Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	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	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DSC1	1823	broad.mit.edu	37	18	28720061	28720061	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr18:28720061T>G	ENST00000257197.3	-	10	1725	c.1464A>C	c.(1462-1464)caA>caC	p.Q488H	DSC1_ENST00000257198.5_Missense_Mutation_p.Q488H|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	488	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CAAGGAGTTCTTGGCCAGCTG	0.433000													58	89					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57522804	57522804	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:57522804G>A	ENST00000420713.1	+	3	304	c.192G>A	c.(190-192)ttG>ttA	p.L64L		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AGCCAGACTTGATCACCTGTC	0.378000													50	98					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192280873	192280873	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:192280873C>T	ENST00000392318.3	+	30	3439	c.3192C>T	c.(3190-3192)ctC>ctT	p.L1064L	MYO1B_ENST00000339514.4_Silent_p.L1006L|MYO1B_ENST00000439065.2_Silent_p.L309L|MYO1B_ENST00000304164.4_Silent_p.L1064L|MYO1B_ENST00000392316.1_Silent_p.L1035L	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1064						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GAGACTTTCTCTTCAGCAGTG	0.438000													38	40					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916027	131916027	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:131916027C>T	ENST00000286355.5	-	7	3994	c.1902G>A	c.(1900-1902)ggG>ggA	p.G634G	ADCY8_ENST00000377928.3_Silent_p.G634G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	634					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CATTCTGTTTCCCCACGATAT	0.498000										HNSCC(32;0.087)			36	32					0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397463	57397463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:57397463C>T	ENST00000300101.2	-	2	1324	c.1239G>A	c.(1237-1239)tgG>tgA	p.W413*		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGGTCAGCTGCCACTGGGTAA	0.512000													34	51					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73068904	73068904	+	RNA	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:73068904G>A	ENST00000429829.1	-	0	3684					NR_001564.2																						GGATAATTGGGATTTTACTCA	0.418000													6	76					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52538108	52538108	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:52538108C>T	ENST00000594154.1	-	5	1036	c.824G>A	c.(823-825)cGt>cAt	p.R275H	ZNF432_ENST00000221315.5_Missense_Mutation_p.R275H			O94892	ZN432_HUMAN	zinc finger protein 432	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TTCAATCAGACGGCTCTTCAT	0.393000													50	108					0	0	1	0	0
C6orf57	135154	broad.mit.edu	37	6	71289221	71289221	+	Missense_Mutation	SNP	C	C	T	rs34711085	byFrequency	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:71289221C>T	ENST00000370474.3	+	2	193	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C		NM_145267.2	NP_660310.2	Q5VUM1	CF057_HUMAN	chromosome 6 open reading frame 57	57			R -> C (in dbSNP:rs34711085).			extracellular region				kidney(1)|lung(1)|skin(1)	3						ACCAGAAGGTCGTTTTGATGC	0.403000													43	88					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523737	24523737	+	Missense_Mutation	SNP	G	G	A	rs140803711	by1000genomes	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:24523737G>A	ENST00000376862.3	+	2	637	c.4G>A	c.(4-6)Gat>Aat	p.D2N		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	2					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GAGTACCATGGATGGCATCAT	0.507000													48	106					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220953	118220953	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:118220953C>T	ENST00000402510.2	-	11	4239	c.4240G>A	c.(4240-4242)Ggt>Agt	p.G1414S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1414										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTTTGGAACCTTGGCTGAAT	0.458000													68	143					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33681035	33681035	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr13:33681035G>A	ENST00000336934.5	-	13	3200	c.3084C>T	c.(3082-3084)acC>acT	p.T1028T	STARD13_ENST00000399365.3_Silent_p.T910T|STARD13_ENST00000255486.4_Silent_p.T1020T	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	1028	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGGACACCAGGGTACACATTC	0.532000													40	75					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679389	160679389	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:160679389G>A	ENST00000366952.1	-	3	1819	c.338C>T	c.(337-339)tCc>tTc	p.S113F	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.S134F			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	134					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGTGACGATGGACGAGCCAGG	0.617000													80	86					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141419	143141419	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:143141419C>T	ENST00000332690.1	+	1	874	c.874C>T	c.(874-876)Cac>Tac	p.H292Y	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	292					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGCAGCAGTTCACCCCATCAT	0.488000													63	236					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22049657	22049657	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:22049657C>T	ENST00000306385.5	+	9	1843	c.1173C>T	c.(1171-1173)ccC>ccT	p.P391P	BMP1_ENST00000306349.8_Silent_p.P391P|BMP1_ENST00000397816.3_Silent_p.P391P|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Silent_p.P391P	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	391	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGAAGGCGCCCCTCCGAGGTA	0.622000													36	54					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110431459	110431459	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:110431459G>A	ENST00000378402.5	+	22	2598	c.2494G>A	c.(2494-2496)Gga>Aga	p.G832R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	832					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGTACATTGGACACACATC	0.328000										HNSCC(38;0.096)			13	15					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814460	137814460	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:137814460C>T	ENST00000409968.1	+	3	788	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	THSD7B_ENST00000272643.3_Missense_Mutation_p.R204C|THSD7B_ENST00000413152.2_Missense_Mutation_p.R173C|THSD7B_ENST00000543459.1_Missense_Mutation_p.R63C					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCATAGAACTCGCGCGGTCAT	0.507000													30	166					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42572294	42572294	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:42572294C>T	ENST00000438259.2	+	4	436	c.50C>T	c.(49-51)tCt>tTt	p.S17F	VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000433647.1_Silent_p.V179V|VIPR1_ENST00000543411.1_Silent_p.V172V|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000325123.4_Silent_p.V220V	NM_001251883.1	NP_001238812.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	0					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CAGCCATGGTCTTTTTCCAAT	0.572000													38	62					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63666900	63666900	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:63666900T>C	ENST00000409562.3	-	7	736	c.490A>G	c.(490-492)Atc>Gtc	p.I164V	WDPCP_ENST00000272321.7_Missense_Mutation_p.I164V|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000409199.1_Intron			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	164					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CCATCACTGATGGTGTCTGAG	0.478000													54	67					0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6426478	6426478	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:6426478G>A	ENST00000321510.6	-	7	1103	c.1035C>T	c.(1033-1035)ccC>ccT	p.P345P		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	345					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						TCAGTAGCGTGGGGGTCATGC	0.597000													29	71					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110246104	110246104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:110246104G>A	ENST00000418703.2	-	2	650	c.556C>T	c.(556-558)Cga>Tga	p.R186*	TRPV4_ENST00000537083.1_Nonsense_Mutation_p.R186*|TRPV4_ENST00000536838.1_Nonsense_Mutation_p.R152*|TRPV4_ENST00000541794.1_Nonsense_Mutation_p.R186*|TRPV4_ENST00000261740.2_Nonsense_Mutation_p.R186*|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.R186*|TRPV4_ENST00000392719.2_Nonsense_Mutation_p.R186*|TRPV4_ENST00000544971.1_Nonsense_Mutation_p.R186*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	186					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGCTCACCTCGAAACTCCTCA	0.597000													26	35					0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490215	141490215	+	Silent	SNP	C	C	T	rs149618467		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:141490215C>T	ENST00000247883.4	+	1	199	c.54C>T	c.(52-54)ctC>ctT	p.L18L		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	18					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TTGAATTTCTCATCGGTTTAA	0.517000													37	100					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65268025	65268025	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:65268025G>A	ENST00000389722.3	-	6	794	c.741C>T	c.(739-741)atC>atT	p.I247I	SPTB_ENST00000542895.1_Silent_p.I247I|SPTB_ENST00000389720.3_Silent_p.I247I|SPTB_ENST00000389721.5_Silent_p.I247I|SPTB_ENST00000556626.1_Silent_p.I247I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	247	Actin-binding.|CH 2.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGAGCGGGATGATGCCCAGCT	0.632000											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	53					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088341	57088341	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:57088341C>T	ENST00000330619.8	+	6	1230	c.544C>T	c.(544-546)Cat>Tat	p.H182Y	ZNF470_ENST00000391709.3_Missense_Mutation_p.H182Y|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GACAGTTTTTCATCTGAATAC	0.303000													23	54					0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35129997	35129997	+	RNA	SNP	C	C	T	rs5023104		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:35129997C>T	ENST00000436258.1	-	0	3372																											CCAACAATTTCTCTCCTACTT	0.303000													89	101					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4117509	4117509	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:4117509C>T	ENST00000262948.5	-	2	464	c.211G>A	c.(211-213)Gac>Aac	p.D71N	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	71					activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTCGAAGTCATCGTCTTTG	0.592000													66	89					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130775297	130775297	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:130775297G>A	ENST00000509018.1	-	24	3927	c.3722C>T	c.(3721-3723)tCt>tTt	p.S1241F	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S1241F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1249F|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.S964F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1249F|FNIP1_ENST00000514667.1_Missense_Mutation_p.S1291F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1254F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1241	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCCTTGAGGAGATGCAGGAGG	0.358000													12	18					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1878354	1878354	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:1878354G>A	ENST00000505790.1	-	6	1745	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	IRX4_ENST00000513692.1_Missense_Mutation_p.S430F|IRX4_ENST00000231357.2_Missense_Mutation_p.S430F	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	430					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GGTTACCGGGGAGTCCTGGTG	0.701000													13	6					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420531	56420531	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:56420531A>G	ENST00000407595.2	+	2	1698	c.1196A>G	c.(1195-1197)gAg>gGg	p.E399G	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	399										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGGCACAGGAGGACGGGTCA	0.617000													5	11					0	0	1	0	0
YIPF3	25844	broad.mit.edu	37	6	43480870	43480870	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:43480870G>A	ENST00000372422.2	-	6	785	c.603C>T	c.(601-603)ttC>ttT	p.F201F	YIPF3_ENST00000506469.1_Silent_p.F207F	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	201					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGAAGTAAATGAAGGATGAGA	0.557000													82	149					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954302	75954302	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:75954302C>T	ENST00000274364.6	+	21	2636	c.2339C>T	c.(2338-2340)cCa>cTa	p.P780L	IQGAP2_ENST00000379730.3_Missense_Mutation_p.P282L|IQGAP2_ENST00000396234.3_Missense_Mutation_p.P276L|IQGAP2_ENST00000502745.1_Missense_Mutation_p.P276L	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	780					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAAAACCCACCATTAACAGTA	0.393000													31	70					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76124489	76124489	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:76124489C>T	ENST00000393004.2	-	2	421	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	FILIP1_ENST00000237172.7_Missense_Mutation_p.R67Q			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	67										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTTAGTTTTTCGTTCACATTC	0.408000													136	203					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151914317	151914317	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:151914317C>T	ENST00000367290.5	+	8	1458	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	CCDC170_ENST00000239374.7_Missense_Mutation_p.R457W			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	457								p.R457W(1)									CTTTGACATGCGGCTGGACGT	0.443000													27	51					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40693051	40693051	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:40693051C>T	ENST00000225927.2	+	5	949	c.848C>T	c.(847-849)cCg>cTg	p.P283L	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	283						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTTCTGGCTCCGGAAGACCCC	0.537000													95	133					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76330191	76330191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:76330191C>T	ENST00000298832.9	+	29	3713	c.3508C>T	c.(3508-3510)Cga>Tga	p.R1170*	TTLL5_ENST00000554510.1_Nonsense_Mutation_p.R679*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.R721*|TTLL5_ENST00000557636.1_Nonsense_Mutation_p.R1185*	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1170					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGACCAGAGTCGAGCCCGGCA	0.438000													48	95					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156622474	156622474	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:156622474C>T	ENST00000329117.4	+	8	2068	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.P578S	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	578					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATCTGGGGTCCCTCGAGGAGA	0.647000													24	80					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56088041	56088041	+	Splice_Site	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:56088041C>T	ENST00000257880.7	-	19	2782	c.2564_splice	c.e19+1	p.G855_splice	ITGA7_ENST00000257879.6_Splice_Site_p.G811_splice|ITGA7_ENST00000555728.1_Splice_Site_p.G855_splice|ITGA7_ENST00000394230.2_Splice_Site_p.G815_splice|ITGA7_ENST00000452168.2_Splice_Site_p.G718_splice|ITGA7_ENST00000553804.1_Splice_Site_p.G815_splice|ITGA7_ENST00000394229.2_Splice_Site_p.G811_splice|ITGA7_ENST00000347027.6_Splice_Site_p.G805_splice			Q13683	ITA7_HUMAN	integrin, alpha 7	855					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGGCTCACCCTGCAATGGAC	0.612000													97	181					0	0	1	0	0
PGM5P2	595135	broad.mit.edu	37	9	69112983	69112983	+	RNA	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:69112983C>T	ENST00000591037.1	-	0	1068					NR_002836.2																						GGCCTAGGATCATATAACGGT	0.478000													21	97					0	0	1	0	0
RNF113A	7737	broad.mit.edu	37	X	119005117	119005117	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:119005117G>A	ENST00000371442.2	-	1	674	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	154							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TTGATTCCCCGATAGATCTTG	0.542000													258	472					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61271431	61271431	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:61271431C>T	ENST00000424789.2	+	4	295	c.291C>T	c.(289-291)ctC>ctT	p.L97L	TANC2_ENST00000389520.4_Silent_p.L97L|AC037445.1_ENST00000581421.1_RNA|AC037445.1_ENST00000435892.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	97							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGGGTTTCCTCCTTGGAGAGA	0.473000													15	23					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677772	100677772	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:100677772C>T	ENST00000306151.4	+	3	3139	c.3075C>T	c.(3073-3075)ccC>ccT	p.P1025P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1025	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTCCTCCCACTGCTGAAG	0.512000													275	410					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44782133	44782133	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:44782133G>A	ENST00000266534.3	+	8	1350	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.G304E|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	408						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GTGTGGTTTGGATTCTTTATT	0.418000													42	88					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40475346	40475346	+	Silent	SNP	G	G	A	rs146817483	byFrequency	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:40475346G>A	ENST00000264657.5	-	19	1992	c.1680C>T	c.(1678-1680)tcC>tcT	p.S560S	STAT3_ENST00000404395.3_Silent_p.S560S|STAT3_ENST00000389272.3_Silent_p.S462S|STAT3_ENST00000585517.1_Silent_p.S560S|STAT3_ENST00000588969.1_Silent_p.S560S	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	560					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AGACCCAGAAGGAGAAGCCCT	0.512000									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	122					0	0	1	0	0
IER2	9592	broad.mit.edu	37	19	13264502	13264502	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:13264502G>A	ENST00000588173.1	+	1	1714	c.502G>A	c.(502-504)Gag>Aag	p.E168K	CTC-250I14.6_ENST00000586483.1_RNA|CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000292433.3_Missense_Mutation_p.E168K|IER2_ENST00000587885.1_Missense_Mutation_p.E168K			Q9BTL4	IER2_HUMAN	immediate early response 2	168								p.E168K(1)		kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GGCGCAAGCGGAGGGCGCCTT	0.697000													10	23					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455236	29455236	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:29455236G>A	ENST00000377127.3	-	1	502	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	148						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						ATATGGCCAGGAAATCAGGGA	0.512000													39	45					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124761347	124761347	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:124761347G>A	ENST00000306534.3	-	12	2281	c.1796C>T	c.(1795-1797)cCc>cTc	p.P599L	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.P454L	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	599					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGGGACCTGGGGACTTGGCCT	0.662000													25	38					0	0	1	0	0
PRSS21	10942	broad.mit.edu	37	16	2871568	2871568	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:2871568C>T	ENST00000455114.1	+	6	1007	c.901C>T	c.(901-903)Cct>Tct	p.P301S	PRSS21_ENST00000005995.3_Missense_Mutation_p.P303S|PRSS21_ENST00000450020.3_Missense_Mutation_p.P289S|PRSS21_ENST00000575739.1_Intron	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	303					proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						ACTCTTTTTCCCTCTTCTCTG	0.597000													21	61					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56472750	56472750	+	Silent	SNP	A	A	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:56472750A>G	ENST00000370754.5	-	39	6576	c.6577T>C	c.(6577-6579)Ttg>Ctg	p.L2193L	DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Silent_p.L2015L|DST_ENST00000312431.6_Silent_p.L2015L|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Silent_p.L1689L|DST_ENST00000370769.4_Silent_p.L2015L|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2015					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCCTCATCCAAGTCTCCATCG	0.393000													23	54					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36297917	36297917	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:36297917A>T	ENST00000437635.2	-	2	728	c.551T>A	c.(550-552)tTg>tAg	p.L184*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	184										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TGCCTTGGACAACCCTTCCTC	0.642000													49	69					0	0	1	0	0
TFF1	7031	broad.mit.edu	37	21	43783497	43783497	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:43783497G>A	ENST00000291527.2	-	2	203	c.105C>T	c.(103-105)ccC>ccT	p.P35P		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	35	P-type.				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						GTCTTTCACGGGGGGCCACTG	0.527000													18	31					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686465	108686465	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:108686465A>T	ENST00000312143.7	-	3	638	c.275T>A	c.(274-276)cTc>cAc	p.L92H	CMKLR1_ENST00000552995.1_Missense_Mutation_p.L90H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.L92H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.L92H|CMKLR1_ENST00000397688.2_Missense_Mutation_p.L90H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	92					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ATGGATTGGGAGGAAGACGTT	0.498000													38	74					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81624251	81624251	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:81624251C>T	ENST00000356860.3	-	20	2005	c.1667G>A	c.(1666-1668)cGa>cAa	p.R556Q	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R575Q	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	575	Cache.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CATCTTATTTCGAATCTAAGA	0.308000													14	34					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758123	141758123	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:141758123C>T	ENST00000475668.2	+	31	3868	c.3814C>T	c.(3814-3816)Cct>Tct	p.P1272S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1272S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1272	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCCCAGATCCCTTATGTACG	0.478000													209	166					0	0	1	0	0
DAPP1	27071	broad.mit.edu	37	4	100738096	100738096	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:100738096G>A	ENST00000296414.7	+	1	107	c.26G>A	c.(25-27)gGg>gAg	p.G9E	DAPP1_ENST00000512369.1_Missense_Mutation_p.G9E			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	9					signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		CTTCTAGAAGGGAAGATGAGC	0.552000													4	9					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22049656	22049656	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:22049656C>T	ENST00000306385.5	+	9	1842	c.1172C>T	c.(1171-1173)cCc>cTc	p.P391L	BMP1_ENST00000306349.8_Missense_Mutation_p.P391L|BMP1_ENST00000397816.3_Missense_Mutation_p.P391L|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.P391L	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	391	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGAAGGCGCCCCTCCGAGGT	0.622000													35	55					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79412050	79412050	+	Silent	SNP	T	T	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:79412050T>G	ENST00000370742.3	-	3	297	c.234A>C	c.(232-234)acA>acC	p.T78T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	78	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AACTTCCTTCTGTGTTAGTGC	0.348000													12	32					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37029196	37029196	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:37029196G>A	ENST00000358047.3	+	1	2765	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	905								p.E905*(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCTAGACGAAATGGATGA	0.448000													60	103					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7605808	7605808	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:7605808G>A	ENST00000316024.5	+	7	3450	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R	WRAP53_ENST00000396463.2_Missense_Mutation_p.G368R|WRAP53_ENST00000534050.1_Missense_Mutation_p.G335R|WRAP53_ENST00000457584.2_Missense_Mutation_p.G368R|WRAP53_ENST00000431639.2_Missense_Mutation_p.G368R			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	368					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						AGGGCACCAAGGGGGCATCAC	0.647000													24	25					0	0	1	0	0
LEMD1	93273	broad.mit.edu	37	1	205350876	205350876	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:205350876G>A	ENST00000391936.2	-	4	448	c.314C>T	c.(313-315)tCc>tTc	p.S105F	LEMD1_ENST00000367152.1_Silent_p.F111F|LEMD1_ENST00000367154.1_Missense_Mutation_p.S105F|LEMD1_ENST00000367153.4_Silent_p.F152F|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367149.3_Missense_Mutation_p.S64F|LEMD1_ENST00000367151.2_Silent_p.F111F|LEMD1_ENST00000476884.1_5'UTR	NM_001001552.4	NP_001001552.3	Q68G75	LEMD1_HUMAN	LEM domain containing 1	0						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			AGCCCACTGGGAAACCTTCTT	0.458000													167	203					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44108053	44108053	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:44108053C>T	ENST00000291539.6	+	3	227	c.167C>T	c.(166-168)aCc>aTc	p.T56I	PDE9A_ENST00000398234.3_Missense_Mutation_p.T15I|PDE9A_ENST00000380328.2_Missense_Mutation_p.T56I|PDE9A_ENST00000335512.4_Missense_Mutation_p.T56I|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398229.3_Missense_Mutation_p.T15I|PDE9A_ENST00000335440.6_Silent_p.H32H|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398225.3_Missense_Mutation_p.T15I|PDE9A_ENST00000539837.1_Missense_Mutation_p.T21I|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000398232.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	56					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						CTGCTGACCACCGACGACGCC	0.597000													24	60					0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566603	103566603	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:103566603C>T	ENST00000380069.3	+	1	123	c.47C>T	c.(46-48)cCc>cTc	p.P16L		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	16										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CTGCAGAGTCCCAAGGAGGCT	0.627000													3	8					0	0	1	0	0
SUCLA2	8803	broad.mit.edu	37	13	48571129	48571129	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr13:48571129G>A	ENST00000378654.3	-	2	176	c.120C>T	c.(118-120)aaC>aaT	p.N40N	SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000534875.1_5'UTR|SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000543413.1_5'UTR	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	40				N -> D (in Ref. 2; BAA91939).	succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	GGAGTCCATGGTTATTAAACA	0.403000													38	69					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57731937	57731937	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:57731937G>A	ENST00000360716.3	+	3	297	c.76G>A	c.(76-78)Gcg>Acg	p.A26T	CCDC135_ENST00000336825.8_Missense_Mutation_p.A26T|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Missense_Mutation_p.A26T			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	26						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGCTGAATGGGCGAGGATGGA	0.587000													41	65					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085914	92085914	+	Silent	SNP	C	C	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:92085914C>A	ENST00000298047.6	+	1	653	c.636C>A	c.(634-636)gtC>gtA	p.V212V	FAT3_ENST00000409404.2_Silent_p.V212V|FAT3_ENST00000525166.1_Silent_p.V62V|FAT3_ENST00000541502.1_Silent_p.V212V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	212	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGAGTGGTGTCATCTCCTTAA	0.398000										TCGA Ovarian(4;0.039)			13	95					2.27111e-07	2.291e-07	1	1	0
