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
SLC24A1	9187	broad.mit.edu	37	15	65917344	65917344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:65917344G>A	ENST00000261892.6	+	2	1213	c.926G>A	c.(925-927)gGa>gAa	p.G309E	SLC24A1_ENST00000399033.4_Missense_Mutation_p.G309E|SLC24A1_ENST00000339868.6_Missense_Mutation_p.G309E|SLC24A1_ENST00000544319.2_Missense_Mutation_p.G309E|SLC24A1_ENST00000546330.1_Missense_Mutation_p.G309E|SLC24A1_ENST00000537259.1_Missense_Mutation_p.G309E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	309					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACTCCCCAGGGAACAGTCCTG	0.552000													82	45					0	0	0.139131	0	0
LINC01317	104355287	broad.mit.edu	37	2	33952207	33952207	+	RNA	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:33952207G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GGCGGTCCCAGATACACACAA	0.577000													3	6					0	0	0.115264	0	0
NPTN	27020	broad.mit.edu	37	15	73889472	73889472	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:73889472G>A	ENST00000345330.4	-	2	527	c.330C>T	c.(328-330)gaC>gaT	p.D110D	NPTN_ENST00000287226.8_Silent_p.D110D|NPTN_ENST00000562924.1_Intron|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000545878.1_Silent_p.D110D|NPTN_ENST00000351217.6_Intron|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000563691.1_Silent_p.D110D	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	110	Ig-like 1.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						AAGTCCCAGAGTCCTCCAAGG	0.587000													9	81					0	0	0.047766	0	0
BDP1	55814	broad.mit.edu	37	5	70805733	70805733	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:70805733C>T	ENST00000358731.4	+	17	3077	c.2814C>T	c.(2812-2814)tcC>tcT	p.S938S	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	938	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAGAAATATCCCCACAGAAAA	0.463000													29	51					0	0	0.144211	0	0
DTNBP1	84062	broad.mit.edu	37	6	15533577	15533577	+	Silent	SNP	G	G	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:15533577G>C	ENST00000338950.5	-	8	666	c.561C>G	c.(559-561)acC>acG	p.T187T	DTNBP1_ENST00000344537.5_Silent_p.T187T|DTNBP1_ENST00000355917.3_Silent_p.T188T|DTNBP1_ENST00000462989.2_Silent_p.T31T	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	187	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCATTTGCTGGGTGTGCTCCA	0.522000									Hermansky-Pudlak syndrome				23	200					0	0	0.091800	0	0
ZFHX3	463	broad.mit.edu	37	16	72828383	72828383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:72828383C>T	ENST00000268489.5	-	9	8870	c.8198G>A	c.(8197-8199)cGt>cAt	p.R2733H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1819H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2733					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATGCCAGTGACGGGACCGGAT	0.542000													7	50					0	0	0.058154	0	0
XIST	7503	broad.mit.edu	37	X	73067839	73067839	+	RNA	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chrX:73067839G>A	ENST00000429829.1	-	0	4749					NR_001564.2																						GTCTTGACTAGAGGTCATCCA	0.418000													25	6					0	0	0.108266	0	0
PTH2R	5746	broad.mit.edu	37	2	209302538	209302538	+	Silent	SNP	T	T	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:209302538T>C	ENST00000272847.2	+	4	556	c.343T>C	c.(343-345)Tta>Cta	p.L115L	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	115						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TATGCACAGCTTAAATAAAAC	0.408000													19	32					0	0	0.049695	0	0
ROBO2	6092	broad.mit.edu	37	3	77607240	77607240	+	Silent	SNP	G	G	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:77607240G>T	ENST00000461745.1	+	9	2277	c.1377G>T	c.(1375-1377)ccG>ccT	p.P459P	ROBO2_ENST00000487694.3_Silent_p.P475P|ROBO2_ENST00000332191.8_Silent_p.P459P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	459	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.P475P(1)|p.P459P(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTACTTTTCCGGGTAGAGATC	0.418000													15	74					1.5739e-10	1.63635e-10	0.146539	1	0
CBL	867	broad.mit.edu	37	11	119155689	119155689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:119155689C>T	ENST00000264033.4	+	10	1818	c.1442C>T	c.(1441-1443)cCg>cTg	p.P481L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	481	Pro-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GTGGAACGGCCGCCTTCTCCA	0.502000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	21					0	0	0.139131	0	0
TAS2R43	259289	broad.mit.edu	37	12	11244556	11244556	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:11244556G>A	ENST00000531678.1	-	1	356	c.273C>T	c.(271-273)atC>atT	p.I91I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	91					detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGAAATGGTTGATCACTGCCC	0.358000													9	52					0	0	0.080935	0	0
ELANE	1991	broad.mit.edu	37	19	856086	856086	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:856086C>T	ENST00000590230.1	+	6	867	c.726C>T	c.(724-726)atC>atT	p.I242I	ELANE_ENST00000263621.1_Silent_p.I242I			P08246	ELNE_HUMAN	elastase, neutrophil expressed	242	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TAAACTGGATCGACTCTATCA	0.652000													87	160					0	0	0.139131	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48578067	48578067	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:48578067G>A	ENST00000354276.3	-	12	1290	c.963C>T	c.(961-963)tcC>tcT	p.S321S	PLA2G4C_ENST00000599111.1_Silent_p.S331S|PLA2G4C_ENST00000413144.2_Silent_p.S321S|PLA2G4C_ENST00000599921.1_Silent_p.S321S	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	321	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GCTTTTCCAGGGAGGTCCTGG	0.532000													69	123					0	0	0.139131	0	0
