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
TRMT2B	79979	broad.mit.edu	37	X	100275475	100275475	+	Splice_Site	SNP	C	C	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:100275475C>A	ENST00000338687.7	-	10	1839		c.e10+1		TRMT2B_ENST00000545398.1_Splice_Site|TRMT2B_ENST00000372936.3_Splice_Site|TRMT2B_ENST00000372931.5_Splice_Site|TRMT2B_ENST00000372935.1_Splice_Site|TRMT2B_ENST00000372939.1_Splice_Site			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)								tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						AAGCTGTGTACCATTGAAGGC	0.488000													58	90					4.17463e-26	4.61406e-26	1	1	0
ATP13A4	84239	broad.mit.edu	37	3	193207598	193207598	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:193207598T>G	ENST00000342695.4	-	7	981	c.659A>C	c.(658-660)gAa>gCa	p.E220A	ATP13A4_ENST00000295548.3_Missense_Mutation_p.E220A|ATP13A4_ENST00000392443.3_Missense_Mutation_p.E220A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	220					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTTATAGTCTTCACTAAACCA	0.338000													4	131					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55223800	55223800	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:55223800T>A	ENST00000340465.2	+	6	902	c.816T>A	c.(814-816)agT>agA	p.S272R		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	272						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTCAGGAAGTGATGACTGCA	0.433000													8	90					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41382446	41382446	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:41382446A>G	ENST00000301146.4	-	8	1830	c.1289T>C	c.(1288-1290)gTg>gCg	p.V430A	CYP2A7_ENST00000291764.3_Missense_Mutation_p.V379A|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	430						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGAAAAGGGCACAAAAGCATC	0.567000													9	73					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	74					0	0	1	0	0
TMLHE	55217	broad.mit.edu	37	X	154736769	154736769	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:154736769T>C	ENST00000334398.3	-	6	930	c.785A>G	c.(784-786)cAt>cGt	p.H262R	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.H262R	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	262					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTCCTTCATGTTTAAGACA	0.363000													76	184					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110932374	110932374	+	Silent	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:110932374T>C	ENST00000265171.5	+	24	3832	c.3387T>C	c.(3385-3387)acT>acC	p.T1129T	EGF_ENST00000509793.1_Silent_p.T1087T|EGF_ENST00000503392.1_Silent_p.T1088T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1129					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGCAACCAACTTCATGGAGGC	0.453000													30	23					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566894	136566894	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:136566894A>G	ENST00000264162.2	-	8	3033	c.3023T>C	c.(3022-3024)gTg>gCg	p.V1008A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1008	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)		GTTGCTTGCCACCAAGCCATT	0.507000													21	35					0	0	1	0	0
CCT6P3	0	broad.mit.edu	37	7	64498755	64498755	+	RNA	SNP	G	G	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:64498755G>C	ENST00000426828.1	+	0	18					NR_033416.1																						gcaggatggcgacggcCGTCC	0.746000													6	5					0	0	1	0	0
RP11-19N8.2	0	broad.mit.edu	37	16	33013807	33013807	+	RNA	SNP	G	G	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:33013807G>T	ENST00000567619.1	-	0	499																											GGTGCAGCTGGTGCAGTCTGG	0.592000													13	65					0.00074312	0.000780276	1	1	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070558	32070558	+	RNA	SNP	G	G	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:32070558G>T	ENST00000566806.1	-	0	499																											GGTGCAGCTGGTGCAGTCTGG	0.587000													4	68					0.00448238	0.00455468	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89390072	89390072	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:89390072G>A	ENST00000336596.2	+	4	1046	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	EPHA3_ENST00000494014.1_Missense_Mutation_p.R274Q|EPHA3_ENST00000452448.2_Missense_Mutation_p.R274Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	274	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTAGCTTGTCGACCAGGTTTC	0.353000										TSP Lung(6;0.00050)			4	111					0	0	1	0	0
OPN1MW2	728458	broad.mit.edu	37	X	153496073	153496073	+	Silent	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:153496073G>A	ENST00000369929.4	+	5	861	c.801G>A	c.(799-801)acG>acA	p.T267T	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2											haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGAAGTGACGCGCATGGTGG	0.582000													12	502					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	41					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66197690	66197690	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:66197690C>T	ENST00000273854.3	-	17	3609		c.e17+1		EPHA5_ENST00000511294.1_Silent_p.E1004E|EPHA5_ENST00000432638.2_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5						cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAATTACTCACTCCAAGGTCA	0.408000										TSP Lung(17;0.13)			24	53					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													6	147					0	0	1	0	0
