRCh37	X	37312759	37312759	+	missense_variant	Missense_Mutation	SNP	T	T	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000378628.4:c.542T>A	p.Leu181Gln	p.L181Q	ENST00000378628	NM_001142395.1	181	cTg/cAg	0	0	0
SUGP1	0	John_Hopkins	GRCh37	19	19414790	19414790	+	intron_variant	Intron	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000247001.5:c.539-134G>A		*180*	ENST00000247001	NM_172231.3			0	0	0
ZNF574	0	John_Hopkins	GRCh37	19	42584404	42584404	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000359044.4:c.1646G>A	p.Arg549Gln	p.R549Q	ENST00000359044	NM_022752.5	549	cGg/cAg	0	0	0
EEF2	0	John_Hopkins	GRCh37	19	3977298	3977298	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR25	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000309311.6:c.2298G>T	p.Lys766Asn	p.K766N	ENST00000309311	NM_001961.3	766	aaG/aaT	0	0	0
RHOBTB1	0	John_Hopkins	GRCh37	10	62634789	62634789	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000337910.5:c.1738G>A	p.Val580Ile	p.V580I	ENST00000337910	NM_001242359.1	580	Gtt/Att	0	0	0
ABCC1	0	John_Hopkins	GRCh37	16	16228333	16228333	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000399410.3:c.4093G>A	p.Asp1365Asn	p.D1365N	ENST00000399410	NM_004996.3	1365	Gac/Aac	0	0	0
SRSF9	0	John_Hopkins	GRCh37	12	120903593	120903593	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	A	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000229390.3:c.189-3delT		p.X63_splice	ENST00000229390	NM_003769.2			0	0	0
ZNF696	0	John_Hopkins	GRCh37	8	144378599	144378599	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000330143.3:c.754G>A	p.Val252Met	p.V252M	ENST00000330143	NM_030895.2	252	Gtg/Atg	0	0	0
HERC2P9	0	John_Hopkins	GRCh37	15	28899542	28899542	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000529624.1:n.3072C>A		*1024*	ENST00000529624				0	0	0
CELA2A	0	John_Hopkins	GRCh37	1	15788650	15788652	+	intron_variant	Intron	DEL	TCT	TCT	-	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000359621.4:c.227+501_227+503del		*76*	ENST00000359621	NM_033440.2			0	0	0
UMODL1	0	John_Hopkins	GRCh37	21	43505422	43505422	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000408910.2:c.503G>T	p.Gly168Val	p.G168V	ENST00000408910	NM_001004416.2	168	gGc/gTc	0	0	0
STIM2	0	John_Hopkins	GRCh37	4	26921170	26921170	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	NA	NA	ACINAR14	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000467087.1:c.196A>T	p.Arg66Ter	p.R66*	ENST00000467087	NM_020860.3	66	Aga/Tga	0	0	0
TNR	0	John_Hopkins	GRCh37	1	175372332	175372332	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000263525.2:c.920G>A	p.Cys307Tyr	p.C307Y	ENST00000263525	NM_003285.2	307	tGt/tAt	0	0	0
SOX9	0	John_Hopkins	GRCh37	17	70119763	70119764	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	NA	NA	ACINAR10	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000245479.2:c.768dup	p.Arg257AlafsTer39	p.R257Afs*39	ENST00000245479	NM_000346.3	255	-/G	0	0	0
SPEF2	0	John_Hopkins	GRCh37	5	35790294	35790294	+	intron_variant	Intron	SNP	C	C	A	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000356031.3:c.4448-2148C>A		*1483*	ENST00000356031	NM_024867.3			0	0	0
