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
TMPRSS2	7113	broad.mit.edu	37	21	42845326	42845326	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr21:42845326G>A	ENST00000398585.3	-	9	996	c.936C>T	c.(934-936)gtC>gtT	p.V312V	TMPRSS2_ENST00000332149.5_Silent_p.V275V|TMPRSS2_ENST00000458356.1_Silent_p.V275V	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	275	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GGACGTTCTGGACGTGCAGGC	0.692000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								5	13					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226614	149226614	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:149226614C>T	ENST00000407073.1	+	9	2099	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S	MBD5_ENST00000404807.1_Missense_Mutation_p.P368S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	368	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCCTAGTAAACCAGTGAATCA	0.448000													46	122					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799751	159799751	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:159799751C>T	ENST00000289707.5	+	2	285	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	46						integral to membrane		p.R46S(1)		endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTTCCAAGTCCGTGAGGCTAT	0.607000													40	115					0	0	1	0	0
ATP5SL	55101	broad.mit.edu	37	19	41939227	41939227	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:41939227G>A	ENST00000221943.9	-	5	551	c.546C>T	c.(544-546)gcC>gcT	p.A182A	ATP5SL_ENST00000301183.11_Intron|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000595425.1_Silent_p.A155A|ATP5SL_ENST00000592922.2_Silent_p.A155A|ATP5SL_ENST00000590641.2_Silent_p.A161A|ATP5SL_ENST00000589970.1_Intron|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000417807.3_Silent_p.A188A	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	182										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GGGGGCAACCGGCCAGCGAGA	0.677000													10	30					0	0	1	0	0
TJAP1	93643	broad.mit.edu	37	6	43473343	43473343	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:43473343C>T	ENST00000372444.2	+	11	1827	c.1394C>T	c.(1393-1395)cCt>cTt	p.P465L	TJAP1_ENST00000438588.2_Missense_Mutation_p.P475L|TJAP1_ENST00000372445.5_Missense_Mutation_p.P475L|TJAP1_ENST00000372449.1_Missense_Mutation_p.P475L|TJAP1_ENST00000436109.2_Missense_Mutation_p.P465L|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372452.1_Missense_Mutation_p.P465L|TJAP1_ENST00000259751.1_Missense_Mutation_p.P465L	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	475						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCCACAGAACCTGACTCTGGC	0.587000													25	66					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35579907	35579907	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:35579907C>T	ENST00000453357.2	+	9	1338	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	UNC5D_ENST00000416672.1_Missense_Mutation_p.R438C|UNC5D_ENST00000420357.1_Missense_Mutation_p.R366C|UNC5D_ENST00000404895.2_Missense_Mutation_p.R433C|UNC5D_ENST00000287272.2_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	433					apoptosis|axon guidance	integral to membrane	receptor activity	p.R428S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAAAACAGTCCGTCAAGGTCA	0.547000													69	76					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69334599	69334599	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:69334599G>A	ENST00000305363.4	+	4	325	c.261G>A	c.(259-261)gtG>gtA	p.V87V		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	87	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ACAAACAGGTGAAAAATGCAT	0.269000													70	52					0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131600340	131600340	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:131600340G>A	ENST00000436267.2	-	7	859	c.710C>T	c.(709-711)tCc>tTc	p.S237F	CCBL1_ENST00000320665.6_Missense_Mutation_p.S93F|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.S143F			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	143					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CGGCTTCAGGGACACAAACAC	0.522000													43	120					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215891607	215891607	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:215891607G>A	ENST00000272895.7	-	10	1336	c.1117C>T	c.(1117-1119)Cct>Tct	p.P373S	ABCA12_ENST00000389661.4_Missense_Mutation_p.P55S|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	373					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGAATATAAGGACTATTTGCT	0.358000													53	119					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129233370	129233370	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:129233370C>T	ENST00000296266.3	+	26	3471	c.3279C>T	c.(3277-3279)atC>atT	p.I1093I	IFT122_ENST00000507564.1_Silent_p.I1035I|IFT122_ENST00000504021.1_Silent_p.I919I|IFT122_ENST00000440957.2_Silent_p.I833I|IFT122_ENST00000431818.2_Silent_p.I892I|IFT122_ENST00000349441.2_Silent_p.I932I|IFT122_ENST00000348417.2_Silent_p.I1042I|IFT122_ENST00000347300.2_Silent_p.I983I	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1042					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCCTGACCATCCGCGCCAAGC	0.612000													21	65					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751421	19751421	+	Silent	SNP	G	G	A	rs142245280		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr13:19751421G>A	ENST00000400113.3	-	4	806	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	234					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGAGGACACGATCTGCCCAA	0.567000													99	106					0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29194636	29194636	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:29194636G>A	ENST00000240100.2	-	4	1481	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	DUSP4_ENST00000240101.2_Silent_p.F273F	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	364	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		AGCTGAAGACGAACTGCGAGG	0.701000													13	13					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107329560	107329560	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:107329560C>T	ENST00000265715.3	+	9	1288	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	355					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCATCATTTTCCATCGCTGTG	0.448000									Pendred syndrome				104	103					0	0	1	0	0
TMEM199	147007	broad.mit.edu	37	17	26684704	26684704	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:26684704C>T	ENST00000292114.3	+	1	101	c.11C>T	c.(10-12)tCt>tTt	p.S4F	TMEM199_ENST00000509083.1_Missense_Mutation_p.S4F|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000581386.1_3'UTR	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	4						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ATGGCGTCCTCTTTGCTTGCG	0.687000													17	58					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645616	45645616	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:45645616G>A	ENST00000303230.4	-	2	577	c.520C>T	c.(520-522)Cca>Tca	p.P174S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	174						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATAATCCATGGTGTTGTTGTT	0.353000													20	59					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140711972	140711972	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:140711972C>T	ENST00000460843.1	+	24	3483	c.3456C>T	c.(3454-3456)gtC>gtT	p.V1152V		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1152	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCACCTTTGTCTGCGAGTGAG	0.612000													14	33					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214425	140214425	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:140214425C>T	ENST00000525929.1	+	1	457	c.457C>T	c.(457-459)Cca>Tca	p.P153S	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P153S|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1												p.P153S(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCGGTTTCCACTAGAGGG	0.557000													26	54					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40005658	40005658	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:40005658A>C	ENST00000350221.3	-	10	1384	c.1175T>G	c.(1174-1176)aTg>aGg	p.M392R		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	392										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATTTTCCTTCATCATTTTCAG	0.368000													41	89					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57012155	57012155	+	Silent	SNP	T	T	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:57012155T>C	ENST00000370706.4	+	10	1516	c.1272T>C	c.(1270-1272)ttT>ttC	p.F424F	RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000357489.3_Silent_p.F424F|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Silent_p.F424F|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AATCAAAATTTTCATCACTTA	0.358000													26	57					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060702	16060702	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:16060702G>A	ENST00000322107.1	+	1	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCAGCCTAAGGAACAAGGAGC	0.438000													45	79					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3210518	3210518	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:3210518C>T	ENST00000355072.5	+	46	6316	c.6171C>T	c.(6169-6171)tcC>tcT	p.S2057S		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2057					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGCTCTATTCCCTGCTGGACA	0.433000													22	22					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17945879	17945879	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:17945879C>T	ENST00000361221.3	+	10	1040	c.881C>T	c.(880-882)tCg>tTg	p.S294L	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S72L|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S294L|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S72L|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S255L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S255L|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.S52L|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	294					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GTCAGCGTTTCGGACATCAAG	0.657000													6	12					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167133616	167133616	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:167133616G>A	ENST00000303354.6	-	16	3094	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	SCN9A_ENST00000409672.1_Silent_p.F906F|SCN9A_ENST00000409435.1_Silent_p.F917F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.F918F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	917						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACACAATCAGGAAGGAGTGGA	0.493000													68	127					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74094054	74094054	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:74094054G>A	ENST00000607838.1	-	5	557	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	EXOC7_ENST00000335146.7_Missense_Mutation_p.R155C|EXOC7_ENST00000332065.5_Missense_Mutation_p.R155C|EXOC7_ENST00000467929.2_Missense_Mutation_p.R114C|EXOC7_ENST00000405575.4_Missense_Mutation_p.R155C|EXOC7_ENST00000411744.2_Missense_Mutation_p.R155C|EXOC7_ENST00000589210.1_Missense_Mutation_p.R155C	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	155					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			ATCAGGCTGCGAAATTCGGAC	0.582000													20	67					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113593774	113593774	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:113593774C>T	ENST00000263341.2	-	2	243	c.33G>A	c.(31-33)atG>atA	p.M11I	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	11					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	AATAAGCCATCATTTCACTGG	0.473000													17	33					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100553020	100553020	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:100553020C>T	ENST00000319509.7	+	2	1665	c.1665C>T	c.(1663-1665)acC>acT	p.T555T						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCCCCAGCACCTTCTATGGTT	0.567000													10	67					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3210517	3210517	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:3210517C>T	ENST00000355072.5	+	46	6315	c.6170C>T	c.(6169-6171)tCc>tTc	p.S2057F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2057					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGCTCTATTCCCTGCTGGAC	0.428000													22	22					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27276415	27276415	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:27276415C>T	ENST00000360131.4	+	3	520	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	AGBL5_ENST00000323064.8_Missense_Mutation_p.R121C	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	121					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGCTGGGAACGCATTCGAGA	0.502000													19	56					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20691167	20691167	+	Missense_Mutation	SNP	G	G	A	rs151326874	byFrequency	TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:20691167G>A	ENST00000404938.2	+	13	2109	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q	ABCB5_ENST00000406935.1_Missense_Mutation_p.R41Q|ABCB5_ENST00000258738.6_Missense_Mutation_p.R41Q|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_Missense_Mutation_p.R41Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	41	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAGTATGGACGAGATGATGTG	0.438000													110	81					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79371306	79371306	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:79371306G>A	ENST00000264895.6	+	45	6716	c.6274_splice	c.e45-1	p.G2092_splice		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2091					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTTCCAAGGGTCTGTAGCAC	0.433000													25	23					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488902	20488902	+	RNA	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:20488902C>T	ENST00000555186.1	+	0	385					NR_038836.1																						AGGAGTTATTCTTTTTATCTG	0.448000													9	55					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													5	45					0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112289504	112289504	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:112289504C>T	ENST00000492406.1	+	4	630	c.347C>T	c.