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
ZZEF1	23140	broad.mit.edu	37	17	3999943	3999943	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:3999943C>T	ENST00000381638.2	-	10	1848	c.1724G>A	c.(1723-1725)gGa>gAa	p.G575E	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	575							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGATTCAGTTCCGGTAGAAAA	0.358000													26	128					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120829139	120829139	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:120829139G>A	ENST00000369144.3	-	6	896	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	EIF3A_ENST00000541549.1_Missense_Mutation_p.H223Y|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	257					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AATAGCCCGTGAATATCTTCC	0.323000													21	70					0	0	1	0	0
SWAP70	23075	broad.mit.edu	37	11	9750958	9750958	+	Silent	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:9750958C>T	ENST00000318950.6	+	6	961	c.858C>T	c.(856-858)atC>atT	p.I286I	SWAP70_ENST00000447399.2_Silent_p.I228I	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	286	PH.					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		CTTTTGAAATCAGTGCTTCAG	0.318000													5	39					0	0	1	0	0
DNAJB6	10049	broad.mit.edu	37	7	157177596	157177596	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:157177596C>A	ENST00000262177.4	+	7	719	c.514C>A	c.(514-516)Ctc>Atc	p.L172I	DNAJB6_ENST00000452797.2_Missense_Mutation_p.L123I|DNAJB6_ENST00000429029.2_Missense_Mutation_p.L172I|DNAJB6_ENST00000443280.1_Intron	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	172	Gly/Phe-rich.|Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCACGGGGGCCTCACTTCATT	0.388000													25	90					1.33986e-20	1.45926e-20	1	1	0
VMP1	81671	broad.mit.edu	37	17	57917153	57917153	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:57917153T>C	ENST00000262291.4	+	12	1412	c.1102T>C	c.(1102-1104)Ttt>Ctt	p.F368L	VMP1_ENST00000537567.1_Missense_Mutation_p.F234L|VMP1_ENST00000539763.1_Missense_Mutation_p.F176L|VMP1_ENST00000545362.1_Missense_Mutation_p.F312L|VMP1_ENST00000536180.1_Missense_Mutation_p.F271L|VMP1_ENST00000588617.1_3'UTR	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	368					autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						GTCCTGGATGTTTGAAAAGTT	0.383000													45	212					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52524200	52524200	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:52524200T>C	ENST00000345716.4	+	18	3700	c.3566T>C	c.(3565-3567)tTt>tCt	p.F1189S	NISCH_ENST00000479054.1_Missense_Mutation_p.F1189S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1189					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GCTGTGTACTTTGTGCTCCAC	0.637000													4	66					0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88061298	88061298	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:88061298G>A	ENST00000524463.1	-	3	473	c.385C>T	c.(385-387)Cat>Tat	p.H129Y	CTSC_ENST00000529974.1_Missense_Mutation_p.H129Y|CTSC_ENST00000227266.5_Intron|CTSC_ENST00000393301.4_5'UTR	NM_001114173.1|NM_148170.3	NP_001107645.1|NP_680475.1	P53634	CATC_HUMAN	cathepsin C	0			V -> E (in PLS).		immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCCTCAGATGTGGCAAATCA	0.378000													16	47					0	0	1	0	0
UFSP2	55325	broad.mit.edu	37	4	186343657	186343657	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:186343657G>C	ENST00000264689.6	-	2	180	c.64C>G	c.(64-66)Cag>Gag	p.Q22E	UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	22						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GTAGCTAGCTGAAAAGCCAAA	0.318000													8	34					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16722211	16722211	+	RNA	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:16722211G>A	ENST00000417510.1	-	0	1519																											GTGGGGCCGTGAGAGTGCCAT	0.602000													6	52					0	0	1	0	0
EIF5A	1984	broad.mit.edu	37	17	7214726	7214726	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7214726G>A	ENST00000336458.8	+	4	729	c.328G>A	c.(328-330)Gag>Aag	p.E110K	EIF5A_ENST00000573542.1_Missense_Mutation_p.E110K|EIF5A_ENST00000571955.1_Missense_Mutation_p.E110K|EIF5A_ENST00000416016.2_Missense_Mutation_p.E110K|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000576930.1_Missense_Mutation_p.E110K|EIF5A_ENST00000572815.1_Missense_Mutation_p.E110K|EIF5A_ENST00000336452.7_Missense_Mutation_p.E140K|EIF5A_ENST00000419711.2_Missense_Mutation_p.E110K	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	110					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						GGAGGTACGAGAGGACCTTCG	0.582000													23	67					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14976739	14976739	+	Missense_Mutation	SNP	G	G	A	rs149556109		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:14976739G>A	ENST00000453695.2	-	7	584	c.140C>T	c.(139-141)aCg>aTg	p.T47M	DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T167M|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T167M|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T52M|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T52M|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T52M	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	167					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						ATCACAGAACGTAGTATCCAA	0.363000								Non-homologous end-joining					22	117					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69727005	69727005	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:69727005C>G	ENST00000349945.1	+	14	4547	c.2995C>G	c.(2995-2997)Caa>Gaa	p.Q999E	NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1092E|NFAT5_ENST00000354436.2_Missense_Mutation_p.Q1075E|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q999E|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1093E|NFAT5_ENST00000566899.1_Missense_Mutation_p.Q999E	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1075					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTTTCATCCTCAAAATCCTAT	0.418000													34	129					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801352	67801352	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr13:67801352G>A	ENST00000544246.1	-	2	1912	c.1221C>T	c.(1219-1221)gtC>gtT	p.V407V	PCDH9_ENST00000456367.1_Silent_p.V407V|PCDH9_ENST00000377865.2_Silent_p.V407V|PCDH9_ENST00000328454.5_Silent_p.V407V|PCDH9_ENST00000377861.3_Silent_p.V407V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	407	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AATGAAATGGGACCTCTCTTT	0.373000													19	84					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28908287	28908287	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:28908287G>A	ENST00000257192.4	+	4	564	c.352G>A	c.(352-354)Gag>Aag	p.E118K		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	118	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGTTGATCGAGAGGTCACTCC	0.343000													5	49					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18018385	18018385	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:18018385G>A	ENST00000262608.8	+	11	1270	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	CECR2_ENST00000342247.5_Missense_Mutation_p.E395K|CECR2_ENST00000400573.4_Missense_Mutation_p.E423K|CECR2_ENST00000400585.2_Missense_Mutation_p.E282K	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	465					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		ACCTGTGGATGAATCTTATGC	0.403000													21	53					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102901162	102901162	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr14:102901162G>A	ENST00000359520.7	+	9	2234	c.2008G>A	c.(2008-2010)Gat>Aat	p.D670N	TECPR2_ENST00000558678.1_Missense_Mutation_p.D670N	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	670							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GACCAGAGCTGATGAAGGCAG	0.587000													10	42					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11770226	11770226	+	Silent	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:11770226G>C	ENST00000381486.2	+	26	4902	c.4602G>C	c.(4600-4602)gtG>gtC	p.V1534V	GREB1_ENST00000234142.5_Silent_p.V1534V|GREB1_ENST00000396123.1_Silent_p.V532V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1534						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TACCCCTCGTGACAGACAAGG	0.567000													7	31					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057392	46057392	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr21:46057392G>A	ENST00000380095.1	+	1	120	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	20			V -> D (in dbSNP:rs2838602).			keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TTGGCGGGTAGTCGACTGCCC	0.667000													36	123					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026494	153026494	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:153026494C>A	ENST00000285900.5	+	3	570	c.227C>A	c.(226-228)tCc>tAc	p.S76Y	GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000340592.5_Missense_Mutation_p.S76Y|GRIA1_ENST00000518783.1_Missense_Mutation_p.S86Y|GRIA1_ENST00000521843.2_Missense_Mutation_p.S7Y|GRIA1_ENST00000448073.4_Missense_Mutation_p.S86Y|GRIA1_ENST00000518862.1_3'UTR	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	76					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			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)	GTAGTCTGTTCCCAGTTCTCC	0.443000													23	108					1.1804e-14	1.27298e-14	1	1	0
WWC1	23286	broad.mit.edu	37	5	167855066	167855066	+	Silent	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:167855066G>C	ENST00000265293.4	+	12	2341	c.1839G>C	c.(1837-1839)ctG>ctC	p.L613L	WWC1_ENST00000521089.1_Silent_p.L613L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	613					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTGTGGCCTGAAAGTGGCCT	0.562000													12	31					0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15217438	15217438	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:15217438C>T	ENST00000395930.1	-	6	1030	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	TEKT3_ENST00000338696.2_Missense_Mutation_p.G282S	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	282			G -> A (in dbSNP:rs230898).		microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CGGAAGTAGCCGACACCGTCT	0.542000													13	47					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36745144	36745144	+	Silent	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:36745144G>C	ENST00000216181.5	-	2	368	c.138C>G	c.(136-138)ctC>ctG	p.L46L	MYH9_ENST00000401701.1_Silent_p.L46L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	46	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTCCTCCTTGAGGCTGGCTG	0.557000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				11	52					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98351029	98351029	+	Silent	SNP	G	G	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:98351029G>T	ENST00000264972.5	+	9	1151	c.936G>T	c.(934-936)acG>acT	p.T312T	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.T5T|ZAP70_ENST00000442208.1_Silent_p.T186T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	312	Interdomain B.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCATGGACACGAGCGTGTATG	0.592000													10	61					7.48243e-07	7.80158e-07	1	1	0