TAPT1	0	John_Hopkins	GRCh37	4	16189981	16189981	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	A	-	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000405303.2:c.613-3del		p.X205_splice	ENST00000405303	NM_153365.2			0	0	0
GOLGA6L10	0	John_Hopkins	GRCh37	15	82637293	82637293	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR10	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000439287.4:c.793T>C	p.Cys265Arg	p.C265R	ENST00000439287	NM_001164465.2	265	Tgt/Cgt	0	0	0
TRAV30	0	John_Hopkins	GRCh37	14	22636807	22636807	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000557168.1:c.266del	p.Lys89SerfsTer?	p.K89Sfs*?	ENST00000557168		87	gAa/ga	0	0	0
DCHS2	0	John_Hopkins	GRCh37	4	155158081	155158081	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR02	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000357232.4:c.6358G>A	p.Asp2120Asn	p.D2120N	ENST00000357232	NM_017639.3	2120	Gac/Aac	0	0	0
BPHL	0	John_Hopkins	GRCh37	6	3127500	3127500	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000380379.5:c.236C>A	p.Pro79His	p.P79H	ENST00000380379	NM_004332.2	79	cCt/cAt	0	0	0
C6orf203	0	John_Hopkins	GRCh37	6	107361143	107361145	+	inframe_deletion	In_Frame_Del	DEL	ATA	ATA	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000311381.5:c.182_184del	p.Asn61del	p.N61del	ENST00000311381	NM_016487.3	60	tATAat/tat	0	0	0
EMR4P	0	John_Hopkins	GRCh37	19	6972348	6972348	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	NA	NA	ACINAR02	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000600751.1:n.949C>T		*317*	ENST00000600751				0	0	0
RGS3	0	John_Hopkins	GRCh37	9	116356435	116356435	+	intron_variant	Intron	SNP	C	C	T	NA	NA	ACINAR10	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000350696.5:c.3081-275C>T		*1027*	ENST00000350696				0	0	0
IRX4	0	John_Hopkins	GRCh37	5	1878682	1878682	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000231357.2:c.961G>T	p.Glu321Ter	p.E321*	ENST00000231357	NM_016358.2	321	Gag/Tag	0	0	0
AREG	0	John_Hopkins	GRCh37	4	75311106	75311106	+	missense_variant	Missense_Mutation	SNP	T	T	G	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000395748.3:c.44T>G	p.Leu15Arg	p.L15R	ENST00000395748	NM_001657.2	15	cTc/cGc	0	0	0
LONRF2	0	John_Hopkins	GRCh37	2	100925654	100925654	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000393437.3:c.713C>T	p.Ala238Val	p.A238V	ENST00000393437	NM_198461.3	238	gCg/gTg	0	0	0
ALAS1	0	John_Hopkins	GRCh37	3	52245361	52245361	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000310271.2:c.1393C>T	p.Arg465Trp	p.R465W	ENST00000310271	NM_199166.2	465	Cgg/Tgg	0	0	0
CXorf57	0	John_Hopkins	GRCh37	X	105855896	105855896	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000372548.4:c.586G>A	p.Asp196Asn	p.D196N	ENST00000372548	NM_018015.5	196	Gat/Aat	0	0	0
DYNC1H1	0	John_Hopkins	GRCh37	14	102477285	102477285	+	missense_variant	Missense_Mutation	SNP	A	A	T	NA	NA	ACINAR10	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000360184.4:c.6614A>T	p.Glu2205Val	p.E2205V	ENST00000360184	NM_001376.4	2205	gAa/gTa	0	0	0
ABCA10	0	John_Hopkins	GRCh37	17	67150058	67150058	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR10	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000269081.4:c.3879G>T	p.Trp1293Cys	p.W1293C	ENST00000269081	NM_080282.3	1293	tgG/tgT	0	0	0
