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
ERBB2IP	55914	broad.mit.edu	37	5	65346707	65346707	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr5:65346707C>T	ENST00000284037.5	+	20	2389	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L	ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S663L|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S667L|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S667L|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S667L|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S667L|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S667L|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S667L|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S667L	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	667					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ATGTCTGATTCAGTTTCTCTT	0.363000													17	46					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223418	25223418	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr15:25223418T>C	ENST00000444203.2	+	7	1689	c.650T>C	c.(649-651)aTa>aCa	p.I217T	SNRPN_ENST00000390687.4_Missense_Mutation_p.I213T|SNRPN_ENST00000400100.1_Missense_Mutation_p.I213T|SNRPN_ENST00000400098.1_Missense_Mutation_p.I213T|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000577565.1_Missense_Mutation_p.I213T|SNRPN_ENST00000400097.1_Missense_Mutation_p.I213T|SNRPN_ENST00000554227.2_Missense_Mutation_p.I217T|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000346403.6_Missense_Mutation_p.I213T			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	213	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGACGCCAATAGGCATGCCG	0.562000									Prader-Willi syndrome				48	86					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40102457	40102457	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr7:40102457G>A	ENST00000181839.4	+	8	3238	c.2633G>A	c.(2632-2634)tGg>tAg	p.W878*	CDK13_ENST00000340829.5_Nonsense_Mutation_p.W878*|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	878	Protein kinase.				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.W878L(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						ATTACTTTATGGTACCGTCCA	0.388000													105	158					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53668745	53668745	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr12:53668745C>T	ENST00000257934.4	+	7	1742	c.1651C>T	c.(1651-1653)Cgg>Tgg	p.R551W	ESPL1_ENST00000552462.1_Missense_Mutation_p.R551W	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	551					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TTTCTGGGTTCGGGTCAAGAT	0.567000													5	15					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39125585	39125585	+	Silent	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr7:39125585G>A	ENST00000518318.2	+	2	186	c.144G>A	c.(142-144)gcG>gcA	p.A48A	POU6F2_ENST00000559001.1_Silent_p.A40A|POU6F2_ENST00000403058.1_Silent_p.A48A|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000464276.2_Silent_p.A40A			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	48					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCTGCTTGCGCCTGTGGAAT	0.512000													21	11					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73731833	73731833	+	Translation_Start_Site	SNP	C	C	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr7:73731833C>A	ENST00000223398.6	+	0	284				CLIP2_ENST00000361545.5_De_novo_Start_OutOfFrame	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2							microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCAGAGAGGACGTGACCAGCA	0.637000													9	14					7.48243e-07	8.05312e-07	1	1	0
SLC22A6	9356	broad.mit.edu	37	11	62748774	62748774	+	Silent	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr11:62748774C>T	ENST00000377871.3	-	5	1145	c.879G>A	c.(877-879)cgG>cgA	p.R293R	SLC22A6_ENST00000421062.2_Silent_p.R293R|SLC22A6_ENST00000458333.2_Silent_p.R293R|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Silent_p.R293R	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	293			R -> W (increase in substrate affinity; dbSNP:rs45607933).		alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCCCATTGATCCGGGCGACTC	0.622000													4	7					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8395589	8395589	+	Silent	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr1:8395589C>T	ENST00000471889.1	+	6	1921	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	SLC45A1_ENST00000377479.2_Silent_p.L546L|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000289877.8_Silent_p.L512L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	512					carbohydrate transport	integral to membrane	symporter activity	p.L512L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGGCGCCTCTGCTCCACCA	0.652000													17	24					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	156991	156991	+	Silent	SNP	C	C	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr5:156991C>A	ENST00000283426.6	+	9	1434	c.1384C>A	c.(1384-1386)Cgg>Agg	p.R462R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	462					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAGCACCTCCGGGAGCTGGC	0.652000													5	6					0.00116845	0.00118714	1	1	0
ELAVL3	1995	broad.mit.edu	37	19	11568911	11568911	+	Silent	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr19:11568911G>A	ENST00000359227.3	-	5	1102	c.678C>T	c.(676-678)taC>taT	p.Y226Y	ELAVL3_ENST00000438662.2_Silent_p.Y226Y	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	226					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGGGGCCTGCGTAGCGCCGGG	0.662000													17	35					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4725184	4725184	+	Silent	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr17:4725184C>T	ENST00000263088.6	+	24	2690	c.2559C>T	c.(2557-2559)aaC>aaT	p.N853N	PLD2_ENST00000572940.1_Silent_p.N842N	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	853					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CTGAGAGCAACGCCAATATCT	0.532000													31	50					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71234601	71234601	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr6:71234601A>C	ENST00000418814.2	+	15	2428	c.1814A>C	c.