MAST3	23031	broad.mit.edu	37	19	18232549	18232549	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:18232549C>T	ENST00000262811.5	+	3	126	c.126C>T	c.(124-126)ctC>ctT	p.L42L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	42							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCCGACCCTCTCCCGGCCCC	0.697000													57	93					0	0	0.139131	0	0
APAF1	317	broad.mit.edu	37	12	99071326	99071326	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:99071326A>T	ENST00000357310.1	+	13	2494	c.1917A>T	c.(1915-1917)ttA>ttT	p.L639F	APAF1_ENST00000550527.1_Missense_Mutation_p.L628F|APAF1_ENST00000549007.1_Missense_Mutation_p.L639F|APAF1_ENST00000547045.1_Missense_Mutation_p.L639F|APAF1_ENST00000359972.2_Missense_Mutation_p.L628F|APAF1_ENST00000339433.3_Missense_Mutation_p.L639F|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.L639F	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	639				L -> F (in Ref. 2; CAB55583).	activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATAAAACCTTACAGGTAAAAC	0.403000													9	46					0	0	0.058154	0	0
CAPN9	10753	broad.mit.edu	37	1	230930937	230930937	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:230930937G>T	ENST00000354537.1	+	17	1903	c.1821G>T	c.(1819-1821)caG>caT	p.Q607H	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.Q570H|CAPN9_ENST00000480004.1_3'UTR|CAPN9_ENST00000271971.2_Missense_Mutation_p.Q633H	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	633	Domain IV.|EF-hand 3.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ACCTCCTGCAGCTGATTGTGC	0.592000													24	50					1.1804e-14	1.24703e-14	0.091800	1	0
ZAN	7455	broad.mit.edu	37	7	100350192	100350192	+	RNA	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:100350192C>T	ENST00000542585.1	+	0	2612				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATGGAAAAACCCACTCTCCC	0.512000													31	37					0	0	0.045705	0	0
GGA2	23062	broad.mit.edu	37	16	23497448	23497448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:23497448G>A	ENST00000309859.4	-	8	768	c.686C>T	c.(685-687)tCc>tTc	p.S229F	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	229	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GACCCTCTTGGACACCTTCTC	0.572000													36	61					0	0	0.092188	0	0
CFHR4	10877	broad.mit.edu	37	1	196883755	196883755	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:196883755C>T	ENST00000367416.2	+	8	1445	c.1308C>T	c.(1306-1308)tcC>tcT	p.S436S	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Silent_p.S190S|CFHR4_ENST00000251424.4_Silent_p.S190S	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CCACAGGTTCCATAGTGTGTG	0.373000													25	40					0	0	0.116897	0	0
LRP4	4038	broad.mit.edu	37	11	46895101	46895101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:46895101G>A	ENST00000378623.1	-	29	4515	c.4273C>T	c.(4273-4275)Cga>Tga	p.R1425*	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1425					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTCAGCCCTCGCCCGATCACT	0.582000													87	37					0	0	0.139131	0	0
POTEF	728378	broad.mit.edu	37	2	130877866	130877866	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:130877866T>C	ENST00000357462.5	-	1	316	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	POTEF_ENST00000409914.2_Missense_Mutation_p.S75G|POTEF_ENST00000360967.5_Missense_Mutation_p.S75G|POTEF_ENST00000361163.4_Missense_Mutation_p.S75G			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	75						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCTTGCCACTCCCCCTGCAG	0.592000													5	192					0	0	0.014758	0	0
AKAP10	11216	broad.mit.edu	37	17	19866217	19866217	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:19866217A>C	ENST00000225737.6	-	3	412	c.255T>G	c.(253-255)agT>agG	p.S85R	AKAP10_ENST00000572155.1_5'UTR|AKAP10_ENST00000395536.3_Missense_Mutation_p.S85R	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	85					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CTGTCCTGCTACTTGAAAAGG	0.443000													45	90					0	0	0.139131	0	0
KBTBD13	390594	broad.mit.edu	37	15	65369261	65369261	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:65369261C>T	ENST00000432196.2	+	1	108	c.108C>T	c.(106-108)ttC>ttT	p.F36F		NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	36	BTB.					cytoplasm				lung(1)|prostate(1)|skin(1)	3						GAGGCCTCTTCCGCTCCGGCA	0.721000													5	4					0	0	0.014758	0	0
BRPF1	7862	broad.mit.edu	37	3	9780745	9780745	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:9780745A>G	ENST00000383829.2	+	3	1066	c.662A>G	c.(661-663)gAc>gGc	p.D221G	BRPF1_ENST00000433861.2_Missense_Mutation_p.D221G|BRPF1_ENST00000302054.3_Missense_Mutation_p.D221G|BRPF1_ENST00000424362.1_Missense_Mutation_p.D221G|BRPF1_ENST00000457855.1_Missense_Mutation_p.D221G	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	221	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GACGAGGAGGACTACATCTGG	0.507000													34	12					0	0	0.104719	0	0