CR1	1378	broad.mit.edu	37	1	207753909	207753909	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:207753909C>T	ENST00000367049.4	+	31	5167	c.5167C>T	c.(5167-5169)Cca>Tca	p.P1723S	RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.P1273S|CR1_ENST00000367053.1_Missense_Mutation_p.P1273S|CR1_ENST00000367051.1_Missense_Mutation_p.P1273S|CR1_ENST00000400960.2_Missense_Mutation_p.P1273S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1273	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGTGCTATTTCCACTTAATCT	0.443000													185	261					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39347067	39347067	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:39347067G>A	ENST00000381897.1	-	3	295	c.162C>T	c.(160-162)ttC>ttT	p.F54F	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Silent_p.F54F	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	54					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCTTTTGTTTGAAGTCATCCT	0.299000													19	43					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46443951	46443951	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:46443951C>T	ENST00000263257.5	-	4	843	c.649G>A	c.(649-651)Gtg>Atg	p.V217M		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	217						nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGCCTGCCACGTTGGCGTAG	0.706000													23	20					0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	25004125	25004125	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:25004125C>T	ENST00000537502.1	-	2	2066	c.535G>A	c.(535-537)Gat>Aat	p.D179N	ACSS1_ENST00000432802.2_Missense_Mutation_p.D262N|ACSS1_ENST00000542618.1_Missense_Mutation_p.D141N|ACSS1_ENST00000323482.4_Missense_Mutation_p.D262N			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	262					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACGTCCAGATCCCCCATGTGG	0.567000													39	38					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121238957	121238957	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:121238957G>A	ENST00000297848.3	+	16	2226	c.1956G>A	c.(1954-1956)ggG>ggA	p.G652G	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.G557G|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Silent_p.G652G	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	652	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTGATGAAGGGCTACACAAAT	0.453000													17	21					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863714	55863714	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:55863714G>A	ENST00000327335.4	-	1	208	c.209C>T	c.(208-210)tCa>tTa	p.S70L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AGTTGTGAATGAAATTTCCAG	0.388000													34	60					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890479	197890479	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:197890479C>T	ENST00000367390.3	+	4	423	c.396C>T	c.(394-396)tcC>tcT	p.S132S	LHX9_ENST00000561173.1_Silent_p.S147S|LHX9_ENST00000337020.2_Silent_p.S141S|LHX9_ENST00000367387.4_Silent_p.S141S|LHX9_ENST00000367391.1_Silent_p.S132S	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	141	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTGGCATTTCCGCCTCGGAGA	0.572000													55	68					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73732202	73732202	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:73732202C>T	ENST00000200181.3	+	14	1915	c.1728C>T	c.(1726-1728)ccC>ccT	p.P576P	ITGB4_ENST00000450894.3_Silent_p.P576P|ITGB4_ENST00000579662.1_Silent_p.P576P|ITGB4_ENST00000449880.2_Silent_p.P576P|ITGB4_ENST00000339591.3_Silent_p.P576P|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	576	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGACTGTCCCCTCAGCAATG	0.592000													76	115					0	0	1	0	0
TMBIM6	7009	broad.mit.edu	37	12	50149438	50149438	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:50149438G>A	ENST00000423828.1	+	4	688	c.360G>A	c.(358-360)ttG>ttA	p.L120L	TMBIM6_ENST00000552699.1_Silent_p.L120L|TMBIM6_ENST00000549385.1_Silent_p.L62L|TMBIM6_ENST00000395006.4_Silent_p.L62L|TMBIM6_ENST00000547798.1_Silent_p.L25L|TMBIM6_ENST00000267115.5_Silent_p.L62L	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	62					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTCTGCCTTGGGCTCCCTGA	0.413000													80	135					0	0	1	0	0
RBM11	54033	broad.mit.edu	37	21	15599431	15599431	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:15599431T>G	ENST00000400577.3	+	5	672	c.663T>G	c.(661-663)gaT>gaG	p.D221E	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	221							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		ATGTTCCAGATCTTGAGGCTG	0.433000													12	349					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156400	70156400	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:70156400C>T	ENST00000335568.5	+	5	1183	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	394					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GTAGGCATTCCATTGTTTTGG	0.463000													69	128					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588838	247588838	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:247588838G>A	ENST00000366497.2	+	4	2873	c.2093G>A	c.(2092-2094)gGc>gAc	p.G698D	NLRP3_ENST00000336119.3_Missense_Mutation_p.G698D|NLRP3_ENST00000366496.2_Missense_Mutation_p.G698D|NLRP3_ENST00000391828.3_Missense_Mutation_p.G698D|NLRP3_ENST00000348069.2_Missense_Mutation_p.G698D|NLRP3_ENST00000391827.2_Missense_Mutation_p.G698D|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	698					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAAAGGAAGGCCGACACCTT	0.527000													30	51					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38950240	38950240	+	Missense_Mutation	SNP	G	G	A	rs150448547		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:38950240G>A	ENST00000306658.7	-	6	1102	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	346	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CTGGATCTGCGCCAGCTGCGT	0.577000													5	317					0	0	1	0	0
IGHV3-74	28408	broad.mit.edu	37	14	107218810	107218810	+	RNA	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:107218810C>T	ENST00000424969.2	-	0	452																											CTACTCCCATCACTATTAATA	0.547000													117	174					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304540	115304540	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:115304540C>T	ENST00000371906.4	+	3	1197	c.1007C>T	c.(1006-1008)cCa>cTa	p.P336L		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	336					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TTTAGGGTTCCAATTACTTGG	0.448000													88	119					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61945100	61945100	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:61945100G>A	ENST00000422202.1	+	17	2304	c.2236G>A	c.(2236-2238)Gtg>Atg	p.V746M	COL20A1_ENST00000358894.6_Missense_Mutation_p.V739M|COL20A1_ENST00000326996.6_Missense_Mutation_p.V739M|COL20A1_ENST00000435874.1_Missense_Mutation_p.V746M			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	739	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCAGCCACGGTGAGCAGGAG	0.697000													12	25					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34125493	34125493	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:34125493G>A	ENST00000297161.2	+	14	1908	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	BMPER_ENST00000426693.1_Missense_Mutation_p.D512N	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	512	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AATTGGTGGAGATGGAAACTT	0.468000													31	60					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141747174	141747174	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:141747174G>A	ENST00000389484.3	-	17	3668	c.2697C>T	c.(2695-2697)atC>atT	p.I899I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	899	LDL-receptor class A 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCTCTTGGGGATGCAGCGAT	0.408000										TSP Lung(27;0.18)			7	69					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108813893	108813893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:108813893C>T	ENST00000232603.5	-	7	528	c.446G>A	c.(445-447)tGg>tAg	p.W149*	MORC1_ENST00000483760.1_Nonsense_Mutation_p.W149*	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	149					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCTTATTAACCATGAGGGCAT	0.294000													19	10					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130449167	130449167	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:130449167C>T	ENST00000356763.3	-	5	2127	c.1570G>A	c.(1570-1572)Gga>Aga	p.G524R		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	524					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TCATAATTTCCATTTGGATGT	0.308000													32	56					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1592331	1592331	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:1592331C>T	ENST00000279477.7	-	2	169	c.105G>A	c.(103-105)gtG>gtA	p.V35V	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.V35V|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	35	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CAGGCTGAATCACCTGCAGCT	0.517000													24	6					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172025191	172025191	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:172025191C>T	ENST00000336824.4	+	10	1199	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	FNDC3B_ENST00000416957.1_Missense_Mutation_p.S367F|FNDC3B_ENST00000415807.2_Missense_Mutation_p.S367F	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	367	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGATCCTGCTCCGAGCCTGTT	0.502000													42	84					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56995395	56995395	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:56995395G>A	ENST00000179765.5	-	21	4115	c.3916C>T	c.(3916-3918)Ccg>Tcg	p.P1306S	BAZ2A_ENST00000549884.1_Missense_Mutation_p.P1336S|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P1338S|BAZ2A_ENST00000379441.3_Missense_Mutation_p.P1308S			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1338	Pro-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCAGGGGGCGGTGTGGGGGCA	0.567000													44	62					0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587487	36587487	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr22:36587487G>A	ENST00000332987.1	-	7	1102	c.680C>T	c.(679-681)tCt>tTt	p.S227F	APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.S230F			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	231					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						AAGTGCAAAAGAAAGCACATT	0.478000													21	23					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336903	115336903	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:115336903C>T	ENST00000337530.6	+	2	839	c.543C>T	c.(541-543)tcC>tcT	p.S181S	KIAA1958_ENST00000536272.1_Silent_p.S181S|KIAA1958_ENST00000374244.3_Silent_p.S181S	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	181										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TCCCATCTTCCCTCCATTCAA	0.448000													50	19					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910576	35910576	+	Silent	SNP	A	A	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:35910576A>G	ENST00000397367.2	-	3	333	c.207T>C	c.(205-207)aaT>aaC	p.N69N	CAPSL_ENST00000397366.1_Silent_p.N69N|CAPSL_ENST00000514524.1_Silent_p.N69N	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	69	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CAGCATAATCATTTAACCCTT	0.323000													38	75					0	0	1	0	0
ADCK3	56997	broad.mit.edu	37	1	227152834	227152834	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:227152834C>T	ENST00000366779.1	+	8	3082	c.311C>T	c.(310-312)cCc>cTc	p.P104L	ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366775.1_5'UTR|ADCK3_ENST00000366776.1_Intron|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Missense_Mutation_p.P104L|ADCK3_ENST00000366778.1_Missense_Mutation_p.P52L			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	104					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CAGTCAGCGCCCCCATCCCTG	0.667000													29	42					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50213085	50213085	+	RNA	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:50213085G>A	ENST00000376025.2	-	0	652							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					tggcgatggcgatggcgaGGT	0.557000													28	43					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56030754	56030754	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:56030754C>T	ENST00000309675.2	+	1	111	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GCAGGGCCCCCTGTTCTGGGT	0.582000													74	119					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135669945	135669945	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:135669945G>A	ENST00000520727.1	-	3	318	c.19C>T	c.(19-21)Ctc>Ttc	p.L7F	ZFAT_ENST00000520214.1_Missense_Mutation_p.L7F|ZFAT_ENST00000523399.1_Missense_Mutation_p.L19F|ZFAT_ENST00000377838.3_Missense_Mutation_p.L19F|ZFAT_ENST00000429442.2_Missense_Mutation_p.L7F|ZFAT_ENST00000520356.1_Missense_Mutation_p.L7F	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGTGAGAAGAGGTTACAACAT	0.373000													18	56					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52735054	52735054	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:52735054C>T	ENST00000306051.2	+	1	624	c.522C>T	c.(520-522)ttC>ttT	p.F174F	PTGDR_ENST00000553372.1_Silent_p.F174F	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	174						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TCGGGAAGTTCGTGCAGTACT	0.642000													71	120					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72317017	72317017	+	Splice_Site	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:72317017C>T	ENST00000340595.3	+	8	1385	c.1190_splice	c.e8+1	p.R397_splice	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Splice_Site_p.R441_splice|SLC4A4_ENST00000351898.6_Splice_Site_p.R441_splice|SLC4A4_ENST00000425175.1_Splice_Site_p.R441_splice|SLC4A4_ENST00000512686.1_Splice_Site_p.R397_splice	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	441						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.R397W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GCGAACTGGACGGTAACTGAC	0.438000													31	30					0	0	1	0	0
KLRG1	10219	broad.mit.edu	37	12	9147719	9147719	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:9147719C>T	ENST00000266551.4	+	3	207	c.192C>T	c.(190-192)tcC>tcT	p.S64S	KLRG1_ENST00000356986.3_Silent_p.S64S|RP11-259O18.4_ENST00000545706.1_RNA|KLRG1_ENST00000538029.1_Intron	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	64					cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						TCCTAGGCTCCAACTACTCCA	0.463000													39	42					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161119169	161119169	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:161119169C>T	ENST00000523217.1	+	8	1261	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	GABRA6_ENST00000274545.5_Missense_Mutation_p.S350L	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	350					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTGACAATATCAAAAGCTACT	0.423000										TCGA Ovarian(5;0.080)			53	99					0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51411917	51411917	+	Silent	SNP	G	G	A	rs138226475		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:51411917G>A	ENST00000324041.1	-	3	392	c.393C>T	c.(391-393)acC>acT	p.T131T	KLK4_ENST00000431178.2_Silent_p.T82T	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	131	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TGCTCCGGATGGTGTCAGACT	0.597000													47	64					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086340	55086340	+	Silent	SNP	C	C	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:55086340C>G	ENST00000251377.3	+	5	628	c.495C>G	c.(493-495)cgC>cgG	p.R165R	LILRA2_ENST00000251376.3_Silent_p.R165R|LILRA2_ENST00000391738.3_Silent_p.R165R|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.R153R|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000495786.1_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACCCACAACGCCTGAACTCCC	0.577000													67	146					0	0	1	0	0
LOC400867	400867	broad.mit.edu	37	21	40250688	40250688	+	RNA	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:40250688G>A	ENST00000380931.2	-	0	2349																											CAAAATTGAGGGATCTGGGCA	0.393000													65	119					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120621919	120621919	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:120621919G>A	ENST00000300648.6	-	4	325	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	105					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTTACCTGGGAACACCTGCT	0.547000													41	85					0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51411723	51411723	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:51411723C>T	ENST00000324041.1	-	4	503	c.504G>A	c.(502-504)gtG>gtA	p.V168V	KLK4_ENST00000431178.2_Intron	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	168	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CCGACACGTTCACGCACTGCA	0.632000													84	131					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272604	52272604	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:52272604G>A	ENST00000598776.1	+	2	1465	c.693G>A	c.(691-693)aaG>aaA	p.K231K	FPR2_ENST00000340023.6_Silent_p.K231K|FPR2_ENST00000598953.1_Silent_p.K231K	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	231					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCCACAAAAAGGGCATGATTA	0.502000													32	63					0	0	1	0	0
LINC01410	103352539	broad.mit.edu	37	9	66468727	66468727	+	RNA	SNP	G	G	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:66468727G>T	ENST00000424345.1	+	0	2294																											ggctggcagtgcatattggct	0.488000													3	11					0.150653	0.150653	1	1	0
ZNF540	163255	broad.mit.edu	37	19	38103904	38103904	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:38103904G>A	ENST00000592533.1	+	5	2055	c.1723G>A	c.(1723-1725)Ggt>Agt	p.G575S	ZNF540_ENST00000589117.1_Missense_Mutation_p.G543S|ZNF540_ENST00000316433.4_Missense_Mutation_p.G575S|ZNF540_ENST00000343599.5_Missense_Mutation_p.G575S	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCATACGGGTGTAAAACC	0.388000													55	92					0	0	1	0	0
MIR646HG	284757	broad.mit.edu	37	20	58883571	58883571	+	RNA	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:58883571C>T	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						acctgcttttcacctgtgatc	0.552000													29	51					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26684616	26684616	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:26684616C>T	ENST00000272371.2	-	43	5607	c.5481G>A	c.(5479-5481)cgG>cgA	p.R1827R	OTOF_ENST00000339598.3_Silent_p.R1060R|OTOF_ENST00000402415.3_Silent_p.R1137R|OTOF_ENST00000338581.6_Silent_p.R1060R|OTOF_ENST00000403946.3_Silent_p.R1827R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1827					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGGTGAGCCGCGCGGGGA	0.597000													58	71					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74057633	74057633	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:74057633C>T	ENST00000307877.2	-	5	745	c.584G>A	c.(583-585)gGa>gAa	p.G195E	SRP68_ENST00000539137.1_Missense_Mutation_p.G157E|SRP68_ENST00000355113.5_Missense_Mutation_p.G94E	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	195					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ACGTAGCATTCCTGAGAGGTA	0.433000													37	45					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111095577	111095577	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:111095577C>T	ENST00000262839.2	-	5	2244	c.1326G>A	c.(1324-1326)atG>atA	p.M442I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	442					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGAGGGAGTTCATTGCAAAAT	0.423000													63	79					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57918242	57918242	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:57918242C>T	ENST00000564448.1	-	33	3624	c.3564G>A	c.(3562-3564)ggG>ggA	p.G1188G	CNGB1_ENST00000251102.8_Silent_p.G1194G			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1194					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCGGTGGAGACCCCGGGGGCT	0.731000													15	29					0	0	1	0	0
SHOX	6473	broad.mit.edu	37	X	601614	601614	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:601614G>A	ENST00000381578.1	+	4	1235		c.e4+1		SHOX_ENST00000334060.3_Splice_Site|SHOX_ENST00000554971.1_Splice_Site|SHOX_ENST00000381575.1_Splice_Site	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox						skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGCATAAAGGTGGGTGTCGG	0.587000													74	90					0	0	1	0	0
RBM11	54033	broad.mit.edu	37	21	15599306	15599306	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:15599306C>T	ENST00000400577.3	+	5	547	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	180							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TGTTCCAGATCTTGAGGCTGG	0.458000													127	233					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368906	22368906	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:22368906G>A	ENST00000332663.2	+	1	429	c.331G>A	c.(331-333)Gag>Aag	p.E111K	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGGGCTTCGGAGATGTTCTT	0.468000													94	615					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31803215	31803215	+	Translation_Start_Site	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr18:31803215C>T	ENST00000261592.5	-	1	300	c.3G>A	c.(1-3)atG>atA	p.M1I	NOL4_ENST00000589544.1_Start_Codon_SNP_p.M1I|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	1						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCTCGCTCTCCATGTTCCCCG	0.612000													57	72					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577124	14577124	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:14577124C>T	ENST00000544627.1	+	2	619	c.299C>T	c.(298-300)cCc>cTc	p.P100L	ATF7IP_ENST00000543189.1_Missense_Mutation_p.P92L|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P92L|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P92L|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P92L			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	92					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AAGGAAACACCCTGTATCCTA	0.363000													29	69					0	0	1	0	0
ICAM2	3384	broad.mit.edu	37	17	62081178	62081178	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:62081178C>T	ENST00000412356.1	-	5	829	c.475G>A	c.(475-477)Gag>Aag	p.E159K	C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.E159K|ICAM2_ENST00000579687.1_Missense_Mutation_p.E159K|ICAM2_ENST00000578892.1_Missense_Mutation_p.E135K|ICAM2_ENST00000578379.1_Missense_Mutation_p.E58K|ICAM2_ENST00000449662.2_Missense_Mutation_p.E159K|ICAM2_ENST00000418105.1_Missense_Mutation_p.E159K	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	159	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	p.E159K(1)		large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						CCGAAGGTCTCATAGTGCAGA	0.617000													60	63					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73450896	73450896	+	Missense_Mutation	SNP	G	G	A	rs144757453		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:73450896G>A	ENST00000252034.7	+	3	544	c.145G>A	c.(145-147)Gga>Aga	p.G49R	ELN_ENST00000380562.4_Missense_Mutation_p.G49R|ELN_ENST00000357036.5_Missense_Mutation_p.G49R|ELN_ENST00000380575.4_Intron|ELN_ENST00000380576.5_Missense_Mutation_p.G49R|ELN_ENST00000414324.1_Intron|ELN_ENST00000358929.4_Missense_Mutation_p.G49R|ELN_ENST00000320399.6_Missense_Mutation_p.G49R|ELN_ENST00000320492.7_Missense_Mutation_p.G49R|ELN_ENST00000380553.4_Missense_Mutation_p.G49R|ELN_ENST00000458204.1_Intron|ELN_ENST00000380584.4_Missense_Mutation_p.G49R|ELN_ENST00000445912.1_Missense_Mutation_p.G49R|ELN_ENST00000429192.1_Missense_Mutation_p.G49R	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	49					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGCTGGTCTCGGAGCCCTTGG	0.582000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						46	78					0	0	1	0	0
MRPS10	55173	broad.mit.edu	37	6	42185546	42185546	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:42185546G>A	ENST00000053468.3	-	1	57	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	14					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			GTACCTGCCAGAGGCGCCGGC	0.612000													29	32					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659621	24659621	+	RNA	SNP	T	T	C	rs116751564	by1000genomes	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr22:24659621T>C	ENST00000414583.2	+	0	3146					NR_003714.1																						CCTGGATGTCTGCGGCCACAC	0.637000													12	22					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56875699	56875699	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:56875699C>T	ENST00000564887.1	+	19	2563	c.1934C>T	c.(1933-1935)cCa>cTa	p.P645L	NUP93_ENST00000308159.5_Missense_Mutation_p.P768L|NUP93_ENST00000542526.1_Missense_Mutation_p.P645L|NUP93_ENST00000569842.1_Missense_Mutation_p.P768L	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	768					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GGGACAAGTCCATCCTCGTCA	0.502000													56	97					0	0	1	0	0
GPR87	53836	broad.mit.edu	37	3	151012994	151012994	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:151012994C>T	ENST00000260843.4	-	3	504	c.40G>A	c.(40-42)Gag>Aag	p.E14K	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	14						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGTGCAGCTCGTTATCTGTA	0.498000													41	76					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74017594	74017594	+	Silent	SNP	A	A	G	rs115673223	by1000genomes	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:74017594A>G	ENST00000301607.3	-	9	1219	c.966T>C	c.(964-966)tgT>tgC	p.C322C	EVPL_ENST00000586740.1_Silent_p.C322C	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	322	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTGGCAGATACACAGGTTCA	0.721000													4	31					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96782876	96782876	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:96782876G>A	ENST00000359933.4	-	21	4248	c.3355C>T	c.(3355-3357)Cat>Tat	p.H1119Y		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1119										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTACCTTTATGGTACAGACTG	0.328000													32	62					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180369256	180369256	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:180369256G>A	ENST00000273654.4	-	15	1971	c.1352C>T	c.(1351-1353)aCc>aTc	p.T451I	CCDC39_ENST00000442201.2_Missense_Mutation_p.T367I			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	367					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TACAGACATGGTTTTCTCAGT	0.289000													4	4					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59323288	59323288	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:59323288C>T	ENST00000348370.4	+	2	700	c.267C>T	c.(265-267)ctC>ctT	p.L89L	RNF111_ENST00000557998.1_Silent_p.L89L|RNF111_ENST00000561186.1_Silent_p.L89L|RNF111_ENST00000559209.1_Silent_p.L89L|RNF111_ENST00000434298.1_Silent_p.L89L	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	89					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AAAAAAGTCTCGTTGTGAGGA	0.413000													32	65					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596737	142596737	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:142596737C>T	ENST00000370503.2	-	2	416	c.333G>A	c.(331-333)gaG>gaA	p.E111E	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	111										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GATCTTTGTCCTCCTTTGAAG	0.468000													78	127					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085738	92085738	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:92085738C>G	ENST00000298047.6	+	1	477	c.460C>G	c.(460-462)Ctg>Gtg	p.L154V	FAT3_ENST00000409404.2_Missense_Mutation_p.L154V|FAT3_ENST00000525166.1_Missense_Mutation_p.L4V|FAT3_ENST00000541502.1_Missense_Mutation_p.L154V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	154	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATGAATGATCTGAGACCTTT	0.398000										TCGA Ovarian(4;0.039)			10	77					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50155938	50155938	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:50155938G>A	ENST00000360565.3	+	7	2416	c.2292G>A	c.(2290-2292)cgG>cgA	p.R764R		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	764	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCTCTTCCCGGGAGAAGGGGT	0.697000													5	6					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39815204	39815204	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:39815204T>G	ENST00000553728.1	+	25	3746	c.3533T>G	c.(3532-3534)tTt>tGt	p.F1178C	CTAGE5_ENST00000280083.3_Missense_Mutation_p.F643C|CTAGE5_ENST00000396158.2_Missense_Mutation_p.F648C|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.F614C|CTAGE5_ENST00000556148.1_Missense_Mutation_p.F568C|CTAGE5_ENST00000396165.4_Missense_Mutation_p.F614C|CTAGE5_ENST00000553352.1_Missense_Mutation_p.F614C|CTAGE5_ENST00000341749.3_Missense_Mutation_p.F631C|CTAGE5_ENST00000557038.1_Missense_Mutation_p.F563C|CTAGE5_ENST00000341502.5_Missense_Mutation_p.F643C|CTAGE5_ENST00000348007.3_Missense_Mutation_p.F600C																							CTCAGAAGTTTTAATATGCCT	0.373000													50	80					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72721450	72721450	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:72721450G>A	ENST00000428206.1	-	4	340	c.327C>T	c.(325-327)tcC>tcT	p.S109S	NSUN5_ENST00000252594.6_Silent_p.S147S|NSUN5_ENST00000310326.8_Silent_p.S147S|NSUN5_ENST00000438747.2_Silent_p.S147S	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	147							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTACATCATCGGAGCAGGTCT	0.537000													32	76					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10971337	10971337	+	Missense_Mutation	SNP	G	G	A	rs149877959	byFrequency	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:10971337G>A	ENST00000298232.7	-	5	387	c.20C>T	c.(19-21)cCg>cTg	p.P7L	TPTE_ENST00000361285.4_Missense_Mutation_p.P7L|TPTE_ENST00000342420.5_Missense_Mutation_p.P7L|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	7					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGGTCAGTCGGATCAGGACT	0.448000													13	54					0	0	1	0	0