(1813-1815)aAc>aCc	p.N605T	FAM135A_ENST00000505868.1_Missense_Mutation_p.N605T|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000370479.3_Intron|FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000457062.2_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	605										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AACTCTGGCAACCTAAATCTT	0.393000													9	27					0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766060	27766060	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chrX:27766060C>G	ENST00000451261.2	+	5	1447	c.1048C>G	c.(1048-1050)Caa>Gaa	p.Q350E		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGACCTCAGACAAGACCGGCC	0.468000													15	3					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414019	179414019	+	Silent	SNP	T	T	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr2:179414019T>A	ENST00000589042.1	-	339	92558	c.92334A>T	c.(92332-92334)acA>acT	p.T30778T	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Silent_p.T21838T|TTN_ENST00000460472.2_Silent_p.T21713T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.T28210T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.T21905T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.T29137T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29137	Fibronectin type-III 124.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGAATCTTGTTTCAGAGA	0.423000													31	40					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113400619	113400619	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr12:113400619C>T	ENST00000228928.7	+	9	2175	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	666	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCAACAGCATCAGCAGCTCTG	0.582000													58	94					0	0	1	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75804439	75804439	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr12:75804439G>T	ENST00000550916.1	+	2	507	c.460G>T	c.(460-462)Gac>Tac	p.D154Y	GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.D154Y|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.D154Y|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.D154Y|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.D89Y|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.D47Y	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	154						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TTGCTCTGGAGACTGTTCTAA	0.313000													7	41					8.12818e-05	8.46131e-05	1	1	0
KCNV1	27012	broad.mit.edu	37	8	110984553	110984553	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr8:110984553G>A	ENST00000524391.1	-	3	1957	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C	KCNV1_ENST00000297404.1_Missense_Mutation_p.R309C			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	309						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGGACAATGCGCCCCACGTTC	0.522000													15	20					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580637	37580637	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr20:37580637C>A	ENST00000217429.4	+	4	1363	c.1322C>A	c.(1321-1323)aCc>aAc	p.T441N		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	411					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GGAACACAAACCAGCATCACC	0.547000													13	44					7.03913e-09	7.77364e-09	1	1	0
P4HA1	5033	broad.mit.edu	37	10	74803688	74803688	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr10:74803688C>T	ENST00000263556.3	-	9	1345	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	P4HA1_ENST00000412021.2_Intron|P4HA1_ENST00000307116.2_Intron|P4HA1_ENST00000440381.1_Missense_Mutation_p.E369K|P4HA1_ENST00000394890.2_Intron|P4HA1_ENST00000373008.2_Missense_Mutation_p.E369K	NM_000917.3	NP_000908.2	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	369						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTTCCAGTCTCAGGGTCATGT	0.403000													22	129					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24633854	24633854	+	Silent	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr14:24633854C>T	ENST00000396864.3	+	7	968	c.681C>T	c.(679-681)aaC>aaT	p.N227N	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Silent_p.N125N	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	227					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.N227K(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		TCATCTACAACGGGCGCGTGG	0.637000													39	59					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43292234	43292234	+	Silent	SNP	A	A	G			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr10:43292234A>G	ENST00000374518.5	+	10	1605	c.1542A>G	c.(1540-1542)gaA>gaG	p.E514E		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCTCAGCGGAAGAAGGGGAAG	0.502000													16	32					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233398755	233398755	+	Missense_Mutation	SNP	G	G	A	rs145920855		TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr2:233398755G>A	ENST00000258385.3	+	10	1194	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	CHRND_ENST00000457943.2_Missense_Mutation_p.E194K|CHRND_ENST00000543200.1_Missense_Mutation_p.E373K	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	388					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.E388*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CTCCAAGGCCGAGGAGTACTT	0.662000													16	24					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823466	38823466	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr22:38823466G>C	ENST00000303592.3	-	2	930	c.672C>G	c.(670-672)atC>atG	p.I224M		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	224					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGTAGGGCTTGATGAGCTGGG	0.652000													13	14					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132569152	132569152	+	Silent	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr5:132569152G>A	ENST00000265342.7	-	8	1221	c.972C>T	c.(970-972)tcC>tcT	p.S324S	FSTL4_ENST00000507112.1_5'UTR	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	324	Ig-like 1.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTCGTGGCCGGAAGCATGGC	0.537000													14	50					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41859598	41859598	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr15:41859598T>C	ENST00000263798.3	+	7	1048	c.824T>C	c.(823-825)gTg>gCg	p.V275A	TYRO3_ENST00000559066.1_Missense_Mutation_p.V230A	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	275	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGGCTGTTGTGGTCCCTGTG	0.602000													26	59					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325635	31325635	+	Silent	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr18:31325635C>T	ENST00000269197.5	+	12	5823	c.5823C>T	c.