RP11-266K4.9	0	broad.mit.edu	37	12	8391292	8391292	+	RNA	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:8391292G>A	ENST00000304751.9	+	0	585				FAM86FP_ENST00000427893.2_RNA																							AGAAAGCACCGGGCATACTTG	0.562000													4	55					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67721477	67721477	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr18:67721477A>G	ENST00000255674.6	-	38	5361	c.5075T>C	c.(5074-5076)cTg>cCg	p.L1692P	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1692							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACATGACTGCAGAAGCCTGGA	0.418000													15	24					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172579033	172579033	+	Silent	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr1:172579033C>T	ENST00000367723.3	+	23	3979	c.3855C>T	c.(3853-3855)ggC>ggT	p.G1285G	SUCO_ENST00000263688.3_Silent_p.G1133G	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		TAGCCAATGGCGACATAAAAG	0.388000													4	79					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147181	52147181	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:52147181C>T	ENST00000360844.6	-	5	904	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	288	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.R281L(1)|p.R288L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TTTTCCCTCCCGGAACCAGCT	0.597000													28	4					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567000										HNSCC(15;0.026)			6	568					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								27	57					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241758	3241758	+	Silent	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:3241758C>T	ENST00000217939.6	-	5	2122	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	656	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGCCCCTTGCTGGTTGACAG	0.493000													45	149					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117335712	117335712	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:117335712G>A	ENST00000321322.6	-	17	3392	c.3391C>T	c.(3391-3393)Cgg>Tgg	p.R1131W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R861W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1071	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGCCAGCCCGATTGAAGGCT	0.617000													14	61					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26315440	26315440	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr10:26315440T>C	ENST00000265944.5	+	10	1098	c.932T>C	c.(931-933)aTg>aCg	p.M311T	MYO3A_ENST00000543632.1_Missense_Mutation_p.M311T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	311					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CATCAATGCATGGGAGGCACA	0.333000													9	66					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100403136	100403136	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:100403136G>C	ENST00000358173.3	-	15	3133	c.2665C>G	c.(2665-2667)Cgg>Ggg	p.R889G	EPHB4_ENST00000360620.3_Missense_Mutation_p.R889G	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	889	Protein kinase.		R -> W (in a gastric adenocarcinoma sample; somatic mutation).		cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R889W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCATTCTCCCGGGCCACGATT	0.637000													28	63					0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432396	30432396	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr20:30432396G>T	ENST00000375978.3	-	1	1024	c.950C>A	c.(949-951)aCc>aAc	p.T317N		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	317					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TAGGCAGGGGGTCAGCCCCAA	0.647000													13	32					1.5842e-08	1.72077e-08	1	1	0
CSF2RB	1439	broad.mit.edu	37	22	37333970	37333970	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr22:37333970T>C	ENST00000262825.5	+	14	2355	c.2138T>C	c.(2137-2139)gTg>gCg	p.V713A	CSF2RB_ENST00000406230.1_Missense_Mutation_p.V713A|CSF2RB_ENST00000403662.3_Missense_Mutation_p.V707A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V654A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	707					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GACCCTGGAGTGGCCTCTGGT	0.612000													11	40					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98507916	98507916	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:98507916C>G	ENST00000359863.4	+	15	1797	c.1588C>G	c.(1588-1590)Caa>Gaa	p.Q530E	TRRAP_ENST00000446306.3_Missense_Mutation_p.Q530E|TRRAP_ENST00000355540.3_Missense_Mutation_p.Q530E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	530					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTCGAGAAGCAAGGAGAAAA	0.617000													32	40					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28437207	28437207	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr15:28437207C>T	ENST00000261609.7	-	53	8459	c.8351G>A	c.(8350-8352)cGc>cAc	p.R2784H		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2784	DOC.				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)		CTTCACCATGCGGGACCAGCT	0.587000											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	191					0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123424704	123424704	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:123424704T>C	ENST00000542678.1	-	9	4535	c.1697A>G	c.(1696-1698)gAc>gGc	p.D566G	ABCB9_ENST00000442028.2_Missense_Mutation_p.D566G|ABCB9_ENST00000346530.5_Missense_Mutation_p.D523G|ABCB9_ENST00000442833.2_Missense_Mutation_p.D566G|ABCB9_ENST00000280560.8_Missense_Mutation_p.D566G|ABCB9_ENST00000540285.1_Missense_Mutation_p.D503G|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000344275.7_Missense_Mutation_p.D566G|ABCB9_ENST00000392439.3_Missense_Mutation_p.D566G			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	566	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGGCTTGCCGTCCAGCAGCAC	0.632000													6	6					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596226	24596226	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:24596226C>T	ENST00000535378.1	-	4	1291	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	KIAA0319_ENST00000430948.2_Missense_Mutation_p.A181T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000378214.3_Missense_Mutation_p.A226T	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	226					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.A226T(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTTTTGGGGCAGGGGTTGAA	0.562000													40	7					0	0	1	0	0