TMEM242	729515	broad.mit.edu	37	6	157744500	157744500	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:157744500G>C	ENST00000367144.3	-	1	133	c.32C>G	c.(31-33)cCg>cGg	p.P11R				Q9NWH2	CF035_HUMAN	transmembrane protein 242	11						integral to membrane											CCCAGAGGCCGGCTGCCCAGT	0.637000													35	166					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53876955	53876955	+	Silent	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:53876955C>T	ENST00000267079.2	-	12	1758	c.1533G>A	c.(1531-1533)acG>acA	p.T511T	MAP3K12_ENST00000547035.1_Silent_p.T544T|MAP3K12_ENST00000547488.1_Silent_p.T544T	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	511				T -> A (in Ref. 1; AAA67343).	histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GCAAAGACTCCGTCTTGAGGA	0.527000													10	74					0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112407306	112407306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:112407306C>T	ENST00000312814.5	-	5	2600	c.2040G>A	c.(2038-2040)tgG>tgA	p.W680*	TMEM168_ENST00000454074.1_Nonsense_Mutation_p.W680*	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	680						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TAGGAAGAAACCAACTCATTT	0.388000													8	55					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076139	9076139	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr19:9076139G>A	ENST00000397910.4	-	3	11510	c.11307C>T	c.(11305-11307)atC>atT	p.I3769I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3770	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						TAGCTGGGCTGATCATGGTTT	0.527000													28	113					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1956400	1956400	+	Missense_Mutation	SNP	G	G	A	rs74786356		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:1956400G>A	ENST00000378585.4	+	2	171	c.88G>A	c.(88-90)Gac>Aac	p.D30N		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	30						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGACATCGGCGACTACGTGGG	0.612000													11	56					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7504747	7504747	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7504747C>T	ENST00000250113.7	-	7	974	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	214						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TTGGTAGCTTCTTCATTGCGG	0.502000													45	153					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712436	1712436	+	Silent	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:1712436C>T	ENST00000313871.3	+	2	277	c.81C>T	c.(79-81)atC>atT	p.I27I	AKAP17A_ENST00000381261.3_Silent_p.I27I	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	27					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGAAGCCCATCACCAAGATGA	0.622000													38	150					0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4715153	4715153	+	Splice_Site	SNP	G	G	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:4715153G>T	ENST00000399577.5	+	7	771		c.e7+1		MGRN1_ENST00000415496.1_Splice_Site|MGRN1_ENST00000262370.7_Splice_Site|MGRN1_ENST00000586183.1_Splice_Site|MGRN1_ENST00000588994.1_Splice_Site	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase						endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTTTGAAAAGGTAAGTGCCAT	0.647000													9	31					1.58986e-06	1.64211e-06	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158510943	158510943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:158510943G>T	ENST00000355585.4	+	25	3604	c.3529G>T	c.(3529-3531)Gaa>Taa	p.E1177*	SYNJ2_ENST00000367121.3_Nonsense_Mutation_p.E1177*|SYNJ2_ENST00000367122.2_Nonsense_Mutation_p.E1132*|SYNJ2_ENST00000367112.1_Nonsense_Mutation_p.E262*	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1177							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCAGGAGGCAGAAGCAGCAAT	0.493000													10	25					6.40141e-05	6.51996e-05	1	1	0
DDX46	9879	broad.mit.edu	37	5	134099644	134099644	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:134099644G>C	ENST00000452510.2	+	2	226	c.68G>C	c.(67-69)aGa>aCa	p.R23T	DDX46_ENST00000354283.4_Missense_Mutation_p.R23T	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	23	Arg-rich.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTCGGTCTAGAAGTCGCTCA	0.468000													13	68					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124738226	124738226	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:124738226C>T	ENST00000311127.4	-	5	1535	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	490	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ACAGTAGAGTCTGAGAACTGG	0.463000													46	174					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116340033	116340033	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:116340033A>G	ENST00000397752.3	+	2	1095	c.895A>G	c.(895-897)Att>Gtt	p.I299V	MET_ENST00000436117.2_Missense_Mutation_p.I299V|MET_ENST00000318493.6_Missense_Mutation_p.I299V	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	299	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCTGGAGTGTATTCTCACAGA	0.423000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				21	78					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96963148	96963148	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:96963148C>T	ENST00000323853.5	-	11	1407	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	SNRNP200_ENST00000349783.5_Missense_Mutation_p.E444K	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	444						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ACATGCACCTCTTCATAGCCC	0.507000													12	34					0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108641325	108641325	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:108641325G>A	ENST00000265174.4	-	1	283	c.11C>T	c.(10-12)cCc>cTc	p.P4L	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	4					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CAGGCTCCCGGGGATCTCCAT	0.682000													5	49					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55058269	55058269	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:55058269C>G	ENST00000371316.3	+	4	444	c.362C>G	c.(361-363)tCc>tGc	p.S121C	ACOT11_ENST00000343744.2_Missense_Mutation_p.S121C|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	121	Acyl coenzyme A hydrolase 1.|Coenzyme A binding (By similarity).				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GCCTTCAACTCCAGCATGGAG	0.607000													17	37					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950835	235950835	+	Silent	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:235950835C>G	ENST00000409212.1	+	4	1929	c.1422C>G	c.(1420-1422)gtC>gtG	p.V474V	SH3BP4_ENST00000392011.2_Silent_p.V474V|SH3BP4_ENST00000344528.4_Silent_p.V474V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	474					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ATAAAAAAGTCACAGTGGGTC	0.547000													29	38					0	0	1	0	0
ROPN1B	152015	broad.mit.edu	37	3	125701278	125701278	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:125701278G>C	ENST00000514116.1	+	6	877	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	ROPN1B_ENST00000251776.4_Missense_Mutation_p.E188Q|ROPN1B_ENST00000505382.1_Missense_Mutation_p.E96Q|ROPN1B_ENST00000511082.1_Missense_Mutation_p.E96Q			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	188					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		AAACTACATTGAACAGGAAGT	0.418000													12	40					0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72638653	72638653	+	Silent	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:72638653C>T	ENST00000268097.5	-	12	1847	c.1344G>A	c.(1342-1344)caG>caA	p.Q448Q	HEXA_ENST00000429918.2_Silent_p.Q275Q|HEXA_ENST00000567159.1_Silent_p.Q448Q|HEXA_ENST00000566304.1_Silent_p.Q459Q|HEXA_ENST00000457859.2_3'UTR|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	448					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CCAGAGCCTTCTGCTCAGGGG	0.562000													10	34					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152697692	152697692	+	Splice_Site	SNP	G	G	C	rs117360770	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:152697692G>C	ENST00000367255.5	-	58	9749	c.9146_splice	c.e58-1	p.L3050_splice	SYNE1_ENST00000265368.4_Splice_Site_p.L3050_splice|SYNE1_ENST00000423061.1_Splice_Site_p.L3057_splice|SYNE1_ENST00000448038.1_Splice_Site_p.L3057_splice|SYNE1_ENST00000341594.5_Splice_Site_p.L3089_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3050					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCAAACAAAGACTGAAAAGG	0.393000										HNSCC(10;0.0054)			12	41					0	0	1	0	0
NPY	4852	broad.mit.edu	37	7	24325048	24325048	+	Splice_Site	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:24325048G>A	ENST00000407573.1	+	3	478		c.e3+1		NPY_ENST00000405982.1_Splice_Site|NPY_ENST00000242152.2_Splice_Site			P01303	NPY_HUMAN	neuropeptide Y						adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CCAGGCAGAGGTGGGTGGGAC	0.612000													7	22					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141727722	141727722	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr8:141727722C>A	ENST00000522684.1	-	23	2346	c.2117G>T	c.(2116-2118)gGa>gTa	p.G706V	PTK2_ENST00000340930.3_Missense_Mutation_p.G706V|PTK2_ENST00000395218.2_Missense_Mutation_p.G706V|PTK2_ENST00000519465.1_Missense_Mutation_p.G334V|PTK2_ENST00000535192.1_Missense_Mutation_p.G706V|PTK2_ENST00000519419.1_Missense_Mutation_p.G750V|PTK2_ENST00000521059.1_Missense_Mutation_p.G706V|PTK2_ENST00000538769.1_Missense_Mutation_p.G374V|PTK2_ENST00000517887.1_Missense_Mutation_p.G750V|PTK2_ENST00000430260.2_Missense_Mutation_p.G16V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	706					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCAGACCCTCCGGAGTCCCA	0.517000													13	110					0.000219431	0.000221445	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41967568	41967568	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:41967568T>A	ENST00000298919.7	+	10	2595	c.2207T>A	c.(2206-2208)aTg>aAg	p.M736K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.M738K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.M996K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	996							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAAAAGATGATGAAAAAGAGA	0.458000													13	48					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912151	150912151	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:150912151G>A	ENST00000329903.4	+	6	1209	c.1176G>A	c.(1174-1176)gtG>gtA	p.V392V		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	392					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCGATGCCGTGAAACACTACA	0.512000													20	41					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508944	106508944	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:106508944C>T	ENST00000359195.3	+	2	1248	c.938C>T	c.(937-939)cCg>cTg	p.P313L	PIK3CG_ENST00000496166.1_Missense_Mutation_p.P313L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P313L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	313					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTCCAGACCCGGCCCTAGAC	0.587000													8	69					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33660511	33660511	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:33660511C>G	ENST00000374316.5	+	56	8525	c.7465C>G	c.(7465-7467)Ctc>Gtc	p.L2489V	ITPR3_ENST00000605930.1_Missense_Mutation_p.L2489V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2489					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCAGGAGTCTCTCTTCCCAGC	0.557000													14	73					0	0	1	0	0
