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
MUC16	94025	broad.mit.edu	37	19	9058191	9058191	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr19:9058191G>A	ENST00000397910.4	-	3	29458	c.29255C>T	c.(29254-29256)tCc>tTc	p.S9752F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9754	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAGGAGAGGAGGGGCTACT	0.473000													7	27					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873659	189873659	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:189873659G>A	ENST00000304636.3	+	48	3705	c.3535G>A	c.(3535-3537)Ggc>Agc	p.G1179S	COL3A1_ENST00000317840.5_Missense_Mutation_p.G876S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1179	Triple-helical region.		G -> R (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGGCTCCCCAGGCCACCCAGG	0.522000													21	72					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	99								p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													5	202					0.00307968	0.00313188	1	1	0
PTEN	5728	broad.mit.edu	37	10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	rs121909231		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	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.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(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)		CAAAGCCAACCGATACTTTTC	0.333000		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)			9	56					0	0	1	0	0
THEM5	284486	broad.mit.edu	37	1	151823573	151823573	+	Silent	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:151823573C>T	ENST00000368817.5	-	3	551	c.420G>A	c.(418-420)tcG>tcA	p.S140S		NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	140							hydrolase activity	p.S140S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGACAGACCGACTTCTTCT	0.567000													6	39					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117704649	117704649	+	Missense_Mutation	SNP	G	G	A	rs149313880	byFrequency	TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:117704649G>A	ENST00000368508.3	-	16	2525	c.2327C>T	c.(2326-2328)aCg>aTg	p.T776M	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.T771M	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	776					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTGTGTCCCGTCAACACAGA	0.383000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								39	87					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140397391	140397391	+	Missense_Mutation	SNP	G	G	A	rs146449412		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:140397391G>A	ENST00000286349.3	+	1	511	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	107						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACAAGGGCCGCCTCAGGAGC	0.552000													9	27					0	0	1	0	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	54					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90605138	90605138	+	Silent	SNP	T	T	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:90605138T>C	ENST00000369352.1	+	1	951	c.951T>C	c.(949-951)aaT>aaC	p.N317N		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	317					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ACCCTTCCAATGGGAAAAAGG	0.502000													11	26					0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55251700	55251700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:55251700G>A	ENST00000371276.4	-	5	1079	c.976C>T	c.(976-978)Cga>Tga	p.R326*	TTC22_ENST00000371274.4_Nonsense_Mutation_p.R326*	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	326							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCTGGATCTCGTAGGACATCC	0.542000													11	28					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85476483	85476483	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr15:85476483G>A	ENST00000394573.1	+	13	1393	c.1191G>A	c.(1189-1191)gaG>gaA	p.E397E	SLC28A1_ENST00000286749.3_Silent_p.E397E|SLC28A1_ENST00000537216.1_Silent_p.E397E|SLC28A1_ENST00000537624.1_Silent_p.E397E|SLC28A1_ENST00000538177.1_Intron	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	397					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTAGGAGGGAGGAAGGAGTGA	0.592000													8	57					0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45943164	45943164	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:45943164T>C	ENST00000357632.2	+	3	1064	c.884T>C	c.(883-885)aTt>aCt	p.I295T	LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.I283T|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Missense_Mutation_p.I283T|CCR9_ENST00000422395.1_3'UTR	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	295					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TCCACCAACATTGACATCTGC	0.498000													22	70					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109513512	109513512	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:109513512G>A	ENST00000409271.1	-	12	1737	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	EDAR_ENST00000258443.2_Missense_Mutation_p.R400C|EDAR_ENST00000376651.1_Missense_Mutation_p.R432C			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	400					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GTGCTGATGCGGTCAAAGAGT	0.562000													4	16					0	0	1	0	0