(346-348)tCc>tTc	p.S116F	SLC35A5_ENST00000460713.1_Intron	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	116						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TATGTCCTGTCCTATCTTCAA	0.318000													21	53					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004113	74004113	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:74004113C>T	ENST00000301607.3	-	22	5426	c.5173G>A	c.(5173-5175)Gag>Aag	p.E1725K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1747K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1725	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTGGTGACCTCCTCCCAGTCA	0.652000													23	52					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136141811	136141811	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:136141811G>A	ENST00000383202.2	-	17	1982	c.1726C>T	c.(1726-1728)Cct>Tct	p.P576S	STAG1_ENST00000236698.5_Missense_Mutation_p.P576S|STAG1_ENST00000434713.2_Missense_Mutation_p.P350S|STAG1_ENST00000536929.1_Missense_Mutation_p.P160S	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	576					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGTAACATAGGAAGTGTAATA	0.308000													4	24					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951009	119951009	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:119951009G>A	ENST00000307142.4	+	4	1275	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R360K|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R360K	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	360						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGCTCAGGAGGAGTGAAAGC	0.438000													52	44					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37035069	37035069	+	Silent	SNP	C	C	T	rs63749816		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:37035069C>T	ENST00000231790.2	+	1	247	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L		NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	11					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TATTCGGCGGCTGGACGAGAC	0.557000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				21	41					0	0	1	0	0
C7orf65	401335	broad.mit.edu	37	7	47698748	47698748	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:47698748G>A	ENST00000408988.2	+	3	413	c.378G>A	c.(376-378)tgG>tgA	p.W126*		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	126										endometrium(1)|lung(2)	3						CTGACCCCTGGAAGGATGCTC	0.547000													22	102					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148767528	148767528	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:148767528G>A	ENST00000316286.9	-	3	2350	c.2078C>T	c.(2077-2079)gCc>gTc	p.A693V	ZNF786_ENST00000451334.3_Missense_Mutation_p.A742V|ZNF786_ENST00000491431.1_Missense_Mutation_p.A779V			Q8N393	ZN786_HUMAN	zinc finger protein 786	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTCCAATCGGCCTCTATCAT	0.507000													72	321					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83704457	83704457	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr16:83704457G>A	ENST00000566620.1	+	9	1454	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	CDH13_ENST00000428848.3_Silent_p.K349K|CDH13_ENST00000268613.10_Silent_p.K435K	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	388	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TTGAAGATAAGGATGACCCCA	0.483000													29	55					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156105739	156105739	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:156105739C>T	ENST00000368300.4	+	6	1196	c.984C>T	c.(982-984)gcC>gcT	p.A328A	LMNA_ENST00000473598.2_Silent_p.A229A|LMNA_ENST00000368297.1_Silent_p.A247A|LMNA_ENST00000368299.3_Silent_p.A328A|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368301.2_Silent_p.A328A|LMNA_ENST00000361308.4_Silent_p.A328A|LMNA_ENST00000347559.2_Silent_p.A328A|LMNA_ENST00000392353.3_Silent_p.A247A|LMNA_ENST00000448611.2_Silent_p.A216A	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	328	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					ACTCACTGGCCCGTGAGCGGG	0.657000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				4	26					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47398693	47398693	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:47398693C>T	ENST00000310638.4	-	10	1280	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	CYP4A11_ENST00000371904.4_Missense_Mutation_p.G418S|CYP4A11_ENST00000371905.1_Missense_Mutation_p.G417S|CYP4A11_ENST00000475477.1_Intron	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	417					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGGTGAAGGCCATAAATGGAG	0.517000													84	215					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34040399	34040399	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:34040399G>A	ENST00000389232.4	+	54	8144	c.8074G>A	c.(8074-8076)Gga>Aga	p.G2692R	RYR3_ENST00000415757.3_Missense_Mutation_p.G2692R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2692	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACCAAAGAGGGAGAAGCTTT	0.547000													15	28					0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86616475	86616475	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:86616475G>A	ENST00000325875.3	+	3	906	c.574G>A	c.(574-576)Ggt>Agt	p.G192S		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	192					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AGTGTTAGGAGGTGAAGTAGA	0.353000													28	64					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121461713	121461713	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:121461713C>T	ENST00000260197.7	+	31	4346	c.4217C>T	c.(4216-4218)tCa>tTa	p.S1406L	SORL1_ENST00000534286.1_Missense_Mutation_p.S316L|SORL1_ENST00000532694.1_Missense_Mutation_p.S252L|SORL1_ENST00000527934.1_Missense_Mutation_p.S21L|SORL1_ENST00000525532.1_Missense_Mutation_p.S350L	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1406					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCTCAGATTCACATATTCTT	0.507000											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	103					0	0	1	0	0
CENPC	1060	broad.mit.edu	37	4	68380275	68380275	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:68380275G>A	ENST00000273853.6	-	8	1211	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_001812.2	NP_001803.2			centromere protein C																		GCCTTTCTTGGTATTGTAATC	0.413000													16	8					0	0	1	0	0
CD79A	973	broad.mit.edu	37	19	42383132	42383132	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:42383132A>C	ENST00000221972.3	+	2	337	c.152A>C	c.(151-153)cAc>cCc	p.H51P	CD79A_ENST00000444740.2_Missense_Mutation_p.H51P	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	51	Ig-like C2-type.				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GAAGACGCCCACTTCCAATGC	0.637000			"""O, S"""		DLBCL								13	34					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735333	55735333	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:55735333G>A	ENST00000312345.2	-	1	657	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ACAATCAACAGAAATGGCACC	0.423000													13	17					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179439596	179439596	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:179439596C>T	ENST00000589042.1	-	326	71487	c.71263G>A	c.(71263-71265)Ggt>Agt	p.G23755S	TTN_ENST00000342175.6_Missense_Mutation_p.G14882S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G21187S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G22114S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14690S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14815S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22114	Fibronectin type-III 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTACACCACCATCGTTCTCA	0.448000													7	31					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34021120	34021120	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:34021120G>A	ENST00000389232.4	+	47	7166	c.7096G>A	c.(7096-7098)Gtg>Atg	p.V2366M	RYR3_ENST00000415757.3_Missense_Mutation_p.V2366M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2366	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCACCTATGGTGCTGTTCTT	0.473000													10	11					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73567455	73567455	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:73567455G>A	ENST00000224721.6	+	58	8511	c.8506G>A	c.(8506-8508)Gag>Aag	p.E2836K	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.E591K	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2831	Cadherin 26.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACACTGCAGGAGGTGCGCGT	0.612000													17	13					0	0	1	0	0
UCK1	83549	broad.mit.edu	37	9	134404537	134404537	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:134404537G>A	ENST00000372215.4	-	4	579	c.486C>T	c.(484-486)tcC>tcT	p.S162S	UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Silent_p.S162S|UCK1_ENST00000372210.3_Silent_p.S153S|UCK1_ENST00000372211.3_Silent_p.S167S	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	162					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GCCTGACGTCGGAGTCGGTGT	0.647000													11	21					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122824207	122824207	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:122824207C>T	ENST00000264811.5	-	8	2462	c.2044G>A	c.(2044-2046)Gat>Aat	p.D682N	TRPC3_ENST00000379645.3_Missense_Mutation_p.D755N|TRPC3_ENST00000513531.1_Missense_Mutation_p.D627N	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	670					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CATTCTACATCACTGTCATCC	0.313000													28	27					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232943052	232943052	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:232943052G>A	ENST00000418460.1	+	1	2410	c.2283G>A	c.(2281-2283)gtG>gtA	p.V761V		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AAGAAGTTGTGAGTCCTGCAA	0.348000													28	77					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63430210	63430210	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr18:63430210G>A	ENST00000536984.2	+	2	826	c.132G>A	c.(130-132)cgG>cgA	p.R44R	CDH7_ENST00000397968.2_Silent_p.R44R|CDH7_ENST00000323011.3_Silent_p.R44R			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	44					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGAGGTCCCGGACCAAGCGCA	0.483000													10	33					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517978	195517978	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:195517978C>T	ENST00000463781.3	-	2	932	c.473G>A	c.(472-474)gGa>gAa	p.G158E	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G158E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	163					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTTTCAGTTCCTGCTGTTGA	0.463000													19	57					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43778232	43778232	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:43778232C>T	ENST00000372476.3	+	12	1966	c.1887C>T	c.(1885-1887)ggC>ggT	p.G629G	TIE1_ENST00000433781.2_Silent_p.G274G	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	629	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCTCCTGGGCCCGGCCTCGC	0.672000													17	37					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906478	13906478	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:13906478C>T	ENST00000279593.3	-	3	992	c.783G>A	c.(781-783)ctG>ctA	p.L261L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	261					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCCTGCCACCAGACTGGGCA	0.537000													45	18					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156593105	156593105	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:156593105C>T	ENST00000302938.4	-	1	170	c.75G>A	c.(73-75)atG>atA	p.M25I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	25						nucleus		p.M25I(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGGTCCCCCATGGAGGTTT	0.408000													26	87					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78848491	78848491	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:78848491C>T	ENST00000545128.1	+	22	3383	c.2845C>T	c.(2845-2847)Cac>Tac	p.H949Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	652					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGGCCCTACCCACTGCACCTC	0.537000													5	53					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137988803	137988803	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:137988803A>C	ENST00000409968.1	+	8	2091	c.1913A>C	c.(1912-1914)gAa>gCa	p.E638A	THSD7B_ENST00000272643.3_Missense_Mutation_p.E638A|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E607A					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGGCTGGGGAAGGTGAGTAA	0.423000													3	11					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46498298	46498298	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:46498298G>A	ENST00000361297.2	+	26	3728	c.3445G>A	c.(3445-3447)Gca>Aca	p.A1149T	MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Missense_Mutation_p.A1056T	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1149	PDZ.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGCCAGTGAGGCAGGGCTTCG	0.572000													16	29					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830149	13830149	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:13830149G>A	ENST00000265104.4	-	37	6339	c.6235C>T	c.(6235-6237)Ctt>Ttt	p.L2079F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2079	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTAAGAAAAGCCCAAATTCA	0.373000									Kartagener syndrome				12	29					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14868761	14868761	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:14868761A>G	ENST00000380881.4	-	3	1030	c.215T>C	c.(214-216)gTt>gCt	p.V72A	FREM1_ENST00000380880.3_Missense_Mutation_p.V72A|FREM1_ENST00000422223.2_Missense_Mutation_p.V72A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	72					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAGTTTCCCAACCCTCTGGGT	0.468000													6	7					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													4	43					0	0	1	0	0