PCED1A	64773	broad.mit.edu	37	20	2819590	2819590	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:2819590G>A	ENST00000360652.2	-	4	845	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	PCED1A_ENST00000356872.3_Intron	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A									p.R115S(1)									GAGTAAACACGAGTGAGGAAG	0.587000													21	103					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34022455	34022455	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:34022455G>A	ENST00000374372.1	-	4	1261	c.758C>T	c.(757-759)gCg>gTg	p.A253V	GDF5OS_ENST00000374375.1_Missense_Mutation_p.A167T|GDF5_ENST00000374369.3_Missense_Mutation_p.A253V			P43026	GDF5_HUMAN	growth differentiation factor 5	253					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCCGGGGGCCGCTGGCTTGGC	0.697000													15	46					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103801	53103801	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:53103801G>A	ENST00000408890.4	+	1	453	c.437G>A	c.(436-438)cGt>cAt	p.R146H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	146								p.R146H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCCTGAGCGTCAGGAGAGC	0.711000													7	26					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48154800	48154800	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:48154800C>T	ENST00000320031.8	+	16	2458	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	ITGA3_ENST00000007722.7_Missense_Mutation_p.R710W	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	710					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CCCCTTCAAACGGAACCAGAG	0.602000													21	75					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40039015	40039015	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:40039015C>T	ENST00000181839.4	+	4	2703	c.2098C>T	c.(2098-2100)Cgc>Tgc	p.R700C	CDK13_ENST00000340829.5_Missense_Mutation_p.R700C|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	700			R -> L (in dbSNP:rs1057000).		alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.R700G(1)|p.L700V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTGGGGAAAACGCTGCGTGGA	0.358000													21	60					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919952	48919952	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:48919952G>C	ENST00000310194.1	+	1	538	c.538G>C	c.(538-540)Gag>Cag	p.E180Q	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CTACAGCTATGAGATGCCATC	0.512000													18	78					0	0	1	0	0
TFPI2	7980	broad.mit.edu	37	7	93519569	93519569	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:93519569G>A	ENST00000222543.5	-	2	463	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C	TFPI2_ENST00000545378.1_Missense_Mutation_p.R51C|GNGT1_ENST00000455502.1_Intron	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	51	BPTI/Kunitz inhibitor 1.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TAGTAGTAACGGAGAAGTAGG	0.577000													16	66					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75660449	75660449	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:75660449G>A	ENST00000565683.1	-	2	203	c.192C>T	c.(190-192)ttC>ttT	p.F64F	MAN2C1_ENST00000267978.5_Silent_p.F64F|MAN2C1_ENST00000569482.1_Silent_p.F64F|MAN2C1_ENST00000563622.1_Silent_p.F64F|MAN2C1_ENST00000563539.1_5'UTR	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	64					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCGCGGGGCGGAAGTCCCGCT	0.687000													3	7					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16357119	16357119	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:16357119C>G	ENST00000375692.1	+	16	1700	c.1572C>G	c.(1570-1572)atC>atG	p.I524M	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.I524M|CLCNKA_ENST00000439316.2_Missense_Mutation_p.I481M|CLCNKA_ENST00000420078.1_Missense_Mutation_p.I524M			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	524					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATGGCACCATCATTGTCAAGA	0.602000													16	50					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39864721	39864721	+	Silent	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:39864721C>G	ENST00000538976.1	+	20	2657	c.2475C>G	c.(2473-2475)ctC>ctG	p.L825L	DAAM2_ENST00000398904.2_Silent_p.L825L|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Silent_p.L825L	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	825	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGGCCAGCCTCAACAAGATCG	0.587000													13	32					0	0	1	0	0
SURF4	6836	broad.mit.edu	37	9	136231752	136231752	+	Missense_Mutation	SNP	G	G	C	rs143747201		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:136231752G>C	ENST00000371989.3	-	5	636	c.507C>G	c.(505-507)ttC>ttG	p.F169L	SURF4_ENST00000371991.3_Missense_Mutation_p.F169L|SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Intron	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	169						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GGAGGGTCATGAACATCAGAA	0.557000													8	32					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132471207	132471207	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:132471207C>T	ENST00000333577.4	+	7	2295	c.2186C>T	c.(2185-2187)tCa>tTa	p.S729L	EP400_ENST00000330386.6_Missense_Mutation_p.S693L|EP400_ENST00000332482.4_Missense_Mutation_p.S656L|EP400_ENST00000389561.2_Missense_Mutation_p.S693L|EP400_ENST00000389562.2_Missense_Mutation_p.S692L			Q96L91	EP400_HUMAN	E1A binding protein p400	729					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGACCTTCCTCAGCCACCAAT	0.622000													30	122					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170327760	170327760	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:170327760C>G	ENST00000439128.2	-	30	3917	c.3277G>C	c.(3277-3279)Gat>Cat	p.D1093H	NEK1_ENST00000510533.1_Missense_Mutation_p.D1049H|NEK1_ENST00000507142.1_Missense_Mutation_p.D1121H|NEK1_ENST00000511633.1_Missense_Mutation_p.D1077H|NEK1_ENST00000512193.1_Missense_Mutation_p.D1024H	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1093					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTTCAGAATCAGAAGGTCCT	0.328000													4	23					0	0	1	0	0
NXN	64359	broad.mit.edu	37	17	725684	725684	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:725684C>T	ENST00000336868.3	-	4	717	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	NXN_ENST00000575801.1_Missense_Mutation_p.R101Q|NXN_ENST00000538650.1_5'UTR|NXN_ENST00000537628.2_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	209	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GGTGAGGCTTCGGCAGGGCGG	0.602000													10	37					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15937205	15937205	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:15937205G>T	ENST00000504595.1	+	4	1867	c.1386G>T	c.(1384-1386)caG>caT	p.Q462H	FBXL7_ENST00000510662.1_Missense_Mutation_p.Q415H|FBXL7_ENST00000329673.7_Missense_Mutation_p.Q450H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	462					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGAATGTCCAGGACTGCGAGG	0.612000													7	21					8.12818e-05	8.24056e-05	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71490923	71490923	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:71490923G>C	ENST00000296755.7	+	5	2039	c.1741G>C	c.(1741-1743)Gaa>Caa	p.E581Q		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	581						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACCCAAAGTTGAAAGCAAAGA	0.443000													6	37					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42701667	42701667	+	Silent	SNP	C	C	T	rs140398882		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr13:42701667C>T	ENST00000337343.4	+	2	282	c.261C>T	c.(259-261)ttC>ttT	p.F87F	DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000540693.1_Silent_p.F87F|DGKH_ENST00000261491.4_Silent_p.F87F	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	87	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AGCGATACTTCAAACTTCGAG	0.408000													6	29					0	0	1	0	0
SHD	56961	broad.mit.edu	37	19	4283194	4283194	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr19:4283194C>A	ENST00000543264.2	+	3	2010	c.547C>A	c.(547-549)Cag>Aag	p.Q183K	SHD_ENST00000599689.1_Missense_Mutation_p.Q183K	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	183										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGTATGATCAGCCCTGGGA	0.577000													10	55					3.86212e-05	3.95194e-05	1	1	0
CAMK1G	57172	broad.mit.edu	37	1	209786148	209786148	+	Silent	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:209786148C>A	ENST00000009105.1	+	12	1604	c.1359C>A	c.(1357-1359)gtC>gtA	p.V453V	CAMK1G_ENST00000361322.2_Silent_p.V453V			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	453						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AGTCGGAGGTCATGGTACCAG	0.517000													21	74					1.90627e-21	2.08646e-21	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98524949	98524949	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:98524949G>C	ENST00000359863.4	+	23	3344	c.3135G>C	c.(3133-3135)ttG>ttC	p.L1045F	TRRAP_ENST00000355540.3_Missense_Mutation_p.L1045F|TRRAP_ENST00000446306.3_Missense_Mutation_p.L1044F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1045					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCGCCAGCTTGATCCGCCACT	0.592000													4	21					0	0	1	0	0