GOLT1A	127845	broad.mit.edu	37	1	204170871	204170871	+	Silent	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	62					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567000													9	1474					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	37					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872293	213872293	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:213872293A>C	ENST00000457361.1	-	8	1540	c.1372T>G	c.(1372-1374)Tac>Gac	p.Y458D	IKZF2_ENST00000342002.2_Missense_Mutation_p.Y464D|IKZF2_ENST00000434687.1_Missense_Mutation_p.Y458D|IKZF2_ENST00000374319.4_Missense_Mutation_p.Y432D|IKZF2_ENST00000374327.4_Missense_Mutation_p.Y313D|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Missense_Mutation_p.Y384D|IKZF2_ENST00000451136.2_Missense_Mutation_p.Y386D	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	458					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)		AAGACCTTGTAGATGTCCTTC	0.473000													25	124					0	0	1	0	0
MSL3P1	0	broad.mit.edu	37	2	234775387	234775387	+	RNA	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:234775387G>A	ENST00000438684.1	-	0	727					NR_024322.1																						CTGCGGCCTGGATGGATTCAA	0.527000													8	24					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29556869	29556869	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr17:29556869C>T	ENST00000358273.4	+	22	3250	c.2867C>T	c.(2866-2868)aCc>aTc	p.T956I	NF1_ENST00000356175.3_Missense_Mutation_p.T956I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	956					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGACTGATACCAATACTCAA	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			13	73					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38645309	38645309	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:38645309A>C	ENST00000413689.1	-	12	1977	c.1784T>G	c.(1783-1785)gTg>gGg	p.V595G	SCN5A_ENST00000455624.2_Missense_Mutation_p.V595G|SCN5A_ENST00000451551.2_Missense_Mutation_p.V595G|SCN5A_ENST00000450102.2_Missense_Mutation_p.V595G|SCN5A_ENST00000449557.2_Missense_Mutation_p.V595G|SCN5A_ENST00000443581.1_Missense_Mutation_p.V595G|SCN5A_ENST00000425664.1_Missense_Mutation_p.V595G|SCN5A_ENST00000423572.2_Missense_Mutation_p.V595G|SCN5A_ENST00000414099.2_Missense_Mutation_p.V595G|SCN5A_ENST00000333535.4_Missense_Mutation_p.V595G	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	595					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATTGCAGTCCACAGTGCTGTT	0.667000													20	67					0	0	1	0	0
STEAP1	26872	broad.mit.edu	37	7	89791296	89791296	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:89791296G>A	ENST00000297205.2	+	4	866	c.666G>A	c.(664-666)ctG>ctA	p.L222L	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	222	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					ATGTGTCTCTGGGAATTGTGG	0.393000													33	154					0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2192950	2192950	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:2192950C>T	ENST00000381178.1	-	1	85	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	TH_ENST00000352909.3_Missense_Mutation_p.A23T|TH_ENST00000381175.1_Missense_Mutation_p.A23T|TH_ENST00000333684.5_Missense_Mutation_p.A23T	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	23					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCCTGCTTGGCGTCCAGCTCA	0.697000													3	44					0	0	1	0	0
MS4A5	64232	broad.mit.edu	37	11	60197174	60197174	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:60197174G>A	ENST00000300190.2	+	1	113	c.27G>A	c.(25-27)ccG>ccA	p.P9P	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	9						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CACACAGTCCGGTGTTTCTGG	0.423000													10	100					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152722323	152722323	+	Silent	SNP	A	A	G			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:152722323A>G	ENST00000367255.5	-	47	7580	c.6979T>C	c.(6979-6981)Ttg>Ctg	p.L2327L	SYNE1_ENST00000423061.1_Silent_p.L2334L|SYNE1_ENST00000341594.5_Silent_p.L2364L|SYNE1_ENST00000265368.4_Silent_p.L2327L|SYNE1_ENST00000448038.1_Silent_p.L2334L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2327					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)		CAGTTCATCAACGATTCTTCC	0.368000										HNSCC(10;0.0054)			8	39					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75622617	75622617	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:75622617G>A	ENST00000294638.5	+	9	1514	c.850G>A	c.(850-852)Gtc>Atc	p.V284I	LHX8_ENST00000356261.3_Missense_Mutation_p.V274I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	284						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAAGAAACACGTCAGTCCTAA	0.502000													32	101					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33644509	33644509	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:33644509G>C	ENST00000242067.6	+	22	3075	c.2554G>C	c.(2554-2556)Gaa>Caa	p.E852Q	BBS9_ENST00000350941.3_Missense_Mutation_p.E812Q|BBS9_ENST00000355070.2_Missense_Mutation_p.E847Q|BBS9_ENST00000354265.4_Missense_Mutation_p.E817Q|BBS9_ENST00000396127.2_Missense_Mutation_p.E817Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	852					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTCAGACCTAGAAGAAAGATC	0.418000									Bardet-Biedl syndrome				3	26					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149313501	149313501	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:149313501G>A	ENST00000255266.5	-	3	828	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	237					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R237C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACCTGGCCACGTCGAGTTTCA	0.473000													6	10					0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26083560	26083560	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr22:26083560C>T	ENST00000324198.5	+	11	1075	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	295	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GAAGGAGATGCGGTTTTATGC	0.418000													3	63					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540855	28540855	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:28540855C>G	ENST00000452236.2	-	4	3428	c.2811G>C	c.