(5821-5823)ccC>ccT	p.P1941P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCAGGGGCCCCATTCCTACTG	0.522000													24	11					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14770077	14770077	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr3:14770077C>G	ENST00000253697.3	+	12	2274	c.1822C>G	c.(1822-1824)Cag>Gag	p.Q608E	C3orf20_ENST00000412910.1_Missense_Mutation_p.Q486E|C3orf20_ENST00000435614.1_Missense_Mutation_p.Q486E	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	608						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TTTACGATCTCAGTCAGGCCA	0.493000													20	19					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183129107	183129107	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr2:183129107C>A	ENST00000435564.1	-	2	336	c.136G>T	c.(136-138)Gat>Tat	p.D46Y	PDE1A_ENST00000409365.1_Missense_Mutation_p.D30Y|PDE1A_ENST00000456212.1_Missense_Mutation_p.D46Y|PDE1A_ENST00000331935.6_Missense_Mutation_p.D46Y|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Missense_Mutation_p.D30Y|PDE1A_ENST00000410103.1_Missense_Mutation_p.D46Y|PDE1A_ENST00000358139.2_Missense_Mutation_p.D46Y	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	46					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACGTTAACATCACCTCTTTCC	0.363000													10	37					1.58986e-06	1.69675e-06	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504838	18504838	+	Silent	SNP	C	C	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr9:18504838C>A	ENST00000380548.4	+	2	414	c.75C>A	c.(73-75)acC>acA	p.T25T	ADAMTSL1_ENST00000431052.2_Silent_p.T25T|ADAMTSL1_ENST00000380570.4_Silent_p.T25T|ADAMTSL1_ENST00000327883.7_Silent_p.T25T|ADAMTSL1_ENST00000276935.6_Silent_p.T25T|ADAMTSL1_ENST00000380566.4_Silent_p.T25T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	25						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTTCCAGGACCGCACGCTCCG	0.577000													22	48					3.08376e-08	3.37619e-08	1	1	0
PRDM4	11108	broad.mit.edu	37	12	108134989	108134989	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr12:108134989C>T	ENST00000228437.5	-	10	2117	c.1658G>A	c.(1657-1659)tGc>tAc	p.C553Y	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	553					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GTAAGAATTGCACTCCTTGCC	0.438000													13	81					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32164180	32164180	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr6:32164180C>T	ENST00000375023.3	-	29	5357	c.5219G>A	c.(5218-5220)tGg>tAg	p.W1740*	NOTCH4_ENST00000443903.2_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1740					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGCAGCAGCCCAGTGCAGCGC	0.642000													25	46					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23758280	23758280	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr1:23758280C>T	ENST00000336689.3	-	23	2499	c.2455G>A	c.(2455-2457)Gaa>Aaa	p.E819K	ASAP3_ENST00000437606.2_Missense_Mutation_p.E810K|ASAP3_ENST00000495646.1_Missense_Mutation_p.E323K	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	819					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AGGCCCTCTTCAGAGTTGGGT	0.652000													31	41					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781712	52781712	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr14:52781712C>T	ENST00000245457.5	+	1	600	c.446C>T	c.(445-447)tCg>tTg	p.S149L	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	149						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CGCCGCGTCTCGCGCTCCGGG	0.637000													32	46					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157840066	157840066	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr3:157840066G>A	ENST00000464171.1	+	2	298	c.173G>A	c.(172-174)cGt>cAt	p.R58H	RSRC1_ENST00000475278.2_Missense_Mutation_p.R58H|RSRC1_ENST00000480820.1_Missense_Mutation_p.R58H|RSRC1_ENST00000295930.3_Missense_Mutation_p.R58H|RSRC1_ENST00000312179.6_Missense_Mutation_p.R58H	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	58	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			CTTCAGCCTCGTTCACATTCT	0.323000													15	33					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186379493	186379493	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr4:186379493C>T	ENST00000307588.3	-	6	2323	c.2248G>A	c.(2248-2250)Gta>Ata	p.V750I	CCDC110_ENST00000510617.1_Missense_Mutation_p.V750I|CCDC110_ENST00000393540.3_Missense_Mutation_p.V713I	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	750						nucleus		p.V750I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATGCTTCTTACGTAATTTTCT	0.284000													13	24					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362584	36362584	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr19:36362584G>A	ENST00000221891.4	+	5	800	c.608G>A	c.(607-609)cGt>cAt	p.R203H	APLP1_ENST00000537454.2_Missense_Mutation_p.R164H|APLP1_ENST00000586861.1_Missense_Mutation_p.R197H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	203					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GATCGGTTCCGTGGTGTGGAG	0.637000													14	18					0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76878477	76878477	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr4:76878477C>T	ENST00000356260.5	-	20	1973		c.e20+1		SDAD1_ENST00000395711.4_Splice_Site|AC110615.1_ENST00000599764.1_Splice_Site	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1						protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCTCACTCACCATTGCAGTT	0.378000													19	31					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534610	50534610	+	Silent	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr15:50534610G>A	ENST00000267845.3	-	12	2238	c.1836C>T	c.(1834-1836)gtC>gtT	p.V612V	HDC_ENST00000543581.1_Silent_p.V579V	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	612					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AAAAGATTCTGACCCTGGAGG	0.507000													51	106					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91842569	91842569	+	Silent	SNP	G	G	C			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr7:91842569G>C	ENST00000394507.1	-	18	2748	c.1965C>G	c.(1963-1965)gtC>gtG	p.V655V	KRIT1_ENST00000394505.2_Silent_p.V655V|KRIT1_ENST00000412043.2_Silent_p.V655V|KRIT1_ENST00000340022.2_Silent_p.V655V|KRIT1_ENST00000394503.2_Silent_p.V607V	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	655	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACACAGGGATGACTTTATGAT	0.378000													40	48					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060829	12060829	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr19:12060829C>G	ENST00000482090.1	+	3	2354	c.1936C>G	c.(1936-1938)Caa>Gaa	p.Q646E	ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.Q664E|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTCTTCTTTTCAAATACATGA	0.398000													21	23					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215884514	215884514	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr2:215884514G>C	ENST00000272895.7	-	12	1513	c.1294C>G	c.(1294-1296)Caa>Gaa	p.Q432E	ABCA12_ENST00000389661.4_Missense_Mutation_p.Q114E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	432					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTCGAAGTTGAGACAGCTTT	0.363000													27	27					0	0	1	0	0