GP9	2815	broad.mit.edu	37	3	128780776	128780776	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:128780776C>T	ENST00000307395.4	+	3	416	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	65					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	AGCCTTCAGTCCGTGCCCCCG	0.682000													27	38					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47981665	47981665	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:47981665C>T	ENST00000318711.7	+	34	4222	c.4039C>T	c.(4039-4041)Cgt>Tgt	p.R1347C	DIP2A_ENST00000417564.2_Missense_Mutation_p.R1346C|DIP2A_ENST00000400274.1_Missense_Mutation_p.R1342C	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1346					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TTTTAGGGTTCGTTTGGTAGA	0.458000													69	136					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35010214	35010214	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:35010214A>G	ENST00000231420.6	-	12	1429	c.1229T>C	c.(1228-1230)gTt>gCt	p.V410A		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	410					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GTAGGTCCCAACTTCTTGACT	0.398000													61	92					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433336	104433336	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:104433336C>T	ENST00000361820.3	-	3	1958	c.1358G>A	c.(1357-1359)gGt>gAt	p.G453D		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	453					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GATGGTGGAACCTTTTACTCT	0.493000													77	45					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037687	148037687	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:148037687G>A	ENST00000370460.2	+	11	2591	c.2112G>A	c.(2110-2112)gtG>gtA	p.V704V	AFF2_ENST00000370457.5_Silent_p.V671V|AFF2_ENST00000286437.5_Silent_p.V345V|AFF2_ENST00000342251.3_Silent_p.V671V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	704					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGATTGTGCCAAAGTCTC	0.488000													10	211					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10106293	10106293	+	Splice_Site	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:10106293C>T	ENST00000264828.3	-	16	1619	c.1533_splice	c.e16-1	p.G512_splice		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	512	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTCGGGGACCCTAGAAGAAA	0.488000													14	49					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361225	107361225	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:107361225G>T	ENST00000374779.2	-	1	563	c.470C>A	c.(469-471)gCa>gAa	p.A157E		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TGTTTGTACTGCAGAATTGAC	0.453000													65	45					1.34159e-35	1.37014e-35	1	1	0
RFX6	222546	broad.mit.edu	37	6	117243304	117243304	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:117243304G>A	ENST00000332958.2	+	13	1443	c.1427G>A	c.(1426-1428)aGa>aAa	p.R476K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	476					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTAGAACAGAGAGTTATTAAG	0.383000													25	44					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11123688	11123688	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:11123688G>A	ENST00000358026.2	+	16	2622	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	SMARCA4_ENST00000590574.1_Missense_Mutation_p.E780K|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E780K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E780K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E780K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E780K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E780K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E780K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E780K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	780	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTGGCCGACGAGATGGGCCT	0.577000			"""F, N, Mis"""		NSCLC								35	53					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917742	26917742	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:26917742G>A	ENST00000539517.2	-	5	1264	c.947C>T	c.(946-948)aCc>aTc	p.T316I	NOVA1_ENST00000267422.7_Missense_Mutation_p.T194I|NOVA1_ENST00000465357.2_Missense_Mutation_p.T292I	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	319	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AAGTGCAGAGGTGATGGCCAC	0.502000													32	52					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934829	113934829	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:113934829G>A	ENST00000335953.4	+	2	1187	c.807G>A	c.(805-807)ggG>ggA	p.G269G	ZBTB16_ENST00000392996.2_Silent_p.G269G	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	269					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GAGGGATGGGGGACAAGGTTG	0.622000													20	26					0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30768246	30768246	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr22:30768246C>T	ENST00000405659.1	+	7	2015	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	CCDC157_ENST00000338306.3_Missense_Mutation_p.R436C			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	436										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GGAGAAGGCCCGTGTCGACAG	0.662000													4	10					0	0	1	0	0
PACRG	135138	broad.mit.edu	37	6	163483255	163483255	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:163483255C>T	ENST00000337019.3	+	4	589	c.365C>T	c.(364-366)cCc>cTc	p.P122L	PACRG_ENST00000366889.2_Missense_Mutation_p.P122L|PACRG_ENST00000366888.2_Missense_Mutation_p.P122L	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	122										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ATGACATTTCCCTATGAGTTT	0.428000													40	59					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195507062	195507062	+	Missense_Mutation	SNP	C	C	T	rs74208457		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:195507062C>T	ENST00000463781.3	-	2	11848	c.11389G>A	c.(11389-11391)Gac>Aac	p.D3797N	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D3797N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	580					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGTGTCGGTGACAGGA	0.607000													3	5					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832288	35832288	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:35832288C>T	ENST00000085219.5	+	8	1616	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	CD22_ENST00000270311.6_Missense_Mutation_p.S397F|CD22_ENST00000341773.6_Missense_Mutation_p.S340F|CD22_ENST00000594250.1_Missense_Mutation_p.S340F|CD22_ENST00000544992.2_Missense_Mutation_p.S517F|CD22_ENST00000536635.2_Missense_Mutation_p.S429F|CD22_ENST00000419549.2_Missense_Mutation_p.S345F	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	517	Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AAGCCCCTTTCCGAGATTCAC	0.567000													43	49					0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410797	153410797	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:153410797G>A	ENST00000368725.2	-	2	41	c.42C>T	c.(40-42)atC>atT	p.I14I		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCTAGAGGGATATTCATCT	0.398000													43	44					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266053	100266053	+	RNA	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:100266053G>A	ENST00000510055.1	-	0	707				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ATAACCAGTCGAAAATCCACA	0.488000													56	109					0	0	1	0	0
LACTB2	51110	broad.mit.edu	37	8	71553247	71553247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:71553247G>A	ENST00000276590.4	-	5	667	c.631C>T	c.(631-633)Caa>Taa	p.Q211*	RP11-382J12.1_ENST00000499227.2_Intron|RP11-382J12.1_ENST00000518553.1_Intron|LACTB2_ENST00000517601.1_Intron|LACTB2_ENST00000522447.1_Nonsense_Mutation_p.Q211*	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	211							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ATGTATTGTTGAATTTTAGCT	0.294000													26	34					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389932	77389932	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:77389932C>T	ENST00000282849.5	-	9	1783	c.1365G>A	c.(1363-1365)aaG>aaA	p.K455K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	455	Peptidase M12B.		K -> T (in a colorectal cancer sample; somatic mutation).		proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCCTTCAGCCTTTCTGCAGG	0.433000													46	27					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135764942	135764942	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:135764942G>A	ENST00000250617.6	-	13	2659	c.1454C>T	c.(1453-1455)cCt>cTt	p.P485L	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.P358L|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.P331L|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.P331L	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	485	PH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ACTCATCCGAGGACTTGCAGA	0.373000													48	91					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936668	15936668	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:15936668C>T	ENST00000504595.1	+	4	1330	c.849C>T	c.(847-849)ttC>ttT	p.F283F	FBXL7_ENST00000510662.1_Silent_p.F236F|FBXL7_ENST00000329673.7_Silent_p.F271F	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	283					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CGGACTGCTTCGTGCTGGAGG	0.617000													28	55					0	0	1	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231820	142231820	+	RNA	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:142231820C>T	ENST00000390364.3	-	0	164																											CTTCCTGTCTCTGTGATCTTG	0.507000													80	199					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9943595	9943595	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:9943595G>A	ENST00000506583.1	-	8	886	c.669C>T	c.(667-669)ctC>ctT	p.L223L	SLC2A9_ENST00000264784.3_Silent_p.L252L|SLC2A9_ENST00000309065.3_Silent_p.L223L			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	252					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GGCTGTCCGGGAGAAAGGGAA	0.587000													26	40					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17965132	17965132	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:17965132C>T	ENST00000361221.3	+	20	2278	c.2119C>T	c.(2119-2121)Cac>Tac	p.H707Y	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.H668Y|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.H480Y|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.H702Y|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.H410Y|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.H668Y|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.H465Y	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	707					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GGAAGAGATCCACTCGGCCAA	0.602000													26	23					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39249731	39249731	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:39249731A>C	ENST00000426016.1	-	11	1924	c.1838T>G	c.(1837-1839)cTt>cGt	p.L613R	SOS1_ENST00000395038.2_Missense_Mutation_p.L613R|SOS1_ENST00000402219.2_Missense_Mutation_p.L613R			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	613	N-terminal Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATGGTACGTAAGCCTCTCTAT	0.388000									Noonan syndrome				7	41					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36640801	36640801	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:36640801C>T	ENST00000373448.2	-	3	1656	c.1418G>A	c.(1417-1419)aGg>aAg	p.R473K	TTI1_ENST00000373447.3_Missense_Mutation_p.R473K|TTI1_ENST00000449821.1_Missense_Mutation_p.R473K|TTI1_ENST00000487362.1_5'UTR	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	473							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GAAATATCTCCTCTGGATGCG	0.458000													38	75					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1083068	1083068	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:1083068G>A	ENST00000441003.2	+	16	1995	c.1968G>A	c.(1966-1968)aaG>aaA	p.K656K	MUC2_ENST00000359061.5_Silent_p.K656K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	656						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGCAGACAAGGATGTGGGCT	0.667000													4	9					0	0	1	0	0
SNTA1	6640	broad.mit.edu	37	20	32000486	32000486	+	Silent	SNP	G	G	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:32000486G>C	ENST00000217381.2	-	4	1075	c.804C>G	c.(802-804)gtC>gtG	p.V268V		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	268	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TCAGAGTATTGACCTGGGCTT	0.597000													19	74					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44782132	44782132	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:44782132G>A	ENST00000266534.3	+	8	1349	c.1222G>A	c.(1222-1224)Gga>Aga	p.G408R	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.G304R|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	408						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TGTGTGGTTTGGATTCTTTAT	0.418000													41	89					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	80997169	80997169	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:80997169T>A	ENST00000555265.1	-	22	3317	c.2942A>T	c.(2941-2943)gAt>gTt	p.D981V	CEP128_ENST00000281129.3_Missense_Mutation_p.D981V|CEP128_ENST00000553717.1_5'UTR			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	981						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTCTTTGAAATCTTCTAGTAG	0.383000													7	52					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872194	213872194	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:213872194C>T	ENST00000457361.1	-	8	1639	c.1471G>A	c.(1471-1473)Ggt>Agt	p.G491S	IKZF2_ENST00000342002.2_Missense_Mutation_p.G497S|IKZF2_ENST00000421754.2_Missense_Mutation_p.G417S|IKZF2_ENST00000374319.4_Missense_Mutation_p.G465S|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.G419S|IKZF2_ENST00000374327.4_Missense_Mutation_p.G346S|IKZF2_ENST00000434687.1_Missense_Mutation_p.G491S	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCATGGCAACCCATGTGAATG	0.502000													59	66					0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57137380	57137380	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:57137380C>T	ENST00000263314.2	+	12	1138	c.1104C>T	c.(1102-1104)atC>atT	p.I368I		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	368					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.I368M(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CGCTGAAAATCGCGGCTTTGA	0.547000													25	38					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21730718	21730718	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:21730718C>T	ENST00000584755.1	+	2	417	c.20C>T	c.(19-21)aCc>aTc	p.T7I	UBBP4_ENST00000578713.1_Missense_Mutation_p.T7I|UBBP4_ENST00000583708.1_Missense_Mutation_p.T7I|UBBP4_ENST00000584398.1_Missense_Mutation_p.T7I																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TTCGTGAAAACCCTTACCGGC	0.408000													5	10					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646552	57646552	+	Missense_Mutation	SNP	G	G	A	rs150510557		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:57646552G>A	ENST00000269834.1	-	5	1538	c.1153C>T	c.(1153-1155)Cat>Tat	p.H385Y		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H385Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCCAGTATGGATTTTTTTA	0.393000													82	143					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47562984	47562984	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:47562984T>A	ENST00000273859.3	+	14	2829	c.2560T>A	c.(2560-2562)Tat>Aat	p.Y854N		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	854					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGACACTGAATATGCAGAGTG	0.418000													42	82					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130283929	130283929	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:130283929C>T	ENST00000358511.6	+	3	784	c.753C>T	c.(751-753)ttC>ttT	p.F251F	COL6A6_ENST00000453409.2_Silent_p.F251F	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	251	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen		p.F251L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTAAAGGATTCTTGGAAGAAA	0.428000													56	137					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814337	106814337	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:106814337C>T	ENST00000407775.2	+	8	2277	c.2027C>T	c.(2026-2028)cCc>cTc	p.P676L	ZFPM2_ENST00000520492.1_Missense_Mutation_p.P544L|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P544L|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P407L|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	676					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAGTGTCCCCTTAGTGGAT	0.428000													25	26					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16941139	16941139	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr10:16941139G>A	ENST00000377833.4	-	54	8519	c.8454C>T	c.(8452-8454)tcC>tcT	p.S2818S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2818	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCAGTGAGGGGATCTGATTG	0.403000													11	55					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152476174	152476174	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:152476174G>A	ENST00000367255.5	-	133	24583	c.23982C>T	c.(23980-23982)atC>atT	p.I7994I	SYNE1_ENST00000356820.4_Silent_p.I2518I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Silent_p.I7923I|SYNE1_ENST00000354674.4_Silent_p.I149I|SYNE1_ENST00000341594.5_Silent_p.I7606I|SYNE1_ENST00000265368.4_Silent_p.I7994I|SYNE1_ENST00000539504.1_Silent_p.I149I|SYNE1_ENST00000448038.1_Silent_p.I7923I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7994					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACGTCTCTTCGATTCTGGGGC	0.478000										HNSCC(10;0.0054)			74	119					0	0	1	0	0
ANP32D	23519	broad.mit.edu	37	12	48866542	48866542	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:48866542G>A	ENST00000266594.1	+	1	95	c.95G>A	c.(94-96)gGc>gAc	p.G32D		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	32										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TCAAATGAAGGCAAATTGGAA	0.413000													90	150					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87285838	87285838	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:87285838G>C	ENST00000304053.6	+	2	658	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	NTRK2_ENST00000376213.1_Missense_Mutation_p.E59Q|NTRK2_ENST00000395882.1_Missense_Mutation_p.E59Q|NTRK2_ENST00000376208.1_Missense_Mutation_p.E59Q|NTRK2_ENST00000277120.3_Missense_Mutation_p.E59Q|NTRK2_ENST00000376214.1_Missense_Mutation_p.E59Q|NTRK2_ENST00000323115.4_Missense_Mutation_p.E59Q|NTRK2_ENST00000359847.3_Missense_Mutation_p.E59Q	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	59	LRRNT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TCCGAGATTGGAGCCTAACAG	0.577000										TSP Lung(25;0.17)			26	20					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69972896	69972896	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:69972896C>T	ENST00000305231.7	+	4	1052	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Silent_p.L336L	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	336					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTAACAGGTTCTGTGGAGATT	0.373000													44	83					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54556543	54556543	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:54556543A>C	ENST00000545554.1	+	8	3626	c.3626A>C	c.(3625-3627)cAg>cCg	p.Q1209P	UNC13C_ENST00000260323.11_Missense_Mutation_p.Q1209P|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1207P			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1209	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCGGCCAAACAGAGTGTACTG	0.343000													9	8					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100459201	100459201	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:100459201C>T	ENST00000354161.3	+	11	1656	c.1531C>T	c.(1531-1533)Cac>Tac	p.H511Y	SLC12A9_ENST00000428758.1_Missense_Mutation_p.H511Y|SLC12A9_ENST00000415287.1_Missense_Mutation_p.H422Y|SLC12A9_ENST00000540482.1_Missense_Mutation_p.H511Y|SLC12A9_ENST00000275729.3_Missense_Mutation_p.H422Y	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	511						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTTGCTTTTCCACCAGGTATG	0.652000													41	56					0	0	1	0	0
MT-TV	0	broad.mit.edu	37	MT	1613	1613	+	RNA	SNP	T	T	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrM:1613T>C	ENST00000387342.1	+	0	12																											CCAGAGTGTAGCTTAACACAA	0.438000													101	12					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697466	6697466	+	Silent	SNP	G	G	A	rs138884408	byFrequency	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:6697466G>A	ENST00000245907.6	-	21	2777	c.2685C>T	c.(2683-2685)tcC>tcT	p.S895S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	895					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CATATGGAACGGACAACGAGG	0.567000													36	60					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89872201	89872201	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:89872201G>A	ENST00000268124.5	-	4	1329	c.996C>T	c.(994-996)tcC>tcT	p.S332S	POLG_ENST00000442287.2_Silent_p.S332S	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	332					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CTTTCCTCTGGGACTTCTGGC	0.632000								DNA polymerases (catalytic subunits)					24	44					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93844112	93844112	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:93844112G>A	ENST00000315765.9	+	18	3097	c.3089G>A	c.(3088-3090)gGg>gAg	p.G1030E		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1030	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTCTTTCCTGGGACATTCCAA	0.438000													12	23					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134988616	134988616	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:134988616C>T	ENST00000535938.1	+	7	809	c.642C>T	c.(640-642)gtC>gtT	p.V214V	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.V214V|SAGE1_ENST00000324447.3_Silent_p.V214V	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	214										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGGAAAATGTCCAACCAGCAC	0.448000													87	112					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57054729	57054729	+	Silent	SNP	C	C	T	rs138632748		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:57054729C>T	ENST00000436936.1	+	3	330	c.105C>T	c.(103-105)ttC>ttT	p.F35F	NLRC5_ENST00000539144.1_Silent_p.F35F|NLRC5_ENST00000262510.6_Silent_p.F35F|NLRC5_ENST00000308149.7_Silent_p.F35F			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	35					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGAAGTTCTTCCTCCCCAACA	0.557000													35	65					0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	192078232	192078232	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:192078232C>T	ENST00000454309.2	-	2	1120	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	FGF12_ENST00000430714.1_Intron|FGF12_ENST00000264730.3_Missense_Mutation_p.E37K|FGF12_ENST00000450716.1_Missense_Mutation_p.E37K|FGF12_ENST00000445105.1_Missense_Mutation_p.E37K	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	99					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TCGCTGTTTTCGTCCTTGGTC	0.443000													25	49					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41519349	41519349	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:41519349G>A	ENST00000396942.1	-	41	5672	c.5589C>T	c.(5587-5589)gtC>gtT	p.V1863V	ANK1_ENST00000522231.1_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000457297.1_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000265709.8_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000522543.1_Silent_p.V138V|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000289734.7_Intron|ANK1_ENST00000347528.4_Silent_p.V1863V|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000314214.8_Intron			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1863	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AATCAATATCGACCTCCAGCT	0.622000													47	94					0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49897295	49897295	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:49897295G>A	ENST00000477224.1	-	11	1440	c.962C>T	c.(961-963)aCc>aTc	p.T321I	CAMKV_ENST00000463537.1_Intron|CAMKV_ENST00000296471.7_Missense_Mutation_p.T293I|CAMKV_ENST00000488336.1_Missense_Mutation_p.T321I|CAMKV_ENST00000467248.1_Missense_Mutation_p.T246I|CAMKV_ENST00000466940.1_Missense_Mutation_p.T278I			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	321						cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTTCATGAGGGTGGTCACTCG	0.622000													23	49					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723372	58723372	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:58723372C>T	ENST00000300079.5	+	7	924	c.874C>T	c.(874-876)Cca>Tca	p.P292S	GLYATL1_ENST00000317391.4_Missense_Mutation_p.P261S|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	261						mitochondrion	glycine N-acyltransferase activity	p.P261S(1)|p.P292S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GAAGAATATTCCATTTTACAT	0.458000													35	66					0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782525	134782525	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:134782525C>T	ENST00000503143.2	-	1	513	c.274G>A	c.(274-276)Gga>Aga	p.G92R	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	92						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGCAGAGTCCCCTGTGGAGG	0.597000													33	90					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518470	113518470	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:113518470C>T	ENST00000284601.3	-	4	2745	c.2677G>A	c.(2677-2679)Gac>Aac	p.D893N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	893					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCATCCGAGTCTGTTTTCTTT	0.368000													46	81					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340634	121340634	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:121340634C>T	ENST00000338040.4	+	3	772	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	120					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAAAGAGACCCCCAGTGAGGA	0.542000													25	46					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362812	36362812	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:36362812G>A	ENST00000221891.4	+	6	916	c.724G>A	c.(724-726)Gac>Aac	p.D242N	APLP1_ENST00000537454.2_Missense_Mutation_p.D203N|APLP1_ENST00000586861.1_Missense_Mutation_p.D236N	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	242	Poly-Glu.				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGGCTGAGGACGAGGAAGA	0.632000													79	114					0	0	1	0	0
TSSC1	7260	broad.mit.edu	37	2	3197843	3197843	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:3197843C>T	ENST00000398659.4	-	8	969	c.829G>A	c.(829-831)Gac>Aac	p.D277N	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.D250N			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	250							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		ACCTTACAGTCGTCTCCGCAG	0.572000													12	67					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156908007	156908007	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:156908007G>A	ENST00000257527.4	-	23	2785	c.2707C>T	c.(2707-2709)Cca>Tca	p.P903S	ADAM19_ENST00000394020.1_Missense_Mutation_p.P905S|ADAM19_ENST00000430702.2_Intron	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	0					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTATTCTGGAAACTGGGAA	0.502000													17	27					0	0	1	0	0
C19orf52	90580	broad.mit.edu	37	19	11040197	11040197	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:11040197C>T	ENST00000270502.6	+	2	692	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_138358.2	NP_612367.1	Q9BSF4	CS052_HUMAN	chromosome 19 open reading frame 52	201										prostate(1)	1						GTGGTCGGGCCCCAGCAGCTG	0.642000													56	90					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61460130	61460130	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:61460130G>A	ENST00000343916.3	+	18	918	c.915G>A	c.(913-915)aaG>aaA	p.K305K		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	305	Triple-helical region 3 (COL3).				axon guidance	collagen type IX		p.K305K(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TGCCGGGCAAGGACGGCCAGA	0.697000													11	42					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359453	70359453	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:70359453G>A	ENST00000305107.6	-	2	874	c.828C>T	c.(826-828)ttC>ttT	p.F276F	UGT2B4_ENST00000381096.3_Silent_p.F140F|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.F276F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	276					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GTCCTCCAACGAACTCAACAT	0.413000													78	161					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78325491	78325491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:78325491C>T	ENST00000238561.5	+	4	391	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	ADCK1_ENST00000341211.5_Intron	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	105						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CAAGGTGGGCCAGCACCTGGG	0.617000													105	118					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17464764	17464764	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:17464764G>A	ENST00000302539.4	-	9	1553	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	ABCC8_ENST00000389817.3_Silent_p.F476F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	476	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGTGGCCACGAAGTACTGGA	0.542000													37	52					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1083069	1083069	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:1083069G>T	ENST00000441003.2	+	16	1996	c.1969G>T	c.(1969-1971)Gat>Tat	p.D657Y	MUC2_ENST00000359061.5_Missense_Mutation_p.D657Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	657						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGCAGACAAGGATGTGGGCTC	0.662000													4	9					0.000602214	0.000605367	1	1	0