FAM83E	54854	broad.mit.edu	37	19	49106808	49106808	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:49106808G>A	ENST00000263266.3	-	4	1308	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	373										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGTCCCACATGGAGCGGCTgg	0.687000													12	21					0	0	0.132662	0	0
PAMR1	25891	broad.mit.edu	37	11	35454038	35454038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:35454038C>T	ENST00000378880.2	-	11	2474	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	PAMR1_ENST00000278360.3_Missense_Mutation_p.A694T|PAMR1_ENST00000532848.1_Missense_Mutation_p.A637T|PAMR1_ENST00000378878.3_Missense_Mutation_p.A566T	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	677	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TCAGGAGATGCTCGTCCCGGG	0.577000													24	69					0	0	0.116897	0	0
ITGAE	3682	broad.mit.edu	37	17	3618181	3618181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:3618181G>A	ENST00000263087.4	-	31	3598	c.3500C>T	c.(3499-3501)gCc>gTc	p.A1167V		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	1167					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTTCAGCTGGGCCTTCCTGAT	0.468000													10	28					0	0	0.080935	0	0
PDGFRA	5156	broad.mit.edu	37	4	55144678	55144678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:55144678C>T	ENST00000257290.5	+	15	2483	c.2152C>T	c.(2152-2154)Cgg>Tgg	p.R718W	FIP1L1_ENST00000507166.1_Missense_Mutation_p.R478W	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	718	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAAAGCACACGGAGGTGGGT	0.443000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			6	67					0	0	0.029380	0	0
SLC26A2	1836	broad.mit.edu	37	5	149357913	149357913	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:149357913A>G	ENST00000286298.4	+	2	966	c.699_splice	c.e2+1	p.Q233_splice		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	233						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAGTTTATCAGGTAAGCAGC	0.348000													3	78					0	0	0.115264	0	0
TJP1	7082	broad.mit.edu	37	15	30001210	30001210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:30001210G>A	ENST00000346128.6	-	25	4877	c.4403C>T	c.(4402-4404)tCc>tTc	p.S1468F	TJP1_ENST00000545208.2_Missense_Mutation_p.S1388F|TJP1_ENST00000356107.6_Missense_Mutation_p.S1468F|TJP1_ENST00000400011.2_Missense_Mutation_p.S1392F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1468					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGACACTAAGGAATTCTGAAA	0.408000													42	23					0	0	0.124865	0	0
SELENBP1	8991	broad.mit.edu	37	1	151341502	151341502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:151341502G>A	ENST00000426705.2	-	4	608	c.464C>T	c.(463-465)cCc>cTc	p.P155L	SELENBP1_ENST00000447402.3_Intron|SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000368868.5_Missense_Mutation_p.P113L|SELENBP1_ENST00000435071.1_Missense_Mutation_p.P49L	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	113					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			TGGGGCCCGGGGCTCAGAGCC	0.607000													32	56					0	0	0.080422	0	0
ROR2	4920	broad.mit.edu	37	9	94487029	94487029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr9:94487029C>T	ENST00000375708.3	-	9	1945	c.1747G>A	c.(1747-1749)Gtg>Atg	p.V583M	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.V443M	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	583	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCGGACTTCACCGTGCGGTCA	0.627000													13	7					0	0	0.119110	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1341922	1341922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:1341922G>A	ENST00000320895.5	-	3	574	c.317C>T	c.(316-318)gCc>gTc	p.A106V	CLPTM1L_ENST00000320927.6_Missense_Mutation_p.A106V	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	106					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GAAGATGTAGGCATACAGCGT	0.488000													16	29					0	0	0.043863	0	0
TNR	7143	broad.mit.edu	37	1	175375841	175375841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:175375841C>T	ENST00000367674.1	-	3	718	c.10G>A	c.(10-12)Gat>Aat	p.D4N	TNR_ENST00000263525.2_Missense_Mutation_p.D4N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	4					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTTCCCCATCTGCCCCCATC	0.532000													46	70					0	0	0.139131	0	0
SKOR2	652991	broad.mit.edu	37	18	44775145	44775145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr18:44775145G>A	ENST00000425639.1	-	1	409	c.410C>T	c.(409-411)cCc>cTc	p.P137L	SKOR2_ENST00000400404.1_Missense_Mutation_p.P137L	NM_001278063.1	NP_001264992.1	Q2VWA4	SKOR2_HUMAN	SKI family transcriptional corepressor 2	137					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|SMAD binding|transcription corepressor activity|transcription repressor activity			endometrium(1)	1						TGGCAGCTTGGGCGGCCTGTT	0.662000													5	1					0	0	0.021553	0	0
ZNF574	64763	broad.mit.edu	37	19	42583408	42583408	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:42583408C>G	ENST00000600245.1	+	2	1305	c.650C>G	c.(649-651)tCt>tGt	p.S217C	ZNF574_ENST00000359044.4_Missense_Mutation_p.S217C|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.S307C			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TACAAGTGCTCTGAGTGCTCC	0.617000													5	128					0	0	0.021553	0	0