POLE4	56655	broad.mit.edu	37	2	75196537	75196537	+	Splice_Site	SNP	T	T	C			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr2:75196537T>C	ENST00000483063.1	+	4	530	c.342T>C	c.(340-342)ggT>ggC	p.G114G		NM_019896.2	NP_063949.2	Q9NR33	DPOE4_HUMAN	polymerase (DNA-directed), epsilon 4, accessory subunit	114					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding			lung(1)	1						TATGTTTAGGTACTTTAGATT	0.478000													73	122					0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33269833	33269833	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr17:33269833G>A	ENST00000314144.5	-	6	822	c.707C>T	c.(706-708)tCa>tTa	p.S236L	CCT6B_ENST00000436961.3_Missense_Mutation_p.S191L|CCT6B_ENST00000421975.3_Intron	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	236					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				ATATTCCAGTGAAACGTTGCA	0.333000													11	44					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151260131	151260131	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr1:151260131G>A	ENST00000368879.2	+	2	1462	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGACGGGCGGGCAGGGCTG	0.627000													19	19					0	0	1	0	0
GPANK1	7918	broad.mit.edu	37	6	31632249	31632249	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr6:31632249G>A	ENST00000375906.1	-	3	691	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	GPANK1_ENST00000375893.2_Missense_Mutation_p.R3W|GPANK1_ENST00000375900.4_Missense_Mutation_p.R3W|GPANK1_ENST00000375895.2_Missense_Mutation_p.R3W|GPANK1_ENST00000375896.4_Missense_Mutation_p.R3W	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	3						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						AGCAAGGGCCGGGACATGGCT	0.582000													11	25					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42824819	42824819	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr17:42824819G>A	ENST00000315005.3	+	12	1138	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	DBF4B_ENST00000393547.2_Missense_Mutation_p.D334N	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	334					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGCAGAAGTGGACAGGATCAT	0.597000													16	24					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22171637	22171637	+	Silent	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr19:22171637C>T	ENST00000397126.4	-	2	226	c.78G>A	c.(76-78)caG>caA	p.Q26Q	ZNF208_ENST00000601773.1_Silent_p.Q26Q|ZNF208_ENST00000599916.1_Silent_p.Q26Q|ZNF208_ENST00000597040.1_5'UTR	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATATAAATTCTGCTGTGCAG	0.398000													79	90					0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3952899	3952899	+	RNA	SNP	A	A	T	rs17410906		TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr4:3952899A>T	ENST00000281228.8	-	0	208				FAM86EP_ENST00000313946.8_RNA																							AGCACCGGGCATACTTGACTG	0.557000													4	26					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176316680	176316680	+	Silent	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr5:176316680C>T	ENST00000292432.5	-	7	787	c.696G>A	c.(694-696)ccG>ccA	p.P232P		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	232	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTGACCCCCGGCTCACAGC	0.592000													7	24					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135797314	135797314	+	Nonsense_Mutation	SNP	G	G	C	rs118203398		TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr9:135797314G>C	ENST00000298552.3	-	7	776	c.555C>G	c.(553-555)taC>taG	p.Y185*	TSC1_ENST00000545250.1_Nonsense_Mutation_p.Y134*|TSC1_ENST00000440111.2_Nonsense_Mutation_p.Y185*|TSC1_ENST00000403810.1_Nonsense_Mutation_p.Y185*|TSC1_ENST00000475903.1_5'UTR	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	185					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.Y185Y(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GAAAGAGTGCGTACACACTGG	0.463000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				20	12					0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32264924	32264924	+	Silent	SNP	G	G	C			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr20:32264924G>C	ENST00000343380.5	-	6	1192	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	351	Required for interaction with TRIM28.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTCCAGGCTGAGTAGAGACT	0.642000													5	12					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67865151	67865151	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr16:67865151C>T	ENST00000562787.1	-	10	1219	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000564817.1_Missense_Mutation_p.R224Q|CENPT_ENST00000440851.2_Missense_Mutation_p.R224Q|CENPT_ENST00000219172.3_Missense_Mutation_p.R224Q|CENPT_ENST00000445712.2_Missense_Mutation_p.R121Q	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	224					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCGCAGATCCCGCAAAAAGGC	0.592000													29	51					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1414004	1414004	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr3:1414004C>A	ENST00000446702.2	+	13	2141	c.1514C>A	c.(1513-1515)cCa>cAa	p.P505Q	CNTN6_ENST00000350110.2_Missense_Mutation_p.P505Q|CNTN6_ENST00000539053.1_Missense_Mutation_p.P433Q			Q9UQ52	CNTN6_HUMAN	contactin 6	505	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTACCGTCCCACCTTCCAAA	0.363000													28	54					7.26314e-15	8.163e-15	1	1	0