COL4A4	1286	broad.mit.edu	37	2	227896691	227896691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:227896691G>A	ENST00000396625.3	-	40	3994	c.3787C>T	c.(3787-3789)Cag>Tag	p.Q1263*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.Q1263*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1263	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.Q1263*(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGAGGTCCCTGATCTCCAGGT	0.547000													12	22					0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566602	103566602	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:103566602C>T	ENST00000380069.3	+	1	122	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	16										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCTGCAGAGTCCCAAGGAGGC	0.622000													3	8					0	0	1	0	0
NPIPB4	440345	broad.mit.edu	37	16	21854859	21854859	+	Silent	SNP	G	G	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:21854859G>T	ENST00000415645.2	-	4	432	c.393C>A	c.(391-393)tcC>tcA	p.S131S	NPIPB4_ENST00000357370.5_Silent_p.S131S|NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000451409.1_5'UTR					nuclear pore complex interacting protein family, member B4																		TTCCTCGAAAGGAAGAAACTC	0.428000													53	395					9.59835e-30	9.78522e-30	1	1	0
BICD2	23299	broad.mit.edu	37	9	95481509	95481509	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:95481509C>T	ENST00000356884.6	-	5	1485	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	BICD2_ENST00000375512.3_Missense_Mutation_p.R473H	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	473					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGCCTCATAGCGGCCCTTCTC	0.682000													29	54					0	0	1	0	0
C15orf60	283677	broad.mit.edu	37	15	73848703	73848703	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:73848703G>A	ENST00000331090.6	+	5	635	c.607G>A	c.(607-609)Gga>Aga	p.G203R	C15orf60_ENST00000560581.1_Missense_Mutation_p.G175R	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	203										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						CGCTCCAGACGGAAGGACCTC	0.468000													21	42					0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241404087	241404087	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:241404087T>A	ENST00000264039.2	+	5	1186	c.938T>A	c.(937-939)gTc>gAc	p.V313D		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	313					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GTGGAGAGTGTCATCGGCAGC	0.627000													20	10					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63760013	63760013	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr10:63760013C>T	ENST00000279873.7	+	4	1076	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	222					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACCCTCAGATCCTGTACTGTC	0.483000													17	13					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50701526	50701526	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:50701526G>A	ENST00000361387.2	-	9	1568	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.S284F	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCTGGAGCAGGAGTAGCTGCA	0.667000													75	95					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				74	63					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021087	5021087	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:5021087C>T	ENST00000382545.3	+	2	1650	c.543C>T	c.(541-543)atC>atT	p.I181I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	181					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.I181I(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCATCTCCATCGTCATCTTTT	0.597000													67	84					0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036100	60036100	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr18:60036100C>T	ENST00000586569.1	+	9	988	c.950C>T	c.(949-951)cCc>cTc	p.P317L	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	317					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GGAGGTGGTCCCTACGCACAA	0.507000													71	113					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11162096	11162096	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:11162096T>C	ENST00000380718.1	-	11	3052	c.2180A>G	c.(2179-2181)aAc>aGc	p.N727S	ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000303025.6_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000534860.1_Intron	NM_006125.2	NP_006116.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	946					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAGGCTCCAGTTACCTTTCCC	0.562000											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	180	263					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41076895	41076895	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:41076895G>A	ENST00000373198.3	-	9	1760	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	PTPRT_ENST00000373190.1_Missense_Mutation_p.P509S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P509S|PTPRT_ENST00000373184.1_Missense_Mutation_p.P509S|PTPRT_ENST00000356100.2_Missense_Mutation_p.P509S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P509S|PTPRT_ENST00000373187.1_Missense_Mutation_p.P509S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	509	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTCTCATTGGGAGGTTTCCAC	0.478000													161	183					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48736873	48736873	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:48736873G>A	ENST00000544117.2	-	6	1908	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	ZNF641_ENST00000547026.1_Silent_p.F386F|ZNF641_ENST00000448928.3_Silent_p.F377F|ZNF641_ENST00000301042.3_Silent_p.F400F			Q96N77	ZN641_HUMAN	zinc finger protein 641	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GAGGGCACTGGAAGGGCTTCT	0.587000													72	110					0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74738490	74738490	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:74738490C>A	ENST00000567435.1	-	11	1547	c.1084G>T	c.(1084-1086)Gcc>Tcc	p.A362S	UBL7_ENST00000565335.1_Missense_Mutation_p.A362S|UBL7_ENST00000361351.4_Missense_Mutation_p.A362S|UBL7_ENST00000564488.1_Missense_Mutation_p.A362S|UBL7_ENST00000395081.2_Missense_Mutation_p.A362S			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	362	UBA.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CCACCGGTGGCCTGCAGGGCC	0.627000													38	76					1.00001e-27	1.01767e-27	1	1	0
LTBP3	4054	broad.mit.edu	37	11	65319531	65319531	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:65319531G>A	ENST00000301873.5	-	8	1711	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	LTBP3_ENST00000322147.4_Silent_p.F481F|LTBP3_ENST00000536982.1_Silent_p.F107F	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	481						extracellular region	calcium ion binding|growth factor binding	p.F481L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CAGGGTGCAGGAAAAGGGAAA	0.602000											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	91	107					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73450897	73450897	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:73450897G>A	ENST00000252034.7	+	3	545	c.146G>A	c.(145-147)gGa>gAa	p.G49E	ELN_ENST00000380562.4_Missense_Mutation_p.G49E|ELN_ENST00000357036.5_Missense_Mutation_p.G49E|ELN_ENST00000380575.4_Intron|ELN_ENST00000380576.5_Missense_Mutation_p.G49E|ELN_ENST00000414324.1_Intron|ELN_ENST00000358929.4_Missense_Mutation_p.G49E|ELN_ENST00000320399.6_Missense_Mutation_p.G49E|ELN_ENST00000320492.7_Missense_Mutation_p.G49E|ELN_ENST00000380553.4_Missense_Mutation_p.G49E|ELN_ENST00000458204.1_Intron|ELN_ENST00000380584.4_Missense_Mutation_p.G49E|ELN_ENST00000445912.1_Missense_Mutation_p.G49E|ELN_ENST00000429192.1_Missense_Mutation_p.G49E	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	49					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GCTGGTCTCGGAGCCCTTGGA	0.582000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						45	77					0	0	1	0	0
MSMP	692094	broad.mit.edu	37	9	35754072	35754072	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:35754072C>T	ENST00000436428.2	-	1	194	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	MSMP_ENST00000414286.1_Intron|RGP1_ENST00000378078.4_3'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	19						extracellular region				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						CAGATGATCCCCCAGCCTCCT	0.567000													283	43					0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151257701	151257701	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:151257701G>A	ENST00000287878.4	-	15	2091	c.1587C>T	c.(1585-1587)gtC>gtT	p.V529V	PRKAG2_ENST00000492843.1_Silent_p.V405V|PRKAG2_ENST00000433631.2_Silent_p.V404V|PRKAG2_ENST00000418337.2_Silent_p.V288V|PRKAG2_ENST00000392801.2_Silent_p.V485V	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	529	CBS 4.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CCAGCCGATGGACCTGCAAAG	0.398000													43	119					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747715	143747715	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:143747715C>T	ENST00000408906.2	+	1	255	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCGTATGCTTCCAACAATGTC	0.468000													75	181					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741753	140741753	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:140741753C>T	ENST00000522605.1	+	1	2051	c.2051C>T	c.(2050-2052)cCc>cTc	p.P684L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCTGACCCCCAGGCAAAA	0.607000													61	98					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331516	28331516	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:28331516C>T	ENST00000341901.4	+	4	1338	c.549C>T	c.(547-549)ttC>ttT	p.F183F		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	183	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TGCTGCTGTTCGACCGCGAGT	0.692000													14	24					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811992	156811992	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:156811992C>A	ENST00000368195.3	-	19	3705	c.3309G>T	c.(3307-3309)atG>atT	p.M1103I	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1103	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAAGGTAGGCCATGCCGTCTG	0.572000													23	23					3.5997e-14	3.64398e-14	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48618755	48618755	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:48618755C>T	ENST00000328333.8	-	51	4944	c.4837G>A	c.(4837-4839)Gga>Aga	p.G1613R	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1613R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1613	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCTTCTCTCCAGGAGGCCCT	0.652000													33	47					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107414084	107414084	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:107414084C>T	ENST00000394872.2	-	34	3575	c.3344G>A	c.(3343-3345)gGa>gAa	p.G1115E	COL4A6_ENST00000538570.1_Missense_Mutation_p.G1114E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1115E|COL4A6_ENST00000334504.7_Missense_Mutation_p.G1114E|COL4A6_ENST00000545689.1_Missense_Mutation_p.G1114E			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1115	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACCAACTTTTCCATCTTCACC	0.423000									Alport syndrome with Diffuse Leiomyomatosis				61	105					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54040620	54040620	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr10:54040620C>T	ENST00000373980.4	+	13	1892	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.S465F|PRKG1_ENST00000373975.2_Missense_Mutation_p.S195F|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000401604.2_Missense_Mutation_p.S477F	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	477	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TATCTGCATTCCAAAGGAATC	0.428000													67	36					0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72541039	72541039	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:72541039C>T	ENST00000330793.1	-	2	469	c.109G>A	c.(109-111)Gga>Aga	p.G37R		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	37	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CTCAGGGATCCCCCCACGGGG	0.547000													37	53					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72128137	72128137	+	Silent	SNP	C	C	T	rs146671503	byFrequency	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:72128137C>T	ENST00000555818.1	+	7	2556	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F	SIPA1L1_ENST00000358550.2_Silent_p.F736F|SIPA1L1_ENST00000381232.3_Silent_p.F736F|SIPA1L1_ENST00000537413.1_Silent_p.F211F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	736	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGCACGTTTTCGTCATCGTCA	0.498000													29	58					0	0	1	0	0
SENP3-EIF4A1	100533955	broad.mit.edu	37	17	7475968	7475968	+	RNA	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:7475968C>T	ENST00000579777.1	+	0	1879					NR_037926.1																						CGGGGCGGGCCTTCACCTTGA	0.647000													4	11					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143386	55143386	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:55143386G>A	ENST00000396331.1	+	6	716	c.358_splice	c.e6-1	p.G120_splice	LILRB1_ENST00000396327.3_Splice_Site_p.G120_splice|LILRB1_ENST00000396332.4_Splice_Site_p.G120_splice|LILRB1_ENST00000434867.2_Splice_Site_p.G120_splice|LILRB1_ENST00000396315.1_Splice_Site_p.G120_splice|LILRB1_ENST00000427581.2_Splice_Site_p.G156_splice|LILRB1_ENST00000418536.2_Splice_Site_p.G120_splice|LILRB1_ENST00000396321.2_Splice_Site_p.G120_splice|LILRB1_ENST00000448689.1_Splice_Site_p.G120_splice|LILRB1_ENST00000396317.1_Splice_Site_p.G120_splice|LILRB1_ENST00000324602.7_Splice_Site_p.G120_splice	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	120	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCTCTCCTAGGAGCCTACATC	0.607000										HNSCC(37;0.09)			62	98					0	0	1	0	0
CMTM8	152189	broad.mit.edu	37	3	32399018	32399018	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:32399018C>T	ENST00000307526.3	+	2	595	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	101	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CAGGATTCCCCAGGTGCCCTG	0.502000													47	75					0	0	1	0	0
TBX2	6909	broad.mit.edu	37	17	59480532	59480532	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:59480532C>T	ENST00000240328.3	+	3	1055	c.774C>T	c.(772-774)acC>acT	p.T258T	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	258					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	p.T248T(1)		endometrium(1)|lung(7)|ovary(1)	9						TCCCGGAGACCGACTTCATCG	0.622000													42	106					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997444	66997444	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:66997444G>A	ENST00000303334.4	+	3	409	c.338G>A	c.(337-339)gGa>gAa	p.G113E	CES3_ENST00000394037.1_Missense_Mutation_p.G113E	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	113						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GTCCTCAACGGAAAACAGCAG	0.602000													30	60					0	0	1	0	0
IFIT3	3437	broad.mit.edu	37	10	91099144	91099144	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr10:91099144C>T	ENST00000371818.4	+	2	912	c.732C>T	c.(730-732)ctC>ctT	p.L244L	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Silent_p.L244L	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	244					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CAGATGTCCTCCGCAGTGCAG	0.443000													30	22					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35425626	35425626	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:35425626C>T	ENST00000287272.2	+	3	353	c.333C>T	c.(331-333)gtC>gtT	p.V111V	UNC5D_ENST00000453357.2_Silent_p.V106V|UNC5D_ENST00000416672.1_Silent_p.V111V|UNC5D_ENST00000420357.1_Silent_p.V111V|UNC5D_ENST00000404895.2_Silent_p.V111V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	111	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTTTGAAGGTCCGCGAAGTGT	0.473000													94	214					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17596615	17596615	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:17596615C>T	ENST00000377813.1	-	22	4210	c.3907G>A	c.(3907-3909)Gat>Aat	p.D1303N	RRBP1_ENST00000468428.1_5'UTR|RRBP1_ENST00000360807.4_Missense_Mutation_p.D870N|RRBP1_ENST00000455029.2_Missense_Mutation_p.D644N|RRBP1_ENST00000377807.2_Missense_Mutation_p.D870N|RRBP1_ENST00000246043.4_Missense_Mutation_p.D1303N			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1303					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GTCTGCTCATCCTCCAGGATG	0.647000													37	42					0	0	1	0	0
STAC3	246329	broad.mit.edu	37	12	57641969	57641969	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:57641969G>A	ENST00000332782.2	-	5	646	c.445C>T	c.(445-447)Cat>Tat	p.H149Y	STAC3_ENST00000546246.2_5'UTR|STAC3_ENST00000554578.1_Missense_Mutation_p.H110Y	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	149					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TAGGCCCGATGGAAACCAGGT	0.507000													50	92					0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5009643	5009643	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:5009643G>A	ENST00000250076.3	-	5	1465	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	ZNF232_ENST00000575898.1_Missense_Mutation_p.P262S|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	244					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TCCGCTTTGGGATTTCTCTGC	0.478000													55	115					0	0	1	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045966	26045966	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:26045966C>T	ENST00000540144.1	+	1	328	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	110					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						AGACACCAATCTGTGCGCTAT	0.567000													52	53					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100459200	100459200	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:100459200C>T	ENST00000354161.3	+	11	1655	c.1530C>T	c.(1528-1530)ttC>ttT	p.F510F	SLC12A9_ENST00000428758.1_Silent_p.F510F|SLC12A9_ENST00000415287.1_Silent_p.F421F|SLC12A9_ENST00000540482.1_Silent_p.F510F|SLC12A9_ENST00000275729.3_Silent_p.F421F	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	510						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTTGCTTTTCCACCAGGTAT	0.657000													42	57					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754491	49754491	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:49754491C>T	ENST00000304801.3	-	1	562	c.410G>A	c.(409-411)gGa>gAa	p.G137E		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	137					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AATCTTCTTTCCAGAGGGATC	0.507000													52	87					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136579665	136579665	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:136579665A>C	ENST00000264162.2	-	5	921	c.911T>G	c.(910-912)aTa>aGa	p.I304R	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	304	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTCTTTATTTATGGCTGTAAG	0.368000													12	39					0	0	1	0	0
PSMG2	56984	broad.mit.edu	37	18	12720575	12720575	+	Silent	SNP	T	T	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr18:12720575T>C	ENST00000317615.6	+	5	1156	c.474T>C	c.(472-474)ctT>ctC	p.L158L	PSMG2_ENST00000590217.1_Silent_p.L158L|RP11-973H7.2_ENST00000585331.1_RNA	NM_020232.4|NM_147163.1	NP_064617.2|NP_671692.1	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly chaperone 2	158					proteasome assembly	nucleus	protein binding			lung(1)|prostate(2)|skin(1)	4						TAAAGAGCCTTAACTGGGAAG	0.368000													22	15					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14851467	14851467	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:14851467C>T	ENST00000380881.4	-	7	1785	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	FREM1_ENST00000380880.3_Missense_Mutation_p.E323K|FREM1_ENST00000422223.2_Missense_Mutation_p.E323K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	323					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCATCTTCTTCACAGTCCAGA	0.478000													124	33					0	0	1	0	0
ARX	170302	broad.mit.edu	37	X	25025476	25025476	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:25025476G>A	ENST00000379044.4	-	4	1410	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	400	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						GCGGCCCCGGGAAGGGCAGCC	0.726000													4	12					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32087274	32087274	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:32087274G>A	ENST00000438447.1	+	20	4108	c.3720G>A	c.(3718-3720)ggG>ggA	p.G1240G	PDZD2_ENST00000282493.3_Silent_p.G1240G			O15018	PDZD2_HUMAN	PDZ domain containing 2	1240					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTTCCCCAGGGAAGAAGGGGG	0.567000													57	103					0	0	1	0	0
EPHX3	79852	broad.mit.edu	37	19	15342594	15342594	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:15342594C>T	ENST00000221730.3	-	2	542	c.322G>A	c.(322-324)Gag>Aag	p.E108K	EPHX3_ENST00000602233.1_Missense_Mutation_p.E108K|EPHX3_ENST00000435261.1_Missense_Mutation_p.E108K	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	108						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						TACCAGTTCTCAGGGAAGCCG	0.652000													41	70					0	0	1	0	0
FKBP11	51303	broad.mit.edu	37	12	49319105	49319105	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:49319105C>T	ENST00000550765.1	-	1	505	c.107G>A	c.(106-108)cGg>cAg	p.R36Q	FKBP11_ENST00000453172.2_Missense_Mutation_p.R36Q|ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000552878.1_Missense_Mutation_p.R36Q|AC073610.5_ENST00000537495.1_Intron	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	36					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						TTGGAGGGTCCGGACGGGACT	0.662000													6	15					0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428804	56428804	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:56428804C>T	ENST00000262032.5	+	12	1814	c.1447C>T	c.(1447-1449)Ccc>Tcc	p.P483S	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Missense_Mutation_p.P483S|IKZF4_ENST00000431367.2_Missense_Mutation_p.P381S|IKZF4_ENST00000547791.1_Missense_Mutation_p.P438S			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	483					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCAGCCACCTCCCACCATTGT	0.642000													21	36					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46752028	46752028	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:46752028G>A	ENST00000343304.6	-	4	786	c.501C>T	c.(499-501)ctC>ctT	p.L167L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	167										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TACAGATGGTGAGCTGTCGGA	0.582000													46	59					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39966764	39966764	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:39966764T>G	ENST00000599117.1	+	30	3435	c.3068T>G	c.(3067-3069)gTc>gGc	p.V1023G	SUPT5H_ENST00000432763.2_Missense_Mutation_p.V1023G|SUPT5H_ENST00000359191.6_Missense_Mutation_p.V1019G|SUPT5H_ENST00000402194.2_Missense_Mutation_p.V1019G|SUPT5H_ENST00000598725.1_Missense_Mutation_p.V1023G			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	1023					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGAAGGTTGTCAGCATTTCC	0.587000													33	64					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60989205	60989205	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:60989205C>T	ENST00000252998.1	-	10	1358	c.1202G>A	c.(1201-1203)gGg>gAg	p.G401E		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		TGCCCTGGTCCCCTCATTCTC	0.711000													13	18					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108813892	108813892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:108813892C>T	ENST00000232603.5	-	7	529	c.447G>A	c.(445-447)tgG>tgA	p.W149*	MORC1_ENST00000483760.1_Nonsense_Mutation_p.W149*	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	149					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCTTATTAACCATGAGGGCA	0.294000													20	9					0	0	1	0	0
ZNF32	7580	broad.mit.edu	37	10	44139642	44139642	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr10:44139642G>A	ENST00000395797.1	-	3	866	c.678C>T	c.(676-678)ttC>ttT	p.F226F	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Silent_p.F226F	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CCCTGGTGTGGAAACTCTTCC	0.507000													42	24					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7701538	7701538	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:7701538G>A	ENST00000572933.1	+	54	9754	c.8294G>A	c.(8293-8295)gGc>gAc	p.G2765D	DNAH2_ENST00000389173.2_Missense_Mutation_p.G2765D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2765	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGTATCGGGGGCAGCGGACGC	0.607000													62	105					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40636502	40636502	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:40636502G>A	ENST00000342449.3	-	17	1847	c.1769C>T	c.(1768-1770)cCa>cTa	p.P590L	BRWD1_ENST00000380800.3_Missense_Mutation_p.P590L|BRWD1_ENST00000333229.2_Missense_Mutation_p.P590L	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TACCAAGAATGGTGGAGGCAT	0.408000													31	53					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232705	56232705	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:56232705G>A	ENST00000268912.5	+	1	212	c.191G>A	c.(190-192)cGa>cAa	p.R64Q		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCTGCTCCGAAATCTAGCT	0.493000													109	170					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47985766	47985766	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:47985766C>T	ENST00000318711.7	+	36	4491	c.4308C>T	c.(4306-4308)ttC>ttT	p.F1436F	DIP2A_ENST00000417564.2_Silent_p.F1435F|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000400274.1_Silent_p.F1431F	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1435					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACCTTGGCTTCCTTCGGCGAA	0.617000													67	102					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24534407	24534407	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:24534407C>T	ENST00000342740.5	+	33	3475	c.3321C>T	c.(3319-3321)tgC>tgT	p.C1107C	LRRC16B_ENST00000334420.7_Silent_p.C203C	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1107										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCTCTCCCTGCTGGAGCCCAG	0.672000													5	9					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31846753	31846753	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:31846753C>T	ENST00000229729.6	-	1	25	c.5G>A	c.(4-6)gGg>gAg	p.G2E	SLC44A4_ENST00000375562.4_Missense_Mutation_p.G2E|SLC44A4_ENST00000465707.1_5'UTR	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	2						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CTGCTTTCCCCCCATGGCTCA	0.687000													38	111					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16242149	16242149	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:16242149G>A	ENST00000339732.5	+	3	1233	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	GALNT15_ENST00000437509.1_Missense_Mutation_p.E244K	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.E244K(1)									TGCTCTCAGCGAATATGTGGC	0.562000													24	41					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8170376	8170376	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:8170376C>T	ENST00000314666.6	+	24	3131	c.2998C>T	c.(2998-3000)Ctg>Ttg	p.L1000L	PFAS_ENST00000545834.1_Silent_p.L576L	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1000					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGCTGTGGTTCTGGAGGAGCC	0.627000													20	31					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185235	56185235	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:56185235G>A	ENST00000312253.1	-	1	473	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TAACGGTGTGGAAGAGGGCAA	0.453000													63	96					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13378310	13378310	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:13378310C>T	ENST00000254508.5	-	27	3743	c.3661G>A	c.(3661-3663)Gac>Aac	p.D1221N	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1221					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCTCGGAGGTCCAGGACGTCC	0.642000													20	46					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120348212	120348212	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:120348212C>T	ENST00000397843.2	+	36	3675	c.3509C>T	c.(3508-3510)tCa>tTa	p.S1170L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.S1151L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.S1067L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1170					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CATGGCATTTCAGTCACTGGT	0.393000			T	MLL	AML								27	39					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718612	42718612	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:42718612G>A	ENST00000230882.4	+	10	1193	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	GHR_ENST00000537449.1_Missense_Mutation_p.E148K|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.E313K	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	335					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTATAAACCCGAATTCCACAG	0.368000													95	185					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153689679	153689679	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:153689679C>T	ENST00000369682.3	+	3	1010	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	279	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGTGGAATTCCCCATCGGCTG	0.647000													64	167					0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18928258	18928258	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:18928258G>A	ENST00000380534.4	-	4	1496	c.1217C>T	c.(1216-1218)aCc>aTc	p.T406I	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.T214I	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	406										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GGTGTAGGTGGTCTGGCTTTC	0.537000													34	57					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815528	43815528	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:43815528G>A	ENST00000382031.1	+	5	2602	c.2571G>A	c.(2569-2571)gaG>gaA	p.E857E	MAP1A_ENST00000300231.5_Silent_p.E619E|MAP1A_ENST00000399453.1_Silent_p.E619E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	619						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGAGGAAGAGAAAGATACCT	0.507000													17	21					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74415604	74415604	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:74415604G>A	ENST00000376332.3	-	7	1174	c.678C>T	c.(676-678)atC>atT	p.I226I	CHRDL2_ENST00000263671.5_Silent_p.I226I|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	226					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AGTGGCGAGGGATGAAGCTCA	0.587000													31	46					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73733715	73733715	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:73733715C>T	ENST00000200181.3	+	18	2397	c.2210C>T	c.(2209-2211)gCc>gTc	p.A737V	ITGB4_ENST00000450894.3_Missense_Mutation_p.A737V|ITGB4_ENST00000579662.1_Missense_Mutation_p.A737V|ITGB4_ENST00000449880.2_Missense_Mutation_p.A737V|ITGB4_ENST00000339591.3_Missense_Mutation_p.A737V|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	737					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGTACTGTGCCTGCTGCAAG	0.687000													17	29					0	0	1	0	0