CDC14A	8556	broad.mit.edu	37	1	100856301	100856301	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:100856301C>G	ENST00000370125.2	+	4	718	c.230C>G	c.(229-231)tCa>tGa	p.S77*	CDC14A_ENST00000544534.1_Nonsense_Mutation_p.S77*|CDC14A_ENST00000542213.1_Nonsense_Mutation_p.S19*|CDC14A_ENST00000370124.3_Nonsense_Mutation_p.S77*|CDC14A_ENST00000336454.3_Nonsense_Mutation_p.S77*|CDC14A_ENST00000361544.6_Nonsense_Mutation_p.S77*			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	77	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TACAGTTTGTCAAGAAAGAAA	0.358000													7	24					0	0	0.038147	0	0
UNC13C	440279	broad.mit.edu	37	15	54306842	54306842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:54306842C>T	ENST00000545554.1	+	1	1742	c.1742C>T	c.(1741-1743)tCt>tTt	p.S581F	UNC13C_ENST00000260323.11_Missense_Mutation_p.S581F|UNC13C_ENST00000537900.1_Missense_Mutation_p.S581F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	581					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCCTGTCATCTTCGGACCGG	0.443000													9	16					0	0	0.058154	0	0
TCL1B	9623	broad.mit.edu	37	14	96152840	96152840	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:96152840C>T	ENST00000340722.7	+	1	87	c.36C>T	c.(34-36)ccC>ccT	p.P12P	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	12										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TAGGGGTGCCCCCTGGCCGTC	0.612000													42	43					0	0	0.139131	0	0
OR8A1	390275	broad.mit.edu	37	11	124440363	124440363	+	Silent	SNP	A	A	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:124440363A>C	ENST00000284287.3	+	1	471	c.399A>C	c.(397-399)acA>acC	p.T133T		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	133			T -> R (in dbSNP:rs55861866).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ACATGCTGACAGTGATGGCCT	0.478000													11	42					0	0	0.069234	0	0
COL4A2	1284	broad.mit.edu	37	13	111137329	111137329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr13:111137329G>A	ENST00000360467.5	+	33	3286	c.2980G>A	c.(2980-2982)Gga>Aga	p.G994R		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	994	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGAGAGAAAGGAGATGAAGG	0.612000													13	16					0	0	0.093190	0	0
KCTD8	386617	broad.mit.edu	37	4	44176989	44176989	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:44176989G>T	ENST00000360029.3	-	2	1523	c.1240C>A	c.(1240-1242)Cag>Aag	p.Q414K		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	414						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATGAGGGTCTGAAAGAGTTCA	0.428000										HNSCC(17;0.042)			24	245					9.65021e-13	1.01134e-12	0.045705	1	0
MMP24	10893	broad.mit.edu	37	20	33862257	33862257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:33862257G>A	ENST00000246186.6	+	9	1868	c.1783G>A	c.(1783-1785)Gat>Aat	p.D595N	MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	595					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACCATCAACGATGTGCCGGG	0.617000													77	109					0	0	0.139131	0	0
ABI3	51225	broad.mit.edu	37	17	47296976	47296976	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:47296976C>T	ENST00000225941.1	+	4	1035	c.537C>T	c.(535-537)tcC>tcT	p.S179S	ABI3_ENST00000419580.2_Silent_p.S173S	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	179					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CACCCGCCTCCGCCACCTTGG	0.687000										HNSCC(55;0.14)			7	7					0	0	0.069234	0	0
GLUL	2752	broad.mit.edu	37	1	182356327	182356327	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:182356327G>T	ENST00000311223.5	-	4	1163	c.267C>A	c.(265-267)ttC>ttA	p.F89L	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.F89L|GLUL_ENST00000339526.4_Missense_Mutation_p.F89L|GLUL_ENST00000331872.6_Missense_Mutation_p.F89L	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	89					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	GGTCCTTACGGAAGGGGTCCC	0.483000													38	53					7.53189e-24	7.9893e-24	0.098360	1	0
B4GALNT4	338707	broad.mit.edu	37	11	380422	380422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:380422G>A	ENST00000329962.6	+	18	2846	c.2846G>A	c.(2845-2847)gGg>gAg	p.G949E		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	949						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGAGCTGCGGGAGCTCGCCC	0.697000													17	5					0	0	0.033300	0	0
SLURP1	57152	broad.mit.edu	37	8	143822586	143822586	+	Missense_Mutation	SNP	C	C	T	rs139944345		TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:143822586C>T	ENST00000246515.1	-	3	312	c.287G>A	c.(286-288)cGa>cAa	p.R96Q		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	96					cell activation|cell adhesion	extracellular space	cytokine activity			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCAGAGGTCTCGGAAGCAGCA	0.662000													35	31					0	0	0.124865	0	0
GLI2	2736	broad.mit.edu	37	2	121747944	121747944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:121747944C>T	ENST00000452319.1	+	14	4514	c.4454C>T	c.(4453-4455)cCc>cTc	p.P1485L	GLI2_ENST00000361492.4_Missense_Mutation_p.P1485L|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1485					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCATCCAGCCCCAGCCCTTG	0.622000													26	60					0	0	0.099896	0	0
VENTX	27287	broad.mit.edu	37	10	135053689	135053689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr10:135053689C>T	ENST00000325980.9	+	3	1167	c.656C>T	c.(655-657)tCc>tTc	p.S219F		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	219					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GCGGGAGCTTCCTGCTGCGGG	0.716000													8	6					0	0	0.058154	0	0