MGARP	84709	broad.mit.edu	37	4	140196470	140196470	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:140196470G>A	ENST00000398955.1	-	2	338	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_032623.3	NP_116012.2	Q8TDB4	CD049_HUMAN	mitochondria-localized glutamic acid-rich protein	53						integral to membrane											TGACTGTGACGCCTACAACCA	0.378000													9	71					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049685	107049685	+	Silent	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:107049685G>C	ENST00000409886.3	-	16	2349	c.2262C>G	c.(2260-2262)ctC>ctG	p.L754L	RGPD3_ENST00000304514.7_Silent_p.L754L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	754					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TATAGTTTTCGAGTTCCTGCA	0.368000													36	220					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1406340	1406340	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:1406340C>T	ENST00000270349.9	-	12	1689	c.1562G>A	c.(1561-1563)cGg>cAg	p.R521Q	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R521Q	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	521					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CCAGCACAGCCGCCAGTACAG	0.657000													24	83					0	0	1	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988638	103988638	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:103988638C>T	ENST00000370005.3	+	4	663	c.442C>T	c.(442-444)Cac>Tac	p.H148Y		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	148					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		TCACTGGTACCACCACAGCAC	0.512000													38	126					0	0	1	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150535945	150535945	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:150535945G>A	ENST00000361131.4	+	2	489	c.372G>A	c.(370-372)gaG>gaA	p.E124E		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	124					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		GTGATGAAGAGAGAGCTTCAA	0.423000													24	81					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26581908	26581908	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:26581908C>G	ENST00000252992.4	+	4	586	c.455C>G	c.(454-456)tCt>tGt	p.S152C	CEP85_ENST00000451429.2_Missense_Mutation_p.S101C	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	152						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						ATGTATTTCTCTGGTGCTACT	0.463000													18	81					0	0	1	0	0
MYC	4609	broad.mit.edu	37	8	128750945	128750945	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr8:128750945C>T	ENST00000377970.2	+	2	992	c.482C>T	c.(481-483)tCa>tTa	p.S161L	MYC_ENST00000259523.6_Missense_Mutation_p.S146L|MYC_ENST00000524013.1_Missense_Mutation_p.S160L	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	146					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAGCTCGTCTCAGAGAAGCTG	0.622000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	35					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967160	52967160	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:52967160C>G	ENST00000549343.1	-	1	440	c.402G>C	c.(400-402)caG>caC	p.Q134H	KRT74_ENST00000305620.2_Missense_Mutation_p.Q134H			Q7RTS7	K2C74_HUMAN	keratin 74	134	Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CGCGCACCTTCTGGATCTCAG	0.592000													22	90					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779573	133779573	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:133779573G>A	ENST00000372338.4	-	7	1506	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Nonsense_Mutation_p.Q422*|FIBCD1_ENST00000372337.2_Nonsense_Mutation_p.Q264*	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	422	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGCAGGTACTGCCCATTGAGG	0.612000													10	106					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6977363	6977363	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:6977363G>A	ENST00000278319.5	+	7	1743	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	ZNF215_ENST00000414517.2_Silent_p.G385G|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	385					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ATCAATGTGGGAAAGCCTTCT	0.383000													25	55					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32595799	32595799	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr21:32595799G>A	ENST00000286827.3	-	9	2389	c.1918C>T	c.(1918-1920)Ctc>Ttc	p.L640F	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.L640F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	640					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.L640I(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCAAAAGCGAGAAGCCTTTTG	0.498000													31	71					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69727105	69727105	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:69727105C>T	ENST00000349945.1	+	14	4647	c.3095C>T	c.(3094-3096)tCc>tTc	p.S1032F	NFAT5_ENST00000567239.1_Missense_Mutation_p.S1125F|NFAT5_ENST00000354436.2_Missense_Mutation_p.S1108F|NFAT5_ENST00000393742.2_Missense_Mutation_p.S1032F|NFAT5_ENST00000432919.1_Missense_Mutation_p.S1126F|NFAT5_ENST00000566899.1_Missense_Mutation_p.S1032F	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1108					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCTACAACCTCCTCTGAACAA	0.438000													48	147					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608214	608214	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:608214G>C	ENST00000264555.5	+	14	2886	c.2758G>C	c.(2758-2760)Gag>Cag	p.E920Q	PHRF1_ENST00000416188.2_Missense_Mutation_p.E919Q|PHRF1_ENST00000413872.2_Missense_Mutation_p.E918Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.E916Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	920							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CACGGAGCGAGAGGAGCCCAC	0.682000													7	54					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2589202	2589202	+	Splice_Site	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:2589202G>A	ENST00000261597.4	+	9	945		c.e9-1			NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component						attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTTGTCTCCAGAGGATTTATT	0.378000													13	66					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49432444	49432444	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:49432444C>T	ENST00000301067.7	-	34	8694	c.8695G>A	c.(8695-8697)Ggc>Agc	p.G2899S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGAGGTGGGCCCTGACCAGGA	0.617000													14	24					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102749197	102749197	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:102749197G>A	ENST00000370228.1	+	1	1415	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	C10orf2_ENST00000311916.2_Silent_p.L410L|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	410	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGGCGAGCTGACGGTCTTCA	0.502000													13	62					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138664652	138664652	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:138664652G>A	ENST00000520602.1	-	28	3221	c.2936C>T	c.(2935-2937)tCg>tTg	p.S979L	MCF2_ENST00000338585.6_Missense_Mutation_p.S935L|MCF2_ENST00000414978.1_Missense_Mutation_p.S979L|MCF2_ENST00000536274.1_Missense_Mutation_p.R806W|MCF2_ENST00000370573.4_Missense_Mutation_p.R845W|MCF2_ENST00000370576.4_Missense_Mutation_p.S919L|MCF2_ENST00000370578.4_Missense_Mutation_p.S1064L|MCF2_ENST00000519895.1_Missense_Mutation_p.S995L			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	919					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGCCATCTCCGACACAGGTCT	0.448000													3	37					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108315464	108315464	+	Splice_Site	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:108315464C>G	ENST00000370056.4	-	5	722	c.446_splice	c.e5-1	p.E150_splice	VAV3_ENST00000527011.1_Splice_Site_p.E150_splice|VAV3_ENST00000371846.4_Splice_Site_p.E85_splice|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	150					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ACAAGGGTTTCACTACAACAA	0.368000													13	74					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74637271	74637271	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:74637271G>A	ENST00000253159.8	+	22	3980	c.3782G>A	c.(3781-3783)cGt>cAt	p.R1261H	ZNF236_ENST00000320610.9_Missense_Mutation_p.R1263H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1261					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTGCGTTTCCGTACCTCGGGT	0.537000													10	56					0	0	1	0	0
C3orf36	80111	broad.mit.edu	37	3	133647532	133647532	+	Nonsense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:133647532G>C	ENST00000408895.2	-	1	1124	c.116C>G	c.(115-117)tCa>tGa	p.S39*		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	39										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						TCCAGGCCCTGAGGGGGCAGA	0.612000													13	34					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49509600	49509600	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:49509600C>G	ENST00000396029.3	-	5	2218	c.1651G>C	c.(1651-1653)Gat>Cat	p.D551H	ADNP_ENST00000349014.3_Missense_Mutation_p.D551H|ADNP_ENST00000371602.4_Missense_Mutation_p.D551H|ADNP_ENST00000396032.3_Missense_Mutation_p.D551H	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	551						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						AATGTCAAATCAAAACTCAAA	0.448000													25	127					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50976938	50976938	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:50976938G>T	ENST00000442544.2	+	23	3914	c.3298G>T	c.(3298-3300)Gtg>Ttg	p.V1100L	DCC_ENST00000581580.1_Missense_Mutation_p.V735L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1100					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAACCTGCTTGTGATCATTGT	0.527000													5	63					0.000602214	0.000602214	1	1	0
TACR2	6865	broad.mit.edu	37	10	71168822	71168822	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:71168822G>A	ENST00000373306.4	-	3	1140	c.597C>T	c.(595-597)ctC>ctT	p.L199L	TACR2_ENST00000373307.1_5'UTR	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	199					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	p.L199L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CGATCACCACGAGGTGGTACC	0.687000													4	15					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	64					0	0	1	0	0