KAL1	0	John_Hopkins	GRCh37	X	8502491	8502491	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000262648.3:c.1853T>C	p.Val618Ala	p.V618A	ENST00000262648	NM_000216.2	618	gTc/gCc	0	0	0
ADA	0	John_Hopkins	GRCh37	20	43254267	43254267	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000372874.4:c.421del	p.Glu141SerfsTer38	p.E141Sfs*38	ENST00000372874	NM_000022.2	141	Gag/ag	0	0	0
snoU13	0	John_Hopkins	GRCh37	16	22493818	22493818	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	NA	NA	ACINAR19	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000309865.7:n.2677G>A		*893*	ENST00000309865				0	0	0
KCNJ16	0	John_Hopkins	GRCh37	17	68128667	68128667	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000283936.1:c.439G>A	p.Val147Met	p.V147M	ENST00000283936	NM_018658.2	147	Gtg/Atg	0	0	0
TP63	0	John_Hopkins	GRCh37	3	189612157	189612157	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000264731.3:c.1909C>T	p.Arg637Cys	p.R637C	ENST00000264731	NM_003722.4	637	Cgt/Tgt	0	0	0
VPS26A	0	John_Hopkins	GRCh37	10	70930979	70930979	+	missense_variant	Missense_Mutation	SNP	T	T	G	NA	NA	ACINAR25	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000263559.6:c.938T>G	p.Phe313Cys	p.F313C	ENST00000263559	NM_004896.3	313	tTt/tGt	0	0	0
GPATCH3	0	John_Hopkins	GRCh37	1	27219005	27219005	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000361720.5:c.1258C>T	p.Arg420Trp	p.R420W	ENST00000361720	NM_022078.2	420	Cgg/Tgg	0	0	0
DYSF	0	John_Hopkins	GRCh37	2	71755484	71755484	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR02	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000258104.3:c.1237A>G	p.Lys413Glu	p.K413E	ENST00000258104	NM_003494.3	413	Aag/Gag	0	0	0
CDHR2	0	John_Hopkins	GRCh37	5	176011640	176011640	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000261944.5:c.2363delG	p.Gly788ValfsTer4	p.G788Vfs*4	ENST00000261944	NM_017675.4	786	caG/ca	0	0	0
SRRT	0	John_Hopkins	GRCh37	7	100479786	100479786	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000347433.4:c.511C>T	p.Arg171Cys	p.R171C	ENST00000347433		171	Cgc/Tgc	0	0	0
PLCL1	0	John_Hopkins	GRCh37	2	198949611	198949611	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000428675.1:c.1370G>C	p.Cys457Ser	p.C457S	ENST00000428675	NM_006226.3	457	tGt/tCt	0	0	0
TNN	0	John_Hopkins	GRCh37	1	175113579	175113579	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000239462.4:c.3652G>A	p.Asp1218Asn	p.D1218N	ENST00000239462	NM_022093.1	1218	Gat/Aat	0	0	0
IQCE	0	John_Hopkins	GRCh37	7	2611882	2611882	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000402050.2:c.316G>A	p.Val106Ile	p.V106I	ENST00000402050	NM_152558.3	106	Gtc/Atc	0	0	0
TDRD5	0	John_Hopkins	GRCh37	1	179604985	179604985	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000294848.8:c.1483T>C	p.Ser495Pro	p.S495P	ENST00000294848	NM_173533.3	495	Tcg/Ccg	0	0	0
ASCC3	0	John_Hopkins	GRCh37	6	101054639	101054639	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000369162.2:c.5021G>A	p.Arg1674His	p.R1674H	ENST00000369162	NM_006828.2	1674	cGt/cAt	0	0	0
GAK	0	John_Hopkins	GRCh37	4	845629	845629	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000314167.4:c.3417del	p.Ala1141ProfsTer15	p.A1141Pfs*15	ENST00000314167	NM_005255.2	1139	ccC/cc	0	0	0