CCNC	892	broad.mit.edu	37	6	99997389	99997389	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:99997389G>A	ENST00000520429.1	-	9	1038	c.593C>T	c.(592-594)gCt>gTt	p.A198V	CCNC_ENST00000523799.1_Missense_Mutation_p.A113V|CCNC_ENST00000520371.1_Missense_Mutation_p.A198V|CCNC_ENST00000369220.4_Missense_Mutation_p.A197V|CCNC_ENST00000518714.1_Missense_Mutation_p.A198V|CCNC_ENST00000523985.1_Missense_Mutation_p.A113V	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	198					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding						all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		CATACCTAAAGCTATCATGAA	0.318000													5	24					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8612264	8612264	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:8612264A>C	ENST00000382073.3	+	3	379	c.193A>C	c.(193-195)Acc>Ccc	p.T65P		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	65					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TTCAAGTCTCACCTGCTTCAG	0.393000													45	32					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43498698	43498698	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:43498698C>T	ENST00000300215.3	-	10	1995	c.1538G>A	c.(1537-1539)aGc>aAc	p.S513N	EPB42_ENST00000441366.2_Missense_Mutation_p.S483N|EPB42_ENST00000540029.1_Missense_Mutation_p.S405N			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	483					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GGGTAGGGAGCTGGGTGCTTT	0.552000													36	104					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40733211	40733211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr20:40733211G>A	ENST00000373198.3	-	26	3839	c.3604C>T	c.(3604-3606)Cag>Tag	p.Q1202*	PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Q1189*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Q1190*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Q1183*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Q1170*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Q1180*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Q1179*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1180	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.Q1202K(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTCATACCTGAAATTCATCT	0.443000													27	48					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516745	140516745	+	Missense_Mutation	SNP	C	C	T	rs61747444		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:140516745C>T	ENST00000231134.5	+	1	1946	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		577	Cadherin 6.				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)			GCTGGTGCCCCGGGCGGCCGA	0.701000													15	62					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36707463	36707463	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:36707463G>A	ENST00000264659.7	-	15	3114	c.2890C>T	c.(2890-2892)Cac>Tac	p.H964Y	SRCIN1_ENST00000578925.1_Missense_Mutation_p.H998Y|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	836					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGGGGCTTGTGATCTGGAGTG	0.667000													9	14					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129233371	129233371	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:129233371C>T	ENST00000296266.3	+	26	3472	c.3280C>T	c.(3280-3282)Cgc>Tgc	p.R1094C	IFT122_ENST00000507564.1_Missense_Mutation_p.R1036C|IFT122_ENST00000504021.1_Missense_Mutation_p.R920C|IFT122_ENST00000440957.2_Missense_Mutation_p.R834C|IFT122_ENST00000431818.2_Missense_Mutation_p.R893C|IFT122_ENST00000349441.2_Missense_Mutation_p.R933C|IFT122_ENST00000348417.2_Missense_Mutation_p.R1043C|IFT122_ENST00000347300.2_Missense_Mutation_p.R984C	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1043					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCTGACCATCCGCGCCAAGCC	0.612000													19	67					0	0	1	0	0
TRAM2	9697	broad.mit.edu	37	6	52373036	52373036	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:52373036C>T	ENST00000182527.3	-	6	550	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	184	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					ACTCACCTTCCGTACCTTCTG	0.537000													8	19					0	0	1	0	0
LOC101927755	101927755	broad.mit.edu	37	17	58064912	58064912	+	RNA	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:58064912G>A	ENST00000586209.1	+	0	158																											TGTCAGATGTGGAGGCAAAGG	0.403000													15	48					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179659832	179659832	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:179659832G>A	ENST00000444136.1	+	18	3112	c.2860_splice	c.e18-1	p.V954_splice	TDRD5_ENST00000294848.8_Splice_Site_p.V900_splice|TDRD5_ENST00000367614.1_Splice_Site_p.V900_splice	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	900					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTTTTCCAGTGGAAAGCTCAC	0.403000													23	67					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325501	57325501	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:57325501C>T	ENST00000326441.9	-	10	4672	c.4309G>A	c.(4309-4311)Gga>Aga	p.G1437R	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1313R|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G1311R|PEG3_ENST00000423103.2_Missense_Mutation_p.G1437R|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1437	4 X 5 AA repeat of P-X-G-E-A.|Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTGGCTGTCCAGCCTCTCCA	0.587000													22	63					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140901268	140901268	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:140901268C>T	ENST00000371372.1	+	16	2169	c.2024C>T	c.(2023-2025)tCg>tTg	p.S675L	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S676L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S675L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S676L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.S675L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	675					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGGATCGAATCGCAAGGCGGC	0.572000													7	18					0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21083647	21083647	+	Missense_Mutation	SNP	C	C	T	rs112277818	byFrequency	TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr18:21083647C>T	ENST00000269221.3	+	1	175	c.65C>T	c.(64-66)cCt>cTt	p.P22L	C18orf8_ENST00000590868.1_Missense_Mutation_p.P22L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	22										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGGCGAACCCTGTCAACTGC	0.746000													6	21					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3008918	3008918	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:3008918C>T	ENST00000520002.1	-	41	6590		c.e41+1		CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000523387.1_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTTCACTTACCATAGCCGAT	0.428000													4	16					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565318	58565318	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:58565318C>T	ENST00000282326.1	+	6	1373	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	376					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCTCGCAGCCCCAAAAGACC	0.677000													6	9					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283110	69283110	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chrX:69283110G>A	ENST00000338352.2	+	1	770	c.736G>A	c.(736-738)Ggg>Agg	p.G246R		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	246	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CTTGATCATCGGGGAGGAGTA	0.647000													7	5					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66357991	66357991	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:66357991G>A	ENST00000333861.3	-	1	2563	c.2496C>T	c.(2494-2496)gcC>gcT	p.A832A		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	832										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GATCCTTCAGGGCCGAGACCA	0.582000													52	71					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130292883	130292883	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:130292883G>A	ENST00000358511.6	+	7	3092	c.3061G>A	c.(3061-3063)Gaa>Aaa	p.E1021K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E1021K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1021	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAAAATGAAGGAATTTCTGGC	0.418000													6	21					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30926026	30926026	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr21:30926026C>T	ENST00000399907.1	-	17	3019		c.e17-1		GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000309434.7_Splice_Site|GRIK1_ENST00000399914.1_Intron|GRIK1_ENST00000399909.1_Splice_Site|GRIK1_ENST00000399913.1_Intron	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1						central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AACAAAAAGCCTTGCATGCAA	0.318000													18	48					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860502	13860502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:13860502C>T	ENST00000285018.4	-	4	1293	c.989G>A	c.(988-990)tGg>tAg	p.W330*		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	330					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ATAGCAGCACCAGTGGAACTT	0.612000													13	28					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629430	179629430	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:179629430G>A	ENST00000589042.1	-	42	10036	c.9812C>T	c.(9811-9813)tCc>tTc	p.S3271F	TTN_ENST00000342175.6_Missense_Mutation_p.S3225F|TTN_ENST00000360870.5_Missense_Mutation_p.S3271F|TTN_ENST00000342992.6_Missense_Mutation_p.S3271F|TTN_ENST00000591111.1_Missense_Mutation_p.S3271F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S3225F|TTN_ENST00000359218.5_Missense_Mutation_p.S3225F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3000	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGTACCAGGAAATTTTGGG	0.527000													26	92					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18923163	18923163	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:18923163C>T	ENST00000317977.6	+	13	2029	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	SLC5A10_ENST00000395647.2_Silent_p.F532F|SLC5A10_ENST00000395642.1_Silent_p.F486F|SLC5A10_ENST00000417251.2_Silent_p.F480F|SLC5A10_ENST00000395643.2_Silent_p.F489F|SLC5A10_ENST00000395645.3_Silent_p.F516F			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	516					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						ACCTGCACTTCGCTGTCGCCC	0.657000													4	13					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998845	173998845	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:173998845C>T	ENST00000457714.1	+	7	2653	c.2224C>T	c.(2224-2226)Cat>Tat	p.H742Y	NLGN1_ENST00000545397.1_Missense_Mutation_p.H742Y|NLGN1_ENST00000401917.3_Missense_Mutation_p.H782Y|NLGN1_ENST00000361589.4_Missense_Mutation_p.H742Y	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	759					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGATTTGGATCATGAATGTGA	0.488000													9	50					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2815309	2815309	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:2815309G>A	ENST00000520002.1	-	64	10281	c.9726C>T	c.(9724-9726)ttC>ttT	p.F3242F	CSMD1_ENST00000602723.1_Silent_p.F3065F|CSMD1_ENST00000602557.1_Silent_p.F3242F|CSMD1_ENST00000542608.1_Silent_p.F3064F|CSMD1_ENST00000537824.1_Silent_p.F3241F|CSMD1_ENST00000400186.3_Silent_p.F3065F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3242	Sushi 27.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCTGCACCTGAAAAAAACCG	0.453000													8	5					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	2255796	2255796	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:2255796G>A	ENST00000406869.1	-	8	1362	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	MAD1L1_ENST00000265854.7_Silent_p.L269L|MAD1L1_ENST00000402746.1_Silent_p.L177L|MAD1L1_ENST00000399654.2_Silent_p.L269L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	269					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCTCACCGCAGGTGCGCGCTC	0.642000													65	45					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347448	89347448	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr16:89347448G>A	ENST00000301030.4	-	9	5962	c.5502C>T	c.