U2AF1	7307	broad.mit.edu	37	21	44524472	44524472	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr21:44524472G>T	ENST00000291552.4	-	2	177	c.85C>A	c.(85-87)Cat>Aat	p.H29N	U2AF1_ENST00000380276.2_Missense_Mutation_p.H29N|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	29					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						CTGTCTCCATGACGACATGCT	0.358000			Mis		"""CLL, MDS"""								12	29					0.000219431	0.000226567	1	1	0
UBA6	55236	broad.mit.edu	37	4	68492087	68492087	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr4:68492087C>T	ENST00000322244.5	-	28	2568	c.2509G>A	c.(2509-2511)Gcc>Acc	p.A837T		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CTTTTGGTGGCTTCATTAGAT	0.333000													26	63					0	0	1	0	0
GPS1	2873	broad.mit.edu	37	17	80013651	80013651	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr17:80013651G>C	ENST00000392358.2	+	7	1253	c.904G>C	c.(904-906)Gct>Cct	p.A302P	GPS1_ENST00000355130.2_Missense_Mutation_p.A302P|GPS1_ENST00000320548.4_Missense_Mutation_p.A246P|GPS1_ENST00000306823.6_Missense_Mutation_p.A266P|GPS1_ENST00000578552.1_Missense_Mutation_p.A262P	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	266					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GTACAAGCAGGCTGCCAAGTG	0.647000													3	3					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158623104	158623104	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr1:158623104G>T	ENST00000368147.4	-	22	3328	c.3148C>A	c.(3148-3150)Cca>Aca	p.P1050T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATGTTTCCTGGCTCTTCTCGT	0.537000													38	54					4.92203e-23	5.63151e-23	1	1	0
KRT20	54474	broad.mit.edu	37	17	39041346	39041346	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr17:39041346G>A	ENST00000167588.3	-	1	133	c.92C>T	c.(91-93)aCg>aTg	p.T31M		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	31	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GCTGGGTGTCGTCCCGAGGCG	0.607000													20	36					0	0	1	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77492996	77492996	+	Silent	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr14:77492996G>A	ENST00000238647.3	-	1	2038	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	380						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CTGCCAGCGTGAGCAGCGTGT	0.687000													12	14					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7129299	7129299	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr17:7129299G>A	ENST00000005340.5	-	15	2378	c.2096C>T	c.(2095-2097)cCg>cTg	p.P699L	DVL2_ENST00000575458.1_Missense_Mutation_p.P693L	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	699					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						AGGGGCCCCCGGAGGCTGCAC	0.647000													17	30					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43885491	43885491	+	Silent	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr1:43885491G>A	ENST00000562955.1	+	8	966	c.966G>A	c.(964-966)ggG>ggA	p.G322G		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	322						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAACATTTGGGTCCTACCTGT	0.517000													3	48					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16967341	16967341	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr10:16967341G>C	ENST00000377833.4	-	43	6610	c.6545C>G	c.(6544-6546)tCa>tGa	p.S2182*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2182	CUB 15.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAACAGAGTTGATGAAGCATG	0.388000													14	23					0	0	1	0	0
GHITM	27069	broad.mit.edu	37	10	85901216	85901216	+	Splice_Site	SNP	A	A	G			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr10:85901216A>G	ENST00000372134.3	+	2	154		c.e2-1			NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein						apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TTTTTAAACTAGCATTTCAGA	0.438000													16	32					0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67479134	67479134	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr8:67479134C>G	ENST00000522677.3	-	13	2232	c.1822G>C	c.(1822-1824)Gct>Cct	p.A608P	MYBL1_ENST00000524176.2_Missense_Mutation_p.A608P|MYBL1_ENST00000522419.1_5'UTR|MYBL1_ENST00000517885.1_Missense_Mutation_p.A266P	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	608					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CTTTTGTAAGCAGGTTCATCT	0.343000													6	28					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158224891	158224891	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr4:158224891G>C	ENST00000296526.7	+	3	742	c.417G>C	c.(415-417)ttG>ttC	p.L139F	GRIA2_ENST00000393815.2_Missense_Mutation_p.L92F|GRIA2_ENST00000264426.9_Missense_Mutation_p.L139F|GRIA2_ENST00000449365.1_Missense_Mutation_p.L92F|GRIA2_ENST00000507898.1_Missense_Mutation_p.L92F	NM_000826.3	NP_000817	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	139					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCCTTAGCTTGATTGAATACT	0.458000													26	54					0	0	1	0	0
NUDT17	200035	broad.mit.edu	37	1	145586858	145586858	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr1:145586858C>G	ENST00000334513.5	-	7	841	c.830G>C	c.(829-831)aGa>aCa	p.R277T		NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	277							hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGTGCTGACTCTCTCTTTGTC	0.547000													42	82					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621397	32621397	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr8:32621397C>T	ENST00000338921.4	+	13	1941	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	NRG1_ENST00000519301.1_Missense_Mutation_p.A417V|NRG1_ENST00000356819.4_Missense_Mutation_p.A472V|NRG1_ENST00000405005.3_Missense_Mutation_p.A467V|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000539990.1_Missense_Mutation_p.A310V|NRG1_ENST00000287845.5_Missense_Mutation_p.A438V|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.A464V			Q02297	NRG1_HUMAN	neuregulin 1	467					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTTCCATGGCGGTCAGCCCC	0.562000													25	48					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	102					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117232655	117232655	+	Silent	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr11:117232655C>T	ENST00000278935.3	+	6	645	c.498C>T	c.(496-498)agC>agT	p.S166S		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	166	Interaction with ATRIP.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GATCTCAAAGCGTGAGCCTGG	0.557000													49	81					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111064	81111064	+	Silent	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr12:81111064C>T	ENST00000228644.3	+	1	374	c.222C>T	c.(220-222)gcC>gcT	p.A74A		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	74					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCTGCAAAGCCTGCAAGAGGA	0.622000													22	30					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117704596	117704596	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr6:117704596C>A	ENST00000368508.3	-	16	2578	c.2380G>T	c.(2380-2382)Gtg>Ttg	p.V794L	ROS1_ENST00000368507.3_Missense_Mutation_p.V789L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	794					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTGAATCCACCACCATGTCA	0.448000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								30	79					1.08312e-15	1.22818e-15	1	1	0