LRRK1	0	John_Hopkins	GRCh37	15	101605746	101605746	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000388948.3:c.5104G>A	p.Gly1702Ser	p.G1702S	ENST00000388948	NM_024652.3	1702	Ggc/Agc	0	0	0
HYDIN	0	John_Hopkins	GRCh37	16	70925548	70925548	+	splice_donor_variant	Splice_Site	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000393567.2:c.9656+1G>A		p.X3219_splice	ENST00000393567	NM_001270974.1			0	0	0
REV3L	0	John_Hopkins	GRCh37	6	111654566	111654566	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000358835.3:c.7685G>A	p.Arg2562His	p.R2562H	ENST00000358835		2562	cGt/cAt	0	0	0
ZNF99	0	John_Hopkins	GRCh37	19	22940973	22940973	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR05	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000596209.1:c.1738C>A	p.Leu580Ile	p.L580I	ENST00000596209	NM_001080409.2	580	Ctt/Att	0	0	0
DIDO1	0	John_Hopkins	GRCh37	20	61512902	61512902	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000266070.4:c.4406C>T	p.Thr1469Met	p.T1469M	ENST00000266070	NM_033081.2	1469	aCg/aTg	0	0	0
CCDC33	0	John_Hopkins	GRCh37	15	74623611	74623611	+	missense_variant	Missense_Mutation	SNP	A	A	C	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000398814.3:c.1745A>C	p.Asn582Thr	p.N582T	ENST00000398814	NM_025055.4	582	aAc/aCc	0	0	0
HTR2C	0	John_Hopkins	GRCh37	X	114141720	114141720	+	missense_variant	Missense_Mutation	SNP	A	A	T	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000276198.1:c.1119A>T	p.Lys373Asn	p.K373N	ENST00000276198	NM_000868.2	373	aaA/aaT	0	0	0
MS4A13	0	John_Hopkins	GRCh37	11	60285636	60285636	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000378186.2:c.80C>T	p.Thr27Met	p.T27M	ENST00000378186	NM_001012417.2	27	aCg/aTg	0	0	0
BPIFB4	0	John_Hopkins	GRCh37	20	31671214	31671214	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000375483.3:c.218delC	p.Pro73GlnfsTer160	p.P73Qfs*160	ENST00000375483	NM_182519.2	71	Ccc/cc	0	0	0
NUP54	0	John_Hopkins	GRCh37	4	77065430	77065430	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000264883.3:c.167C>G	p.Thr56Ser	p.T56S	ENST00000264883	NM_001278603.1	56	aCt/aGt	0	0	0
DBP	0	John_Hopkins	GRCh37	19	49134196	49134198	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000222122.5:c.874_876del	p.Lys292del	p.K292del	ENST00000222122	NM_001352.3	292	AAG/-	0	0	0
SMC2	0	John_Hopkins	GRCh37	9	106864418	106864418	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000286398.7:c.820delA	p.Ile274Ter	p.I274*	ENST00000286398	NM_006444.2	272	Aaa/aa	0	0	0
ASPM	0	John_Hopkins	GRCh37	1	197111788	197111788	+	missense_variant	Missense_Mutation	SNP	T	T	A	NA	NA	ACINAR18	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000367409.4:c.1594A>T	p.Ile532Leu	p.I532L	ENST00000367409	NM_018136.4	532	Ata/Tta	0	0	0
ZNF468	0	John_Hopkins	GRCh37	19	53344851	53344851	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000595646.1:c.696delA	p.Lys232AsnfsTer4	p.K232Nfs*4	ENST00000595646		232	aaA/aa	0	0	0
APPL2	0	John_Hopkins	GRCh37	12	105600976	105600976	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000258530.3:c.484G>A	p.Glu162Lys	p.E162K	ENST00000258530	NM_001251904.1	162	Gaa/Aaa	0	0	0
MICAL3	0	John_Hopkins	GRCh37	22	18301647	18301647	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR10	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000441493.2:c.3780C>G	p.Ile1260Met	p.I1260M	ENST00000441493	NM_015241.2	1260	atC/atG	0	0	0