(5500-5502)ccC>ccT	p.P1834P	ANKRD11_ENST00000378330.2_Silent_p.P1834P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1834	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCGGGGGCAGGGGCGCCCTGT	0.622000													17	36					0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88952473	88952473	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr16:88952473G>A	ENST00000268679.4	-	6	1185	c.789C>T	c.(787-789)gcC>gcT	p.A263A	RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000448839.1_Silent_p.A187A|CBFA2T3_ENST00000436887.2_Silent_p.A238A|CBFA2T3_ENST00000360302.2_Silent_p.A177A|CBFA2T3_ENST00000327483.5_Silent_p.A177A	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	263	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCTCATGCTGGGCCAAGTACT	0.667000			T	RUNX1	AML								3	4					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35555305	35555305	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:35555305C>T	ENST00000455600.1	+	3	2832	c.2263C>T	c.(2263-2265)Ccc>Tcc	p.P755S		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	755						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCATCCACTCCCCGAGCCAC	0.672000													30	26					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96068343	96068343	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:96068343C>T	ENST00000260766.3	+	27	6524	c.5890C>T	c.(5890-5892)Cga>Tga	p.R1964*	PLCE1_ENST00000371380.2_Nonsense_Mutation_p.R1964*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.R1656*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.R1656*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1964					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCCAGGATATCGACATCTTCA	0.403000													31	50					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2050499	2050499	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:2050499C>T	ENST00000262113.4	+	21	2803	c.2662C>T	c.(2662-2664)Cgg>Tgg	p.R888W	MYOM2_ENST00000523438.1_Missense_Mutation_p.R313W	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	888	Fibronectin type-III 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTCAGGGTCCGGGCAGTCAA	0.502000													21	19					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817382	45817382	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:45817382C>T	ENST00000358525.4	-	4	568	c.453G>A	c.(451-453)agG>agA	p.R151R	SLC6A20_ENST00000456124.2_Silent_p.R151R|SLC6A20_ENST00000353278.4_Silent_p.R151R	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	151					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TGAGGGTTTTCCTGTACCAGA	0.607000													30	84					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50912809	50912809	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:50912809C>T	ENST00000440232.2	+	17	2093	c.2040C>T	c.(2038-2040)ccC>ccT	p.P680P	POLD1_ENST00000595904.1_Silent_p.P706P|POLD1_ENST00000599857.1_Silent_p.P680P	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	680					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AGACAGACCCCCTCCGGCGCC	0.667000								DNA polymerases (catalytic subunits)					33	57					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	175998270	175998270	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:175998270C>T	ENST00000510636.1	+	6	646	c.372C>T	c.(370-372)ttC>ttT	p.F124F	CDHR2_ENST00000261944.5_Silent_p.F124F|CDHR2_ENST00000506348.1_Silent_p.F124F	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	124	Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CACCCGTTTTCCAGAACACCG	0.522000													6	10					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76796030	76796030	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:76796030C>T	ENST00000278559.3	+	2	287	c.98C>T	c.(97-99)cCc>cTc	p.P33L	CAPN5_ENST00000531028.1_Missense_Mutation_p.P33L|CAPN5_ENST00000456580.2_Missense_Mutation_p.P33L|CAPN5_ENST00000529629.1_Missense_Mutation_p.P33L	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	33	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CCCCTCTTCCCCGCCACTGAC	0.632000													8	11					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139426	178139426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:178139426G>A	ENST00000335815.2	-	5	1650	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	485					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TGCATTCTCTGATGTTGAATG	0.378000													38	100					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599661	136599661	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:136599661C>G	ENST00000531224.1	-	4	610	c.358G>C	c.(358-360)Gtt>Ctt	p.V120L	BCLAF1_ENST00000353331.4_Missense_Mutation_p.V118L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.V120L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.V118L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.V118L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.V120L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	120					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAGAAGAAACGGATCTTCTT	0.453000													31	173					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12983362	12983362	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:12983362G>A	ENST00000273221.4	-	2	285	c.69C>T	c.(67-69)gtC>gtT	p.V23V	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	23					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTCGCCCTCGACGCTGCAGA	0.667000													4	5					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86286780	86286780	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:86286780G>A	ENST00000394518.2	+	36	8211	c.8116G>A	c.(8116-8118)Gag>Aag	p.E2706K	AKAP13_ENST00000394510.2_Missense_Mutation_p.E951K|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2710K|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2706	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAGTCCTGAGGAGCCCCCCTC	0.507000													71	86					0	0	1	0	0
HSPB8	26353	broad.mit.edu	37	12	119617332	119617332	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:119617332G>A	ENST00000281938.2	+	1	886	c.215G>A	c.(214-216)gGc>gAc	p.G72D		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	72					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCCCCGGGGCCCCACTGCC	0.682000													48	33					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234366951	234366951	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:234366951G>A	ENST00000264057.2	+	22	2614	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N	DGKD_ENST00000409813.3_Missense_Mutation_p.D824N	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	868					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCCATCATTCGATGACAAGAT	0.597000													8	25					0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33466948	33466948	+	Silent	SNP	G	G	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:33466948G>T	ENST00000442241.4	-	3	339	c.300C>A	c.(298-300)gtC>gtA	p.V100V	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000360831.5_Silent_p.V100V	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	100						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				TCACAGCCCGGACTCTGAAGA	0.567000													14	33					3.27435e-08	3.27435e-08	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48699302	48699302	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:48699302G>A	ENST00000544264.1	-	1	1046	c.766C>T	c.(766-768)Cct>Tct	p.P256S	CELSR3_ENST00000164024.4_Missense_Mutation_p.P256S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	256					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTGATGCAGGAGCTGTCCTC	0.692000													22	49					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153085289	153085289	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:153085289C>T	ENST00000285900.5	+	11	1828	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	GRIA1_ENST00000340592.5_Silent_p.I495I|GRIA1_ENST00000518142.1_Silent_p.I415I|GRIA1_ENST00000521843.2_Silent_p.I426I|GRIA1_ENST00000448073.4_Silent_p.I505I|GRIA1_ENST00000518783.1_Silent_p.I505I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	495					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.I495fs*19(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTTAACTATCACTTTGGTCC	0.383000													16	42					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481683	95481683	+	RNA	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:95481683G>A	ENST00000432432.2	-	0	1677					NR_040113.1																						TCTGAGTATGGCAATATCTGC	0.294000													51	107					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56229951	56229951	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:56229951C>T	ENST00000279791.1	-	1	926	c.927G>A	c.(925-927)agG>agA	p.R309R		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AGTTTTACTGCCTCACATATG	0.368000													28	30					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122748207	122748207	+	Missense_Mutation	SNP	G	G	A	rs150472752		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:122748207G>A	ENST00000267199.4	-	3	320	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	VPS33A_ENST00000542310.1_5'UTR|VPS33A_ENST00000451053.2_Missense_Mutation_p.R70C|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R70C	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	70					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.R70C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GCCGGCAAACGATTTCCTTTA	0.373000													21	17					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182835669	182835669	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:182835669T>C	ENST00000367549.3	+	13	1533	c.1423T>C	c.(1423-1425)Ttt>Ctt	p.F475L		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	475	Helicase ATP-binding.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CAGCGTTCGATTTGAGTCTAT	0.428000													52	121					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700446	136700446	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:136700446G>A	ENST00000445907.2	+	3	1362	c.834G>A	c.(832-834)gaG>gaA	p.E278E	AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Silent_p.E278E|CHRM2_ENST00000402486.3_Silent_p.E278E|CHRM2_ENST00000320658.5_Silent_p.E278E|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Silent_p.E278E|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Silent_p.E278E	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	278					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TTCAGGGAGAGGAGAAGGAGA	0.488000													18	61					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50721178	50721178	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr22:50721178G>A	ENST00000449103.1	-	18	3089	c.2949C>T	c.(2947-2949)ccC>ccT	p.P983P	PLXNB2_ENST00000359337.4_Silent_p.P983P			O15031	PLXB2_HUMAN	plexin B2	983	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGCAGTACGGGGTTTTCGC	0.682000													5	8					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41703702	41703702	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:41703702G>A	ENST00000310054.4	+	3	578	c.362G>A	c.(361-363)gGg>gAg	p.G121E	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	121					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						TTCTCCAACGGGGAGCGGTGG	0.582000													12	38					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				57	45					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136545942	136545942	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:136545942C>T	ENST00000264162.2	-	17	5746	c.5736G>A	c.(5734-5736)ggG>ggA	p.G1912G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1912					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)		GTTGTGTTTTCCCTTGCTTAG	0.448000													78	161					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107491668	107491668	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:107491668C>T	ENST00000415149.2	+	11	1427	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	BBX_ENST00000406780.1_Missense_Mutation_p.S367F|BBX_ENST00000325805.8_Missense_Mutation_p.S367F|BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.S367F	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TTAAGAGATTCTAAGGAATTG	0.313000													27	65					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53558273	53558273	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:53558273G>A	ENST00000371494.4	-	7	1111	c.984C>T	c.(982-984)atC>atT	p.I328I		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	328						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GGATGCCACGGATGAAGACGA	0.632000													12	45					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699301	48699301	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:48699301G>A	ENST00000544264.1	-	1	1047	c.767C>T	c.(766-768)cCt>cTt	p.P256L	CELSR3_ENST00000164024.4_Missense_Mutation_p.P256L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	256					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACCTGATGCAGGAGCTGTCCT	0.697000													22	49					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95830017	95830017	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr13:95830017G>A	ENST00000376887.4	-	13	1785	c.1671C>T	c.(1669-1671)ctC>ctT	p.L557L	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.L482L|ABCC4_ENST00000431522.1_Silent_p.L557L|ABCC4_ENST00000412704.1_Silent_p.L557L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	557	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GATCGTCCAGGAGATAGATGT	0.438000													28	40					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100975447	100975447	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:100975447G>A	ENST00000375066.5	-	7	1519	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	TBC1D2_ENST00000375064.1_Silent_p.H476H|TBC1D2_ENST00000342112.5_Silent_p.H258H|TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000375063.1_Silent_p.H16H	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	476						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TTGTGACCTGGTGGATCTCGG	0.532000													17	44					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62479785	62479785	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:62479785G>A	ENST00000541428.1	-	17	1315	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V	ASPH_ENST00000379454.4_Silent_p.V414V	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	414					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGTCTGCAGGGACATCAGGTA	0.483000													22	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179439595	179439595	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:179439595C>T	ENST00000589042.1	-	326	71488	c.71264G>A	c.(71263-71265)gGt>gAt	p.G23755D	TTN_ENST00000342175.6_Missense_Mutation_p.G14882D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G21187D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G22114D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14690D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14815D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22114	Fibronectin type-III 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTACACCACCATCGTTCTC	0.453000													7	31					0	0	1	0	0