ATP8B1	5205	broad.mit.edu	37	18	55351394	55351394	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr18:55351394C>T	ENST00000536015.1	-	15	1623	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.D502N|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	502					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AGCTTCCCATCAGCATATGTA	0.348000													11	5					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93705002	93705002	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr1:93705002G>C	ENST00000343253.7	+	20	3238	c.2736G>C	c.(2734-2736)aaG>aaC	p.K912N	CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.K913N|CCDC18_ENST00000334652.5_Missense_Mutation_p.K208N|CCDC18_ENST00000557479.1_Missense_Mutation_p.K1031N|CCDC18_ENST00000338949.4_Missense_Mutation_p.K668N			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	912										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ATCAGACAAAGACAGAGCTAG	0.343000													21	22					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123205034	123205034	+	Silent	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chrX:123205034C>T	ENST00000371160.1	+	25	2684	c.2394C>T	c.(2392-2394)ttC>ttT	p.F798F	STAG2_ENST00000371145.3_Silent_p.F798F|STAG2_ENST00000371157.3_Silent_p.F798F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.F798F|STAG2_ENST00000371144.3_Silent_p.F798F|STAG2_ENST00000354548.5_Silent_p.F729F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	798					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGATGATCTTCAGCCATCAGA	0.383000													59	19					0	0	1	0	0
H2AFZ	3015	broad.mit.edu	37	4	100869656	100869656	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr4:100869656G>A	ENST00000296417.5	-	5	567	c.350C>T	c.(349-351)tCt>tTt	p.S117F	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	117					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CCCAATCAGAGATTTGTGGAT	0.373000													29	36					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137495798	137495798	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr5:137495798C>T	ENST00000254900.5	-	19	2863	c.2492G>A	c.(2491-2493)cGa>cAa	p.R831Q	BRD8_ENST00000230901.5_Missense_Mutation_p.R904Q|BRD8_ENST00000402931.1_Missense_Mutation_p.R831Q|BRD8_ENST00000455658.2_Missense_Mutation_p.R790Q|BRD8_ENST00000411594.2_Missense_Mutation_p.R834Q	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	831					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCTCTCCCTCGAAGACTTTT	0.502000													38	57					0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3952901	3952901	+	RNA	SNP	A	A	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr4:3952901A>T	ENST00000281228.8	-	0	206				FAM86EP_ENST00000313946.8_RNA																							CACCGGGCATACTTGACTGAC	0.552000													4	27					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75282841	75282841	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr11:75282841C>A	ENST00000524558.1	+	5	2405	c.970C>A	c.(970-972)Ctg>Atg	p.L324M	SERPINH1_ENST00000533603.1_Missense_Mutation_p.L324M|SERPINH1_ENST00000358171.3_Missense_Mutation_p.L324M|SERPINH1_ENST00000525876.1_Missense_Mutation_p.L107M			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	324					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CCTGGCTGGGCTGGGCCTGAC	0.607000													10	21					7.48243e-07	8.05312e-07	1	1	0
ARID2	196528	broad.mit.edu	37	12	46244184	46244184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr12:46244184C>T	ENST00000334344.6	+	15	2450	c.2278C>T	c.(2278-2280)Cag>Tag	p.Q760*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q611*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q370*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	760					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGTGAATTCTCAGACATTGCT	0.458000			"""N, S, F"""		hepatocellular carcinoma								13	3					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													4	97					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229676448	229676448	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr1:229676448C>G	ENST00000344517.4	-	5	1150	c.1108G>C	c.(1108-1110)Gaa>Caa	p.E370Q		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	370	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TCAGTCATTTCTTTCCCAAAA	0.428000													34	48					0	0	1	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591029	234591029	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr2:234591029C>T	ENST00000373426.3	+	1	446	c.446C>T	c.(445-447)cCt>cTt	p.P149L	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTTCTCGATCCTTTTGATGCC	0.383000													70	81					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48887364	48887364	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr8:48887364C>G	ENST00000262105.2	+	14	2416	c.2207C>G	c.(2206-2208)tCa>tGa	p.S736*	MCM4_ENST00000523944.1_Nonsense_Mutation_p.S736*	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	736					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CAGCTAGAGTCATTAATCCGC	0.453000													58	103					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069338	153069338	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chrX:153069338C>G	ENST00000164640.4	-	8	1971	c.1780G>C	c.