ITGA5	3678	broad.mit.edu	37	12	54799084	54799084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:54799084C>T	ENST00000293379.4	-	12	1352	c.1091G>A	c.(1090-1092)aGg>aAg	p.R364K	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	364					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GACGTAGACCCTGCCCACCTC	0.642000													13	12					0	0	0.043863	0	0
ABCB6	10058	broad.mit.edu	37	2	220082977	220082977	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:220082977A>C	ENST00000265316.3	-	1	735	c.419T>G	c.(418-420)aTc>aGc	p.I140S	ABCB6_ENST00000439002.2_Missense_Mutation_p.I140S	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	140					cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGATCCAGATGCCCATTGC	0.632000													41	111					0	0	0.139131	0	0
FCRL3	115352	broad.mit.edu	37	1	157660220	157660220	+	Silent	SNP	C	C	T	rs138291587	byFrequency	TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:157660220C>T	ENST00000368184.3	-	9	1806	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P	FCRL3_ENST00000368186.5_Silent_p.P505P|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	505	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGTACAGGATCGGGAAGGAGC	0.607000													28	34					0	0	0.108266	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120417	12120417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:12120417C>T	ENST00000379388.2	+	4	721	c.389C>T	c.(388-390)tCc>tTc	p.S130F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	130					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAATCTGTCTCCCCAAAGAAG	0.428000													10	99					0	0	0.069234	0	0
RYR1	6261	broad.mit.edu	37	19	38942423	38942423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:38942423G>A	ENST00000355481.4	+	12	1273	c.1142G>A	c.(1141-1143)gGc>gAc	p.G381D	RYR1_ENST00000359596.3_Missense_Mutation_p.G381D|RYR1_ENST00000360985.3_Missense_Mutation_p.G381D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	381	MIR 5.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CACCAGGAGGGCCACATGGAC	0.627000													39	46					0	0	0.111260	0	0
CYP20A1	57404	broad.mit.edu	37	2	204131388	204131388	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:204131388A>G	ENST00000356079.4	+	5	707	c.584A>G	c.(583-585)cAg>cGg	p.Q195R	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.Q195R	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	195						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						ATTCGCTTCCAGAAGAATCAT	0.468000													46	61					0	0	0.139131	0	0
HDC	3067	broad.mit.edu	37	15	50544884	50544884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:50544884C>T	ENST00000267845.3	-	8	1277	c.875G>A	c.(874-876)gGg>gAg	p.G292E	HDC_ENST00000543581.1_Missense_Mutation_p.G292E	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	292					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)	ATACTCAATCCCCTTCAGAAA	0.562000													5	7					0	0	0.021553	0	0
NSUN5	55695	broad.mit.edu	37	7	72721484	72721484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:72721484C>T	ENST00000428206.1	-	4	306	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	NSUN5_ENST00000310326.8_Missense_Mutation_p.R136Q|NSUN5_ENST00000438747.2_Missense_Mutation_p.R136Q|NSUN5_ENST00000252594.6_Missense_Mutation_p.R136Q	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	136							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				ACGCACAAATCGAGGCAGCTG	0.547000													19	84					0	0	0.049695	0	0
GLI2	2736	broad.mit.edu	37	2	121742146	121742146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:121742146G>A	ENST00000452319.1	+	12	1843	c.1783G>A	c.(1783-1785)Gtc>Atc	p.V595I	GLI2_ENST00000361492.4_Missense_Mutation_p.V595I|GLI2_ENST00000314490.11_Missense_Mutation_p.V267I|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	595					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V595I(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGATGCCCACGTCACCAAGAA	0.607000													15	56					0	0	0.146539	0	0
GPR142	350383	broad.mit.edu	37	17	72368513	72368513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:72368513G>A	ENST00000335666.4	+	4	1211	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	388						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCTGTCCACCGGGACTGGAGG	0.607000													28	65					0	0	0.131918	0	0
TMEM63B	55362	broad.mit.edu	37	6	44114650	44114650	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:44114650C>T	ENST00000259746.9	+	11	1032	c.849C>T	c.(847-849)ttC>ttT	p.F283F	TMEM63B_ENST00000323267.6_Silent_p.F283F			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	283						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GCCTAATGTTCCTCGATGCAG	0.577000													15	81					0	0	0.049695	0	0
BPIFB3	359710	broad.mit.edu	37	20	31657760	31657760	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:31657760C>T	ENST00000375494.3	+	11	1216	c.1217_splice	c.e11+1	p.R406_splice		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	406					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GTCCCTGGAACGGTAACTTGG	0.562000													95	147					0	0	0.139131	0	0