(2809-2811)ttG>ttC	p.L937F		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	937					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tgtttgtaggcaaagaggctg	0.318000													6	13					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868982	97868982	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:97868982C>A	ENST00000437310.1	+	1	813	c.753C>A	c.(751-753)taC>taA	p.Y251*		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATCTTTATACTATGGGCCCC	0.413000													8	34					5.4927e-09	5.78179e-09	1	1	0
RBM19	9904	broad.mit.edu	37	12	114374833	114374833	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr12:114374833C>T	ENST00000545145.2	-	16	2125	c.2047G>A	c.(2047-2049)Gac>Aac	p.D683N	RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.D683N|RBM19_ENST00000392561.3_Missense_Mutation_p.D683N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	683					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCTGCTGGGTCCTTTTCCATG	0.557000													24	107					0	0	1	0	0
EFCAB1	79645	broad.mit.edu	37	8	49644012	49644012	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr8:49644012C>T	ENST00000262103.3	-	2	189	c.109G>A	c.(109-111)Gga>Aga	p.G37R	EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	37							calcium ion binding	p.G37*(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCTACTCCTCCCACCAAGTCA	0.338000													5	51					0	0	1	0	0
TMEM52B	120939	broad.mit.edu	37	12	10332177	10332177	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr12:10332177G>A	ENST00000381923.2	+	2	408	c.4G>A	c.(4-6)Gga>Aga	p.G2R	TMEM52B_ENST00000298530.3_5'UTR|TMEM52B_ENST00000536952.1_Missense_Mutation_p.G2R					transmembrane protein 52B																		CAGCCCGATGGGAGTCCGAGT	0.473000													41	144					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45945556	45945556	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr21:45945556G>A	ENST00000323084.4	-	8	1381	c.1316C>T	c.(1315-1317)gCg>gTg	p.A439V	TSPEAR_ENST00000397916.1_Missense_Mutation_p.A371V|C21orf90_ENST00000465978.1_Intron	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	439					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GTTGGCCACCGCCAGGAAGTG	0.607000													20	119					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169127065	169127065	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:169127065C>T	ENST00000256935.8	+	13	1260	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	394					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATTCAGATTCGCAAGGACTA	0.562000													22	111					0	0	1	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785365	37785365	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr21:37785365G>A	ENST00000314103.4	+	12	1396	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	415					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GACCCAGACCGGTAGAGGGAA	0.577000													6	43					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222838722	222838722	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:222838722C>A	ENST00000344922.5	+	28	5510	c.5485C>A	c.(5485-5487)Cct>Act	p.P1829T	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.P707T|MIA3_ENST00000344441.6_Missense_Mutation_p.P1829T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1829	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACGGGACCTGCCTCTCCACCC	0.493000													55	199					2.78941e-39	2.98865e-39	1	1	0
SIMC1	375484	broad.mit.edu	37	5	175717198	175717198	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:175717198G>A	ENST00000443967.1	+	4	1021	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	SIMC1_ENST00000429602.2_Missense_Mutation_p.R224Q|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000503595.1_3'UTR					SUMO-interacting motifs containing 1																		TGCCCCCTGCGACCTTTGCCA	0.587000													6	15					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99486176	99486176	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr15:99486176A>G	ENST00000268035.6	+	19	4093	c.3482A>G	c.(3481-3483)tAt>tGt	p.Y1161C	IGF1R_ENST00000558762.1_Missense_Mutation_p.Y1160C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1161	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CGAGATATCTATGAGACAGAC	0.552000													21	75					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74712848	74712848	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr16:74712848G>A	ENST00000308807.7	-	7	1450	c.987C>T	c.(985-987)caC>caT	p.H329H	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	329	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TGATTTTTCCGTGGAGTTCAG	0.507000													8	32					0	0	1	0	0
MALAT1	0	broad.mit.edu	37	11	65273557	65273557	+	RNA	SNP	T	T	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:65273557T>C	ENST00000534336.1	+	0	8325					NR_002819.2																						CTTTTTGGCCTTTTTCTAGCT	0.428000													3	40					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													3	33					0	0	1	0	0