CYTH2	9266	broad.mit.edu	37	19	48981728	48981728	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:48981728G>A	ENST00000427476.1	+	11	1294	c.994G>A	c.(994-996)Ggg>Agg	p.G332R	CYTH2_ENST00000452733.2_Missense_Mutation_p.G331R	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	332	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CAACAACAAGGGGCAGCTCAT	0.612000													20	55					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861712	52861712	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:52861712C>T	ENST00000343457.3	-	4	1482	c.1476G>A	c.(1474-1476)ggG>ggA	p.G492G		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	492						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CGGTGTTGTCCCCGCACTGTC	0.562000													53	43					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682860	47682860	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:47682860G>A	ENST00000283303.2	+	6	2137	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	GPR115_ENST00000371220.1_Missense_Mutation_p.E684K|GPR115_ENST00000327753.3_Missense_Mutation_p.E627K	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	627					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CACTCTCATAGAAGGCACTTC	0.458000													36	69					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31476420	31476420	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr16:31476420C>T	ENST00000457010.2	+	4	2777	c.2076C>T	c.(2074-2076)gcC>gcT	p.A692A	ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000412665.2_Intron	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	543							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGCCCTAGCCCTGGGACCCA	0.617000													16	35					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351143	40351143	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:40351143G>A	ENST00000310169.2	+	4	749	c.610G>A	c.(610-612)Gag>Aag	p.E204K		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	204					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TGTGGAATGGGAGGTCCATGG	0.517000													140	110					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													8	113					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566133	136566133	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:136566133C>T	ENST00000264162.2	-	8	3794	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1262	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)		CCATACTCTTCCTTGATCCAG	0.542000													39	77					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71247495	71247495	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:71247495C>T	ENST00000318789.4	-	6	563	c.38G>A	c.(37-39)gGt>gAt	p.G13D	FOXP1_ENST00000498215.1_Missense_Mutation_p.G13D|FOXP1_ENST00000475937.1_Missense_Mutation_p.G13D|FOXP1_ENST00000493089.1_Missense_Mutation_p.G13D|FOXP1_ENST00000318779.3_Missense_Mutation_p.G13D|FOXP1_ENST00000468577.1_Missense_Mutation_p.G13D|FOXP1_ENST00000484350.1_Missense_Mutation_p.G13D	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	13					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GATGGCTGAACCGTTACTTTT	0.552000			T	PAX5	ALL								26	105					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151112559	151112559	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:151112559G>A	ENST00000341697.3	-	4	1817	c.126C>T	c.(124-126)tcC>tcT	p.S42S				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	42	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGATAATGGGGAAGTACCTT	0.527000													11	17					0	0	1	0	0
ATPAF2	91647	broad.mit.edu	37	17	17921914	17921914	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:17921914G>A	ENST00000474627.3	-	8	973	c.819C>T	c.(817-819)atC>atT	p.I273I	ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	273					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					AGCAGAGATGGATGAAGAGGG	0.612000													33	63					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802576	185802576	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:185802576G>A	ENST00000302277.6	+	4	3047	c.2453G>A	c.(2452-2454)aGa>aAa	p.R818K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	818						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAAGAGGCAGATTCCACCCC	0.388000													14	37					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17085028	17085028	+	RNA	SNP	G	G	A	rs2761534		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:17085028G>A	ENST00000455405.2	-	0	160																		p.R483C(1)|p.R452C(1)									AGCTTGGAACGACGCTGATCC	0.607000													4	51					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49445878	49445878	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:49445878G>A	ENST00000301067.7	-	10	1587	c.1588C>T	c.(1588-1590)Cct>Tct	p.P530S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCAAGTGCAGGAGATGGGGGT	0.587000													34	30					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43986164	43986164	+	Silent	SNP	C	C	T	rs139717285		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr13:43986164C>T	ENST00000261488.6	-	5	673	c.96G>A	c.(94-96)gcG>gcA	p.A32A	ENOX1_ENST00000412891.1_Silent_p.A32A	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	32					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TCGTGTCTATCGCTATACTCC	0.493000													9	32					0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55208508	55208508	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr20:55208508G>A	ENST00000201031.2	+	4	929	c.686G>A	c.(685-687)gGa>gAa	p.G229E	TFAP2C_ENST00000544508.1_Missense_Mutation_p.G60E	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	229					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TCAGTCCCTGGAAGATTGTCG	0.532000													23	73					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135932207	135932207	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:135932207G>A	ENST00000372097.5	+	10	1628	c.1305G>A	c.(1303-1305)cgG>cgA	p.R435R	GTF3C5_ENST00000372108.5_Silent_p.R442R|GTF3C5_ENST00000372099.6_Silent_p.R426R|GTF3C5_ENST00000342018.8_Silent_p.R373R	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	435						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GCACAGAACGGGATGGGTGGT	0.607000													16	49					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109867206	109867206	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:109867206A>C	ENST00000424296.2	-	26	3165	c.3089T>G	c.(3088-3090)cTa>cGa	p.L1030R	AK9_ENST00000355283.1_Missense_Mutation_p.L109R|AK9_ENST00000341338.6_Missense_Mutation_p.L109R	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TTTGAGTAGTAGTTTTTCTTG	0.418000													15	48					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712277	121712277	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:121712277C>T	ENST00000273691.3	-	6	1292	c.1187G>A	c.(1186-1188)aGg>aAg	p.R396K	ILDR1_ENST00000344209.5_Missense_Mutation_p.R440K|ILDR1_ENST00000393631.1_Missense_Mutation_p.R351K|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.R408K	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	440						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ACAGCGGCTCCTGAAAGGAGG	0.667000													9	16					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985027	140985027	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chrX:140985027C>T	ENST00000298296.1	+	7	1483	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	MAGEC3_ENST00000443323.2_Missense_Mutation_p.P117S|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P197S|MAGEC3_ENST00000544766.1_Missense_Mutation_p.P197S|MAGEC3_ENST00000536088.1_Missense_Mutation_p.P197S	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	495	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGACTATTTTCCCATGATCTT	0.433000													48	33					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48379519	48379519	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:48379519C>T	ENST00000380518.3	-	25	1836	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R	COL2A1_ENST00000337299.6_Missense_Mutation_p.G489R|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	558	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACCCGGGCTCCAGGAAGGCCA	0.657000													17	15					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47712109	47712109	+	Missense_Mutation	SNP	G	G	A	rs113540514	byFrequency	TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:47712109G>A	ENST00000525123.1	-	10	1435	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	AGBL2_ENST00000528244.1_Missense_Mutation_p.P346S|AGBL2_ENST00000357610.3_Missense_Mutation_p.P384S|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.P384S	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	384					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TGGTCATATGGAAACTGAATG	0.458000													36	91					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102643649	102643649	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:102643649C>T	ENST00000279441.4	-	8	1191	c.1155G>A	c.(1153-1155)agG>agA	p.R385R		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	385					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CATCAATTTTCCTTATGGTTG	0.413000													49	55					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748665	96748665	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:96748665C>T	ENST00000260682.6	+	9	1365	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	451					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCCTGACCTCCATTTTACAGA	0.478000													33	41					0	0	1	0	0
LGALS17A	400696	broad.mit.edu	37	19	40172147	40172147	+	RNA	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:40172147C>T	ENST00000412609.1	+	0	136																											TCATCCCTTTCGTGTGAGTAC	0.517000													15	21					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090539	9090539	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:9090539C>T	ENST00000397910.4	-	1	1479	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	426	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						GTTTCCTTTCCACTCGTGGAG	0.512000													17	62					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69005918	69005918	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:69005918G>A	ENST00000288368.4	+	21	2606	c.2329G>A	c.(2329-2331)Gga>Aga	p.G777R	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	777					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAAGCCCCCTGGAGATGAAGC	0.413000													59	70					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156510631	156510631	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:156510631C>G	ENST00000361170.2	-	23	2618	c.2608G>C	c.(2608-2610)Gct>Cct	p.A870P		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	870					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTGCCTCAGCCAAGAAGTCT	0.537000													27	45					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84373227	84373227	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:84373227G>A	ENST00000286744.5	+	3	380	c.156G>A	c.(154-156)ggG>ggA	p.G52G	ADAMTSL3_ENST00000567476.1_Silent_p.G52G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	52						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACACAACAGGGGAGCAGTTCC	0.463000													104	113					0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89761464	89761464	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr16:89761464C>T	ENST00000331006.8	+	10	2518	c.777C>T	c.(775-777)taC>taT	p.Y259Y	CDK10_ENST00000505473.1_Silent_p.Y235Y|CDK10_ENST00000353379.7_Silent_p.Y306Y			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	306	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGTTCATGTACGACCCTAAGA	0.617000													13	18					0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123351825	123351825	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:123351825G>A	ENST00000267202.2	-	4	1077	c.696C>T	c.