TIMP1	7076	broad.mit.edu	37	X	47442890	47442890	+	Translation_Start_Site	SNP	T	T	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:47442890T>A	ENST00000377018.2	+	0	222				SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000218388.4_Missense_Mutation_p.C26S|TIMP1_ENST00000456754.2_Missense_Mutation_p.C26S|TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000295987.7_Intron			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1						erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						GGCCTGCACCTGTGTCCCACC	0.622000													28	32					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	rs139712001	byFrequency	TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:7809880C>T	ENST00000315599.7	-	5	869	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_ENST00000315591.8_Missense_Mutation_p.A259T|CD209_ENST00000593821.1_Missense_Mutation_p.A147T|CD209_ENST00000593660.1_Missense_Mutation_p.A213T|CD209_ENST00000204801.8_Missense_Mutation_p.A239T|CD209_ENST00000354397.6_Missense_Mutation_p.A283T|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.A122T|CD209_ENST00000602261.1_Missense_Mutation_p.A191T|CD209_ENST00000601256.1_Missense_Mutation_p.A259T|CD209_ENST00000601951.1_Missense_Mutation_p.A259T|CD209_ENST00000301357.8_Missense_Mutation_p.A147T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	283	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.A283T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCAGGCGGTGATGGAG	0.582000													5	59					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	12					0	0	1	0	0
SCD5	79966	broad.mit.edu	37	4	83557824	83557824	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:83557824G>A	ENST00000319540.4	-	4	1041	c.722C>T	c.(721-723)gCc>gTc	p.A241V		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	241					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CATGTGGGCGGCGCTGTTGAC	0.562000													34	47					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433471	55433471	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:55433471A>G	ENST00000314259.3	+	1	858	c.829A>G	c.(829-831)Aca>Gca	p.T277A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAATCATCACACCCATGTT	0.453000													42	54					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			26	32					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	77					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30371533	30371533	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr20:30371533G>A	ENST00000340513.4	+	13	1858	c.1330G>A	c.(1330-1332)Gat>Aat	p.D444N	TPX2_ENST00000300403.6_Missense_Mutation_p.D408N			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	408					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACGTGAACTTGATCCCAGAAT	0.363000													10	114					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7439282	7439282	+	Silent	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:7439282C>T	ENST00000318881.6	+	5	1497	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	420	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTGTTTACAACGAAGCCATAG	0.468000													12	51					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874643	88874643	+	Silent	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:88874643T>C	ENST00000303236.3	-	13	2659	c.2358A>G	c.(2356-2358)gaA>gaG	p.E786E	EIF2AK3_ENST00000470706.1_Intron|EIF2AK3_ENST00000419748.1_Silent_p.E635E|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	786	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AAGGACAAAGTTCAAAGGAGT	0.453000													109	123					0	0	1	0	0
MSI1	4440	broad.mit.edu	37	12	120791134	120791134	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:120791134C>A	ENST00000257552.2	-	10	789	c.701G>T	c.(700-702)gGc>gTc	p.G234V	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	234					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGGGCGAGGCCTGTATAACT	0.612000													43	54					6.61955e-31	7.44699e-31	1	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64597514	64597514	+	Silent	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:64597514G>A	ENST00000342711.5	-	30	3395	c.3396C>T	c.(3394-3396)cgC>cgT	p.R1132R		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1132	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCTGCTGCACGCGCCGGCACT	0.662000													14	22					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45160021	45160021	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:45160021C>G	ENST00000296129.1	-	2	309	c.175G>C	c.(175-177)Gtc>Ctc	p.V59L	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.V59L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	59						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTAGAAATGACGATGTAACAG	0.428000													26	43					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25769311	25769311	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:25769311A>G	ENST00000377905.4	+	3	309	c.190A>G	c.(190-192)Atg>Gtg	p.M64V	SLC17A4_ENST00000439485.2_Missense_Mutation_p.M64V|SLC17A4_ENST00000397076.2_Missense_Mutation_p.M10V	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	64					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATCCCAGCTATGGTGAACAA	0.478000													20	36					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57722359	57722359	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:57722359G>A	ENST00000333493.4	+	12	1797	c.1636G>A	c.(1636-1638)Gca>Aca	p.A546T	GPR97_ENST00000327655.6_Intron|GPR97_ENST00000450388.3_Missense_Mutation_p.A426T|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	546					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCCACTCCGCATCTcaaga	0.552000													33	38					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53005016	53005016	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:53005016C>T	ENST00000305748.3	-	6	1116	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	361	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AATCTCCGAGCGCAGTCTTTG	0.567000													21	70					0	0	1	0	0