PCDHAC1	0	John_Hopkins	GRCh37	5	140308323	140308323	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000253807.2:c.1846G>T	p.Gly616Cys	p.G616C	ENST00000253807	NM_018898.3	616	Ggt/Tgt	0	0	0
PHLPP1	0	John_Hopkins	GRCh37	18	60562374	60562374	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000262719.5:c.2197G>A	p.Val733Ile	p.V733I	ENST00000262719		733	Gtt/Att	0	0	0
CERS1	0	John_Hopkins	GRCh37	19	18994970	18994970	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000427170.2:c.516G>T	p.Trp172Cys	p.W172C	ENST00000427170	NM_021267.3	172	tgG/tgT	0	0	0
PRRC2A	0	John_Hopkins	GRCh37	6	31599781	31599781	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000376007.4:c.3331G>A	p.Glu1111Lys	p.E1111K	ENST00000376007	NM_080686.2	1111	Gag/Aag	0	0	0
SIGLECL1	0	John_Hopkins	GRCh37	19	51768838	51768838	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000316401.7:c.239T>C	p.Met80Thr	p.M80T	ENST00000316401	NM_173635.1	80	aTg/aCg	0	0	0
ZNF750	0	John_Hopkins	GRCh37	17	80789420	80789420	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000269394.3:c.911A>G	p.His304Arg	p.H304R	ENST00000269394	NM_024702.2	304	cAc/cGc	0	0	0
ARHGEF15	0	John_Hopkins	GRCh37	17	8222644	8222644	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000361926.3:c.2201G>A	p.Arg734His	p.R734H	ENST00000361926	NM_173728.3	734	cGc/cAc	0	0	0
DPP10	0	John_Hopkins	GRCh37	2	116510755	116510755	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000410059.1:c.956A>G	p.Tyr319Cys	p.Y319C	ENST00000410059	NM_001178037.1	319	tAc/tGc	0	0	0
HEATR6	0	John_Hopkins	GRCh37	17	58125746	58125746	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000184956.6:c.2551G>T	p.Val851Phe	p.V851F	ENST00000184956	NM_022070.4	851	Gtc/Ttc	0	0	0
GJA8	0	John_Hopkins	GRCh37	1	147380780	147380780	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000369235.1:c.698G>A	p.Arg233Gln	p.R233Q	ENST00000369235		233	cGg/cAg	0	0	0
ARMC9	0	John_Hopkins	GRCh37	2	232220551	232220551	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000483477.1:n.2036C>T		*679*	ENST00000483477				0	0	0
TP53BP2	0	John_Hopkins	GRCh37	1	223971991	223971991	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000343537.7:c.3189G>A	p.Met1063Ile	p.M1063I	ENST00000343537	NM_001031685.2	1063	atG/atA	0	0	0
PRDM13	0	John_Hopkins	GRCh37	6	100061838	100061838	+	missense_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000369215.4:c.1327G>T	p.Gly443Cys	p.G443C	ENST00000369215	NM_021620.3	443	Ggt/Tgt	0	0	0
GNAS	0	John_Hopkins	GRCh37	20	57484420	57484420	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR21	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000371085.3:c.601C>T	p.Arg201Cys	p.R201C	ENST00000371085	NM_000516.4	201	Cgt/Tgt	0	0	0
HBP1	0	John_Hopkins	GRCh37	7	106826350	106826350	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000222574.4:c.503A>G	p.His168Arg	p.H168R	ENST00000222574	NM_012257.3	168	cAc/cGc	0	0	0
TP53	0	John_Hopkins	GRCh37	17	7579419	7579419	+	missense_variant	Missense_Mutation	SNP	A	A	T	NA	NA	ACINAR26	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000269305.4:c.268T>A	p.Ser90Thr	p.S90T	ENST00000269305	NM_001126112.2	90	Tcc/Acc	0	0	0