(694-696)gcC>gcT	p.A232A		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	232	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GGTACGGCACGGCCTGTCCCG	0.687000													12	3					0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	89982131	89982131	+	Splice_Site	SNP	A	A	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:89982131A>G	ENST00000222511.6	+	2	101	c.33_splice	c.e2-1	p.Y12_splice	GTPBP10_ENST00000257659.8_Splice_Site_p.Y12_splice	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	12					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TTTTTTAAGTATGGAAATTTC	0.368000											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	16					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79166327	79166327	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:79166327G>A	ENST00000269392.4	-	20	2752	c.2505C>T	c.(2503-2505)gcC>gcT	p.A835A	AZI1_ENST00000374782.3_Silent_p.A796A|AZI1_ENST00000575907.1_Silent_p.A799A|AZI1_ENST00000450824.2_Silent_p.A832A	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	835					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGCCCTCAGGGCTCGGGTCA	0.701000													8	15					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6691339	6691339	+	Silent	SNP	A	A	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:6691339A>G	ENST00000309577.6	-	29	4726	c.4563T>C	c.(4561-4563)ctT>ctC	p.L1521L	CHD4_ENST00000544040.1_Silent_p.L1486L|CHD4_ENST00000544484.1_Silent_p.L1518L|CHD4_ENST00000357008.2_Silent_p.L1493L|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1493					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CAATTCTAGTAAGGACATGCT	0.542000													29	18					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092136	1092136	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:1092136G>A	ENST00000441003.2	+	30	3982	c.3955G>A	c.(3955-3957)Gac>Aac	p.D1319N	MUC2_ENST00000359061.5_Missense_Mutation_p.D1320N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1319						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGTGGCAGCGACGACGGTGA	0.587000													6	17					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185340707	185340707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:185340707G>A	ENST00000393593.3	-	3	310	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	35					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGGGATCTGAAAAATCTTC	0.423000													25	22					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111483	142111483	+	RNA	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:142111483C>T	ENST00000390378.1	-	0	252																											AACTGGTGACCTGAGAATTGA	0.522000													30	104					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9318777	9318777	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:9318777C>T	ENST00000261336.2	-	18	2157	c.2129G>A	c.(2128-2130)aGa>aAa	p.R710K	PZP_ENST00000381997.2_Missense_Mutation_p.R579K|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AACATATGGTCTCTCTACTAC	0.388000													36	24					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506734	37506734	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:37506734G>A	ENST00000374660.1	+	39	3483	c.3384G>A	c.(3382-3384)gtG>gtA	p.V1128V	ANKRD30A_ENST00000602533.1_Silent_p.V1009V|ANKRD30A_ENST00000361713.1_Silent_p.V1009V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1103						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGTTAGAAGTGAAACAACAAC	0.313000													16	16					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49724853	49724853	+	Silent	SNP	C	C	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:49724853C>G	ENST00000449682.2	-	4	775	c.414G>C	c.(412-414)acG>acC	p.T138T	MST1_ENST00000383728.3_Silent_p.T63T|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000545762.1_Intron	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	124	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACCCACGGTCGTGGCCATGG	0.607000													16	52					0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30064320	30064320	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr20:30064320C>T	ENST00000201979.2	+	2	365	c.72C>T	c.(70-72)tcC>tcT	p.S24S	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	24					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCCCCTGTCCCCACGGGGCC	0.647000													21	72					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351246	10351246	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:10351246G>A	ENST00000255381.2	-	34	4964	c.4854C>T	c.(4852-4854)atC>atT	p.I1618I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1618					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTTCTTCTTGATCCTCAGAG	0.463000													34	104					0	0	1	0	0
C3orf22	152065	broad.mit.edu	37	3	126268892	126268892	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:126268892G>A	ENST00000318225.2	-	4	623	c.245C>T	c.(244-246)tCt>tTt	p.S82F		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	82										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		GCAGGAGCCAGACGGTGATGT	0.612000													9	37					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459298	141459298	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:141459298C>T	ENST00000389484.3	-	40	7390	c.6419G>A	c.(6418-6420)aGa>aAa	p.R2140K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2140					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCTTTCTCTCTTACTCGGTT	0.358000										TSP Lung(27;0.18)			18	43					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124340651	124340651	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:124340651C>T	ENST00000287394.5	-	25	3754	c.3647G>A	c.(3646-3648)gGa>gAa	p.G1216E	ATAD2_ENST00000521903.1_Missense_Mutation_p.G534E	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCTGTGTTTCCGGTCTCATT	0.373000													23	109					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207697352	207697352	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:207697352G>A	ENST00000367049.4	+	5	884	c.884G>A	c.(883-885)aGg>aAg	p.R295K	CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Missense_Mutation_p.R295K|CR1_ENST00000400960.2_Missense_Mutation_p.R295K|CR1_ENST00000367053.1_Missense_Mutation_p.R295K|CR1_ENST00000367051.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	295	Sushi 4.|Sushi 5.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCTGCTCCAGGGGTGAGTCT	0.567000													20	54					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553562	106553562	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:106553562C>T	ENST00000369096.4	+	5	1761	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	PRDM1_ENST00000369089.3_Silent_p.A375A|PRDM1_ENST00000369091.2_Silent_p.A473A	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	509					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGGACAAGGCCTGTAGCCCCA	0.672000			"""D, N, Mis, F, S"""		DLBCL								19	38					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10394278	10394278	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:10394278C>T	ENST00000264832.3	+	3	778	c.453C>T	c.(451-453)ctC>ctT	p.L151L	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	151	Ig-like C2-type 2.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	TGGTGCTGCTCCGTGGGGAGA	0.652000													11	23					0	0	1	0	0
UGT1A9	54600	broad.mit.edu	37	2	234580650	234580650	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:234580650G>A	ENST00000354728.4	+	1	152	c.70G>A	c.(70-72)Gag>Aag	p.E24K	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		TGGCTTTGCCGAGGCAGGGAA	0.582000													11	47					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278332	36278332	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:36278332C>T	ENST00000007510.4	+	21	3009	c.2865C>T	c.(2863-2865)tcC>tcT	p.S955S	ARHGAP33_ENST00000314737.5_Silent_p.S794S|ARHGAP33_ENST00000378944.5_Silent_p.S819S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	955					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTCCCAACTCCCTAGCACACC	0.682000													6	12					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99917309	99917309	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chrX:99917309G>A	ENST00000373004.3	+	4	728	c.300G>A	c.(298-300)agG>agA	p.R100R		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	100	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGATTGGAAGGAGGTCGGTGC	0.542000													31	27					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191069	66191069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:66191069C>T	ENST00000311034.2	+	6	1005	c.829C>T	c.(829-831)Cag>Tag	p.Q277*		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	277					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGGAGATATTCAGGCAGAGAT	0.532000													21	34					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100489719	100489719	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:100489719C>T	ENST00000471714.1	-	61	4691	c.4582G>A	c.(4582-4584)Gag>Aag	p.E1528K	ABI3BP_ENST00000284322.5_Missense_Mutation_p.E826K|ABI3BP_ENST00000383691.4_Missense_Mutation_p.E780K			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	826						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						GTGGCCTCCTCTTTGGGGAAC	0.557000													26	61					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122835992	122835992	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:122835992G>A	ENST00000264811.5	-	3	1483	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	TRPC3_ENST00000379645.3_Silent_p.V428V|TRPC3_ENST00000513531.1_Intron	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	343					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCAGGGCCACGACCAGCACAA	0.537000													31	13					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21325643	21325643	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:21325643G>A	ENST00000256958.2	+	3	240	c.144G>A	c.(142-144)atG>atA	p.M48I		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	48					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CAATTATTATGAAAAGTTCCA	0.348000													44	32					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113243573	113243573	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:113243573C>T	ENST00000401783.2	-	12	2650	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K	SVEP1_ENST00000374461.1_Missense_Mutation_p.E749K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E749K|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.E772K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	772	Sushi 4.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACGCCATCTTCATAAGCACAA	0.383000													6	14					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896870	227896870	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:227896870G>A	ENST00000396625.3	-	39	3907	c.3700C>T	c.(3700-3702)Ccc>Tcc	p.P1234S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1234S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1234	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTACCTGGGGGTCCTGGGGGA	0.507000													20	64					0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134161711	134161711	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:134161711C>T	ENST00000392638.2	+	6	972	c.777C>T	c.(775-777)atC>atT	p.I259I	LRRC27_ENST00000432555.2_Silent_p.I132I|LRRC27_ENST00000368615.3_Silent_p.I259I|LRRC27_ENST00000368613.4_Silent_p.I259I|LRRC27_ENST00000368612.1_Silent_p.I197I|LRRC27_ENST00000368614.3_Silent_p.I259I|LRRC27_ENST00000344079.5_Silent_p.I259I|LRRC27_ENST00000368610.3_Silent_p.I197I|LRRC27_ENST00000356571.4_3'UTR			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	259										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGAGGAGATCAGGCGCTTTT	0.542000													20	25					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74300161	74300161	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:74300161G>A	ENST00000377044.4	-	24	4643	c.4104C>T	c.(4102-4104)gtC>gtT	p.V1368V	TMEM2_ENST00000396272.3_Silent_p.V361V|TMEM2_ENST00000377066.5_Silent_p.V1305V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1368						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTCTTCTGCGGACAGTGGTGG	0.453000													26	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592993	179592993	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:179592993C>T	ENST00000589042.1	-	67	19782	c.19558G>A	c.(19558-19560)Gaa>Aaa	p.E6520K	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E5276K|TTN_ENST00000591111.1_Missense_Mutation_p.E6203K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6203	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGATATTTCTTTTCCATCC	0.378000													15	27					0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763301	20763301	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr13:20763301G>A	ENST00000382844.1	-	1	618	c.420C>T	c.(418-420)atC>atT	p.I140I	GJB2_ENST00000382848.4_Silent_p.I140I			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	140					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		CCCGGAAGAAGATGCTGCTTG	0.527000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	84					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214794733	214794733	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:214794733G>A	ENST00000331683.5	+	12	1359	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	SPAG16_ENST00000374309.3_Missense_Mutation_p.D328N	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	422					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TAAATTATGGGATCTATGTAA	0.418000													29	67					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249733	52249733	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:52249733C>T	ENST00000595042.1	-	3	656	c.515G>A	c.