IGHV3-9	28451	broad.mit.edu	37	14	106552703	106552703	+	RNA	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:106552703G>A	ENST00000390600.2	-	0	106																											TAGCCAAAAGGAAAATCCAGC	0.478000													67	131					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272421	164272421	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:164272421G>A	ENST00000515560.1	+	4	2518	c.996G>A	c.(994-996)ggG>ggA	p.G332G	NPY5R_ENST00000338566.3_Silent_p.G332G|NPY5R_ENST00000506953.1_Silent_p.G332G			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	332					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TCATACCAGGGGTCCCCACTT	0.398000													25	48					0	0	1	0	0
H1FOO	132243	broad.mit.edu	37	3	129267901	129267901	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:129267901C>T	ENST00000324382.2	+	3	441	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	H1FOO_ENST00000503977.1_Missense_Mutation_p.P7S	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	146					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CGCGACGGCTCCCAGGAGAGC	0.607000													13	31					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591547	125591547	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:125591547G>A	ENST00000504087.1	-	4	3922	c.2885C>T	c.(2884-2886)gCc>gTc	p.A962V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A783V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	962										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAAATATTCGGCCATTGTAAG	0.418000													38	60					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240969496	240969496	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:240969496C>T	ENST00000366565.1	-	15	1594	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N	RGS7_ENST00000366562.4_Missense_Mutation_p.D405N|RGS7_ENST00000366564.1_Missense_Mutation_p.D405N|RGS7_ENST00000407727.1_Missense_Mutation_p.D405N|RGS7_ENST00000401882.1_Missense_Mutation_p.D352N|RGS7_ENST00000348120.2_Missense_Mutation_p.D352N|RGS7_ENST00000446183.2_Missense_Mutation_p.D321N|RGS7_ENST00000331110.7_Missense_Mutation_p.D379N|RGS7_ENST00000366563.1_Missense_Mutation_p.D405N	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	405	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTGGTTTTGTCATAACTCTTG	0.483000													69	75					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151239359	151239359	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:151239359G>A	ENST00000274576.4	-	4	755	c.463C>T	c.(463-465)Ctc>Ttc	p.L155F	GLRA1_ENST00000455880.2_Missense_Mutation_p.L155F|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.L72F	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	155					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGCTGTAGAGGACATTCCCA	0.522000													44	62					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25458673	25458673	+	RNA	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:25458673C>T	ENST00000424208.1	+	0	2630				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						CAGCCAGTTTCCCAGCCCCTG	0.577000													14	24					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11001317	11001317	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:11001317C>T	ENST00000324288.8	+	11	2101	c.1968C>T	c.(1966-1968)gcC>gcT	p.A656A	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	656	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCCCCGGGGCCCTGGCAGAGC	0.687000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								17	59					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22846707	22846707	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:22846707A>T	ENST00000404138.1	+	15	3498	c.2987A>T	c.(2986-2988)cAc>cTc	p.H996L	ZBTB40_ENST00000375647.4_Missense_Mutation_p.H996L|ZBTB40_ENST00000374651.4_Missense_Mutation_p.H884L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	996					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTGGAGCGGCACGTGGTGACC	0.622000													43	56					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934830	113934830	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:113934830G>A	ENST00000335953.4	+	2	1188	c.808G>A	c.(808-810)Gac>Aac	p.D270N	ZBTB16_ENST00000392996.2_Missense_Mutation_p.D270N	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	270					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGGGATGGGGGACAAGGTTGA	0.622000													21	27					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12428572	12428572	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:12428572G>A	ENST00000358136.3	+	53	10628	c.10498G>A	c.(10498-10500)Gga>Aga	p.G3500R	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.G3475R	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3499					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TACTCTCCGAGGAGCTACGTA	0.433000													58	60					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123458	99123458	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:99123458G>A	ENST00000394170.2	+	6	1046	c.795G>A	c.(793-795)atG>atA	p.M265I	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.M265I|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.M265I	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	265	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGGACAATATGGAGCTCATAG	0.423000													61	114					0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41160558	41160558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:41160558C>T	ENST00000483722.1	-	4	1052	c.867G>A	c.(865-867)tgG>tgA	p.W289*		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	289					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCTCTTCTTCCAAAACCCAT	0.562000													16	21					0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12815748	12815748	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:12815748G>A	ENST00000288048.5	+	2	426	c.210G>A	c.(208-210)ggG>ggA	p.G70G	C1orf158_ENST00000376210.3_Intron	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	70										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGTATGGGAAGAGGAAAG	0.522000													22	28					0	0	1	0	0
MIR4485	100616263	broad.mit.edu	37	MT	2233	2233	+	RNA	SNP	T	T	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrM:2233T>C	ENST00000387347.2	+	0	563					NR_039705.1																						CTACCTAAAAAATCCCAAACA	0.368000													49	68					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201434636	201434636	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:201434636C>T	ENST00000409203.3	+	6	812	c.724C>T	c.(724-726)Cat>Tat	p.H242Y	SGOL2_ENST00000357799.4_Intron			Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	0					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTTAAAAATTCATTTTGAGTA	0.294000													9	30					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15166846	15166846	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:15166846G>A	ENST00000427043.3	+	7	983	c.675G>A	c.(673-675)agG>agA	p.R225R	CASP14_ENST00000221740.1_Silent_p.R225R	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	225					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GAAAAGCAAGGAAAACGAACC	0.512000													15	27					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89872202	89872202	+	Missense_Mutation	SNP	G	G	A	rs35954915		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:89872202G>A	ENST00000268124.5	-	4	1328	c.995C>T	c.(994-996)tCc>tTc	p.S332F	POLG_ENST00000442287.2_Missense_Mutation_p.S332F	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	332					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTTCCTCTGGGACTTCTGGCC	0.627000								DNA polymerases (catalytic subunits)					25	43					0	0	1	0	0
PLP2	5355	broad.mit.edu	37	X	49028420	49028420	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:49028420G>A	ENST00000376327.5	+	1	148	c.73G>A	c.(73-75)Gga>Aga	p.G25R	PLP2_ENST00000376322.3_Missense_Mutation_p.G25R	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	25	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CACTCGAAAGGGAATCCTCCT	0.647000													9	30					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13378311	13378311	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:13378311C>T	ENST00000254508.5	-	27	3742	c.3660G>A	c.(3658-3660)ctG>ctA	p.L1220L	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1220					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTCGGAGGTCCAGGACGTCCC	0.642000													20	47					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216990	4216990	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:4216990C>T	ENST00000600132.1	+	18	2109	c.1833C>T	c.(1831-1833)acC>acT	p.T611T	ANKRD24_ENST00000262970.5_Silent_p.T701T|ANKRD24_ENST00000318934.4_Silent_p.T611T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	611										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AAATGGAGACCACAGAAGAAG	0.582000													11	22					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16725319	16725319	+	RNA	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:16725319G>A	ENST00000417510.1	-	0	574																											CTTGAAGTAGGGACTGTAGTC	0.557000													4	103					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28460913	28460913	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:28460913G>A	ENST00000261609.7	-	39	6172	c.6064C>T	c.(6064-6066)Cgg>Tgg	p.R2022W		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2022					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACCAGCTCCGGTGTTGCTCC	0.557000													32	62					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51923258	51923258	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:51923258G>A	ENST00000371117.3	-	16	1650	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	PKHD1_ENST00000340994.4_Missense_Mutation_p.H459Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	459					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCTATCCCATGATGCTCTGCT	0.547000													69	106					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60883209	60883209	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:60883209C>T	ENST00000253003.2	+	8	1035	c.989C>T	c.(988-990)aCc>aTc	p.T330I	LAMA5_ENST00000492698.1_5'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	330					proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			ATCCAGAATACCCTGACCTCG	0.667000													18	28					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643255	37643255	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:37643255G>A	ENST00000356958.4	-	5	1804	c.1546C>T	c.(1546-1548)Cat>Tat	p.H516Y	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.H461Y|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H461Y			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCCCAGTATGGATTCTCTGA	0.403000													37	65					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144733000	144733000	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:144733000G>A	ENST00000501748.2	+	1	1047	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	ZNF623_ENST00000458270.2_Missense_Mutation_p.E280K|ZNF623_ENST00000526926.1_Missense_Mutation_p.E280K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGACCCTTTGAATGCAATGA	0.463000													51	68					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128540108	128540108	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:128540108C>T	ENST00000368227.3	-	6	1193	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	PTPRK_ENST00000532331.1_Missense_Mutation_p.R276Q|PTPRK_ENST00000368226.4_Missense_Mutation_p.R276Q|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.R276Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.R276Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.R276Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.R276Q			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	276	Ig-like C2-type.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACCGGAACCTCGTTCTGACTG	0.398000													71	128					0	0	1	0	0
SUSD3	203328	broad.mit.edu	37	9	95840246	95840246	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:95840246G>A	ENST00000375472.3	+	3	432	c.396G>A	c.(394-396)gtG>gtA	p.V132V	SUSD3_ENST00000375469.1_Silent_p.V119V	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	132						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						TCAAGTGCGTGAAGAAGAGCA	0.607000													60	30					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378951	55378951	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:55378951G>A	ENST00000398661.2	-	6	658	c.527C>T	c.(526-528)tCt>tTt	p.S176F	HMGCLL1_ENST00000308161.4_Missense_Mutation_p.S114F|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.S146F|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.S114F|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	176							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAGGATTCAGATGCAGCTCC	0.343000													29	51					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703786	187703786	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:187703786C>T	ENST00000295131.2	-	4	433	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	132					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TACCCATCTTCTTCAACATGT	0.408000													29	155					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204418	9204418	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:9204418C>T	ENST00000429566.3	+	1	564	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGGCCCGTCTCGTTTTCTGCG	0.577000													106	154					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47572547	47572547	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:47572547G>A	ENST00000253048.5	-	14	2237	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	734							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGTGCTCAGGGAAGAGGTGC	0.677000													15	25					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62688066	62688066	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:62688066G>T	ENST00000280377.5	+	2	254	c.196G>T	c.(196-198)Gat>Tat	p.D66Y	USP15_ENST00000312635.6_Missense_Mutation_p.D66Y|USP15_ENST00000353364.3_Missense_Mutation_p.D66Y|USP15_ENST00000393654.3_Missense_Mutation_p.D66Y|USP15_ENST00000550632.1_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	66	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGGACCCATTGATAACTCTGG	0.363000													37	46					2.6416e-12	2.66941e-12	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129637295	129637295	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:129637295G>A	ENST00000421865.2	+	27	4086	c.4037G>A	c.(4036-4038)gGa>gAa	p.G1346E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1346	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTACTTATGGAAATTTCATG	0.343000													29	63					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49631370	49631370	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:49631370G>A	ENST00000334186.4	+	2	589	c.240_splice	c.e2+1	p.Q80_splice	PPFIA3_ENST00000602351.1_Splice_Site_p.Q80_splice	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	80						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGCTGCCCCAGGTCTGGGCGG	0.736000													4	9					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53190711	53190711	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:53190711C>T	ENST00000566029.1	+	2	919	c.710C>T	c.(709-711)cCt>cTt	p.P237L	CHD9_ENST00000447540.1_Missense_Mutation_p.P237L|CHD9_ENST00000398510.3_Missense_Mutation_p.P237L|CHD9_ENST00000564845.1_Missense_Mutation_p.P237L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	237	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACGTCAAATCCTTCAGCACAC	0.388000													41	82					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6971961	6971961	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr18:6971961A>G	ENST00000389658.3	-	48	6887	c.6794T>C	c.(6793-6795)gTt>gCt	p.V2265A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2265	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAATGAGTAACCTTCACAGC	0.423000													42	53					0	0	1	0	0
RBM11	54033	broad.mit.edu	37	21	15599305	15599305	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:15599305T>G	ENST00000400577.3	+	5	546	c.537T>G	c.(535-537)gaT>gaG	p.D179E	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	179							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		ATGTTCCAGATCTTGAGGCTG	0.458000													126	226					0	0	1	0	0
LINC00482	284185	broad.mit.edu	37	17	79278699	79278699	+	RNA	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:79278699G>A	ENST00000332012.5	-	0	894					NR_038080.1																						CCCATGGCCAGACGGGATTCC	0.672000													9	9					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19135712	19135712	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:19135712A>G	ENST00000601879.1	-	3	1742	c.1445T>C	c.(1444-1446)cTt>cCt	p.L482P	SUGP2_ENST00000337018.6_Missense_Mutation_p.L482P|SUGP2_ENST00000456085.2_Missense_Mutation_p.L251P|SUGP2_ENST00000452918.2_Missense_Mutation_p.L482P|SUGP2_ENST00000600377.1_Missense_Mutation_p.L496P			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	482					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTGTCCCAAAAGGGCCAAAGA	0.522000													4	278					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17367384	17367384	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:17367384G>A	ENST00000252597.3	-	9	1539	c.1366C>T	c.(1366-1368)Ccc>Tcc	p.P456S	USHBP1_ENST00000431146.2_Missense_Mutation_p.P392S	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	456							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TCTGCACGGGGCACAGTGGGC	0.612000													4	174					0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131506272	131506272	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr10:131506272C>T	ENST00000306010.7	+	3	364	c.332C>T	c.(331-333)cCc>cTc	p.P111L	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	111										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GAAGAGTTCCCCGTGCCGGCT	0.582000								Direct reversal of damage					67	35					0	0	1	0	0
PRR22	163154	broad.mit.edu	37	19	5783704	5783704	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:5783704G>A	ENST00000419421.2	-	3	658	c.554C>T	c.(553-555)cCc>cTc	p.P185L		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	183	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGGGGGTGGGGGTGGCAGCGG	0.711000													4	10					0	0	1	0	0
ANKRD49	54851	broad.mit.edu	37	11	94231498	94231498	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:94231498C>T	ENST00000544612.1	+	3	1017	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L174F|ANKRD49_ENST00000544253.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	174					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACAAAAGGCCTCTTGACCCC	0.493000													39	53					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				74	62					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59830066	59830066	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:59830066G>A	ENST00000278865.3	+	3	355	c.282G>A	c.(280-282)tgG>tgA	p.W94*	MS4A3_ENST00000534744.1_Intron|MS4A3_ENST00000358152.2_Intron|MS4A3_ENST00000395032.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	94						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				ACCCGATTTGGGGTGCTGTGT	0.423000													67	118					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659623	24659623	+	RNA	SNP	C	C	T	rs114457979	by1000genomes	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr22:24659623C>T	ENST00000414583.2	+	0	3148					NR_003714.1																						TGGATGTCTGCGGCCACACCG	0.637000													12	26					0	0	1	0	0
MIR7162	102466227	broad.mit.edu	37	15	62538711	62538711	+	RNA	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:62538711G>A	ENST00000570077.1	-	0	505																											TGGTTCAGGTGACTCAAGCCC	0.542000													4	8					0	0	1	0	0
HIST1H2BL	8340	broad.mit.edu	37	6	27775605	27775605	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:27775605C>G	ENST00000377401.2	-	1	104	c.80G>C	c.(79-81)gGc>gCc	p.G27A		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	27					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						GCGCTTCTTGCCATCCTTCTT	0.577000													112	204					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802845	24802845	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:24802845C>T	ENST00000395799.3	+	6	3011	c.2882C>T	c.(2881-2883)gCt>gTt	p.A961V	TNRC6A_ENST00000315183.7_Missense_Mutation_p.A961V	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	961	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATCCCACCAGCTACAGGCAAA	0.532000													25	68					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80381692	80381692	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:80381692C>T	ENST00000265080.4	+	8	1300	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	411	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAAGGAAAAGCCTGGAGTTTG	0.463000													41	78					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758122	141758122	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:141758122C>T	ENST00000475668.2	+	31	3867	c.3813C>T	c.(3811-3813)atC>atT	p.I1271I	MGAM_ENST00000549489.2_Silent_p.I1271I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1271	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGCCCAGATCCCTTATGTAC	0.478000													214	167					0	0	1	0	0
TMEM194A	23306	broad.mit.edu	37	12	57454696	57454696	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:57454696G>A	ENST00000300128.4	-	8	1036	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	TMEM194A_ENST00000379391.3_Missense_Mutation_p.P265L	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	338						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GAGACGAGGGGGAACAGGCTT	0.433000													35	61					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79507977	79507977	+	Splice_Site	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:79507977C>T	ENST00000537152.1	-	9	2587		c.e9-1		C17orf70_ENST00000327787.8_Splice_Site|C17orf70_ENST00000425898.2_Splice_Site	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70						DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCAGCAGTGTCTGCAGGTGAA	0.672000													10	20					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71571178	71571178	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:71571178C>T	ENST00000395275.2	-	4	734	c.346G>A	c.(346-348)Gag>Aag	p.E116K	CALN1_ENST00000329008.5_Missense_Mutation_p.E74K|CALN1_ENST00000431984.1_Missense_Mutation_p.E74K|CALN1_ENST00000405452.2_Missense_Mutation_p.E74K|CALN1_ENST00000395276.2_Missense_Mutation_p.E74K|CALN1_ENST00000412588.1_Missense_Mutation_p.E116K	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	74						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AGCTCCACCTCGCTTGGCATG	0.597000													28	35					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141423004	141423004	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:141423004G>A	ENST00000397541.2	+	6	1357	c.951G>A	c.(949-951)aaG>aaA	p.K317K	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	317	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CAAAACTCAAGGACATCCTTC	0.453000													97	270					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110581824	110581824	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:110581824C>T	ENST00000369795.3	+	4	378	c.356C>T	c.(355-357)aCc>aTc	p.T119I	STRIP1_ENST00000369796.1_Missense_Mutation_p.T24I|STRIP1_ENST00000369794.2_Missense_Mutation_p.T119I	NM_033088.2	NP_149079.2			striatin interacting protein 1																		GAGCTGGATACCAACCAGCAC	0.517000													8	41					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102290680	102290680	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:102290680G>A	ENST00000370103.4	-	4	707	c.494C>T	c.(493-495)aCt>aTt	p.T165I	OLFM3_ENST00000536598.1_Missense_Mutation_p.T90I|OLFM3_ENST00000359814.3_Missense_Mutation_p.T185I|OLFM3_ENST00000338858.5_Missense_Mutation_p.T185I|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	185						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CTGAATACCAGTGAGGACAGC	0.458000													27	30					0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55274424	55274424	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr18:55274424A>T	ENST00000256854.5	-	9	1398	c.943T>A	c.(943-945)Ttt>Att	p.F315I	NARS_ENST00000423481.2_Missense_Mutation_p.F66I	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	315					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	GCAATACAAAAAACATCTCCC	0.448000													63	106					0	0	1	0	0