KLHL29	0	John_Hopkins	GRCh37	2	23862034	23862034	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000486442.1:c.311G>A	p.Ser104Asn	p.S104N	ENST00000486442	NM_052920.1	104	aGt/aAt	0	0	0
GART	0	John_Hopkins	GRCh37	21	34893238	34893238	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000381815.4:c.1478C>G	p.Thr493Arg	p.T493R	ENST00000381815	NM_000819.4	493	aCa/aGa	0	0	0
UBR4	0	John_Hopkins	GRCh37	1	19467923	19467923	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000375254.3:c.8406delC	p.Met2803CysfsTer16	p.M2803Cfs*16	ENST00000375254	NM_020765.2	2802	ccC/cc	0	0	0
DCHS2	0	John_Hopkins	GRCh37	4	155411087	155411087	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000339452.1:c.1421G>T	p.Gly474Val	p.G474V	ENST00000339452	NM_001142552.1	474	gGa/gTa	0	0	0
RP11-114H23.1	0	John_Hopkins	GRCh37	12	76358632	76358632	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000361500.2:n.50C>T		*17*	ENST00000361500				0	0	0
USP34	0	John_Hopkins	GRCh37	2	61632905	61632905	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000398571.2:c.490del	p.Ile164PhefsTer31	p.I164Ffs*31	ENST00000398571	NM_014709.3	164	Att/tt	0	0	0
POLR2B	0	John_Hopkins	GRCh37	4	57889600	57889600	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000314595.5:c.2620C>T	p.Pro874Ser	p.P874S	ENST00000314595	NM_000938.1	874	Cct/Tct	0	0	0
WDR62	0	John_Hopkins	GRCh37	19	36593926	36593926	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000270301.7:c.3397G>A	p.Gly1133Arg	p.G1133R	ENST00000270301		1133	Gga/Aga	0	0	0
XPNPEP2	0	John_Hopkins	GRCh37	X	128880253	128880253	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000371106.3:c.340G>A	p.Asp114Asn	p.D114N	ENST00000371106	NM_003399.5	114	Gac/Aac	0	0	0
SPDYE2B	0	John_Hopkins	GRCh37	7	102294074	102294074	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR05	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000436228.2:c.337T>C	p.Ser113Pro	p.S113P	ENST00000436228		113	Tcc/Ccc	0	0	0
AMIGO2	0	John_Hopkins	GRCh37	12	47472409	47472409	+	missense_variant	Missense_Mutation	SNP	G	G	C	NA	NA	ACINAR13	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000266581.4:c.377C>G	p.Ser126Cys	p.S126C	ENST00000266581	NM_181847.4	126	tCc/tGc	0	0	0
IGHM	0	John_Hopkins	GRCh37	14	106322067	106322067	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000390559.2:c.257T>C	p.Val86Ala	p.V86A	ENST00000390559		86	gTg/gCg	0	0	0
B3GALT4	0	John_Hopkins	GRCh37	6	33245637	33245637	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	NA	NA	ACINAR19	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000451237.1:c.441C>G	p.Tyr147Ter	p.Y147*	ENST00000451237	NM_003782.3	147	taC/taG	0	0	0
OR4N4	0	John_Hopkins	GRCh37	15	22382655	22382655	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000328795.4:c.183del	p.Leu61PhefsTer31	p.L61Ffs*31	ENST00000328795	NM_001005241.2	61	ttA/tt	0	0	0
ALPK3	0	John_Hopkins	GRCh37	15	85383288	85383288	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000258888.5:c.1384C>T	p.His462Tyr	p.H462Y	ENST00000258888	NM_020778.4	462	Cac/Tac	0	0	0
XPOT	0	John_Hopkins	GRCh37	12	64812755	64812755	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000332707.5:c.378delT	p.Phe126LeufsTer6	p.F126Lfs*6	ENST00000332707	NM_007235.4	124	Ttt/tt	0	0	0