VPS13D	55187	broad.mit.edu	37	1	12460273	12460273	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:12460273C>T	ENST00000358136.3	+	61	11800	c.11670C>T	c.(11668-11670)ttC>ttT	p.F3890F	VPS13D_ENST00000356315.4_Silent_p.F3865F|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3889					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGCAGCCCTTCATGCTCTATG	0.493000													35	36					0	0	0.139131	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2355696	2355696	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:2355696C>T	ENST00000515312.1	-	0	496				ZFYVE28_ENST00000503000.1_Silent_p.R48R|ZFYVE28_ENST00000290974.2_Silent_p.R48R|ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000511071.1_Silent_p.R48R|ZFYVE28_ENST00000515169.1_De_novo_Start_OutOfFrame	NM_001172659.1	NP_001166130.1	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28						negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCAGCGTGCACCGCTGGGGGT	0.677000													7	10					0	0	0.047766	0	0
TCL1B	9623	broad.mit.edu	37	14	96152839	96152839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:96152839C>T	ENST00000340722.7	+	1	86	c.35C>T	c.(34-36)cCc>cTc	p.P12L	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	12										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CTAGGGGTGCCCCCTGGCCGT	0.612000													42	42					0	0	0.139131	0	0
TP53BP2	7159	broad.mit.edu	37	1	223987607	223987607	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:223987607A>C	ENST00000391878.2	-	12	1860	c.1092T>G	c.(1090-1092)gaT>gaG	p.D364E	TP53BP2_ENST00000343537.7_Missense_Mutation_p.D493E|TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	487					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTACCTGAGCATCCCGCAAGA	0.413000													22	29					0	0	0.099896	0	0
EML1	2009	broad.mit.edu	37	14	100317273	100317273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:100317273G>A	ENST00000262233.6	+	2	290	c.151G>A	c.(151-153)Gac>Aac	p.D51N	EML1_ENST00000327921.9_Missense_Mutation_p.D20N|EML1_ENST00000334192.4_Missense_Mutation_p.D51N|EML1_ENST00000556758.1_3'UTR	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	51						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCAAGAAGACGACATCCAGCT	0.512000													19	35					0	0	0.055883	0	0
RERGL	79785	broad.mit.edu	37	12	18234224	18234224	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:18234224C>T	ENST00000229002.2	-	6	725	c.519G>A	c.(517-519)ctG>ctA	p.L173L	RERGL_ENST00000538724.1_Silent_p.L172L	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	173	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TGAAGTTTATCAGGATGTCCT	0.398000													10	31					0	0	0.058154	0	0
NPM1	4869	broad.mit.edu	37	5	170827906	170827906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:170827906C>T	ENST00000296930.5	+	8	947	c.646C>T	c.(646-648)Cca>Tca	p.P216S	NPM1_ENST00000393820.2_Missense_Mutation_p.P216S|NPM1_ENST00000351986.6_Intron|NPM1_ENST00000517671.1_Missense_Mutation_p.P216S	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	216				P -> S (in Ref. 21; AAA36473).	anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGACTCAAAACCATCATCAAC	0.378000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								20	42					0	0	0.116897	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370440	38370440	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:38370440C>T	ENST00000322350.5	+	6	934	c.588C>T	c.(586-588)atC>atT	p.I196I	EGFLAM_ENST00000354891.3_Silent_p.I196I	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	196	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATGAGCGGATCCAGATGGACT	0.502000													17	33					0	0	0.049695	0	0
KLHL20	27252	broad.mit.edu	37	1	173702872	173702872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:173702872G>A	ENST00000209884.4	+	3	180	c.44G>A	c.(43-45)gGa>gAa	p.G15E	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	15					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ATTCGACCAGGAGAGACTGGA	0.478000													27	56					0	0	0.054565	0	0
DNAH8	1769	broad.mit.edu	37	6	38899616	38899616	+	Silent	SNP	C	C	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:38899616C>A	ENST00000359357.3	+	74	10907	c.10653C>A	c.(10651-10653)atC>atA	p.I3551I	RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Silent_p.I3768I|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Silent_p.I3515I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATGTGATATCATGGATACAT	0.338000													79	100					3.98749e-38	4.26418e-38	0.139131	1	0
ZMYND8	23613	broad.mit.edu	37	20	45867868	45867868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:45867868G>A	ENST00000311275.7	-	15	2492	c.2239C>T	c.(2239-2241)Cca>Tca	p.P747S	ZMYND8_ENST00000396281.4_Missense_Mutation_p.P747S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P747S|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P684S|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P767S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P767S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P695S|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P774S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P742S|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P742S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P767S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P747S			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	747							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GTGGATGGTGGAGTTTTACCT	0.562000													64	69					0	0	0.139131	0	0