RBM11	54033	broad.mit.edu	37	21	15599432	15599432	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:15599432C>T	ENST00000400577.3	+	5	673	c.664C>T	c.(664-666)Ctt>Ttt	p.L222F	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	222							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TGTTCCAGATCTTGAGGCTGG	0.433000													12	349					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158256915	158256915	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:158256915C>T	ENST00000296526.7	+	10	1684	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	GRIA2_ENST00000264426.9_Silent_p.I453I|GRIA2_ENST00000449365.1_Silent_p.I406I|GRIA2_ENST00000507898.1_Silent_p.I406I|GRIA2_ENST00000393815.2_Silent_p.I406I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	453					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTGCAGAAATCGCCAAACATT	0.443000													27	30					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35829244	35829244	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:35829244C>T	ENST00000085219.5	+	6	1225	c.1159C>T	c.(1159-1161)Ctc>Ttc	p.L387F	CD22_ENST00000270311.6_Missense_Mutation_p.L267F|CD22_ENST00000341773.6_Intron|CD22_ENST00000594250.1_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.L387F|CD22_ENST00000536635.2_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.L215F	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	387	Ig-like C2-type 3.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCCAAAGATCCTCCCCTGGCA	0.527000													52	82					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5748191	5748191	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:5748191C>G	ENST00000381624.3	+	10	890	c.829C>G	c.(829-831)Cgg>Ggg	p.R277G	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	277						integral to membrane											CGACACCGTCCGGGTGAAAAA	0.542000													15	60					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100433476	100433476	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:100433476G>A	ENST00000375147.3	+	23	2624	c.2368G>A	c.(2368-2370)Gcc>Acc	p.A790T		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	790					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TGCCCTGCAGGCCTAAGGGTC	0.398000													27	16					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085892	92085892	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:92085892C>T	ENST00000298047.6	+	1	631	c.614C>T	c.(613-615)tCa>tTa	p.S205L	FAT3_ENST00000409404.2_Missense_Mutation_p.S205L|FAT3_ENST00000525166.1_Missense_Mutation_p.S55L|FAT3_ENST00000541502.1_Missense_Mutation_p.S205L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	205	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATCTCTTTTCAGTTCACCCC	0.413000										TCGA Ovarian(4;0.039)			9	79					0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155488836	155488836	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:155488836C>T	ENST00000302068.4	+	4	645	c.582C>T	c.(580-582)aaC>aaT	p.N194N	FGB_ENST00000509493.1_5'UTR|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	194					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCCCAACTAACCTTCGTGTGC	0.378000													71	84					0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45699267	45699267	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:45699267C>T	ENST00000322157.4	+	23	2978	c.2741C>T	c.(2740-2742)gCc>gTc	p.A914V	RP11-580I16.2_ENST00000582066.1_RNA|RP11-580I16.2_ENST00000584391.1_RNA|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000544660.1_Missense_Mutation_p.A834V|NPEPPS_ENST00000530173.1_Missense_Mutation_p.A910V	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	914					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CAGCGGAAGGCCTCACCACCC	0.547000													15	27					0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121706025	121706025	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:121706025G>A	ENST00000395601.3	-	3	1109	c.695C>T	c.(694-696)tCg>tTg	p.S232L	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.S232L	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	232	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GAAGGACTGCGATGACGGGGG	0.562000													35	65					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377196	50377196	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:50377196G>A	ENST00000376020.2	-	4	1902	c.1877C>T	c.(1876-1878)cCc>cTc	p.P626L	SHROOM4_ENST00000289292.7_Missense_Mutation_p.P626L|SHROOM4_ENST00000460112.3_Missense_Mutation_p.P510L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	626					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ACTTTCTGGGGGCTCCTGGGT	0.502000													34	49					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2122880	2122880	+	Nonsense_Mutation	SNP	C	C	T	rs45517222		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:2122880C>T	ENST00000219476.3	+	21	2881	c.2251C>T	c.(2251-2253)Cga>Tga	p.R751*	TSC2_ENST00000439673.2_Nonsense_Mutation_p.R714*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.R751*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.R702*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.R751*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.R762*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.R751*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	751					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGAGCGGCTCCGAGGCGCCCC	0.577000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				44	80					0	0	1	0	0
IGFBP6	3489	broad.mit.edu	37	12	53494577	53494577	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:53494577G>A	ENST00000548547.1	+	2	692	c.410G>A	c.(409-411)aGg>aAg	p.R137K	IGFBP6_ENST00000549628.1_3'UTR|IGFBP6_ENST00000301464.3_Missense_Mutation_p.R139K			P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	139					negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GACCAACAGAGGAATCCAGGC	0.587000													106	139					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50906773	50906773	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:50906773C>T	ENST00000440232.2	+	10	1214	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	POLD1_ENST00000599857.1_Silent_p.I387I|POLD1_ENST00000595904.1_Silent_p.I387I	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	387					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCATCCGTATCATGGACCCCG	0.592000								DNA polymerases (catalytic subunits)					87	146					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	22000746	22000746	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:22000746T>C	ENST00000594012.1	-	6	669	c.155A>G	c.(154-156)cAa>cGa	p.Q52R	ZNF43_ENST00000595461.1_Missense_Mutation_p.Q52R|ZNF43_ENST00000598288.1_Missense_Mutation_p.Q52R|ZNF43_ENST00000598381.1_Missense_Mutation_p.Q52R|ZNF43_ENST00000354959.4_Missense_Mutation_p.Q58R	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTCTTTTTCTTGCTCCAGACA	0.413000													93	159					0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11762821	11762821	+	RNA	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:11762821C>T	ENST00000344893.3	+	0	833					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						TCTCCCCAAACCGTTCGAAGA	0.423000													37	64					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616347	140616347	+	RNA	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:140616347G>A	ENST00000526308.1	+	0	2410					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AGACGTGAGCGGCACCGGGAC	0.627000													101	145					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412114	43412114	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:43412114G>A	ENST00000310826.5	-	3	2274	c.2091C>T	c.(2089-2091)ccC>ccT	p.P697P	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398511.3_Silent_p.P697P|ZBTB21_ENST00000398499.1_Silent_p.P697P|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TTACTCCAAGGGGTTTTTCTC	0.433000													137	244					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085709	42085709	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:42085709C>T	ENST00000407170.2	+	4	857	c.44C>T	c.(43-45)tCa>tTa	p.S15L	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S143L|CEACAM21_ENST00000401445.2_Missense_Mutation_p.S143L			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	143						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						TCCACAGAGTCAGTGGCTCAG	0.507000													29	59					0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750451	41750451	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:41750451G>A	ENST00000226382.2	-	1	536	c.177C>T	c.(175-177)tcC>tcT	p.S59S	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	59					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CCGGCGTGAGGGAAGGGCAGC	0.622000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				24	45					0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101727727	101727727	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:101727727C>T	ENST00000318607.5	-	4	1734	c.606G>A	c.(604-606)atG>atA	p.M202I	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.M157I|PABPC1_ENST00000522387.1_Missense_Mutation_p.M170I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	202	CSDE1-binding.|RRM 3.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GCTCATCATCCATGTCTTCTC	0.363000													33	83					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408128	130408128	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:130408128G>A	ENST00000370904.1	-	25	4687	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I	IGSF1_ENST00000370910.1_Silent_p.I1259I|IGSF1_ENST00000361420.3_Silent_p.I1268I|IGSF1_ENST00000370903.3_Silent_p.I1273I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1268					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAACCACCACGATTAGGCTAC	0.522000													111	196					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513417	4513417	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:4513417C>T	ENST00000301286.3	-	3	512	c.513G>A	c.(511-513)ggG>ggA	p.G171G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	171	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCTGTACGGTCCCTTTGGCCA	0.627000													73	111					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583502	179583502	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:179583502G>A	ENST00000589042.1	-	84	24649	c.24425C>T	c.(24424-24426)cCa>cTa	p.P8142L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P7825L|TTN_ENST00000342992.6_Missense_Mutation_p.P6898L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7825	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTTCTAATGGCTGCACCTC	0.463000													17	23					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52398945	52398945	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:52398945C>T	ENST00000420323.2	+	34	5689	c.5428C>T	c.(5428-5430)Ccc>Tcc	p.P1810S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1810					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGACCTGTTTCCCACCATCAA	0.607000													39	69					0	0	1	0	0
LALBA	3906	broad.mit.edu	37	12	48962875	48962875	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:48962875G>A	ENST00000549817.1	-	2	327	c.282C>T	c.(280-282)atC>atT	p.I94I	LALBA_ENST00000301046.2_Silent_p.I94I			P00709	LALBA_HUMAN	lactalbumin, alpha-	94					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						TGTCACAGGAGATGTCACAGA	0.468000													64	119					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739144	38739144	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:38739144G>A	ENST00000449082.2	-	27	5566	c.5567C>T	c.(5566-5568)aCt>aTt	p.T1856I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1856	IQ.				sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTGAATGACAGTGGCTGAAAT	0.483000													58	79					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10934071	10934071	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:10934071G>A	ENST00000298232.7	-	15	1219	c.852C>T	c.(850-852)atC>atT	p.I284I	TPTE_ENST00000361285.4_Silent_p.I302I|TPTE_ENST00000342420.5_Silent_p.I264I|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	302	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I284I(1)|p.I302I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATCAATCATGATTCTAACGA	0.313000													57	303					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122033621	122033621	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:122033621C>T	ENST00000334010.7	-	19	3177	c.2756G>A	c.(2755-2757)gGa>gAa	p.G919E	RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.G915E|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000449022.2_Missense_Mutation_p.G921E|CADPS2_ENST00000412584.2_Missense_Mutation_p.G915E	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	921	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GTGAAATTTTCCATTACACAA	0.398000													37	41					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085963	92085963	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:92085963C>G	ENST00000298047.6	+	1	702	c.685C>G	c.(685-687)Ctg>Gtg	p.L229V	FAT3_ENST00000409404.2_Missense_Mutation_p.L229V|FAT3_ENST00000525166.1_Missense_Mutation_p.L79V|FAT3_ENST00000541502.1_Missense_Mutation_p.L229V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	229	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGGTATGATCTGGAAATTTT	0.388000										TCGA Ovarian(4;0.039)			32	148					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70281853	70281853	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr13:70281853G>A	ENST00000377844.4	-	10	2850	c.2091C>T	c.(2089-2091)ctC>ctT	p.L697L	KLHL1_ENST00000545028.1_Silent_p.L504L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	697					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTCACCAAGGAGACAGACCC	0.433000													41	64					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20868142	20868142	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:20868142G>A	ENST00000381552.1	+	6	967	c.599G>A	c.(598-600)gGa>gAa	p.G200E	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G200E|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G82E|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G200E|SLCO1C1_ENST00000540354.1_Intron			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	200					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CGTGGAATAGGAGAAACTCCC	0.418000													62	137					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974053	64974053	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr10:64974053G>A	ENST00000399262.2	-	8	2092	c.1874C>T	c.(1873-1875)tCt>tTt	p.S625F	JMJD1C_ENST00000402544.1_Missense_Mutation_p.S406F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S406F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S443F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	625					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATTAAGTTTAGATTTTATAGT	0.363000													64	27					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106174289	106174289	+	RNA	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:106174289C>T	ENST00000390547.2	-	0	499																											AGCGCTCTTCCCACTTGAGGG	0.607000													9	13					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650841	55650841	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:55650841C>T	ENST00000339140.3	+	1	1009	c.697C>T	c.(697-699)Ccg>Tcg	p.P233S		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	233					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGGACAGCTCCGGATGGCTG	0.498000													63	78					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307683	140307683	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:140307683C>T	ENST00000253807.2	+	1	1206	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P	PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.P402P|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATGGGCCCCTGGACCGGG	0.527000													34	50					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106174290	106174290	+	RNA	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:106174290C>T	ENST00000390547.2	-	0	498																											GCGCTCTTCCCACTTGAGGGC	0.607000													9	13					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47859514	47859514	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:47859514C>T	ENST00000445061.1	+	4	438	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	DHX30_ENST00000446256.2_5'UTR|DHX30_ENST00000476446.1_3'UTR|DHX30_ENST00000348968.4_5'UTR	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	11						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ttccccagatcgggcccagca	0.607000													126	175					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43307371	43307371	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:43307371G>A	ENST00000361428.2	-	10	4442	c.4365C>T	c.(4363-4365)ccC>ccT	p.P1455P	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1455	Pro-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GTATAACGGGGggtggtggag	0.517000													19	36					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168898	142168898	+	RNA	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:142168898G>A	ENST00000454561.2	-	0	147																											TCCTCCTGGGGAAGAGCCGAG	0.592000													7	28					0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	24003829	24003829	+	Silent	SNP	A	A	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:24003829A>G	ENST00000312521.4	+	5	1198	c.879A>G	c.(877-879)caA>caG	p.Q293Q	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	293					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ACATGGAGCAATATAATTTAA	0.448000													17	31					0	0	1	0	0
AKAP14	158798	broad.mit.edu	37	X	119037548	119037548	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:119037548C>T	ENST00000394594.2	+	4	398	c.260C>T	c.(259-261)tCg>tTg	p.S87L	AKAP14_ENST00000371431.3_Splice_Site_p.S87_splice|AKAP14_ENST00000371425.4_Splice_Site_p.S87_splice|AKAP14_ENST00000334356.2_Splice_Site_p.S87_splice|AKAP14_ENST00000371422.1_Missense_Mutation_p.S87L|AKAP14_ENST00000371423.2_Splice_Site_p.S87_splice	NM_001008535.1	NP_001008535.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	87						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						GAATATTTTTCGGTAAGTTAG	0.413000													32	45					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81593149	81593149	+	Missense_Mutation	SNP	G	G	A	rs146115032		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:81593149G>A	ENST00000548058.1	+	9	2190	c.1280G>A	c.(1279-1281)cGa>cAa	p.R427Q	ACSS3_ENST00000261206.3_Missense_Mutation_p.R426Q|ACSS3_ENST00000548324.1_Missense_Mutation_p.R109Q			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	427						mitochondrion	acetate-CoA ligase activity|ATP binding	p.R427Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCTGGAGAACGATGTGATGTA	0.343000													16	49					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111540140	111540140	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:111540140G>A	ENST00000261486.5	-	15	1584	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	CTC-459M5.2_ENST00000505825.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000506875.1_RNA	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	436						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GCGTGTAAGGGAACTTTGGCG	0.498000													69	143					0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72552558	72552558	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:72552558G>A	ENST00000409314.1	-	19	2237	c.2069C>T	c.(2068-2070)cCc>cTc	p.P690L	FCHSD2_ENST00000311172.7_Missense_Mutation_p.P610L|FCHSD2_ENST00000458644.2_Missense_Mutation_p.P530L|FCHSD2_ENST00000409263.1_Missense_Mutation_p.P27L|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000409418.4_Missense_Mutation_p.P666L			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	666							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GCTGGGGTAGGGGCTGCTGGG	0.587000													11	12					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57458437	57458437	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:57458437C>T	ENST00000374900.4	+	8	1203	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	361						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGTTGTGGATCGCAATGATGT	0.348000										HNSCC(52;0.14)			46	108					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5748189	5748189	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:5748189T>C	ENST00000381624.3	+	10	888	c.827T>C	c.(826-828)gTc>gCc	p.V276A	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	276						integral to membrane											GTCGACACCGTCCGGGTGAAA	0.542000													15	56					0	0	1	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114256921	114256921	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:114256921C>T	ENST00000306507.5	+	1	261	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	30					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						AATCGATGTCCTGGGAgagga	0.642000													8	124					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13222414	13222414	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:13222414G>C	ENST00000319217.7	-	6	812	c.565C>G	c.(565-567)Ctt>Gtt	p.L189V	MPDZ_ENST00000381022.2_Missense_Mutation_p.L189V|MPDZ_ENST00000447879.1_Missense_Mutation_p.L189V|MPDZ_ENST00000381015.4_Missense_Mutation_p.L189V|MPDZ_ENST00000536827.1_Missense_Mutation_p.L189V|MPDZ_ENST00000541718.1_Missense_Mutation_p.L189V|MPDZ_ENST00000546205.1_Missense_Mutation_p.L189V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	189	PDZ 1.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTGATAGCAAGAATTTGATCA	0.413000													192	46					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32491875	32491875	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:32491875G>A	ENST00000281474.5	+	8	2829	c.2726G>A	c.(2725-2727)cGg>cAg	p.R909Q	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	909					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CAAGGGCACCGGCTCAGCAAG	0.463000													64	97					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56092572	56092572	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:56092572G>A	ENST00000257880.7	-	7	1271	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	ITGA7_ENST00000257879.6_Missense_Mutation_p.P307L|ITGA7_ENST00000555728.1_Missense_Mutation_p.P351L|ITGA7_ENST00000394230.2_Missense_Mutation_p.P311L|ITGA7_ENST00000452168.2_Missense_Mutation_p.P214L|ITGA7_ENST00000553804.1_Missense_Mutation_p.P311L|ITGA7_ENST00000394229.2_Missense_Mutation_p.P307L|ITGA7_ENST00000347027.6_Missense_Mutation_p.P307L			Q13683	ITA7_HUMAN	integrin, alpha 7	351					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CATAACCTCGGGCACCAGGCG	0.642000													27	57					0	0	1	0	0
KLHDC9	126823	broad.mit.edu	37	1	161069391	161069391	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:161069391G>A	ENST00000392192.2	+	3	852	c.710G>A	c.(709-711)gGa>gAa	p.G237E	KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000368011.4_Missense_Mutation_p.E231K	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	0										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCCCAAGGAGGAACCACCTGT	0.517000													195	422					0	0	1	0	0
DND1	373863	broad.mit.edu	37	5	140052469	140052469	+	Silent	SNP	T	T	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:140052469T>C	ENST00000542735.1	-	3	208	c.165A>G	c.(163-165)ccA>ccG	p.P55P		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	55					multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACCCAGCTGGCGGCGGGC	0.677000													5	12					0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747582	68747582	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:68747582G>A	ENST00000309106.3	-	1	873	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	292						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACAGTCCCCAGGGACCTGGTG	0.672000													50	88					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34022080	34022080	+	Missense_Mutation	SNP	C	C	T	rs121909350		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:34022080C>T	ENST00000374372.1	-	4	1636	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	GDF5OS_ENST00000374375.1_Missense_Mutation_p.R42C|GDF5_ENST00000374369.3_Missense_Mutation_p.R378Q			P43026	GDF5_HUMAN	growth differentiation factor 5	378			R -> Q (in DPS).		cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCGCCGTTTTCGCCGCTGGCT	0.577000													114	245					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928576	15928576	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:15928576C>T	ENST00000504595.1	+	3	1186	c.705C>T	c.(703-705)tcC>tcT	p.S235S	FBXL7_ENST00000510662.1_Silent_p.S188S|FBXL7_ENST00000329673.7_Silent_p.S223S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	235					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.S235S(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ATGTGGTGTCCCTCTGCCCTA	0.562000													87	88					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100433475	100433475	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:100433475G>A	ENST00000375147.3	+	23	2623	c.2367G>A	c.(2365-2367)caG>caA	p.Q789Q		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	789					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				GTGCCCTGCAGGCCTAAGGGT	0.393000													27	19					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570134	136570134	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:136570134G>A	ENST00000264162.2	-	7	2110	c.2100C>T	c.(2098-2100)atC>atT	p.I700I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	700	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATAGCTAGGGATGCAGGTGT	0.552000													34	29					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101529456	101529456	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:101529456G>A	ENST00000284395.5	+	7	1006	c.604_splice	c.e7-1	p.G202_splice	LRRK1_ENST00000532029.2_Splice_Site_p.G205_splice|LRRK1_ENST00000388948.3_Splice_Site_p.G205_splice			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	205					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCTTTAGGGAATGAAGACA	0.453000													75	97					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110814206	110814206	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:110814206G>A	ENST00000282356.4	+	9	1226		c.e9+1		CAMK4_ENST00000512453.1_Splice_Site	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV						activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CAAGGACTTGGTAAGTGTAAC	0.308000													48	75					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700698	30700698	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:30700698G>A	ENST00000256246.2	-	1	5910	c.5836C>T	c.(5836-5838)Cct>Tct	p.P1946S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1946										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGCCCAATAGGGGAAATTGGT	0.338000													52	69					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31803214	31803214	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr18:31803214C>T	ENST00000261592.5	-	1	301	c.4G>A	c.(4-6)Gag>Aag	p.E2K	NOL4_ENST00000589544.1_Missense_Mutation_p.E2K|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	2						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CGCTCGCTCTCCATGTTCCCC	0.617000													57	73					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152935939	152935939	+	Silent	SNP	G	G	A	rs12856628		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:152935939G>A	ENST00000393831.2	-	11	1508	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	PNCK_ENST00000340888.3_Silent_p.L335L|PNCK_ENST00000447676.2_Silent_p.L418L|PNCK_ENST00000370142.1_Silent_p.L358L|PNCK_ENST00000370145.4_Silent_p.L352L|PNCK_ENST00000370150.1_Silent_p.L335L	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	335						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAGCACGGAGGCCTGAGT	0.682000													15	22					0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97949375	97949375	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:97949375T>C	ENST00000005260.8	-	5	558	c.343A>G	c.(343-345)Atg>Gtg	p.M115V	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	115	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTTACGTTCATATATTTCACG	0.443000													63	83					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157495228	157495228	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:157495228C>T	ENST00000346085.5	+	11	3113	c.3112C>T	c.(3112-3114)Cca>Tca	p.P1038S	ARID1B_ENST00000275248.4_Missense_Mutation_p.P967S|ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1025S|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1025S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1025					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGAAGGCACTCCACAGCCCGA	0.522000													20	69					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178969079	178969079	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:178969079T>A	ENST00000358450.4	-	2	210	c.112A>T	c.(112-114)Aaa>Taa	p.K38*		NM_001077197.1	NP_001070665.1	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	0					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTTTCCTGTTTTTCAGCCAAA	0.418000									Primary Pigmented Nodular Adrenocortical Disease, Familial				21	80					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71610272	71610272	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:71610272G>A	ENST00000355962.4	-	2	180	c.47C>T	c.(46-48)tCa>tTa	p.S16L	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	16					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GTCCAGAATTGAGGGGAGGTT	0.527000													32	21					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8239118	8239118	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:8239118G>A	ENST00000520004.1	-	2	404	c.140C>T	c.(139-141)cCc>cTc	p.P47L	SGK223_ENST00000330777.4_Missense_Mutation_p.P47L			Q86YV5	SG223_HUMAN		47							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCTGGGCTGGGGAGGGCCGGC	0.647000													22	34					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66747232	66747232	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:66747232G>A	ENST00000359742.4	-	24	3364	c.3124C>T	c.(3124-3126)Ctt>Ttt	p.L1042F	GRIP1_ENST00000398016.3_Missense_Mutation_p.L990F|GRIP1_ENST00000286445.7_Missense_Mutation_p.L1027F			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	1042	PDZ 7.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AAGCCACCAAGATCTCCTGGC	0.473000													81	148					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840906	150840906	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:150840906G>A	ENST00000370357.4	+	14	1934	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	563						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					aggagcagcagaagcagcagc	0.552000													35	47					0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127902402	127902402	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:127902402G>A	ENST00000329722.7	+	4	661	c.649G>A	c.(649-651)Gat>Aat	p.D217N		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	217						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AACCTTGGCAGATAATATCAA	0.289000													35	56					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113275929	113275929	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:113275929G>A	ENST00000297405.5	-	61	10045	c.9801C>T	c.(9799-9801)ttC>ttT	p.F3267F	CSMD3_ENST00000352409.3_Silent_p.F3197F|CSMD3_ENST00000455883.2_Silent_p.F3098F|CSMD3_ENST00000343508.3_Silent_p.F3227F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3267	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACAGCAGGGAAGGATAGCT	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			31	44					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390404	197390404	+	Silent	SNP	C	C	T	rs150894028		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:197390404C>T	ENST00000367400.3	+	6	1581	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Silent_p.I482I|CRB1_ENST00000367399.2_Silent_p.I370I|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.I413I|CRB1_ENST00000543483.1_Silent_p.I181I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	482					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGTGTGAAATCGCAACCACAC	0.493000													47	71					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79420928	79420928	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:79420928C>T	ENST00000264895.6	+	61	9609	c.9169C>T	c.(9169-9171)Cca>Tca	p.P3057S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3052	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACCCGCAGGCCCAGATGCCAT	0.532000													59	98					0	0	1	0	0