(1780-1782)Gag>Cag	p.E594Q	PDZD4_ENST00000544474.1_Missense_Mutation_p.E485Q|PDZD4_ENST00000393758.2_Missense_Mutation_p.E519Q	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	594						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCTCCTCCAGGCCTCGC	0.731000													5	3					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48593519	48593519	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr18:48593519G>A	ENST00000342988.3	+	10	1808	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	SMAD4_ENST00000588745.1_Missense_Mutation_p.D328N|SMAD4_ENST00000398417.2_Missense_Mutation_p.D424N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	424	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGCACCTGGAGATGCTGTTCA	0.388000													27	11					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209210818	209210818	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr2:209210818C>T	ENST00000264380.4	+	34	5314	c.5156C>T	c.(5155-5157)cCt>cTt	p.P1719L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1719					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATCAGATTACCTGAAATGAGT	0.313000													37	45					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74835125	74835125	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr1:74835125G>A	ENST00000370895.1	+	18	1861	c.1826G>A	c.(1825-1827)cGa>cAa	p.R609Q	RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R622Q|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R609Q|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R508Q|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R609Q			Q59H18	TNI3K_HUMAN		508	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ATGTTTTGCCGAGAGGTGTCC	0.453000													28	32					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				12	5					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123205142	123205142	+	Silent	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chrX:123205142C>T	ENST00000371160.1	+	25	2792	c.2502C>T	c.(2500-2502)ttC>ttT	p.F834F	STAG2_ENST00000371145.3_Silent_p.F834F|STAG2_ENST00000371157.3_Silent_p.F834F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.F834F|STAG2_ENST00000371144.3_Silent_p.F834F|STAG2_ENST00000354548.5_Silent_p.F765F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	834					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATCATGTCTTCATTGAACAGG	0.353000													48	14					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52078052	52078052	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr12:52078052T>C	ENST00000354534.6	+	3	549	c.371T>C	c.(370-372)aTa>aCa	p.I124T	SCN8A_ENST00000550891.1_Missense_Mutation_p.I124T|SCN8A_ENST00000545061.1_Missense_Mutation_p.I124T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATAAGAAGAATAGCTATTAAA	0.373000													8	19					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193158	152193158	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr1:152193158G>A	ENST00000368801.2	-	3	1022	c.947C>T	c.(946-948)tCg>tTg	p.S316L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	316					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGTGCCCCGAACCGGACCC	0.607000													51	61					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14752244	14752244	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr19:14752244C>A	ENST00000253673.5	-	10	1335	c.1235G>T	c.(1234-1236)cGa>cTa	p.R412L	EMR3_ENST00000344373.4_Missense_Mutation_p.R360L|EMR3_ENST00000443157.2_Missense_Mutation_p.R286L|EMR3_ENST00000599900.1_Missense_Mutation_p.R197L	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	412					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGGTTCAGTTCGATCAATCCC	0.532000													7	21					5.18039e-06	5.48258e-06	1	1	0
GRM5	2915	broad.mit.edu	37	11	88780486	88780486	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr11:88780486G>T	ENST00000418177.2	-	2	922	c.555C>A	c.(553-555)ttC>ttA	p.F185L	GRM5_ENST00000393294.3_Missense_Mutation_p.F185L|GRM5_ENST00000305432.5_Missense_Mutation_p.F185L|GRM5_ENST00000305447.4_Missense_Mutation_p.F185L|GRM5_ENST00000455756.2_Missense_Mutation_p.F185L|GRM5_ENST00000393297.1_Missense_Mutation_p.F185L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	185					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGAAATATTTGAACAGAGTCT	0.473000													16	20					3.41278e-10	3.80196e-10	1	1	0
PLCH2	9651	broad.mit.edu	37	1	2411267	2411267	+	Silent	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr1:2411267C>T	ENST00000449969.1	+	3	446	c.285C>T	c.(283-285)ttC>ttT	p.F95F	PLCH2_ENST00000419816.2_Silent_p.F122F|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Silent_p.F122F|PLCH2_ENST00000378486.3_Silent_p.F122F			O75038	PLCH2_HUMAN	phospholipase C, eta 2	122	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACTGCTGCTTCAGCATCTACC	0.667000													6	8					0	0	1	0	0
RARA	5914	broad.mit.edu	37	17	38508601	38508601	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr17:38508601C>T	ENST00000254066.5	+	6	1104	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	RARA_ENST00000394081.3_Missense_Mutation_p.R212C|RARA_ENST00000394086.3_Missense_Mutation_p.R233C|RARA_ENST00000425707.3_Missense_Mutation_p.R120C|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.R217C	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	217	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CTCAGAACAACGTGTCTCTCT	0.582000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								36	47					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582808	179582808	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr2:179582808C>T	ENST00000589042.1	-	86	25149	c.24925G>A	c.(24925-24927)Gca>Aca	p.A8309T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A7065T|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7992T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7992	Ig-like 65.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTATATGCAGGAGCTGAT	0.383000													35	48					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74354454	74354454	+	Missense_Mutation	SNP	T	T	G	rs143919745	by1000genomes	TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr4:74354454T>G	ENST00000226355.3	+	7	914	c.821T>G	c.(820-822)gTt>gGt	p.V274G		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	274	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAGGGGATGTTGTGCAGTGC	0.363000													5	95					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100847780	100847780	+	Silent	SNP	T	T	C			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr8:100847780T>C	ENST00000358544.2	+	54	9942	c.9831T>C	c.(9829-9831)ttT>ttC	p.F3277F	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.F3252F	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3277					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCAAAGTTTGAGGTTTATT	0.378000													21	38					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930543	46930543	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr4:46930543G>A	ENST00000264318.3	-	9	2346	c.1364C>T	c.(1363-1365)tCt>tTt	p.S455F		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	455					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGAAGTAGGAGAAGCAGATGG	0.478000													33	46					0	0	1	0	0