SNORD3B-2	780852	broad.mit.edu	37	17	18967371	18967371	+	RNA	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:18967371G>C	ENST00000364880.1	-	0	78																											tctcttcctcggggttttcgg	0.498000													9	25					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50553671	50553671	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:50553671G>A	ENST00000262794.5	+	8	1338	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G419R|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G419R|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G399R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	419					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.G419*(1)|p.G399*(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CATCTGTGACGGAAAGTAAGG	0.498000													27	130					0	0	1	0	0
HABP4	22927	broad.mit.edu	37	9	99252296	99252296	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:99252296G>A	ENST00000375249.4	+	8	1293	c.1218G>A	c.(1216-1218)ccG>ccA	p.P406P	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Silent_p.P301P	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	406					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CAGATGACCCGGAAGATTTCC	0.522000													5	52					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74828882	74828882	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:74828882G>A	ENST00000358399.3	+	5	646	c.553G>A	c.(553-555)Gag>Aag	p.E185K	GDA_ENST00000376986.1_Missense_Mutation_p.E143K|GDA_ENST00000545168.1_Missense_Mutation_p.E111K|GDA_ENST00000238018.4_Missense_Mutation_p.E185K|GDA_ENST00000376989.3_Missense_Mutation_p.E160K|GDA_ENST00000477618.1_3'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	185					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGAGACCACTGAGGAATCGAT	0.403000													10	41					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187530372	187530372	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:187530372C>A	ENST00000441802.2	-	16	10380	c.10171G>T	c.(10171-10173)Gaa>Taa	p.E3391*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3391	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTTTGACTTCTCCCCTGACG	0.443000										HNSCC(5;0.00058)			28	24					1.17739e-12	1.26354e-12	1	1	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158595	26158595	+	Silent	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:26158595C>T	ENST00000289316.2	+	1	222	c.198C>T	c.(196-198)ttC>ttT	p.F66F	HIST1H2BD_ENST00000377777.4_Silent_p.F66F	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	66					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TGAATTCCTTCGTCAACGACA	0.577000													38	175					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77818756	77818756	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:77818756C>G	ENST00000334306.2	-	1	246	c.247G>C	c.(247-249)Gag>Cag	p.E83Q		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	83																	AGCCCCTCCTCCCCCAAAAGG	0.736000													8	27					0	0	1	0	0
TBK1	29110	broad.mit.edu	37	12	64878099	64878099	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:64878099G>A	ENST00000331710.5	+	9	1348	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	337	Ubiquitin-like.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TATATTTCATGAACTGGTATA	0.353000													4	16					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9305538	9305538	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:9305538C>T	ENST00000377403.2	+	2	847	c.545C>T	c.(544-546)tCa>tTa	p.S182L	H6PD_ENST00000602477.1_Missense_Mutation_p.S193L	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	182	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GACCACTTCTCAGCCCAGCAG	0.582000													14	88					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55591146	55591146	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:55591146C>A	ENST00000373965.2	-	31	4546	c.4152G>T	c.(4150-4152)ttG>ttT	p.L1384F	PCDH15_ENST00000414778.1_Missense_Mutation_p.L1382F|PCDH15_ENST00000409834.1_Missense_Mutation_p.L988F|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1377F|PCDH15_ENST00000395445.1_Missense_Mutation_p.L1384F|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1355F|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1340F|PCDH15_ENST00000395438.1_Missense_Mutation_p.L1377F|PCDH15_ENST00000437009.1_Missense_Mutation_p.L1306F|PCDH15_ENST00000320301.6_Missense_Mutation_p.L1377F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.L1377F|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1377					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCAGAGCCAACAAGGCCCCTT	0.488000										HNSCC(58;0.16)			14	78					1.3612e-06	1.41257e-06	1	1	0
HLA-A	3105	broad.mit.edu	37	6	29910349	29910349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:29910349C>T	ENST00000396634.1	+	3	360	c.19C>T	c.(19-21)Cga>Tga	p.R7*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.R7*			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	7					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CATGGCGCCCCGAACCCTCCT	0.677000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			10	73					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143676204	143676204	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:143676204G>C	ENST00000264170.4	+	3	454	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	KYNU_ENST00000410015.2_Missense_Mutation_p.E66Q|KYNU_ENST00000409512.1_Missense_Mutation_p.E66Q|KYNU_ENST00000375773.2_Missense_Mutation_p.E66Q	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	66					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GAATAAAGATGAAAATGCCAT	0.294000													7	20					0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1161732	1161732	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:1161732G>A	ENST00000381894.3	-	2	1202	c.531C>T	c.(529-531)atC>atT	p.I177I		NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	177						integral to membrane	protein binding										GGCCTGCGATGATGCACCTGT	0.647000													15	43					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195481096	195481096	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:195481096G>A	ENST00000463781.3	-	19	15775	c.15316C>T	c.(15316-15318)Cgg>Tgg	p.R5106W	MUC4_ENST00000475231.1_Missense_Mutation_p.R5054W|MUC4_ENST00000349607.4_Missense_Mutation_p.R819W|MUC4_ENST00000346145.4_Missense_Mutation_p.R870W	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1863					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)		GCACAGTGCCGCCCATCCCCA	0.637000													23	76					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACTGCTTGTAGATGGCCAT	0.622000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	51					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220432561	220432561	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:220432561G>C	ENST00000404537.1	-	3	1469	c.1413C>G	c.(1411-1413)atC>atG	p.I471M	OBSL1_ENST00000373873.4_Missense_Mutation_p.I471M|OBSL1_ENST00000265318.4_Missense_Mutation_p.I471M|OBSL1_ENST00000373876.1_Missense_Mutation_p.I471M|OBSL1_ENST00000603926.1_Missense_Mutation_p.I471M|OBSL1_ENST00000289656.3_Missense_Mutation_p.I58M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	471					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGCTCTGGCAGATGACCGGCA	0.627000													4	42					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134960105	134960105	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:134960105G>A	ENST00000398015.3	+	13	2832	c.2462G>A	c.(2461-2463)gGa>gAa	p.G821E	EPHB1_ENST00000493838.1_Missense_Mutation_p.G382E	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	821	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATGTCATTTGGAGAGAGACCC	0.522000													49	232					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95488418	95488418	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr12:95488418C>G	ENST00000343958.4	-	15	3773	c.3550G>C	c.(3550-3552)Gag>Cag	p.E1184Q	FGD6_ENST00000549499.1_Missense_Mutation_p.E1184Q|FGD6_ENST00000546711.1_Missense_Mutation_p.E1184Q	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1184					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGCATACTCTTCTATTGCC	0.388000													20	86					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11280795	11280795	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr19:11280795C>A	ENST00000432929.2	-	11	2725	c.2365G>T	c.(2365-2367)Gag>Tag	p.E789*	KANK2_ENST00000586659.1_Nonsense_Mutation_p.E781*|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000589894.1_Nonsense_Mutation_p.E781*|KANK2_ENST00000355150.5_Nonsense_Mutation_p.E781*|KANK2_ENST00000589359.1_Nonsense_Mutation_p.E789*	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	781										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGCCGTGCTCACAGGCGCAC	0.647000													18	88					1.02788e-11	1.09774e-11	1	1	0
FANCI	55215	broad.mit.edu	37	15	89804048	89804048	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:89804048G>C	ENST00000310775.7	+	4	348	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.E88Q|FANCI_ENST00000567996.1_Missense_Mutation_p.E88Q	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	88					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AATAGCGTCTGAGATCATAGG	0.428000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				50	109					0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6955318	6955318	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrY:6955318G>C	ENST00000383032.1	+	17	1938	c.1291G>C	c.(1291-1293)Gat>Cat	p.D431H	TBL1Y_ENST00000346432.3_Missense_Mutation_p.D431H|TBL1Y_ENST00000355162.2_Missense_Mutation_p.D431H	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	431					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TGCTTCATTTGATTCTACAGT	0.468000													13	11					0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104592419	104592419	+	Missense_Mutation	SNP	C	C	T	rs142037395	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr10:104592419C>T	ENST00000369887.3	-	6	1159	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	330			Missing (in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities).		androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	TCAATCTCCTCGTAGAGCTTC	0.532000													12	82					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100199295	100199295	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:100199295C>T	ENST00000317233.4	-	16	2993	c.2758G>A	c.(2758-2760)Gac>Aac	p.D920N	AFF3_ENST00000409236.1_Missense_Mutation_p.D920N|AFF3_ENST00000356421.2_Missense_Mutation_p.D945N|AFF3_ENST00000409579.1_Missense_Mutation_p.D945N	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	920					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGCTGGCTGTCGGCCTTAGGC	0.483000													19	74					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38033324	38033324	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:38033324C>A	ENST00000373062.3	-	15	2091	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	665					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TCCTGTTCCTCTTCCCTTTGT	0.393000													22	74					1.10923e-09	1.17323e-09	1	1	0