SPATA22	84690	broad.mit.edu	37	17	3343629	3343629	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:3343629G>A	ENST00000573128.1	-	9	1387	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	SPATA22_ENST00000397168.3_Missense_Mutation_p.R302C|SPATA22_ENST00000572969.1_Missense_Mutation_p.R302C|SPATA22_ENST00000541913.1_Missense_Mutation_p.R286C|SPATA22_ENST00000355380.4_Missense_Mutation_p.R259C|SPATA22_ENST00000268981.5_Missense_Mutation_p.S269L|SPATA22_ENST00000575375.1_Missense_Mutation_p.R302C			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	302										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						GGAAGTTCACGATCCTGTTTT	0.348000													41	69					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18220216	18220216	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:18220216C>T	ENST00000406438.3	+	1	1593	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	371										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CAAACTTTCTCTTTGAAGACT	0.453000													53	83					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39249722	39249722	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:39249722T>C	ENST00000426016.1	-	11	1933	c.1847A>G	c.(1846-1848)cAt>cGt	p.H616R	SOS1_ENST00000395038.2_Missense_Mutation_p.H616R|SOS1_ENST00000402219.2_Missense_Mutation_p.H616R			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	616	N-terminal Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TGCGTACATATGGTACGTAAG	0.368000									Noonan syndrome				7	38					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399257	46399257	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:46399257A>T	ENST00000292301.4	+	2	724	c.239A>T	c.(238-240)tAc>tTc	p.Y80F	CCR2_ENST00000400888.2_Missense_Mutation_p.Y80F|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.Y80F	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	80					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ACTGACATTTACCTGCTCAAC	0.468000													118	179					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527434	23527434	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:23527434A>T	ENST00000296682.3	+	11	2419	c.2237A>T	c.(2236-2238)aAg>aTg	p.K746M		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	746					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACAGGGGAGAAGCCCTATGTC	0.582000										HNSCC(3;0.000094)			68	119					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085769	92085769	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:92085769C>G	ENST00000298047.6	+	1	508	c.491C>G	c.(490-492)tCt>tGt	p.S164C	FAT3_ENST00000409404.2_Missense_Mutation_p.S164C|FAT3_ENST00000525166.1_Missense_Mutation_p.S14C|FAT3_ENST00000541502.1_Missense_Mutation_p.S164C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	164	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAACATACTCTGTTACCATA	0.423000										TCGA Ovarian(4;0.039)			12	82					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93101739	93101739	+	Missense_Mutation	SNP	C	C	T	rs972946	byFrequency	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:93101739C>T	ENST00000359558.2	-	7	730	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	CALCR_ENST00000394441.1_Missense_Mutation_p.R126Q|CALCR_ENST00000421592.1_Missense_Mutation_p.R126Q|CALCR_ENST00000426151.1_Missense_Mutation_p.R126Q|CALCR_ENST00000360249.4_Missense_Mutation_p.R126Q	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	126					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.R126Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GGACCAGGTTCGATTGTTTTC	0.333000													42	62					0	0	1	0	0
EVPLL	645027	broad.mit.edu	37	17	18284933	18284933	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:18284933G>A	ENST00000399134.4	+	4	593	c.235G>A	c.(235-237)Gag>Aag	p.E79K	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	79										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCAGCTGCACGAGCGGGTGAC	0.672000													17	43					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99312301	99312301	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:99312301G>A	ENST00000336374.2	-	8	677	c.675C>T	c.(673-675)gtC>gtT	p.V225V		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	225					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GGAATGGAAAGACTTCTGTAG	0.308000													45	81					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454891	179454891	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:179454891T>A	ENST00000589042.1	-	304	61785	c.61561A>T	c.(61561-61563)Aag>Tag	p.K20521*	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.K18880*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.K17953*|TTN_ENST00000359218.5_Nonsense_Mutation_p.K11581*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.K11648*|TTN_ENST00000460472.2_Nonsense_Mutation_p.K11456*|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18880	Fibronectin type-III 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACCCTCTTTTCTCGGACC	0.443000													12	76					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16267014	16267014	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr22:16267014C>T	ENST00000343518.6	-	9	1486	c.1435G>A	c.(1435-1437)Ggt>Agt	p.G479S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	479										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCATCATCACCATTGTCAGCA	0.423000													57	372					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52908750	52908750	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:52908750G>A	ENST00000252242.4	-	9	2139	c.1749C>T	c.(1747-1749)tcC>tcT	p.S583S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	583	Ser-rich.|Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTCCGGGAGGAGGAGGTGG	0.592000													41	92					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604680	62604680	+	Missense_Mutation	SNP	G	G	A	rs142287079		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:62604680G>A	ENST00000281156.4	-	6	948	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	224	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.R224W(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTGCTTCCCCGAGGGGTGAGA	0.597000													21	25					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84525149	84525149	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:84525149A>G	ENST00000360700.4	+	9	2129	c.1243A>G	c.(1243-1245)Aca>Gca	p.T415A	ZNF711_ENST00000395402.1_Missense_Mutation_p.T377A|ZNF711_ENST00000373165.3_Missense_Mutation_p.T369A|ZNF711_ENST00000276123.3_Missense_Mutation_p.T369A|ZNF711_ENST00000542798.1_Missense_Mutation_p.T211A			Q9Y462	ZN711_HUMAN	zinc finger protein 711	369					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GCAGTGGCAAACAGGTAAATA	0.343000													17	32					0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50941889	50941889	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr22:50941889G>A	ENST00000216080.5	-	14	2148	c.1980C>T	c.(1978-1980)gcC>gcT	p.A660A	LMF2_ENST00000380796.3_Silent_p.A572A|LMF2_ENST00000474879.2_Silent_p.A685A			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	685						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTGTTCGGAGGCAGCTCCGG	0.652000													18	7					0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777866	152777866	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:152777866G>A	ENST00000368768.1	-	2	139	c.89C>T	c.(88-90)cCc>cTc	p.P30L	LCE1C_ENST00000607093.1_Missense_Mutation_p.P30L	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	30	Pro-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			acactttgggggacactttgg	0.657000													105	84					0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164887	85164887	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:85164887C>T	ENST00000448803.2	+	3	1753	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S	ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.S487S|ZSCAN2_ENST00000327179.6_Silent_p.S486S|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Silent_p.S337S|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	487					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GCTGGAGCTCCAACCTCCTCA	0.582000													39	88					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23854206	23854206	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:23854206C>T	ENST00000405093.3	-	35	5278	c.5208G>A	c.(5206-5208)ctG>ctA	p.L1736L	MYH6_ENST00000356287.3_Silent_p.L1736L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1736					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGAGCTGGGTCAGATCCGACT	0.493000													52	67					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592000													4	281					0.00024832	0.000250057	1	1	0
PCDHA10	56139	broad.mit.edu	37	5	140236438	140236438	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:140236438G>A	ENST00000307360.5	+	1	805	c.805G>A	c.(805-807)Gat>Aat	p.D269N	PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.D269N|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGATTCGGATGAAGGAAT	0.378000													50	82					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704247	52704247	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:52704247C>T	ENST00000287727.3	+	4	1330	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	ZFYVE9_ENST00000357206.2_Silent_p.F386F|ZFYVE9_ENST00000371591.1_Silent_p.F386F|ZFYVE9_ENST00000361625.1_Silent_p.F386F	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	386					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CTACAGAATTCCTTAATATGA	0.378000													21	62					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56995394	56995394	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:56995394G>A	ENST00000179765.5	-	21	4116	c.3917C>T	c.(3916-3918)cCg>cTg	p.P1306L	BAZ2A_ENST00000549884.1_Missense_Mutation_p.P1336L|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P1338L|BAZ2A_ENST00000379441.3_Missense_Mutation_p.P1308L			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1338	Pro-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGCAGGGGGCGGTGTGGGGGC	0.567000													44	59					0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4510712	4510712	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:4510712G>A	ENST00000389313.4	+	8	1383	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R295H	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	439	CH.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		GTGATGGGCCGCAAGCCGGAC	0.582000													6	353					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39027517	39027517	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:39027517G>A	ENST00000379907.4	+	10	1042		c.e10+1		ADAM32_ENST00000519315.1_Splice_Site|ADAM32_ENST00000437682.2_Splice_Site	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32						proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGTTGCATTGGTATGTAACTA	0.269000													23	43					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942962	10942962	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:10942962A>T	ENST00000298232.7	-	11	938	c.571T>A	c.(571-573)Ttt>Att	p.F191I	TPTE_ENST00000361285.4_Missense_Mutation_p.F209I|TPTE_ENST00000342420.5_Missense_Mutation_p.F171I|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	209					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTGATGAAACAGATGAAAA	0.323000													17	112					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72721451	72721451	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:72721451G>A	ENST00000428206.1	-	4	339	c.326C>T	c.(325-327)tCc>tTc	p.S109F	NSUN5_ENST00000252594.6_Missense_Mutation_p.S147F|NSUN5_ENST00000310326.8_Missense_Mutation_p.S147F|NSUN5_ENST00000438747.2_Missense_Mutation_p.S147F	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	147							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TACATCATCGGAGCAGGTCTT	0.537000													32	76					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685187	100685187	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:100685187C>T	ENST00000306151.4	+	3	10554	c.10490C>T	c.(10489-10491)tCa>tTa	p.S3497L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3497	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACCAATTCATCTCCTACA	0.522000													192	363					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164639	26164639	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr22:26164639G>A	ENST00000335473.7	+	4	1006	c.756G>A	c.(754-756)gaG>gaA	p.E252E	MYO18B_ENST00000536101.1_Silent_p.E252E|MYO18B_ENST00000407587.2_Silent_p.E252E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	252						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGACCACAGAGCTGAAAGAGG	0.642000													7	3					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21730719	21730719	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:21730719C>T	ENST00000584755.1	+	2	418	c.21C>T	c.(19-21)acC>acT	p.T7T	UBBP4_ENST00000578713.1_Silent_p.T7T|UBBP4_ENST00000583708.1_Silent_p.T7T|UBBP4_ENST00000584398.1_Silent_p.T7T																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TCGTGAAAACCCTTACCGGCA	0.413000													6	10					0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44513320	44513320	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:44513320C>T	ENST00000429154.2	+	4	455	c.227C>T	c.(226-228)tCa>tTa	p.S76L	ZNF230_ENST00000585632.1_Missense_Mutation_p.S76L	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GAAGGAAATTCAGGTAAGAAG	0.428000													37	55					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32910710	32910710	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr13:32910710C>T	ENST00000544455.1	+	11	2445	c.2218C>T	c.(2218-2220)Cca>Tca	p.P740S	BRCA2_ENST00000380152.3_Missense_Mutation_p.P740S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	740	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGCATGTCACCCAGTACAACA	0.378000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			37	49					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73727421	73727421	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:73727421G>A	ENST00000427855.1	+	17	2092	c.1990G>A	c.(1990-1992)Ggg>Agg	p.G664R	PAPLN_ENST00000340738.5_Missense_Mutation_p.G637R|PAPLN_ENST00000555445.1_Missense_Mutation_p.G664R|PAPLN_ENST00000554301.1_Missense_Mutation_p.G664R|PAPLN_ENST00000381166.3_Missense_Mutation_p.G664R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	664						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCTAGGTACGGGTGCTGCCC	0.662000													31	46					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047514	11047514	+	RNA	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:11047514C>T	ENST00000470054.1	-	0	740									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTACAGATTTCATAATTCGTT	0.348000													46	470					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059024	11059024	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:11059024G>A	ENST00000287766.4	+	3	548	c.127G>A	c.(127-129)Gac>Aac	p.D43N	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron|SLC6A1_ENST00000462473.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	43					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	AGACCTCCCCGACCGGGACAC	0.627000													43	78					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49143506	49143506	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:49143506C>T	ENST00000055335.6	+	4	2370	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.S439F|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.S439F|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.S439F|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.S456F	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	785						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					AGCGGTGTGTCCCTCCTGGTG	0.617000													44	67					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9739745	9739745	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:9739745G>A	ENST00000262441.5	+	3	848	c.335G>A	c.(334-336)gGa>gAa	p.G112E	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	112					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCTTCTCCTGGAAATGTCTCT	0.413000													78	140					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1020233	1020233	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:1020233G>A	ENST00000421673.2	-	29	3715	c.3665C>T	c.(3664-3666)cCc>cTc	p.P1222L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1222					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCCGTCATGGGCCAGACTTG	0.657000													19	45					0	0	1	0	0
LALBA	3906	broad.mit.edu	37	12	48962902	48962902	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:48962902G>A	ENST00000549817.1	-	2	300	c.255C>T	c.(253-255)gtC>gtT	p.V85V	LALBA_ENST00000301046.2_Silent_p.V85V			P00709	LALBA_HUMAN	lactalbumin, alpha-	85					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						TTGACTGAGGGACCTGGCTGC	0.468000													53	95					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29230562	29230562	+	RNA	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:29230562C>T	ENST00000441381.1	+	0	79																											TGGACTGTTTCCTGGCTCTAT	0.428000													30	56					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91292603	91292603	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:91292603C>T	ENST00000355112.3	+	3	223	c.105C>T	c.(103-105)ttC>ttT	p.F35F	BLM_ENST00000560509.1_Silent_p.F35F	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	35					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TCAGAGGTTTCACTTTTAAAA	0.294000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				26	42					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138163260	138163260	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:138163260C>T	ENST00000409968.1	+	13	2756	c.2578C>T	c.(2578-2580)Ctt>Ttt	p.L860F	THSD7B_ENST00000272643.3_Missense_Mutation_p.L860F|THSD7B_ENST00000413152.2_Missense_Mutation_p.L829F|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATGCCTCTCCTTGTGCAAGA	0.478000													21	23					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54307284	54307284	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:54307284C>T	ENST00000324134.6	-	6	2675	c.2507G>A	c.(2506-2508)gGa>gAa	p.G836E	NLRP12_ENST00000391775.3_Missense_Mutation_p.G836E|NLRP12_ENST00000351894.4_Missense_Mutation_p.G836E|NLRP12_ENST00000391772.1_Missense_Mutation_p.G837E|NLRP12_ENST00000354278.3_Missense_Mutation_p.G836E|NLRP12_ENST00000345770.5_Missense_Mutation_p.G837E|NLRP12_ENST00000391773.1_Missense_Mutation_p.G837E|NLRP12_ENST00000535162.1_Missense_Mutation_p.G836E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	836					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGTGCATTTCCTGTCAGGTC	0.562000													22	31					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153186550	153186550	+	Splice_Site	SNP	C	C	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:153186550C>A	ENST00000370028.3	-	4	555	c.498_splice	c.e4+1	p.T166_splice	ARHGAP4_ENST00000350060.5_Splice_Site_p.T166_splice|ARHGAP4_ENST00000537206.1_Splice_Site_p.T143_splice|ARHGAP4_ENST00000370016.1_Intron|ARHGAP4_ENST00000393721.1_Splice_Site_p.T166_splice	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	166					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCCTCACCGTCTGGAGCT	0.632000													4	23					0.00909568	0.0091115	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36334400	36334400	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:36334400G>A	ENST00000378910.5	-	17	2307	c.2308C>T	c.(2308-2310)Ccg>Tcg	p.P770S	NPHS1_ENST00000353632.6_Missense_Mutation_p.P770S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	770	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AACATGCCCGGGAGGATGGGA	0.572000													82	129					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559154	1559154	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:1559154C>T	ENST00000381605.4	-	2	327	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R88Q|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R88Q|SIRPB1_ENST00000262929.5_Missense_Mutation_p.R87Q	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	88	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.R88L(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTTGTTACCCGTGGGAAGTG	0.512000													121	19					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223286310	223286310	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:223286310G>A	ENST00000540964.1	-	4	525	c.64C>T	c.(64-66)Cct>Tct	p.P22S	TLR5_ENST00000342210.6_Missense_Mutation_p.P22S			O60602	TLR5_HUMAN	toll-like receptor 5	22					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GAGCAGGAAGGAATTCCAAAC	0.537000													23	50					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11001318	11001318	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:11001318C>T	ENST00000324288.8	+	11	2102	c.1969C>T	c.(1969-1971)Ctg>Ttg	p.L657L	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	657	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCCCGGGGCCCTGGCAGAGCT	0.682000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								16	60					0	0	1	0	0
MMAB	326625	broad.mit.edu	37	12	110009501	110009501	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:110009501G>A	ENST00000545712.2	-	2	542	c.149C>T	c.(148-150)tCg>tTg	p.S50L	MMAB_ENST00000540016.1_Intron|MMAB_ENST00000266839.5_5'UTR	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	50					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGTGTCTTCGAGGAAGGCTG	0.493000													29	36					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4673852	4673852	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:4673852C>T	ENST00000396952.5	+	2	746	c.96C>T	c.(94-96)ttC>ttT	p.F32F	OR51E1_ENST00000530215.1_Silent_p.F32F	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTTGGCCTTCCCATTGTGCT	0.468000													70	127					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884840	24884840	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:24884840C>T	ENST00000382554.3	+	9	4203	c.3885C>T	c.(3883-3885)ttC>ttT	p.F1295F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1295					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTCGCTTCTTCCAGGTTCTGC	0.617000													38	150					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62718764	62718764	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:62718764C>T	ENST00000371153.4	-	8	3035	c.2657G>A	c.(2656-2658)gGa>gAa	p.G886E	KANK4_ENST00000354381.3_Missense_Mutation_p.G258E|KANK4_ENST00000371150.1_Missense_Mutation_p.G242E|KANK4_ENST00000317477.4_Missense_Mutation_p.G24E	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	886										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTTCACATTTCCTTCTCTTAA	0.493000													38	108					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086292	92086292	+	Silent	SNP	C	C	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:92086292C>G	ENST00000298047.6	+	1	1031	c.1014C>G	c.(1012-1014)ccC>ccG	p.P338P	FAT3_ENST00000409404.2_Silent_p.P338P|FAT3_ENST00000525166.1_Silent_p.P188P|FAT3_ENST00000541502.1_Silent_p.P338P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	338	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGCTTTCCCTATGGCTACA	0.448000										TCGA Ovarian(4;0.039)			11	23					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700844	30700844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:30700844C>T	ENST00000256246.2	-	1	5764	c.5690G>A	c.(5689-5691)tGg>tAg	p.W1897*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1897										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCTCTCTTTCCAAACAAGATT	0.343000													62	117					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188183	121188183	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:121188183G>A	ENST00000321339.1	+	1	534	c.525G>A	c.(523-525)ctG>ctA	p.L175L		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	175	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGTCGTTGCTGGAATTGCACG	0.502000													79	148					0	0	1	0	0
ZNF785	146540	broad.mit.edu	37	16	30594016	30594016	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:30594016G>A	ENST00000395216.2	-	3	1242	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Silent_p.I346I	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						AGGAGCGGTGGATCCACCGAT	0.657000													64	92					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463551	25463551	+	RNA	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:25463551G>A	ENST00000424208.1	+	0	2869				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TTCTCCACATGGAGGGTGGTC	0.542000													8	12					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965769	35965769	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:35965769G>A	ENST00000274278.3	-	4	919	c.562C>T	c.(562-564)Cct>Tct	p.P188S	UGT3A1_ENST00000507113.1_Missense_Mutation_p.P154S|UGT3A1_ENST00000333811.4_Missense_Mutation_p.P134S|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P188S	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	188						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAAGGAAGGGAATACTGGA	0.468000													34	77					0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65009010	65009010	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:65009010C>T	ENST00000247207.6	+	1	1825	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	HSPA2_ENST00000394709.1_Silent_p.F481F	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	481					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AGGTTACCTTCGACATTGACG	0.562000													32	66					0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15283043	15283043	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:15283043C>T	ENST00000253693.2	+	15	1989	c.1736C>T	c.(1735-1737)cCa>cTa	p.P579L		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	579	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						GTGCAGTGTCCACAGGGGGGT	0.428000													43	63					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863082	23863082	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:23863082G>A	ENST00000405093.3	-	22	2791	c.2721C>T	c.(2719-2721)tgC>tgT	p.C907C	MYH6_ENST00000356287.3_Silent_p.C907C	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	907					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCAGCTGGTCGCAGCGCTCCT	0.502000													52	63					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46393294	46393294	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:46393294T>G	ENST00000454345.1	+	10	1489	c.1364T>G	c.(1363-1365)tTc>tGc	p.F455C	DGKZ_ENST00000318201.8_Missense_Mutation_p.F244C|DGKZ_ENST00000395574.3_Missense_Mutation_p.F233C|DGKZ_ENST00000528615.1_Missense_Mutation_p.F45C|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Missense_Mutation_p.F267C|DGKZ_ENST00000456247.2_Missense_Mutation_p.F266C|DGKZ_ENST00000532868.2_Missense_Mutation_p.F271C|DGKZ_ENST00000343674.6_Missense_Mutation_p.F283C|DGKZ_ENST00000421244.2_Missense_Mutation_p.F267C	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	455	MARCKS homology.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGGGCATCCTTCAAGAGGAAG	0.592000													16	26					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1712516	1712516	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr16:1712516C>T	ENST00000397412.3	+	12	2538	c.2439C>T	c.(2437-2439)ctC>ctT	p.L813L	CRAMP1L_ENST00000293925.5_Silent_p.L813L|CRAMP1L_ENST00000436138.3_Silent_p.L810L|CRAMP1L_ENST00000262317.4_Silent_p.L191L|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	813						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CAAGACCCCTCTTGGTGCCTG	0.562000													78	117					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702444	27702444	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr10:27702444C>T	ENST00000438700.3	-	1	853	c.736G>A	c.(736-738)Gga>Aga	p.G246R		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	246					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATCTGGCTTCCCTTTTCCCGC	0.622000													32	21					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021323	51021323	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:51021323C>T	ENST00000599957.1	-	3	1844	c.1647G>A	c.(1645-1647)acG>acA	p.T549T	LRRC4B_ENST00000389201.3_Silent_p.T549T			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	549						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ACGCCTTCTCCGTGGGCCGCG	0.677000													20	27					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69626816	69626816	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:69626816A>C	ENST00000374403.3	+	28	3228	c.3146A>C	c.(3145-3147)gAg>gCg	p.E1049A	KIF4A_ENST00000374388.3_Missense_Mutation_p.E1049A	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1049	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TATTGTTCAGAGCATTCTGTG	0.418000													20	40					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87760658	87760658	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:87760658C>T	ENST00000398204.4	+	11	1223	c.900C>T	c.