RBFOX1	0	John_Hopkins	GRCh37	16	7102099	7102099	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	NA	NA	ACINAR20	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000547338.1:c.27G>T	p.Arg9Ser	p.R9S	ENST00000547338	NM_001142334.1	9	agG/agT	0	0	0
HIST1H4B	0	John_Hopkins	GRCh37	6	26027225	26027225	+	missense_variant	Missense_Mutation	SNP	C	C	A	NA	NA	ACINAR11	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000377364.3:c.256G>T	p.Asp86Tyr	p.D86Y	ENST00000377364	NM_003544.2	86	Gat/Tat	0	0	0
ZBTB41	0	John_Hopkins	GRCh37	1	197168668	197168670	+	inframe_deletion	In_Frame_Del	DEL	CTC	CTC	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000367405.4:c.934_936del	p.Glu312del	p.E312del	ENST00000367405	NM_194314.2	312	GAG/-	0	0	0
ZFP57	0	John_Hopkins	GRCh37	6	29641256	29641256	+	missense_variant	Missense_Mutation	SNP	A	A	G	NA	NA	ACINAR29	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000376881.3:c.572T>C	p.Leu191Ser	p.L191S	ENST00000376881		191	tTg/tCg	0	0	0
LRP2	0	John_Hopkins	GRCh37	2	169997025	169997025	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000263816.3:c.13139delC	p.Pro4380HisfsTer46	p.P4380Hfs*46	ENST00000263816	NM_004525.2	4380	cCa/ca	0	0	0
MYL7	0	John_Hopkins	GRCh37	7	44179171	44179171	+	splice_region_variant,intron_variant	Splice_Region	DEL	G	G	-	NA	NA	ACINAR09	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000223364.3:c.378-3delC		p.X126_splice	ENST00000223364	NM_021223.2			0	0	0
NKX2-1	0	John_Hopkins	GRCh37	14	36988220	36988220	+	missense_variant	Missense_Mutation	SNP	C	C	T	NA	NA	ACINAR03	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000498187.2:c.343G>A	p.Gly115Ser	p.G115S	ENST00000498187	NM_003317.3	115	Ggc/Agc	0	0	0
MAP3K12	0	John_Hopkins	GRCh37	12	53877189	53877189	+	missense_variant	Missense_Mutation	SNP	C	C	G	NA	NA	ACINAR06	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000267079.2:c.1458G>C	p.Met486Ile	p.M486I	ENST00000267079	NM_006301.3	486	atG/atC	0	0	0
RORB	0	John_Hopkins	GRCh37	9	77245233	77245233	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000396204.2:c.76G>A	p.Asp26Asn	p.D26N	ENST00000396204		26	Gat/Aat	0	0	0
SOGA3	0	John_Hopkins	GRCh37	6	127796643	127796643	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000481848.2:c.2528C>T	p.Ala843Val	p.A843V	ENST00000481848		843	gCg/gTg	0	0	0
ZNF460	0	John_Hopkins	GRCh37	19	57802949	57802949	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR15	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000360338.3:c.1040G>A	p.Cys347Tyr	p.C347Y	ENST00000360338	NM_006635.3	347	tGc/tAc	0	0	0
ZCCHC8	0	John_Hopkins	GRCh37	12	122966496	122966496	+	missense_variant	Missense_Mutation	SNP	T	T	C	NA	NA	ACINAR27	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000336229.4:c.871A>G	p.Ile291Val	p.I291V	ENST00000336229	NM_017612.3	291	Att/Gtt	0	0	0
SESN2	0	John_Hopkins	GRCh37	1	28599271	28599271	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	NA	NA	ACINAR01	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000253063.3:c.722delC	p.Pro241GlnfsTer6	p.P241Qfs*6	ENST00000253063	NM_031459.4	239	agC/ag	0	0	0
ALS2CL	0	John_Hopkins	GRCh37	3	46723062	46723062	+	missense_variant	Missense_Mutation	SNP	G	G	A	NA	NA	ACINAR28	NA	NA	NA					NA	NA	NA	NA	NA	NA	NA	NA	Illumina HiSeq	.	.	.	.	ENST00000318962.4:c.1202C>T	p.Ala401Val	p.A401V	ENST00000318962	NM_147129.3	401	gCc/gTc	0	0	0