SPRED2	200734	broad.mit.edu	37	2	65540957	65540957	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:65540957C>T	ENST00000356388.4	-	6	1124	c.935G>A	c.(934-936)tGc>tAc	p.C312Y	SPRED2_ENST00000443619.2_Missense_Mutation_p.C309Y	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	312	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CATGTCCCTGCAGTACACGCA	0.692000													30	104					0	0	1	0	0
EIF5A	1984	broad.mit.edu	37	17	7214764	7214764	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7214764G>C	ENST00000336458.8	+	4	767	c.366G>C	c.(364-366)gaG>gaC	p.E122D	EIF5A_ENST00000573542.1_Missense_Mutation_p.E122D|EIF5A_ENST00000571955.1_Missense_Mutation_p.E122D|EIF5A_ENST00000416016.2_Missense_Mutation_p.E122D|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000576930.1_Missense_Mutation_p.E122D|EIF5A_ENST00000572815.1_Missense_Mutation_p.E122D|EIF5A_ENST00000336452.7_Missense_Mutation_p.E152D|EIF5A_ENST00000419711.2_Missense_Mutation_p.E122D	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	122					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						TTGGCAAGGAGATTGAGCAGA	0.557000													30	92					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													5	49					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36745252	36745252	+	Silent	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:36745252G>C	ENST00000216181.5	-	2	260	c.30C>G	c.(28-30)ctC>ctG	p.L10L	MYH9_ENST00000401701.1_Silent_p.L10L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	10	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TATCCACATAGAGATACTTAT	0.522000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				10	36					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113327031	113327031	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:113327031G>A	ENST00000264852.4	+	16	2295	c.1569G>A	c.(1567-1569)cgG>cgA	p.R523R	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.R523R	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	523						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TCCTCCATCGGAGAGCCCTGG	0.542000													19	83					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67680212	67680212	+	Splice_Site	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:67680212G>C	ENST00000334583.6	+	5	701	c.374_splice	c.e5+1	p.G125_splice	RLTPR_ENST00000545661.1_Splice_Site_p.G125_splice	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	125										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTCGACCCTTGGGTGAGGCCT	0.637000													8	31					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182386960	182386960	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:182386960G>C	ENST00000397033.2	+	18	2395	c.1965G>C	c.(1963-1965)aaG>aaC	p.K655N		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	655					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GGAGTATGAAGACATTGATGT	0.328000													38	47					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31337485	31337485	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:31337485C>A	ENST00000215862.4	-	10	1936	c.573G>T	c.(571-573)atG>atT	p.M191I	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000397641.2_Missense_Mutation_p.M253I	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	253							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGAAGATCCTCATCCGGGGAT	0.597000													16	35					6.31663e-08	6.64908e-08	1	1	0
ME3	10873	broad.mit.edu	37	11	86382833	86382833	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:86382833C>A	ENST00000543262.1	-	2	480	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	ME3_ENST00000393324.3_Missense_Mutation_p.D52Y|ME3_ENST00000359636.2_Missense_Mutation_p.D52Y	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	52					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CTGGTGACATCGTATCCGCGC	0.701000													15	28					5.35267e-07	5.60756e-07	1	1	0
APOB	338	broad.mit.edu	37	2	21247865	21247865	+	Silent	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:21247865G>C	ENST00000233242.1	-	16	2503	c.2376C>G	c.(2374-2376)ctC>ctG	p.L792L	APOB_ENST00000399256.4_Silent_p.L792L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	792				LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGGAGCTGGAGGTCATGGA	0.567000													19	78					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912215	150912215	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:150912215G>C	ENST00000329903.4	+	6	1273	c.1240G>C	c.(1240-1242)Gac>Cac	p.D414H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	414					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TAGGTGGTTTGACTACTTGTG	0.502000													15	21					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43213818	43213818	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr22:43213818C>T	ENST00000263245.5	-	10	1077	c.858G>A	c.(856-858)atG>atA	p.M286I	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.M214I|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.M242I	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	286					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						cgtctttcttcatttgaattt	0.343000													20	95					0	0	1	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220446	146220446	+	RNA	SNP	G	G	A	rs4489360	by1000genomes	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr8:146220446G>A	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						TGGCACATACGAGATCTCTGA	0.502000													3	37					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971121	21971121	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:21971121G>A	ENST00000579755.1	-	2	572	c.280C>T	c.(280-282)Ccg>Tcg	p.P94S	CDKN2A_ENST00000446177.1_Silent_p.T79T|CDKN2A_ENST00000479692.2_Silent_p.T28T|CDKN2A_ENST00000498124.1_Silent_p.T79T|CDKN2A_ENST00000498628.2_Silent_p.T28T|CDKN2A_ENST00000304494.5_Silent_p.T79T|CDKN2A_ENST00000494262.1_Silent_p.T28T|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94S|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135S|CDKN2A_ENST00000497750.1_Silent_p.T28T|CDKN2A_ENST00000579122.1_Silent_p.T79T|CDKN2A_ENST00000578845.2_Silent_p.T28T			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> Q (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.R80*(9)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.T79T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCACGGGTCGGGTGAGAGTGG	0.731000	R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	9					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291302	33291302	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr14:33291302C>T	ENST00000280979.4	+	13	4453	c.4283C>T	c.(4282-4284)tCg>tTg	p.S1428L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1428					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGCTCTCAGTCGTCCATTTCA	0.398000													9	58					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107474523	107474523	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:107474523G>A	ENST00000415149.2	+	10	1231	c.904G>A	c.(904-906)Gag>Aag	p.E302K	BBX_ENST00000416476.2_Missense_Mutation_p.E302K|BBX_ENST00000406780.1_Missense_Mutation_p.E302K|BBX_ENST00000325805.8_Missense_Mutation_p.E302K|BBX_ENST00000402543.1_Missense_Mutation_p.E302K	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	302					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)			TCAACTGGCAGAGGCAAGTTC	0.398000													21	68					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154492809	154492809	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:154492809C>G	ENST00000368482.4	+	5	1009	c.171C>G	c.(169-171)ttC>ttG	p.F57L	TDRD10_ENST00000368480.3_Missense_Mutation_p.F57L	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	57	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAAAGGACTTCAACCCTCTTG	0.423000													12	53					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152318772	152318772	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:152318772A>T	ENST00000243326.4	+	27	3727	c.3244A>T	c.(3244-3246)Atg>Ttg	p.M1082L	RIF1_ENST00000444746.2_Missense_Mutation_p.M1082L|RIF1_ENST00000453091.2_Missense_Mutation_p.M1082L|RIF1_ENST00000430328.2_Missense_Mutation_p.M1082L|RIF1_ENST00000428287.2_Missense_Mutation_p.M1082L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1082					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATTCCTGCCATGTATAATAA	0.333000													20	29					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1634142	1634142	+	Translation_Start_Site	SNP	T	T	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:1634142T>G	ENST00000545662.1	+	0	121				RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_De_novo_Start_InFrame|WDR81_ENST00000437219.2_Missense_Mutation_p.I87S|WDR81_ENST00000309182.5_Missense_Mutation_p.I239S|WDR81_ENST00000409644.1_Missense_Mutation_p.I1290S|WDR81_ENST00000419248.1_Missense_Mutation_p.I63S			B3KXU1	B3KXU1_HUMAN	WD repeat domain 81											cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGGGCGACATCGTGTCAGGG	0.642000													16	54					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154147161	154147161	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:154147161C>T	ENST00000389740.2	-	1	343	c.244G>A	c.(244-246)Gtc>Atc	p.V82I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	82						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACCGACAGGACGCTCATGAGA	0.478000													7	94					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531446	84531446	+	RNA	SNP	A	A	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:84531446A>G	ENST00000527857.1	+	0	1468					NR_026851.1																						GCCAGTAAAGACAGACTAGAA	0.443000													3	3					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10427801	10427801	+	Silent	SNP	A	A	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:10427801A>G	ENST00000245503.5	-	35	5541	c.5157T>C	c.(5155-5157)gtT>gtC	p.V1719V	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.V1719V|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1719					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCAGTAGCTGAACACGCTCAC	0.493000													23	77					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694466	141694466	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:141694466C>T	ENST00000344120.4	-	3	463	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	SPRY4_ENST00000434127.2_Missense_Mutation_p.G70R	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	70					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGGGCCCCGCCCCGGGTC	0.652000									Testicular Cancer, Familial Clustering of				10	45					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233759519	233759519	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:233759519G>A	ENST00000264051.3	-	6	1214	c.936C>T	c.