TJP2	9414	broad.mit.edu	37	9	71869274	71869274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr9:71869274G>A	ENST00000377245.4	+	23	3765	c.3557G>A	c.(3556-3558)cGg>cAg	p.R1186Q	TJP2_ENST00000453658.2_Missense_Mutation_p.R1016Q|TJP2_ENST00000539225.1_Missense_Mutation_p.R1217Q|TJP2_ENST00000348208.4_Missense_Mutation_p.R1039Q|TJP2_ENST00000535702.1_Missense_Mutation_p.R1153Q	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1186					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GCCCGATACCGGGACACAGAA	0.587000													16	42					0	0	0.132662	0	0
MYH10	4628	broad.mit.edu	37	17	8415804	8415804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:8415804G>A	ENST00000360416.3	-	24	3055	c.2917C>T	c.(2917-2919)Caa>Taa	p.Q973*	MYH10_ENST00000379980.4_Nonsense_Mutation_p.Q958*|MYH10_ENST00000269243.4_Nonsense_Mutation_p.Q942*|MYH10_ENST00000396239.1_Nonsense_Mutation_p.Q963*	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	942					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTTCATTTTGGAGGATTTGG	0.333000													6	17					0	0	0.029380	0	0
DHTKD1	55526	broad.mit.edu	37	10	12149948	12149948	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr10:12149948C>T	ENST00000263035.4	+	12	2150	c.2088C>T	c.(2086-2088)ctC>ctT	p.L696L		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	696					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TCGTCATCCTCCTTCCACATG	0.547000													37	22					0	0	0.124865	0	0
MSRA	4482	broad.mit.edu	37	8	10159055	10159055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:10159055C>T	ENST00000528246.1	+	5	768	c.145C>T	c.(145-147)Cat>Tat	p.H49Y	MSRA_ENST00000382490.5_Missense_Mutation_p.H72Y|MSRA_ENST00000518255.1_Missense_Mutation_p.H115Y|MSRA_ENST00000317173.4_Missense_Mutation_p.H115Y|MSRA_ENST00000441698.2_Missense_Mutation_p.H75Y	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	115					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	AAAAACTGGCCATGCAGAAGT	0.413000													24	15					0	0	0.099896	0	0
VSIG10	54621	broad.mit.edu	37	12	118517408	118517408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:118517408G>A	ENST00000359236.5	-	4	944	c.668C>T	c.(667-669)cCc>cTc	p.P223L		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	223	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TGATGGAGGGGGATCTGCAAA	0.562000													40	50					0	0	0.139131	0	0
MYH6	4624	broad.mit.edu	37	14	23867965	23867965	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:23867965G>A	ENST00000405093.3	-	15	1933	c.1863C>T	c.(1861-1863)ctC>ctT	p.L621L	MYH6_ENST00000356287.3_Silent_p.L621L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	621	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGGAGGAGAAGAGAGTGGCCA	0.557000													13	74					0	0	0.119110	0	0
SIM1	6492	broad.mit.edu	37	6	100841664	100841664	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:100841664G>A	ENST00000369208.3	-	11	2051	c.1269C>T	c.(1267-1269)gcC>gcT	p.A423A	SIM1_ENST00000262901.4_Silent_p.A423A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	423	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CAGGCCTATCGGCGGGGTCCA	0.597000													20	11					0	0	0.062417	0	0
GRID1	2894	broad.mit.edu	37	10	87487651	87487651	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr10:87487651G>A	ENST00000327946.7	-	10	1579	c.1494C>T	c.(1492-1494)aaC>aaT	p.N498N	GRID1_ENST00000536331.1_Silent_p.N69N	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	498						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCCAGGAGGTGTTATGGAGCT	0.547000										Multiple Myeloma(13;0.14)			31	17					0	0	0.059317	0	0
OR6S1	341799	broad.mit.edu	37	14	21109263	21109263	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:21109263C>T	ENST00000320704.3	-	1	587	c.588G>A	c.(586-588)aaG>aaA	p.K196K		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CCTCCAGCTTCTTGGTGTTGG	0.562000													23	33					0	0	0.083992	0	0
COL2A1	1280	broad.mit.edu	37	12	48369116	48369116	+	Silent	SNP	G	G	A	rs139957398	byFrequency	TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:48369116G>A	ENST00000380518.3	-	51	4034	c.3870C>T	c.(3868-3870)caC>caT	p.H1290H	COL2A1_ENST00000337299.6_Silent_p.H1221H|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1290	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCCACTCAGGGTGGCAGAGTT	0.602000													7	28					0	0	0.038147	0	0
CILP	8483	broad.mit.edu	37	15	65497795	65497795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:65497795C>T	ENST00000261883.4	-	5	600	c.434G>A	c.(433-435)cGc>cAc	p.R145H		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	145					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTGTCTCGGCGCAGGGATCC	0.557000													8	44					0	0	0.058154	0	0
EPHB2	2048	broad.mit.edu	37	1	23232557	23232557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:23232557G>A	ENST00000400191.3	+	10	1861	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	EPHB2_ENST00000374627.1_Missense_Mutation_p.E610K|EPHB2_ENST00000374630.3_Missense_Mutation_p.E615K|EPHB2_ENST00000374632.3_Missense_Mutation_p.E616K	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	615					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.E615K(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTTTGCCAAGGAAATTGACAT	0.537000													37	40					0	0	0.104719	0	0