(898-900)gcC>gcT	p.A300A	ADAM22_ENST00000398209.3_Silent_p.A300A|ADAM22_ENST00000265727.7_Silent_p.A300A|ADAM22_ENST00000398201.4_Silent_p.A300A|ADAM22_ENST00000315984.7_Silent_p.A300A|ADAM22_ENST00000439864.1_Silent_p.A300A	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	300	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACAAGTTTGCCATATCTGAAA	0.353000													39	54					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84290301	84290301	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:84290301C>T	ENST00000428679.2	-	24	2760	c.2167G>A	c.(2167-2169)Gat>Aat	p.D723N	SNAP91_ENST00000195649.6_Missense_Mutation_p.D718N|SNAP91_ENST00000437520.1_Missense_Mutation_p.D416N|SNAP91_ENST00000521743.1_Missense_Mutation_p.D723N|SNAP91_ENST00000520302.1_Missense_Mutation_p.D693N|SNAP91_ENST00000520213.1_Missense_Mutation_p.D416N|SNAP91_ENST00000521485.1_Missense_Mutation_p.D718N|SNAP91_ENST00000439399.2_Missense_Mutation_p.D723N|SNAP91_ENST00000369694.2_Missense_Mutation_p.D723N			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	723					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATCAAAAGATCACCTAGACCA	0.428000													31	41					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5748190	5748190	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:5748190C>T	ENST00000381624.3	+	10	889	c.828C>T	c.(826-828)gtC>gtT	p.V276V	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	276						integral to membrane											TCGACACCGTCCGGGTGAAAA	0.542000													15	57					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487451	110487451	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:110487451G>A	ENST00000378402.5	+	51	8814	c.8710G>A	c.(8710-8712)Gat>Aat	p.D2904N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2904					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAAAGGTGTGGATCACATAAC	0.333000										HNSCC(38;0.096)			19	28					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914523	94914523	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:94914523G>A	ENST00000334708.3	-	2	653	c.589C>T	c.(589-591)Ccg>Tcg	p.P197S	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	197					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.P379T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CTGAACTCCGGGAGGCAGTCC	0.458000													74	131					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740499	62740499	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:62740499G>A	ENST00000371153.4	-	3	655	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	93										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGCACCACGGGAGACCAGTTT	0.612000													45	121					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832289	35832289	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:35832289C>T	ENST00000085219.5	+	8	1617	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S	CD22_ENST00000270311.6_Silent_p.S397S|CD22_ENST00000341773.6_Silent_p.S340S|CD22_ENST00000594250.1_Silent_p.S340S|CD22_ENST00000544992.2_Silent_p.S517S|CD22_ENST00000536635.2_Silent_p.S429S|CD22_ENST00000419549.2_Silent_p.S345S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	517	Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGCCCCTTTCCGAGATTCACT	0.572000													43	51					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718247	103718247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr13:103718247C>T	ENST00000245312.3	-	1	949	c.353G>A	c.(352-354)tGg>tAg	p.W118*		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	118					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.W118*(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCCATCGACCCAATAGGCCAA	0.502000													41	92					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215955440	215955440	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:215955440C>T	ENST00000366943.2	-	54	11070	c.10684G>A	c.(10684-10686)Gaa>Aaa	p.E3562K	USH2A_ENST00000307340.3_Missense_Mutation_p.E3562K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3562	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATGAATATTCCTGAAATGGT	0.438000										HNSCC(13;0.011)			28	88					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578790	9578790	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:9578790A>G	ENST00000301480.4	-	10	1046	c.833T>C	c.(832-834)tTa>tCa	p.L278S		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTGAACATTTAAAATCAGGCG	0.383000													59	86					0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54676220	54676220	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:54676220G>A	ENST00000546500.1	+	5	1148	c.533G>A	c.(532-534)aGa>aAa	p.R178K	HNRNPA1_ENST00000340913.6_Missense_Mutation_p.R178K|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.R178K|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.R178K|RP11-968A15.8_ENST00000553061.1_RNA			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	178	Globular B domain.|RRM 2.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGTGAAGTTAGAAAAGCCCTG	0.378000													36	54					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138305846	138305846	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:138305846C>T	ENST00000421622.1	-	10	1146	c.938G>A	c.(937-939)gGa>gAa	p.G313E	SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000419765.3_Missense_Mutation_p.G433E|SVOPL_ENST00000288513.5_Missense_Mutation_p.G281E|SVOPL_ENST00000436657.1_Missense_Mutation_p.G281E			Q8N434	SVOPL_HUMAN	SVOP-like	433						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCCGCTGGTTCCCATCCCCAA	0.592000													23	62					0	0	1	0	0
PORCN	64840	broad.mit.edu	37	X	48374125	48374125	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:48374125C>T	ENST00000367574.4	+	9	1226	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	PORCN_ENST00000537758.1_Missense_Mutation_p.R323C|PORCN_ENST00000355092.3_Missense_Mutation_p.R317C|PORCN_ENST00000359882.4_Missense_Mutation_p.R317C|PORCN_ENST00000355961.4_Missense_Mutation_p.R318C|PORCN_ENST00000361988.3_Missense_Mutation_p.R312C|PORCN_ENST00000326194.6_Missense_Mutation_p.R323C			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	323					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAATGCTCTCCGCCTGGGGAC	0.587000													50	70					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2409971	2409971	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:2409971G>A	ENST00000449969.1	+	2	261	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	PLCH2_ENST00000378486.3_Missense_Mutation_p.G61S|PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.G61S|PLCH2_ENST00000288766.5_Missense_Mutation_p.G16S|PLCH2_ENST00000419816.2_Missense_Mutation_p.G61S			O75038	PLCH2_HUMAN	phospholipase C, eta 2	61	Necessary for plasma membrane localization (By similarity).				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GCTGCGTGGCGGCTCCAAGGG	0.637000													13	22					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76399860	76399860	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:76399860C>T	ENST00000262764.6	+	7	1118	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	PGS1_ENST00000329897.7_Silent_p.I229I|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	364					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			AGATTCAAATCGATGAGATTG	0.547000													70	101					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10933918	10933918	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:10933918C>T	ENST00000298232.7	-	16	1274	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	TPTE_ENST00000361285.4_Missense_Mutation_p.E321K|TPTE_ENST00000342420.5_Missense_Mutation_p.E283K|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	321	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATTTACTTCCTTGGTGAAA	0.333000													77	325					0	0	1	0	0
PCYT2	5833	broad.mit.edu	37	17	79864051	79864051	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:79864051C>T	ENST00000538936.2	-	9	870	c.762G>A	c.(760-762)gaG>gaA	p.E254E	PCYT2_ENST00000570388.1_Silent_p.E176E|PCYT2_ENST00000331285.3_Silent_p.E176E|PCYT2_ENST00000570391.1_Silent_p.E222E|PCYT2_ENST00000538721.2_Silent_p.E272E|PCYT2_ENST00000571105.1_Silent_p.E254E	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	254	Catalytic 2 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGTGATTGACCTCCTGCGGCC	0.632000													13	26					0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4818213	4818213	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:4818213G>A	ENST00000248244.5	-	2	406	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	59					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCTCTAGAGAGATCCTGGCCT	0.647000													26	22					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41514573	41514573	+	Splice_Site	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:41514573C>T	ENST00000373198.3	-	2	324		c.e2-1		PTPRT_ENST00000373190.1_Splice_Site|PTPRT_ENST00000373201.1_Splice_Site|PTPRT_ENST00000373184.1_Splice_Site|PTPRT_ENST00000356100.2_Splice_Site|PTPRT_ENST00000373193.3_Splice_Site|PTPRT_ENST00000485499.1_Splice_Site|PTPRT_ENST00000373187.1_Splice_Site	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAACAGCCACCTGTAGACAAA	0.458000													47	38					0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224345374	224345374	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:224345374C>T	ENST00000366862.5	+	5	1076	c.1033C>T	c.(1033-1035)Cct>Tct	p.P345S	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	345			P -> H (found in a renal cell carcinoma case; somatic mutation).							endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TGAGGAGTCTCCTCGGAAACG	0.453000													91	104					0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224856533	224856533	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:224856533G>A	ENST00000409840.3	-	5	1332	c.672C>T	c.(670-672)tcC>tcT	p.S224S	SERPINE2_ENST00000409304.1_Silent_p.S224S|SERPINE2_ENST00000447280.2_Silent_p.S236S|SERPINE2_ENST00000258405.4_Silent_p.S224S			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	224					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACCGGAACACGGAGAGCTGGG	0.527000													11	46					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20043088	20043088	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:20043088C>T	ENST00000379651.3	-	9	1288	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	MAP7D2_ENST00000452324.3_Missense_Mutation_p.E372K|MAP7D2_ENST00000543767.1_Missense_Mutation_p.E309K|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000443379.3_Missense_Mutation_p.E379K|MAP7D2_ENST00000379643.5_Missense_Mutation_p.E465K	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	424										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCTTCCTTCTCCAGTCGTTCT	0.498000													117	199					0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106171669	106171669	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:106171669C>T	ENST00000541806.1	+	2	730	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	CLDN2_ENST00000540876.1_Silent_p.L71L|CLDN2_ENST00000336803.1_Silent_p.L71L	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	71					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TAGCACCCTTCTGGGCCTGCC	0.572000													69	109					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022129	120022129	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:120022129C>T	ENST00000379551.2	+	3	928	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	PRR16_ENST00000505123.1_Missense_Mutation_p.H144Y|PRR16_ENST00000407149.2_Missense_Mutation_p.H214Y|PRR16_ENST00000446965.1_Missense_Mutation_p.H144Y	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	214	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGTACAGTACCATGGCTATTG	0.488000													29	56					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834278	125834278	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:125834278G>A	ENST00000299308.3	+	2	341	c.333G>A	c.(331-333)atG>atA	p.M111I	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	111						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTGGAAACATGGACAAATTTC	0.468000													83	128					0	0	1	0	0
FAM69B	138311	broad.mit.edu	37	9	139616654	139616654	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:139616654G>A	ENST00000371691.1	+	2	1222	c.123G>A	c.(121-123)cgG>cgA	p.R41R	FAM69B_ENST00000371692.4_Silent_p.R128R|SNHG7_ENST00000414282.1_RNA			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	128						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CCAAGGCCCGGTCGGATGCGG	0.627000													43	13					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41497309	41497309	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:41497309G>A	ENST00000324071.4	+	1	106	c.99G>A	c.(97-99)ggG>ggA	p.G33G	CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	33					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TCCCACCAGGGCCCCGCCCTC	0.572000													153	285					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224495926	224495926	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:224495926G>A	ENST00000281701.6	-	6	641	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	NVL_ENST00000391875.2_Missense_Mutation_p.R22W|NVL_ENST00000361463.3_Missense_Mutation_p.R22W|NVL_ENST00000469075.1_Intron|NVL_ENST00000340871.4_Intron|NVL_ENST00000482491.1_Intron	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	128						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	p.R128W(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TTTCCTTTCCGATATAAAGAC	0.393000													73	71					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072410	197072410	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:197072410T>C	ENST00000367409.4	-	18	6227	c.5971A>G	c.(5971-5973)Aaa>Gaa	p.K1991E	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1991	IQ 13.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCATGATTTTCCACTTCTTT	0.348000													118	131					0	0	1	0	0
C1orf159	54991	broad.mit.edu	37	1	1018303	1018303	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:1018303G>A	ENST00000448924.1	-	11	1544	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	C1orf159_ENST00000379319.1_Silent_p.F189F|C1orf159_ENST00000379320.1_Silent_p.F335F|C1orf159_ENST00000421241.2_Silent_p.F189F|C1orf159_ENST00000379339.1_Silent_p.F371F|C1orf159_ENST00000294576.5_Silent_p.F335F			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	371						integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CCTCCCCCGGGAAGGCAGCGG	0.697000													8	11					0	0	1	0	0
TFF1	7031	broad.mit.edu	37	21	43783496	43783496	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:43783496G>A	ENST00000291527.2	-	2	204	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	36	P-type.				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						TGTCTTTCACGGGGGGCCACT	0.522000													18	31					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141202246	141202246	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:141202246C>T	ENST00000389484.3	-	64	11031	c.10060G>A	c.(10060-10062)Gaa>Aaa	p.E3354K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3354					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCTAAATTCAGCTAGGGGA	0.388000										TSP Lung(27;0.18)			5	40					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61537212	61537212	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:61537212G>T	ENST00000370371.4	-	6	1970	c.1615C>A	c.(1615-1617)Ctg>Atg	p.L539M	DIDO1_ENST00000354665.4_Missense_Mutation_p.L539M|DIDO1_ENST00000266071.5_Intron|DIDO1_ENST00000370368.1_Missense_Mutation_p.L539M|DIDO1_ENST00000395335.2_Intron|DIDO1_ENST00000395340.1_Intron|DIDO1_ENST00000395343.1_Intron|DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000370366.1_Intron	NM_022105.4	NP_071388.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	0					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAGGGGTCCAGGAGGCCAACC	0.537000													109	103					8.29381e-57	8.48532e-57	1	1	0
MTL5	9633	broad.mit.edu	37	11	68517939	68517939	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:68517939G>A	ENST00000443940.2	-	2	276	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L	MTL5_ENST00000544963.1_Silent_p.L64L|MTL5_ENST00000255087.5_Silent_p.L64L			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	64					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			AACGCGTGCAGGACGGGTTCC	0.682000													3	12					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43351625	43351625	+	Silent	SNP	C	C	T			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:43351625C>T	ENST00000395891.1	+	4	896	c.291C>T	c.(289-291)gtC>gtT	p.V97V	HECW1_ENST00000453890.1_Silent_p.V97V	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	97					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGACCTGGTCATCCACTGGG	0.542000													30	62					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	40					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105645086	105645086	+	Silent	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr7:105645086G>A	ENST00000542731.1	+	8	1113	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V	CDHR3_ENST00000343407.5_Silent_p.V52V|CDHR3_ENST00000317716.9_Silent_p.V335V|CDHR3_ENST00000478080.1_Silent_p.V247V|CDHR3_ENST00000541203.1_3'UTR|CDHR3_ENST00000470188.1_3'UTR			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	335	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCTTCATTGTGGAAGACGTCA	0.473000													12	68					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153224882	153224882	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:153224882G>A	ENST00000310441.7	-	9	2471	c.1505C>T	c.(1504-1506)aCc>aTc	p.T502I	HCFC1_ENST00000354233.3_Missense_Mutation_p.T433I|HCFC1_ENST00000369984.4_Missense_Mutation_p.T502I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	502					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGTCGCATGGTGACCAATGG	0.612000													74	100					0	0	1	0	0
KLRC1	3821	broad.mit.edu	37	12	10602539	10602539	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:10602539G>A	ENST00000544822.1	-	5	698	c.311C>T	c.(310-312)tCt>tTt	p.S104F	KLRC1_ENST00000347831.5_Intron|KLRC1_ENST00000408006.3_Intron|KLRC1_ENST00000536188.1_Missense_Mutation_p.S104F|KLRC1_ENST00000359151.3_Missense_Mutation_p.S104F	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	104					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						ATTCAGGGAAGAATTGTTGTG	0.224000													5	18					0	0	1	0	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													11	76	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143179283	143179284	+	RNA	INS	-	-	A	rs142380213	by1000genomes	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:143179283_143179284insA	ENST00000412204.2	-	0	2503				RP11-782C8.1_ENST00000438000.1_lincRNA																							gtgaaggatccacccccCAACA	0.490													3	6	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													8	11	---	---	---	---					
RP11-400N13.3	0	broad.mit.edu	37	1	222228079	222228080	+	RNA	INS	-	-	AGAA	rs113365457	by1000genomes	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr1:222228079_222228080insAGAA	ENST00000438158.1	-	0	344																											caggcaataatagagggaggct	0.574													5	0	---	---	---	---					
ANKRD53	79998	broad.mit.edu	37	2	71206311	71206312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr2:71206311_71206312insC	ENST00000272421.6	+	2	521_522	c.255_256insC	c.(253-258)cccccgfs	p.PP85fs	ANKRD53_ENST00000360589.3_Frame_Shift_Ins_p.PP85fs|ANKRD53_ENST00000457410.1_Intron|ANKRD53_ENST00000441349.1_Intron|AC007040.11_ENST00000606025.1_Intron	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	85										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CGCTCACCCCGCCCCGCGCTGA	0.728													43	58	---	---	---	---					
AC136289.1	0	broad.mit.edu	37	3	63795481	63795481	+	RNA	DEL	G	G	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:63795481delG	ENST00000443346.1	-	0	622																											atttcctgtaggtctctgcta	0.463													2	4	---	---	---	---					
ADAMTS9-AS2	100507098	broad.mit.edu	37	3	64762568	64762569	+	RNA	INS	-	-	T	rs138108802	by1000genomes	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:64762568_64762569insT	ENST00000460833.1	+	0	430				ADAMTS9-AS2_ENST00000474768.1_RNA|ADAMTS9-AS2_ENST00000481312.1_RNA																							agccacagaagtttttttttca	0.550													2	4	---	---	---	---					
LINC01213	101927992	broad.mit.edu	37	3	149956886	149956886	+	RNA	DEL	G	G	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr3:149956886delG	ENST00000498005.1	+	0	195																											gaaggcccttgacctcccagg	0.542													2	4	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005432	25005432	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:25005432delG	ENST00000382114.4	-	8	1464	c.1279delC	c.(1279-1281)gafs	p.R427fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	427						extracellular region		p.R427*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TTTTGCATTCGGAAGCTCTTC	0.522													194	345	---	---	---	---					
KLF3-AS1	79667	broad.mit.edu	37	4	38617612	38617613	+	RNA	INS	-	-	GT	rs151027949	by1000genomes	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:38617612_38617613insGT	ENST00000440181.1	-	0	1725					NR_026804.1																						TTTAAAGATGAgtgtgtgtgtg	0.530													4	3	---	---	---	---					
RP11-526A4.1	0	broad.mit.edu	37	4	150473029	150473032	+	RNA	DEL	CTCT	CTCT	-	rs66469136		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:150473029_150473032delCTCT	ENST00000511993.1	-	0	1525																											ctatcactgcctctctctctctct	0.422													4	5	---	---	---	---					
RP11-287F9.2	0	broad.mit.edu	37	4	176308488	176308488	+	RNA	DEL	G	G	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr4:176308488delG	ENST00000502661.1	-	0	140																											ctccctgggcgggggaagggt	0.602													2	4	---	---	---	---					
RP11-168A11.1	0	broad.mit.edu	37	5	79240592	79240592	+	RNA	DEL	G	G	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr5:79240592delG	ENST00000503167.1	+	0	521																											agacctgcctgggcaacatgg	0.552													2	4	---	---	---	---					
LOC101928406	101928406	broad.mit.edu	37	6	15996112	15996112	+	RNA	DEL	A	A	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr6:15996112delA	ENST00000451285.1	+	0	208																											TACTTTGTGGAACCCAATAAT	0.418													2	4	---	---	---	---					
RP11-149P24.1	0	broad.mit.edu	37	8	137070789	137070789	+	RNA	DEL	A	A	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr8:137070789delA	ENST00000523150.1	+	0	159																											agaatggagtaatacatcaag	0.458													2	4	---	---	---	---					
RNA5SP284	100873537	broad.mit.edu	37	9	68409028	68409029	+	RNA	INS	-	-	G			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr9:68409028_68409029insG	ENST00000417843.2	-	0	67				RNA5SP284_ENST00000384547.1_RNA																							ctggtaatagcggtaccgtagg	0.614													3	6	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89717673	89717674	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr10:89717673_89717674insAC	ENST00000371953.3	+	7	2055_2056	c.698_699insAC	c.(697-699)ccgfs	p.P233fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.R234fs*11(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*10(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R234fs*26(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACCCACACGACGGGAAGACA	0.421		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			66	49	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662745	6662746	+	In_Frame_Ins	INS	-	-	CAG	rs56194704		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:6662745_6662746insCAG	ENST00000299441.3	-	2	510_511	c.99_100insCTG	c.(97-102)ctgggc>ctCTGgggc	p.33_34LG>LWG		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCCAGCCCCcagcagcagca	0.639													5	6	---	---	---	---					
LOC283299	283299	broad.mit.edu	37	11	7802564	7802564	+	RNA	DEL	C	C	-	rs112070392		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:7802564delC	ENST00000527565.1	-	0	542																											cagcacagcacaactgctcta	0.537													5	5	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													9	207	---	---	---	---					
RP11-478C19.2	0	broad.mit.edu	37	12	110846465	110846465	+	RNA	DEL	A	A	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr12:110846465delA	ENST00000550231.1	-	0	97																											gatgggacgtagcttaggagg	0.597													2	4	---	---	---	---					
CTD-2314B22.3	0	broad.mit.edu	37	14	19888724	19888725	+	RNA	INS	-	-	C			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:19888724_19888725insC	ENST00000552602.1	-	0	293																											GCGCGGGGTCACCCCCGCCGGG	0.718													3	5	---	---	---	---					
KTN1-AS1	100129075	broad.mit.edu	37	14	56014173	56014174	+	RNA	DEL	AG	AG	-	rs72015246		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:56014173_56014174delAG	ENST00000554558.1	-	0	364																											aaaaaaaaaaagaaTTGGCACA	0.446													6	11	---	---	---	---					
RP11-638I2.4	0	broad.mit.edu	37	14	100678000	100678000	+	RNA	DEL	C	C	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr14:100678000delC	ENST00000554537.1	-	0	85																											CATTCTTCCTCCAGCTCTGAG	0.622													2	4	---	---	---	---					
HERC2P3	283755	broad.mit.edu	37	15	20631337	20631337	+	RNA	DEL	C	C	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:20631337delC	ENST00000428453.1	-	0	4041																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ttgtaagatacctgctgagag	0.348													4	8	---	---	---	---					
LOC101927079	101927079	broad.mit.edu	37	15	22305874	22305875	+	RNA	DEL	CT	CT	-	rs145001744		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:22305874_22305875delCT	ENST00000558896.1	+	0	99																											aatcgcccccctgatattgCAG	0.386													6	8	---	---	---	---					
LOC101928227	101928227	broad.mit.edu	37	15	38324161	38324161	+	RNA	DEL	T	T	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:38324161delT	ENST00000558081.2	+	0	155																											ggacaattgcttttttttttt	0.488													2	4	---	---	---	---					
LOC101929457	101929457	broad.mit.edu	37	15	77823028	77823028	+	RNA	DEL	T	T	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:77823028delT	ENST00000561283.2	+	0	806																											tccaccccccttggcctccca	0.542													2	4	---	---	---	---					
RP11-266O8.1	0	broad.mit.edu	37	15	93888565	93888566	+	RNA	INS	-	-	AG			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr15:93888565_93888566insAG	ENST00000543286.1	+	0	545																											gggagagggaaagAGAGAGAGA	0.450													3	3	---	---	---	---					
FAM187A	100528020	broad.mit.edu	37	17	42981239	42981240	+	In_Frame_Ins	INS	-	-	AGT	rs35098586	by1000genomes	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:42981239_42981240insAGT	ENST00000331733.4	+	4	1878_1879	c.42_43insAGT	c.(40-45)ggtcca>ggAGTtcca	p.14_15GP>GVP	CCDC103_ENST00000417826.2_3'UTR|AC015936.3_ENST00000441312.1_RNA|FAM187A_ENST00000412523.2_In_Frame_Ins_p.14_15GP>GVP	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1			family with sequence similarity 187, member A																		GGGCATGGGGGCTCCAGGCCTT	0.554													3	5	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													3	5	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr17:61899155_61899157delCTC	ENST00000427159.2	-	15	2167_2169	c.1522_1524delGAG	c.(1522-1524)del	p.E508del		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													7	318	---	---	---	---					
LOC100996324	100996324	broad.mit.edu	37	18	12749213	12749213	+	RNA	DEL	G	G	-	rs141456252		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr18:12749213delG	ENST00000589930.1	-	0	128				RP11-973H7.5_ENST00000587889.1_lincRNA																							ACTCCCCTCAGGCCTGGTTCT	0.587													4	2	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36211473	36211473	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr19:36211473delT	ENST00000420124.1	+	3	1224	c.1224delT	c.(1222-1224)ccfs	p.P409fs	WBP7_ENST00000222270.7_Frame_Shift_Del_p.P409fs|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Frame_Shift_Del_p.P409fs																							ctctgactcctccagcccctt	0.612													2	4	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29584835	29584835	+	RNA	DEL	T	T	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:29584835delT	ENST00000432067.1	-	0	288																											ATCCAACCTCTTTTCTACCAC	0.458													5	7	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29589676	29589677	+	RNA	DEL	TT	TT	-	rs73620373		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr20:29589676_29589677delTT	ENST00000432067.1	-	0	152																											ctgtttcctctttttttttatt	0.347													4	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11050665	11050666	+	RNA	DEL	TT	TT	-	rs55650859	by1000genomes	TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:11050665_11050666delTT	ENST00000470054.1	-	0	487									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTAtttttcctttttttttttt	0.366													4	3	---	---	---	---					
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	RNA	INS	-	-	T	rs144948060		TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347													3	5	---	---	---	---					
RP11-402P6.9	0	broad.mit.edu	37	X	70884167	70884167	+	RNA	DEL	A	A	-			TCGA-EB-A6R0-01A-12D-A32N-08	TCGA-EB-A6R0-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95acb5a0-ffb3-43c6-b00a-edaaedb84d99	24968a34-8e69-403f-a9a6-33dff7794e66	g.chrX:70884167delA	ENST00000422194.1	-	0	358																											AGTGAGGTGGAAAAGGCCTAG	0.577											OREG0019860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---