(934-936)tcC>tcT	p.S312S	NGEF_ENST00000373552.4_Silent_p.S220S|NGEF_ENST00000409079.1_Silent_p.S220S|NGEF_ENST00000539537.1_Silent_p.S35S	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	312	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGTGCGCCTCGGACGGGTGCA	0.607000													23	58					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166615334	166615334	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:166615334C>G	ENST00000392701.3	-	6	1889	c.1114G>C	c.(1114-1116)Gaa>Caa	p.E372Q	GALNT3_ENST00000409882.1_Missense_Mutation_p.E110Q	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	372	Catalytic subdomain B.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TCAAAATATTCTTTTGATATG	0.284000													21	68					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	713055	713055	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:713055G>A	ENST00000382303.1	+	7	2941	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q	KANK1_ENST00000382293.3_Silent_p.Q605Q|KANK1_ENST00000382297.2_Silent_p.Q763Q|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	763					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GTGTGGGGCAGATAAATATTA	0.517000													23	65					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155255061	155255061	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:155255061G>A	ENST00000368358.3	+	5	1203	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	399						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGTTCGATGAGGAAAGCAT	0.627000													8	37					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	T	rs104894229		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:534289C>T	ENST00000417302.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			44	40					0	0	1	0	0
SNORD3A	780851	broad.mit.edu	37	17	19091407	19091407	+	RNA	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:19091407C>G	ENST00000365494.1	+	0	79																											ccgaaaaccacgaggaagaga	0.493000													24	632					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247890	149247890	+	Silent	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:149247890C>G	ENST00000407073.1	+	12	4987	c.3990C>G	c.(3988-3990)gtC>gtG	p.V1330V	MBD5_ENST00000404807.1_Silent_p.V1563V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1330						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)		ATTCTCTGGTCAAAGACTACA	0.448000													5	68					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133119350	133119350	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr3:133119350G>A	ENST00000302334.2	+	1	512	c.423G>A	c.(421-423)gaG>gaA	p.E141E		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	141	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TGCACCTGGAGAGCAAAGCCA	0.597000													9	35					0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46690733	46690733	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:46690733C>T	ENST00000239144.4	-	2	797	c.563G>A	c.(562-564)aGa>aAa	p.R188K	HOXB8_ENST00000576562.1_Missense_Mutation_p.R187K|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	188						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						TTTGACCTGTCTCTCTGTCAG	0.522000													15	98					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202137385	202137385	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:202137385A>G	ENST00000358485.4	+	4	809	c.613A>G	c.(613-615)Atg>Gtg	p.M205V	CASP8_ENST00000264274.9_Missense_Mutation_p.M146V|CASP8_ENST00000392258.3_Missense_Mutation_p.M146V|CASP8_ENST00000392259.2_Missense_Mutation_p.M146V|CASP8_ENST00000432109.2_Missense_Mutation_p.M146V|CASP8_ENST00000323492.7_Missense_Mutation_p.M146V|CASP8_ENST00000264275.5_Missense_Mutation_p.M178V|CASP8_ENST00000392266.3_Missense_Mutation_p.M146V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	146					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTTCATAGAGATGGAGAAGAG	0.393000										HNSCC(4;0.00038)			56	73					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37162628	37162628	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:37162628G>A	ENST00000274258.7	-	38	7856	c.4269C>T	c.(4267-4269)ttC>ttT	p.F1423F	C5orf42_ENST00000425232.2_Silent_p.F2543F|C5orf42_ENST00000508244.1_Silent_p.F2543F			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2543										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAGAGGCCATGAAATGCAATC	0.318000													15	65					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9559477	9559477	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr18:9559477G>A	ENST00000400556.3	-	14	2041	c.1968C>T	c.(1966-1968)ctC>ctT	p.L656L	PPP4R1_ENST00000400555.3_Silent_p.L639L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	656					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TCTGTCTTCCGAGTGTCAAGG	0.478000													7	192					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236189232	236189232	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:236189232G>A	ENST00000264187.6	-	8	2030	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	NID1_ENST00000366595.3_Missense_Mutation_p.R650C	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	650	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGAGCATAGCGCAAGATCTTC	0.572000													44	182					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4247876	4247876	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:4247876G>A	ENST00000404826.2	+	37	5499	c.5360G>A	c.(5359-5361)gGa>gAa	p.G1787E	SDK1_ENST00000389531.3_Missense_Mutation_p.G1767E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1787	Fibronectin type-III 11.				cell adhesion	integral to membrane		p.G1787V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCCGGAGATGGACCTAAGAGT	0.617000													11	42					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55565907	55565907	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:55565907C>G	ENST00000288135.5	+	4	828	c.731C>G	c.(730-732)tCa>tGa	p.S244*		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	244	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGTGTACTCAACGTGGAAA	0.428000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				24	99					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94820490	94820490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr5:94820490G>A	ENST00000358746.2	-	38	4289	c.3991C>T	c.(3991-3993)Caa>Taa	p.Q1331*		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1331							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GTGACAGCTTGTGAGAGAGAC	0.348000													16	66					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161128754	161128754	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:161128754G>C	ENST00000308192.9	+	3	271	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Missense_Mutation_p.E70Q	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	70	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCACAGTAAAGAGCAACAATG	0.318000													30	152					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26349536	26349536	+	Silent	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr1:26349536C>T	ENST00000374280.3	+	1	1266	c.399C>T	c.(397-399)ctC>ctT	p.L133L		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	133					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCTGCCTCCTCCTCCTCC	0.607000													13	63					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670430	95670430	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr14:95670430G>A	ENST00000298912.4	-	9	1369	c.1256C>T	c.(1255-1257)tCt>tTt	p.S419F		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	419						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GATCGGCAAAGAGTTGGACCT	0.507000													23	120					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117868516	117868516	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr8:117868516C>G	ENST00000297338.2	-	8	1113	c.826G>C	c.(826-828)Gat>Cat	p.D276H		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	276					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TCAGGACTATCAGGCCCACCC	0.378000													37	63					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46748086	46748086	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:46748086G>A	ENST00000311907.5	+	8	969	c.913G>A	c.(913-915)Gag>Aag	p.E305K	F2_ENST00000530231.1_Missense_Mutation_p.E305K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	305					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TGGGCTGGATGAGGACTCAGA	0.617000													13	47					0	0	1	0	0
C2orf43	60526	broad.mit.edu	37	2	20990107	20990107	+	Missense_Mutation	SNP	G	G	C	rs36063668	byFrequency	TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:20990107G>C	ENST00000237822.3	-	3	285	c.206C>G	c.(205-207)tCt>tGt	p.S69C	C2orf43_ENST00000403006.2_5'UTR|C2orf43_ENST00000381090.3_Missense_Mutation_p.S69C|C2orf43_ENST00000419825.2_Missense_Mutation_p.S69C|C2orf43_ENST00000541941.1_5'UTR|C2orf43_ENST00000435420.2_Intron|C2orf43_ENST00000440866.2_Missense_Mutation_p.S69C	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	69										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTGTCAAAGAGTATAAAGC	0.408000													27	81					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46129474	46129474	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:46129474G>A	ENST00000371383.2	-	5	1283	c.1023C>T	c.(1021-1023)taC>taT	p.Y341Y	ENPP5_ENST00000230565.3_Silent_p.Y341Y			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	341						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ACGCATTATCGTAACCGTGGT	0.363000													29	230					0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35870144	35870144	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:35870144G>A	ENST00000377981.2	-	1	317	c.255C>T	c.(253-255)ctC>ctT	p.L85L		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GGGATGACAGGAGGTGGACCA	0.587000													14	55					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47107270	47107270	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:47107270G>T	ENST00000377107.2	+	21	3058	c.2704G>T	c.(2704-2706)Gcc>Tcc	p.A902S	USP11_ENST00000218348.3_Missense_Mutation_p.A945S			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	945					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTCATCTGGCGCCCCAGCCTC	0.602000													10	7					1.33987e-11	1.42402e-11	1	1	0