(514-516)gGg>gAg	p.G172E	FPR1_ENST00000304748.4_Missense_Mutation_p.G172E	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	172					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGCTACTGTCCCCGTTTTACC	0.527000													42	63					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29632693	29632693	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr20:29632693G>A	ENST00000278882.3	+	8	888	c.508G>A	c.(508-510)Gga>Aga	p.G170R	FRG1B_ENST00000358464.4_Missense_Mutation_p.G170R																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGAAAGATGGATTTTTGCA	0.313000													22	537					0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240960815	240960815	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:240960815G>A	ENST00000252711.2	-	3	359	c.259C>T	c.(259-261)Cct>Tct	p.P87S	NDUFA10_ENST00000404554.1_Missense_Mutation_p.P87S|NDUFA10_ENST00000307300.4_Missense_Mutation_p.P87S|NDUFA10_ENST00000407129.3_Missense_Mutation_p.P87S	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	87					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CCCGCTTCAGGAAAGTGCTTG	0.507000											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	21					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38233389	38233389	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:38233389G>A	ENST00000558158.1	+	7	581	c.427G>A	c.(427-429)Gag>Aag	p.E143K	TMCO5A_ENST00000540944.1_Missense_Mutation_p.E143K|TMCO5A_ENST00000559502.1_Missense_Mutation_p.E143K|TMCO5A_ENST00000319669.4_Missense_Mutation_p.E143K			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	143						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TGCATGCCAAGAGAAGGAGCT	0.433000													9	23					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561218	9561218	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr20:9561218C>T	ENST00000378429.3	-	5	1110	c.564G>A	c.(562-564)ttG>ttA	p.L188L	PAK7_ENST00000353224.5_Silent_p.L188L|PAK7_ENST00000378423.1_Silent_p.L188L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	188	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AATCGGATTTCAAAGGCTTCA	0.463000													28	131					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11332367	11332367	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:11332367G>A	ENST00000315872.6	-	32	4518	c.4070C>T	c.(4069-4071)cCt>cTt	p.P1357L	ROCK2_ENST00000401753.1_Missense_Mutation_p.P1114L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1357					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCGGGCAAAAGGGTCTGGAGC	0.438000													40	104					0	0	1	0	0
SGSH	6448	broad.mit.edu	37	17	78190938	78190938	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:78190938G>A	ENST00000326317.6	-	2	228	c.142C>T	c.(142-144)Ccg>Tcg	p.P48S	SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Silent_p.P59P|SGSH_ENST00000534910.1_5'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	48					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCCAGGTGCGGGGTGGCGATG	0.667000													5	5					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159103998	159103998	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:159103998G>A	ENST00000297239.9	+	5	565	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	SYTL3_ENST00000360448.3_Missense_Mutation_p.R124Q|SYTL3_ENST00000367081.3_Missense_Mutation_p.E4K			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	124					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TATGAGGAACGAGCCAAGAAA	0.313000													16	29					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322840	79322840	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:79322840C>T	ENST00000428286.1	-	8	4473	c.3273G>A	c.(3271-3273)atG>atA	p.M1091I	PRUNE2_ENST00000376718.3_Missense_Mutation_p.M1450I			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1450					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGTGAAATTCATCCCATCTG	0.428000													26	43					0	0	1	0	0
ACBD7	414149	broad.mit.edu	37	10	15120537	15120537	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:15120537C>T	ENST00000356189.5	-	4	306	c.259G>A	c.(259-261)Gga>Aga	p.G87R	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	87	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						TTCTAAATTCCGTATTTTTCT	0.388000													18	28					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4458201	4458201	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:4458201G>A	ENST00000254718.4	-	2	555	c.249C>T	c.(247-249)gtC>gtT	p.V83V	MYBBP1A_ENST00000381556.2_Silent_p.V83V			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	83	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TTTCTCGCCCGACCCCGAGTC	0.597000													16	15					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114082716	114082716	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chrX:114082716C>T	ENST00000276198.1	+	5	1228	c.500C>T	c.(499-501)tCg>tTg	p.S167L	HTR2C_ENST00000371951.1_Missense_Mutation_p.S167L|HTR2C_ENST00000371950.3_Intron	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	167					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.S167L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CGTTTCAATTCGCGGACTAAG	0.408000													27	22					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082412	9082412	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:9082412C>T	ENST00000397910.4	-	1	9606	c.9403G>A	c.(9403-9405)Gcc>Acc	p.A3135T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3136	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						TTTCTTCTGGCTGTGGGTTCT	0.483000													30	78					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332406	100332406	+	RNA	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:100332406C>T	ENST00000341853.1	-	0	1785					NR_003260.1																						TCCAGAGTGGCCTTATGGACC	0.542000													22	97					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49161487	49161487	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:49161487G>A	ENST00000418109.1	-	25	3635	c.3471C>T	c.(3469-3471)cgC>cgT	p.R1157R	LAMB2_ENST00000305544.4_Silent_p.R1157R	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1157	Laminin EGF-like 13.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACCTGTGAAGCGGTGACACT	0.577000													12	35					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79385887	79385887	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:79385887G>A	ENST00000393878.1	-	2	339	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S	REG3A_ENST00000409839.3_Missense_Mutation_p.P29S|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.P29S	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	29					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TCCCTCTGGGGTTCTTCACCT	0.557000													13	23					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121490524	121490524	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:121490524G>A	ENST00000260197.7	+	43	5916	c.5787G>A	c.(5785-5787)ccG>ccA	p.P1929P	SORL1_ENST00000534286.1_Silent_p.P839P|SORL1_ENST00000532694.1_Silent_p.P775P|SORL1_ENST00000527934.1_Silent_p.P544P|SORL1_ENST00000525532.1_Silent_p.P873P	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1929					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGATGATCCCGGACAGCAGGC	0.532000													25	25					0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18096193	18096193	+	RNA	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:18096193C>T	ENST00000601725.1	+	0	625																											CCTTCCTCTCCATTGGCTACG	0.587000													4	13					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													6	53					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	39910314	39910314	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:39910314A>T	ENST00000350221.3	-	11	1530	c.1321T>A	c.(1321-1323)Ttc>Atc	p.F441I		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	441										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AGCTGGGGGAACACAGGTGTT	0.378000													51	85					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													7	101					0	0	1	0	0
CRYBA2	1412	broad.mit.edu	37	2	219857884	219857884	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:219857884G>A	ENST00000295728.2	-	1	251	c.15C>T	c.(13-15)ccC>ccT	p.P5P	CRYBA2_ENST00000392096.2_Silent_p.P5P	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	5	N-terminal arm.						structural constituent of eye lens			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ggcccggcgcgggggcgcTGC	0.706000													8	10					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829450	146829450	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:146829450C>T	ENST00000361727.3	+	8	1713	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	399					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGTCAGTTTCCAGTTTAGGA	0.493000										HNSCC(39;0.1)			64	49					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037969	75037969	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:75037969C>T	ENST00000326665.5	-	14	3643	c.3425G>A	c.(3424-3426)gGg>gAg	p.G1142E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1142	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTAGAAGCCCTGGATTGTC	0.458000													20	49					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89637521	89637521	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:89637521G>A	ENST00000294671.2	-	2	236	c.98C>T	c.(97-99)gCc>gTc	p.A33V		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	33						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTGTGTAATGGCAGACAGGAT	0.512000													30	87					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21196407	21196407	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:21196407A>T	ENST00000381541.3	+	7	932	c.867A>T	c.(865-867)gaA>gaT	p.E289D	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E289D|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E242D|LST3_ENST00000540229.1_Intron																							CACAGAAAGAAAGGAAAGTTT	0.323000													32	21					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6636587	6636587	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:6636587G>A	ENST00000333172.6	+	4	1566	c.1373G>A	c.(1372-1374)gGa>gAa	p.G458E	TAS1R1_ENST00000351136.3_Missense_Mutation_p.G204E|TAS1R1_ENST00000328191.4_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	458					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GACTGGAATGGACCCAAGTGG	0.483000													30	85					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	193056684	193056684	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:193056684G>A	ENST00000409056.3	-	2	203	c.204C>T	c.(202-204)ctC>ctT	p.L68L	TMEFF2_ENST00000272771.5_Silent_p.L68L|TMEFF2_ENST00000392314.1_Silent_p.L68L			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	68						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TGGTGTCACAGAGGAAGAGAT	0.353000													11	32					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1563755	1563755	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:1563755G>A	ENST00000572621.1	-	29	5021	c.4756C>T	c.(4756-4758)Cat>Tat	p.H1586Y	PRPF8_ENST00000304992.6_Missense_Mutation_p.H1586Y			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1586						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGCTCTCATGGATCTTCTGC	0.532000													115	271					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801846	185801846	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:185801846G>A	ENST00000302277.6	+	4	2317	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	575						intracellular	zinc ion binding	p.E575K(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CACTCTAGATGAAAAATACAA	0.299000													16	45					0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114083350	114083350	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr13:114083350G>A	ENST00000356501.4	-	4	492	c.317C>T	c.(316-318)cCc>cTc	p.P106L	ADPRHL1_ENST00000375418.3_Missense_Mutation_p.P188L	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	188					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CTGGACCAGGGGCTTTCCTTG	0.672000													10	13					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87660079	87660079	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:87660079A>G	ENST00000320005.5	-	8	987	c.940T>C	c.(940-942)Tac>Cac	p.Y314H		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	314					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAGAAGAGGTAGCAAATATCA	0.313000													58	88					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817383	45817383	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:45817383C>T	ENST00000358525.4	-	4	567	c.452G>A	c.(451-453)aGg>aAg	p.R151K	SLC6A20_ENST00000456124.2_Missense_Mutation_p.R151K|SLC6A20_ENST00000353278.4_Missense_Mutation_p.R151K	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	151					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GAGGGTTTTCCTGTACCAGAA	0.612000													29	83					0	0	1	0	0