SSBP1	6742	broad.mit.edu	37	7	141450136	141450136	+	Silent	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr7:141450136G>A	ENST00000481508.1	+	7	864	c.429G>A	c.(427-429)caG>caA	p.Q143Q	SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000484178.1_Silent_p.Q143Q|SSBP1_ENST00000465582.1_Silent_p.Q143Q|SSBP1_ENST00000498107.1_Silent_p.Q143Q|SSBP1_ENST00000265304.6_Silent_p.Q143Q	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	143					DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					TGAGTGACCAGACGAAAGAGA	0.333000													5	22					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23758267	23758267	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr1:23758267C>T	ENST00000336689.3	-	23	2512	c.2468G>A	c.(2467-2469)cGa>cAa	p.R823Q	ASAP3_ENST00000437606.2_Missense_Mutation_p.R814Q|ASAP3_ENST00000495646.1_Missense_Mutation_p.R327Q	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	823					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGGGGGCTCTCGGAGGCCCTC	0.652000													33	38					0	0	1	0	0
PCED1A	64773	broad.mit.edu	37	20	2820464	2820464	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr20:2820464T>G	ENST00000360652.2	-	2	597	c.95A>C	c.(94-96)aAc>aCc	p.N32T	PCED1A_ENST00000356872.3_Missense_Mutation_p.N32T	NM_022760.4	NP_073597.2			PC-esterase domain containing 1A																		CACGAACTTGTTGTGTAGCAG	0.607000													31	22					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088187	92088187	+	Silent	SNP	C	C	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr14:92088187C>T	ENST00000256343.3	-	19	2181	c.2025G>A	c.(2023-2025)aaG>aaA	p.K675K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	675					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.K675N(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTAATGCATTCTTATTATCTA	0.423000													38	54					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51826874	51826874	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr1:51826874G>A	ENST00000371733.3	-	24	2609	c.2513C>T	c.(2512-2514)gCt>gTt	p.A838V	EPS15_ENST00000371730.2_Missense_Mutation_p.A704V|EPS15_ENST00000396122.4_Missense_Mutation_p.A515V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	838	Pro-rich.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GCTTGGATCAGCCTCTTTATT	0.403000			T	MLL	ALL								28	50					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234541779	234541779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr1:234541779G>A	ENST00000040877.1	-	24	3858	c.3859C>T	c.(3859-3861)Cga>Tga	p.R1287*	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1287					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCATACAGTCGAACACTAAAA	0.383000													36	36					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51969576	51969576	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr13:51969576G>T	ENST00000311234.4	-	5	945	c.473C>A	c.(472-474)aCc>aAc	p.T158N	INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.T145N|INTS6_ENST00000420668.2_Intron|INTS6_ENST00000497989.1_5'UTR|INTS6_ENST00000463928.1_Missense_Mutation_p.T158N	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	158	VWFA.				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AGGTTCCTTGGTCAATTCACT	0.413000													15	26					0.000308642	0.000316109	1	1	0
LINC01162	104355138	broad.mit.edu	37	7	20883571	20883571	+	RNA	DEL	G	G	-			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr7:20883571delG	ENST00000447262.2	+	0	74																											CATGACCCCCGCCAAAGCCCA	0.458													7	9	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151873694	151873694	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr7:151873694delG	ENST00000355193.2	-	38	9062	c.8844delC	c.(8842-8844)tccfs	p.S2948fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.S2948fs					lysine (K)-specific methyltransferase 2C																		ACACATGATTGGATGGGGAGG	0.473													16	24	---	---	---	---					
RAI1	10743	broad.mit.edu	37	17	17699846	17699847	+	Frame_Shift_Ins	INS	-	-	G			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr17:17699846_17699847insG	ENST00000353383.1	+	3	4053_4054	c.3584_3585insG	c.(3583-3588)aaggagfs	p.E1196fs	RAI1_ENST00000261641.6_Frame_Shift_Ins_p.E1196fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1196						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGCCCCCAGAAGGAGGGCAGGG	0.649													21	27	---	---	---	---					
TM6SF2	53345	broad.mit.edu	37	19	19383949	19383949	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr19:19383949delG	ENST00000389363.4	-	1	148	c.76delC	c.(76-78)cacfs	p.H26fs	TM6SF2_ENST00000586107.1_5'UTR|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	26						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GCCGAGACGTGGTTGAGCGCG	0.751													2	4	---	---	---	---					
SCARF2	91179	broad.mit.edu	37	22	20791941	20791943	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chr22:20791941_20791943delAGC	ENST00000405555.3	-	1	169_171	c.99_101delGCT	c.(97-102)ctgctc>ctc	p.33_34LL>L	SCARF2_ENST00000266214.5_In_Frame_Del_p.33_34LL>L	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	33					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CAGCATCCAGagcagcagcagca	0.778													2	4	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44922720	44922726	+	Frame_Shift_Del	DEL	AACAGCT	AACAGCT	-			TCGA-4Z-AA83-01A-11D-A391-08	TCGA-4Z-AA83-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05b8b7c4-3332-4f70-9bba-ebba5ec80dbe	437b661a-6f5f-4be7-adfa-8e7601d630c2	g.chrX:44922720_44922726delAACAGCT	ENST00000377967.4	+	16	1622_1628	c.1581_1587delAACAGCT	c.(1579-1587)ccaacagctfs	p.PTA527fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.PTA448fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.PTA482fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.PTA534fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	527					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTAATGGGCCAACAGCTGACTCATCAC	0.498			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								28	6	---	---	---	---