TP53	7157	broad.mit.edu	37	17	7579521	7579521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:7579521C>A	ENST00000420246.2	-	4	298	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	56	Interaction with HRMT1L2.		E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTGGGTCTTCAGTGAACCAT	0.597000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			46	201					6.34439e-16	6.87569e-16	1	1	0
ZNF257	113835	broad.mit.edu	37	19	22272184	22272184	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr19:22272184A>T	ENST00000594947.1	+	4	1776	c.1632A>T	c.(1630-1632)aaA>aaT	p.K544N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACCCCAACAAATATGAAGAAT	0.373000													5	25					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46271097	46271097	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr20:46271097G>A	ENST00000372004.3	+	17	3437	c.3221G>A	c.(3220-3222)aGa>aAa	p.R1074K	NCOA3_ENST00000341724.6_Missense_Mutation_p.R1004K|NCOA3_ENST00000371997.3_Missense_Mutation_p.R1069K|NCOA3_ENST00000371998.3_Missense_Mutation_p.R1074K	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1074	Interaction with CREBBP.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GAAATTGACAGAGCTTTGGGC	0.478000													4	35					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191835441	191835441	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:191835441C>T	ENST00000361099.3	-	25	2628	c.2241G>A	c.(2239-2241)atG>atA	p.M747I	STAT1_ENST00000409465.1_Missense_Mutation_p.M747I|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	747					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATACTGTGTTCATCTGTAAAA	0.363000													12	35					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102294648	102294648	+	RNA	SNP	T	T	C			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:102294648T>C	ENST00000561463.1	+	0	2694																											TTCTCAGAGCTGCTGTCCAAC	0.587000													3	26					0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156839325	156839325	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr4:156839325G>A	ENST00000536354.2	+	11	1065	c.1001G>A	c.(1000-1002)aGa>aAa	p.R334K		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	334					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	ATGGTGCACAGAATGCTGGGC	0.473000													19	56					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28842045	28842045	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:28842045C>T	ENST00000336783.4	+	9	1311	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	ATXN2L_ENST00000570200.1_Missense_Mutation_p.R382C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R382C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R382C|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R382C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R382C|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R382C	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	382						membrane		p.R382C(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TTTGCCACCTCGTGGCCCTCA	0.612000													8	30					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	9					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191840560	191840560	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:191840560C>T	ENST00000361099.3	-	23	2500	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	STAT1_ENST00000392323.2_Missense_Mutation_p.E707K|STAT1_ENST00000392322.3_Missense_Mutation_p.E705K|STAT1_ENST00000409465.1_Missense_Mutation_p.E705K|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	705					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E705K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GAAATCAACTCAGTCTTGATA	0.443000													4	48					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15750622	15750622	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr21:15750622C>T	ENST00000285667.3	-	3	545	c.478G>A	c.(478-480)Gag>Aag	p.E160K	HSPA13_ENST00000544452.1_Intron	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	160						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGATATGCCTCTGCCATTTCC	0.403000													10	62					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203846292	203846292	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:203846292G>A	ENST00000320443.8	+	14	2616	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K	CARF_ENST00000414439.1_Missense_Mutation_p.E423K|CARF_ENST00000402905.2_Missense_Mutation_p.E525K|CARF_ENST00000545262.1_Missense_Mutation_p.E449K|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.E449K|CARF_ENST00000438828.2_Missense_Mutation_p.E525K|CARF_ENST00000545253.1_Missense_Mutation_p.E437K					calcium responsive transcription factor																		TTCACCAGGAGAATCAATTAC	0.358000													16	25					0	0	1	0	0
BAK1	578	broad.mit.edu	37	6	33543100	33543100	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr6:33543100C>T	ENST00000374467.3	-	4	573	c.325G>A	c.(325-327)Gag>Aag	p.E109K	BAK1_ENST00000442998.2_Missense_Mutation_p.E109K|BAK1_ENST00000360661.5_Missense_Mutation_p.E109K	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	109					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GTGAAGTACTCATAGGCATTC	0.572000													9	58					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102294651	102294651	+	RNA	SNP	T	T	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:102294651T>G	ENST00000561463.1	+	0	2697																											TCAGAGCTGCTGTCCAACCTG	0.587000													3	26					0	0	1	0	0
ALG11	440138	broad.mit.edu	37	13	52598374	52598374	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr13:52598374G>A	ENST00000521508.1	+	3	513	c.508G>A	c.(508-510)Gat>Aat	p.D170N	ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GTGTGTTCCTGATGTTTACAT	0.423000													29	106					0	0	1	0	0
NUP88	4927	broad.mit.edu	37	17	5319905	5319905	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr17:5319905A>T	ENST00000573584.1	-	2	904	c.395T>A	c.(394-396)aTg>aAg	p.M132K		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	132					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TTCTAATACCATAAGTCCTTT	0.338000													9	37					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69726982	69726982	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:69726982C>G	ENST00000349945.1	+	14	4524	c.2972C>G	c.(2971-2973)tCa>tGa	p.S991*	NFAT5_ENST00000567239.1_Nonsense_Mutation_p.S1084*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.S1067*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.S991*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.S1085*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.S991*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1067					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCTTCTCATTCACAGGCCCAA	0.413000													37	133					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220374	130220374	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chrX:130220374C>G	ENST00000276211.5	+	10	1698	c.1353C>G	c.(1351-1353)atC>atG	p.I451M	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.I315M|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.I439M	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	451					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTGATTTTATCAGACGCAGGA	0.478000													24	28					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749068	139749068	+	Missense_Mutation	SNP	G	G	A	rs142114032		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr9:139749068G>A	ENST00000445819.1	+	8	924	c.874G>A	c.(874-876)Gct>Act	p.A292T	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.A292T			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	292	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GAACCACCGCGCTGGTGGTCC	0.706000													8	18					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39088439	39088439	+	Silent	SNP	G	G	A			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr2:39088439G>A	ENST00000295373.6	-	5	1239	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	371							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AAAATGCCACGAGCGGAGCTT	0.378000													19	62					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633834	70633834	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr14:70633834C>G	ENST00000381269.2	-	2	2059	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	SLC8A3_ENST00000534137.1_Missense_Mutation_p.E436Q|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E436Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E436Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E436Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	436	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAACCATCCTCTGTTTTGTAG	0.522000													32	144					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100775249	100775252	+	Frame_Shift_Del	DEL	CTCC	CTCC	-			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr7:100775249_100775252delCTCC	ENST00000223095.4	+	4	756_759	c.599_602delCTCC	c.(598-603)acfs	p.TP200fs	SERPINE1_ENST00000445463.2_Frame_Shift_Del_p.TP185fs	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	200					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CAGTGGAAGACTCCCTTCCCCGAC	0.564													21	215	---	---	---	---					
RP11-360K13.1	0	broad.mit.edu	37	11	96514999	96515000	+	RNA	DEL	AA	AA	-	rs112766481		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr11:96514999_96515000delAA	ENST00000527528.1	+	0	158																											CTTAGTTATTaaaaaaaaaaaa	0.371													4	9	---	---	---	---					
PLA2G4E	123745	broad.mit.edu	37	15	42302338	42302338	+	Frame_Shift_Del	DEL	A	A	-	rs28736629		TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:42302338delA	ENST00000413860.2	-	1	107	c.108delT	c.(106-108)ggfs	p.G38fs	PLA2G4E_ENST00000399518.3_Intron			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	0	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	p.A39fs*19(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGGCCCCCCCACCCCGGGCCT	0.592													17	25	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													4	5	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr16:29110406delT	ENST00000564580.1	+	0	1098																											TTAAAAAATCTTTTTTTTTTT	0.299													7	31	---	---	---	---					
ANKRD20A18P	391269	broad.mit.edu	37	21	15436915	15436915	+	RNA	DEL	G	G	-			TCGA-H7-8501-01A-11D-2394-08	TCGA-H7-8501-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7757c267-b7a8-49c4-822f-b957654edbef	16c549a2-0dbb-4eca-8dd2-279423d96599	g.chr21:15436915delG	ENST00000428809.1	+	0	177																											CCCCTGGGACGGGGGCCTTGG	0.687													3	4	---	---	---	---					