MST1L	0	broad.mit.edu	37	1	17083787	17083787	+	RNA	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr1:17083787G>A	ENST00000455405.2	-	0	801																											GCGTGAAGACGGCTGGCCAGC	0.552000													4	25					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233898830	233898830	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:233898830A>G	ENST00000233840.3	+	2	206	c.206A>G	c.(205-207)cAa>cGa	p.Q69R		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	69							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		ACTCAGTGGCAAGCTCAGGAG	0.622000													41	58					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18872700	18872700	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:18872700T>C	ENST00000395647.2	+	7	646	c.605T>C	c.(604-606)aTc>aCc	p.I202T	FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395645.3_Missense_Mutation_p.I202T|SLC5A10_ENST00000417251.2_Missense_Mutation_p.I202T|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron	NM_152351.3	NP_689564.3	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	202					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CAGACGCTCATCATGGTGGTG	0.637000													31	44					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88566414	88566414	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:88566414A>G	ENST00000266712.6	+	8	1311	c.1091A>G	c.(1090-1092)aAc>aGc	p.N364S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	364						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCTGCATCGAACCTTTTTTTT	0.308000													41	72					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41529994	41529994	+	Silent	SNP	G	G	A	rs149859024	byFrequency	TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr8:41529994G>A	ENST00000396942.1	-	38	5057	c.4974C>T	c.(4972-4974)gaC>gaT	p.D1658D	ANK1_ENST00000289734.7_Silent_p.D1658D|ANK1_ENST00000347528.4_Silent_p.D1658D|ANK1_ENST00000396945.1_Silent_p.D1658D|ANK1_ENST00000379758.2_Silent_p.D1658D|ANK1_ENST00000352337.4_Silent_p.D1658D|ANK1_ENST00000265709.8_Silent_p.D1699D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1658	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)			CACCTGTCGCGTCATCCTGCC	0.537000													4	183					0	0	1	0	0
PCDHB5	0	broad.mit.edu	37	5	140515080	140515080	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr5:140515080C>T	ENST00000231134.5	+	1	281	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		22					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATATTGTTGCTTTTGTGGGA	0.488000													20	34					0	0	1	0	0
ESPNP	0	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													3	6	---	---	---	---					
TRBV7-7	0	broad.mit.edu	37	7	142120169	142120170	+	RNA	DEL	CA	CA	-			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:142120169_142120170delCA	ENST00000390377.1	-	0	49																											GTAGTCATCTcacacacacaca	0.426													7	30	---	---	---	---					
RTN1	6252	broad.mit.edu	37	14	60069953	60069957	+	Frame_Shift_Del	DEL	GTAGA	GTAGA	-	rs147040027		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr14:60069953_60069957delGTAGA	ENST00000267484.5	-	7	2537_2541	c.2202_2206delTCTAC	c.(2200-2208)acctfs	p.TLP734fs	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Frame_Shift_Del_p.TLP151fs|RTN1_ENST00000342503.4_Frame_Shift_Del_p.TLP166fs	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	734	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.P736S(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TACACTACAGGTAGAGTAAACATTG	0.298													13	53	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													7	42	---	---	---	---					
CCDC155	147872	broad.mit.edu	37	19	49920666	49920668	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:49920666_49920668delCTG	ENST00000447857.3	+	20	1793_1795	c.1588_1590delCTG	c.(1588-1590)del	p.L536del		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	536	Poly-Leu.					integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TGTCCTGGGCctgctgctgctgc	0.650													2	4	---	---	---	---					
TPTEP1	0	broad.mit.edu	37	22	17119421	17119422	+	RNA	INS	-	-	ATTT			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr22:17119421_17119422insATTT	ENST00000426585.1	+	0	280																											TTTATCTTTGCatttatttatt	0.351													5	3	---	---	---	---					
MST4	0	broad.mit.edu	37	X	131207081	131207109	+	Frame_Shift_Del	DEL	ACAGATAAAATGGTGAAGAAACTAATTGA	ACAGATAAAATGGTGAAGAAACTAATTGA	-			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:131207081_131207109delACAGATAAAATGGTGAAGAAACTAATTGA	ENST00000394334.2	+	11	1439_1467	c.1186_1214delACAGATAAAATGGTGAAGAAACTAATTGA	c.(1186-1215)afs	p.TDKMVKKLIE396fs	MST4_ENST00000496850.1_Frame_Shift_Del_p.TDKMVKKLIE334fs|MST4_ENST00000481105.1_Frame_Shift_Del_p.TDKMVKKLIE418fs|MST4_ENST00000354719.6_Frame_Shift_Del_p.TDKMVKKLIE372fs|MST4_ENST00000394335.2_Frame_Shift_Del_p.TDKMVKKLIE319fs	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		396					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TCCCGGCATCACAGATAAAATGGTGAAGAAACTAATTGAAAAATTTCAA	0.358													8	146	---	---	---	---