ELF5	2001	broad.mit.edu	37	11	34502410	34502410	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:34502410G>A	ENST00000312319.2	-	6	839	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	ELF5_ENST00000429939.2_Missense_Mutation_p.R99W|ELF5_ENST00000257832.2_Missense_Mutation_p.R194W	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	204					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				TTAACCACCCGAAAAATTCCT	0.428000													29	76					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80808870	80808870	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:80808870G>A	ENST00000466387.1	+	18	2657	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	CTNNA2_ENST00000540488.1_Missense_Mutation_p.E645K|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E324K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E679K|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E645K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E645K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E645K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	645					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTTTGAGCAGGAAGATTATGA	0.458000													14	36					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670049	158670049	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:158670049G>A	ENST00000359610.2	-	1	437	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATGATAGAGGGATAATGAAGA	0.478000													23	55					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227906897	227906897	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:227906897C>T	ENST00000396625.3	-	37	3679	c.3472G>A	c.(3472-3474)Gat>Aat	p.D1158N	COL4A4_ENST00000329662.7_Missense_Mutation_p.D1158N	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1158	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATCCCTGGATCCCCCTGGAGG	0.542000													15	44					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6897264	6897264	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:6897264C>T	ENST00000312053.4	+	4	380	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	EMR1_ENST00000381404.4_Intron|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.P115S|EMR1_ENST00000450315.3_Missense_Mutation_p.P115S|EMR1_ENST00000601198.1_3'UTR	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	115	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTTCTCTTCTCCCACTGGAAA	0.507000													15	39					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54642858	54642858	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:54642858A>G	ENST00000230640.5	+	11	1380	c.1126A>G	c.(1126-1128)Aaa>Gaa	p.K376E	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.K275E	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	376					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AAATGTTTTCAAAATTGTGAA	0.284000													11	37					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51378772	51378772	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:51378772G>A	ENST00000266037.9	+	38	3894	c.3871G>A	c.(3871-3873)Gag>Aag	p.E1291K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1291	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCAGCGGAAGGAGGGACTGTG	0.542000													4	16					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31852325	31852325	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:31852325G>A	ENST00000395728.3	-	20	2785	c.2786C>T	c.(2785-2787)tCa>tTa	p.S929L	EHMT2_ENST00000375530.4_Missense_Mutation_p.S838L|EHMT2_ENST00000375528.4_Missense_Mutation_p.S895L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.S872L			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	872					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGCCCCACGTGACAGGAATAA	0.627000													34	62					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150883728	150883728	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:150883728C>T	ENST00000474524.1	+	10	1491	c.1453C>T	c.(1453-1455)Cat>Tat	p.H485Y	MED12L_ENST00000273432.4_Missense_Mutation_p.H345Y|MED12L_ENST00000422248.2_Missense_Mutation_p.H485Y|MED12L_ENST00000309237.4_Missense_Mutation_p.H485Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	485					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GACACTTTATCATAAGATTTT	0.343000													40	71					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96484232	96484232	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:96484232C>T	ENST00000285979.6	+	7	1290	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.T305I	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CTCCTCCCCACCAACCTGCCC	0.507000													39	49					0	0	1	0	0
RNASE9	390443	broad.mit.edu	37	14	21025135	21025135	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr14:21025135C>T	ENST00000557068.1	-	4	1819	c.94G>A	c.(94-96)Gat>Aat	p.D32N	RNASE9_ENST00000338904.3_Missense_Mutation_p.D32N|RNASE9_ENST00000555230.1_Missense_Mutation_p.D32N|RNASE9_ENST00000556208.1_Missense_Mutation_p.D37N|RNASE9_ENST00000554964.1_Missense_Mutation_p.D32N|RNASE9_ENST00000553541.1_Missense_Mutation_p.D32N|RNASE9_ENST00000553706.1_Missense_Mutation_p.D37N|RNASE9_ENST00000557209.1_Missense_Mutation_p.D37N|RNASE9_ENST00000429244.2_Missense_Mutation_p.D32N|RNASE9_ENST00000404716.3_Missense_Mutation_p.D37N			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	32						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		AAATCAAAATCTGTATCCACC	0.438000													18	23					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088132	9088132	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:9088132G>A	ENST00000397910.4	-	1	3886	c.3683C>T	c.(3682-3684)tCa>tTa	p.S1228L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1228	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						TGCCTCCAATGATGTGGCTGG	0.507000													81	194					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68709041	68709041	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:68709041G>A	ENST00000303145.7	-	9	1272	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S	MDM1_ENST00000540418.1_Missense_Mutation_p.P116S|MDM1_ENST00000411698.2_Missense_Mutation_p.P361S	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	396						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGGCTTGTAGGATCTCTGCGT	0.353000													40	42					0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722163	14722163	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:14722163C>T	ENST00000380911.3	-	1	552		c.e1+1			NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist						BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		AGAACACATACCTGGCTGAAG	0.532000													16	24					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836998	43836998	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr20:43836998G>A	ENST00000372781.3	+	2	1117	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	SEMG1_ENST00000244069.6_Missense_Mutation_p.E294K	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTCAAGTACGGAAGAAAGACG	0.408000													18	78					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179745858	179745858	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:179745858G>A	ENST00000253778.8	-	10	1062	c.893C>T	c.(892-894)tCg>tTg	p.S298L	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	298					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	ATCACTGGCCGAGCGCTTGAC	0.577000													5	21					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55929387	55929387	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:55929387G>A	ENST00000244728.5	-	24	2558	c.2161C>T	c.(2161-2163)Cca>Tca	p.P721S	COL21A1_ENST00000370808.2_Missense_Mutation_p.P121S|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.P718S|COL21A1_ENST00000535941.1_Missense_Mutation_p.P721S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	721	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGTTGCCCTGGAATTCCCTGT	0.323000													5	9					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73753115	73753115	+	Silent	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:73753115G>A	ENST00000200181.3	+	38	5332	c.5145G>A	c.(5143-5145)aaG>aaA	p.K1715K	ITGB4_ENST00000339591.3_Silent_p.K1698K|ITGB4_ENST00000449880.2_Silent_p.K1698K|ITGB4_ENST00000579662.1_Silent_p.K1645K|ITGB4_ENST00000450894.3_Silent_p.K1645K|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1715	Fibronectin type-III 4.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACAAGTTCAAGGTGCAGGCCA	0.652000													17	39					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828507	61828507	+	Silent	SNP	A	A	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:61828507A>C	ENST00000280772.1	-	37	12323	c.12132T>G	c.(12130-12132)ggT>ggG	p.G4044G	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4044					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGGCTGGCCACCCCGGGAAG	0.488000													31	59					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482347	156482347	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:156482347C>T	ENST00000339252.3	-	2	776	c.244G>A	c.(244-246)Gac>Aac	p.D82N	HAVCR1_ENST00000523175.1_Missense_Mutation_p.D82N|HAVCR1_ENST00000425854.1_Missense_Mutation_p.D82N|HAVCR1_ENST00000522693.1_Missense_Mutation_p.D82N|HAVCR1_ENST00000544197.1_Missense_Mutation_p.D82N	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	82	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTGAAAGGTCCCCCAATAGC	0.473000													24	35					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189590736	189590736	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:189590736C>T	ENST00000264731.3	+	10	1390	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	TP63_ENST00000449992.1_Missense_Mutation_p.T255M|TP63_ENST00000382063.4_Missense_Mutation_p.T349M|TP63_ENST00000456148.1_Missense_Mutation_p.T336M|TP63_ENST00000418709.2_Missense_Mutation_p.T434M|TP63_ENST00000392463.2_Missense_Mutation_p.T340M|TP63_ENST00000440651.2_Missense_Mutation_p.T430M|TP63_ENST00000320472.5_Missense_Mutation_p.T434M|TP63_ENST00000392461.3_Missense_Mutation_p.T340M|TP63_ENST00000354600.5_Missense_Mutation_p.T340M|TP63_ENST00000392460.3_Missense_Mutation_p.T434M|TP63_ENST00000437221.1_Missense_Mutation_p.T340M	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	434	Oligomerization.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACAATTGAAACGTACAGGCAA	0.463000										HNSCC(45;0.13)			27	66					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30880536	30880536	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:30880536C>T	ENST00000454381.3	-	9	902	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	GADL1_ENST00000282538.5_Missense_Mutation_p.E286K			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	286					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCTGCTATTTCATCCAGAGGG	0.448000													31	41					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283111	69283111	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chrX:69283111G>A	ENST00000338352.2	+	1	771	c.737G>A	c.(736-738)gGg>gAg	p.G246E		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	246	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						TTGATCATCGGGGAGGAGTAC	0.647000													7	6					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62050058	62050058	+	Silent	SNP	C	C	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:62050058C>T	ENST00000578147.1	-	1	220	c.144G>A	c.(142-144)gaG>gaA	p.E48E	SCN4A_ENST00000435607.1_Silent_p.E48E			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	48					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GTTCGGGCTCCTCAATCTCCA	0.637000													8	13					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301984	110301984	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:110301984T>A	ENST00000369805.3	-	5	510	c.281A>T	c.(280-282)gAc>gTc	p.D94V	EPS8L3_ENST00000361852.4_Missense_Mutation_p.D94V|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361965.4_Missense_Mutation_p.D94V	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	94						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGGATGCTGTCTAGGCGGTA	0.597000													18	72					0	0	1	0	0
SNHG12	85028	broad.mit.edu	37	1	28906819	28906820	+	RNA	INS	-	-	A	rs147786269		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:28906819_28906820insA	ENST00000488745.1	-	0	1100				SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA																							gactccgtctcaaaaaaaaaaa	0.490													6	7	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329																											ATTTCGCCCTCCACCGCCGCCGC	0.631													6	9	---	---	---	---					
GRXCR1	389207	broad.mit.edu	37	4	42965114	42965114	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:42965114delC	ENST00000399770.2	+	2	590	c.590delC	c.(589-591)tcfs	p.S197fs		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	197	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAAGCTCCTTCCCTCCCTGTT	0.433													7	383	---	---	---	---					
PABPC1	26986	broad.mit.edu	37	8	101721933	101721933	+	Frame_Shift_Del	DEL	T	T	-	rs112966887		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:101721933delT	ENST00000318607.5	-	8	2127	c.999delA	c.(997-999)aafs	p.K333fs	PABPC1_ENST00000522387.1_Frame_Shift_Del_p.K301fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Del_p.K288fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	333	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AACCAAACCCTTTGCTGCGAC	0.383													8	88	---	---	---	---					
RP11-394A14.2	0	broad.mit.edu	37	13	64407210	64407211	+	RNA	INS	-	-	TACTGTCAG			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366													7	203	---	---	---	---					
GGA3	23163	broad.mit.edu	37	17	73237732	73237749	+	In_Frame_Del	DEL	GTTTAAATAAAGTCCGCC	GTTTAAATAAAGTCCGCC	-			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:73237732_73237749delGTTTAAATAAAGTCCGCC	ENST00000245541.6	-	9	992_1009	c.776_793delGGCGGACTTTATTTAAAC	c.(775-795)atc>a	p.RRTLFKL259del	GGA3_ENST00000578348.1_In_Frame_Del_p.RRTLFKL137del|GGA3_ENST00000538886.1_In_Frame_Del_p.RRTLFKL137del|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000351904.7_In_Frame_Del_p.RRTLFKL226del|GGA3_ENST00000582717.1_In_Frame_Del_p.RRTLFKL187del|GGA3_ENST00000582486.1_In_Frame_Del_p.RRTLFKL187del	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	259	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TCACTGGCGAGTTTAAATAAAGTCCGCCTCTTGTTCTC	0.454													7	435	---	---	---	---					