UBE2L6	9246	broad.mit.edu	37	11	57322047	57322047	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:57322047G>A	ENST00000287156.4	-	3	368	c.173C>T	c.(172-174)cCg>cTg	p.P58L	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	58					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						ATACTCCGGCGGGAAGCTGAT	0.542000													25	96					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224254	248224254	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:248224254A>G	ENST00000359959.3	+	1	271	c.271A>G	c.(271-273)Atc>Gtc	p.I91V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TAACAAGTCTATCTCCTTCAC	0.433000													51	247					0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21133990	21133990	+	Silent	SNP	C	C	T	rs144089172		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr22:21133990C>T	ENST00000215727.5	+	2	673	c.390C>T	c.(388-390)aaC>aaT	p.N130N	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Silent_p.N130N|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	130					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ACATCCTCAACGCCAAGTTCG	0.498000													17	63					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55223604	55223604	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:55223604G>T	ENST00000275493.2	+	8	1148	c.971G>T	c.(970-972)cGc>cTc	p.R324L	EGFR_ENST00000420316.2_Missense_Mutation_p.R324L|EGFR_ENST00000455089.1_Missense_Mutation_p.R279L|EGFR_ENST00000342916.3_Missense_Mutation_p.R324L|EGFR_ENST00000344576.2_Missense_Mutation_p.R324L|EGFR_ENST00000442591.1_Missense_Mutation_p.R324L|EGFR_ENST00000454757.2_Missense_Mutation_p.R271L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	324					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R324L(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GACGGCGTCCGCAAGTGTAAG	0.602000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			207	32					1.69987e-119	1.8544e-119	1	1	0
ABI3BP	25890	broad.mit.edu	37	3	100585771	100585771	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:100585771C>T	ENST00000471714.1	-	10	1070	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	ABI3BP_ENST00000284322.5_Missense_Mutation_p.E321K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.E321K			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	321						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTTTAGATTCGGCAGGTAAT	0.373000													3	36					0	0	1	0	0
RPS18	6222	broad.mit.edu	37	6	33243984	33243984	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:33243984G>A	ENST00000439602.2	+	5	433	c.323G>A	c.(322-324)cGt>cAt	p.R108H	RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_Missense_Mutation_p.R38H			P62269	RS18_HUMAN	ribosomal protein S18	108					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						AACAAGCTCCGTGAAGACCTG	0.572000													3	27					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122817281	122817281	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:122817281G>A	ENST00000227349.2	+	6	2007	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	C11orf63_ENST00000531316.1_Silent_p.Q570Q	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	570										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TAATGGAGCAGCATCAGCAAG	0.483000													12	60					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96789808	96789808	+	Silent	SNP	C	C	T	rs148115152		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:96789808C>T	ENST00000342380.2	-	9	1076	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	359					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GCTGCCTTGCCGAGGCCTCTG	0.662000													13	73					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109527458	109527458	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:109527458G>A	ENST00000409271.1	-	8	1043	c.600C>T	c.(598-600)atC>atT	p.I200I	EDAR_ENST00000258443.2_Silent_p.I200I|EDAR_ENST00000376651.1_Silent_p.I200I			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	200					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ggacgatggcgatggccatga	0.577000													8	28					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36869336	36869336	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr17:36869336G>A	ENST00000378137.5	+	9	1041	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	MLLT6_ENST00000325718.7_Intron			P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	0					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGTGGGGGACGGCACTCAGGC	0.612000			T	MLL	AL								3	44					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203819140	203819140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:203819140delA	ENST00000545588.1	+	14	5752	c.1925delA	c.(1924-1926)gafs	p.E642fs	ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	642							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGACCTTGGAAAAAAGGGGT	0.418													7	1785	---	---	---	---					
TMEM81	388730	broad.mit.edu	37	1	205052694	205052694	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:205052694delC	ENST00000367167.3	-	1	951	c.755delG	c.(754-756)gcfs	p.G252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCTGCAGGCCCCCCCTTAG	0.537													7	1355	---	---	---	---					
PCDHB6	0	broad.mit.edu	37	5	140530216	140530216	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:140530216delT	ENST00000231136.1	+	1	378	c.378delT	c.(376-378)aafs	p.N126fs	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		126	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.N126K(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGATATAAATGACCACGCCC	0.453													21	97	---	---	---	---