CSAG1	158511	broad.mit.edu	37	X	151909159	151909159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chrX:151909159G>A	ENST00000370287.3	+	5	516	c.188G>A	c.(187-189)aGg>aAg	p.R63K	CSAG1_ENST00000370291.2_3'UTR|CSAG1_ENST00000452779.2_Missense_Mutation_p.R63K	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	63								p.R63M(1)		central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CAACCCAAAAGGGAAAAGGGA	0.522000													35	12					0	0	0.086207	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379025	114379025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:114379025G>A	ENST00000312719.5	-	5	1625	c.437C>T	c.(436-438)tCc>tTc	p.S146F	HS3ST5_ENST00000411826.1_Missense_Mutation_p.S146F|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	146					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	p.S146F(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CTGAGGGTAGGAAAAAGGCAT	0.388000													45	22					0	0	0.124865	0	0
OBSCN	84033	broad.mit.edu	37	1	228482117	228482117	+	Splice_Site	SNP	G	G	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:228482117G>T	ENST00000570156.2	+	47	12756		c.e47+1		OBSCN_ENST00000359599.6_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000422127.1_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTGTCAGGGGTAAAGATCGT	0.577000													47	89					4.0181e-32	4.27944e-32	0.139131	1	0
GPR142	350383	broad.mit.edu	37	17	72368514	72368514	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:72368514G>A	ENST00000335666.4	+	4	1212	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	388						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CTGTCCACCGGGACTGGAGGG	0.612000													26	63					0	0	0.117977	0	0
MAB21L2	10586	broad.mit.edu	37	4	151505096	151505096	+	Silent	SNP	G	G	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:151505096G>T	ENST00000317605.4	+	1	2020	c.915G>T	c.(913-915)ctG>ctT	p.L305L	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	305					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCATCCTGCTGCAGCTCATCT	0.627000													13	77					4.3838e-07	4.48655e-07	0.105934	1	0
BICC1	80114	broad.mit.edu	37	10	60546785	60546785	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr10:60546785T>A	ENST00000373886.3	+	5	494	c.490T>A	c.(490-492)Tgc>Agc	p.C164S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	164	KH 1.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGAAACCGGATGCCATATCCA	0.393000													25	12					0	0	0.125774	0	0
ZNF616	90317	broad.mit.edu	37	19	52619644	52619644	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:52619644C>G	ENST00000600228.1	-	4	1034	c.773G>C	c.(772-774)aGa>aCa	p.R258T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CCTTTGGTGTCTTACAAAATA	0.383000													12	55					0	0	0.093190	0	0
CHTF18	63922	broad.mit.edu	37	16	846741	846741	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:846741C>T	ENST00000317063.6	+	21	3108	c.3108C>T	c.(3106-3108)ttC>ttT	p.F1036F	CHTF18_ENST00000455171.2_Silent_p.F855F|CHTF18_ENST00000262315.9_Silent_p.F827F			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	827					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TCTGCCGCTTCCCTGAGCTGC	0.687000													10	20					0	0	0.080935	0	0
GBP2	2634	broad.mit.edu	37	1	89582841	89582841	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:89582841G>A	ENST00000370466.3	-	6	970	c.702C>T	c.(700-702)ttC>ttT	p.F234F	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	234					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		AATCGAAGACGAAGCACTTCC	0.423000													12	36					0	0	0.093190	0	0
MUC16	94025	broad.mit.edu	37	19	9061470	9061470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:9061470G>A	ENST00000397910.4	-	3	26179	c.25976C>T	c.(25975-25977)tCc>tTc	p.S8659F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8661	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGAAGGGGATAGATGTTT	0.433000													24	39					0	0	0.116897	0	0
CAPN1	823	broad.mit.edu	37	11	64974144	64974144	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:64974144G>A	ENST00000527323.1	+	12	1804	c.1565_splice	c.e12+1	p.V522_splice	CAPN1_ENST00000524773.1_Splice_Site_p.V522_splice|CAPN1_ENST00000279247.6_Splice_Site_p.V522_splice|CAPN1_ENST00000533820.1_Splice_Site_p.V522_splice|CAPN1_ENST00000533129.1_Splice_Site_p.V522_splice			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	522	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TGCTGGGACTGTGTGAGTCAT	0.637000													5	26					0	0	0.021553	0	0
SHB	6461	broad.mit.edu	37	9	37955978	37955978	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr9:37955978G>A	ENST00000377707.3	-	4	1693	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	376	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CCCCTCCAGGGGCACGAAGCT	0.602000													3	0					0	0	0.115264	0	0
PIGM	93183	broad.mit.edu	37	1	160000335	160000335	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:160000335T>G	ENST00000368090.2	-	1	1448	c.1195A>C	c.(1195-1197)Atc>Ctc	p.I399L		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	399					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAACAATTGATAAGAAGAAAG	0.403000													13	68					0	0	0.146539	0	0
ENTPD3	956	broad.mit.edu	37	3	40442420	40442420	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:40442420C>T	ENST00000301825.3	+	4	322	c.204C>T	c.(202-204)acC>acT	p.T68T	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.T68T|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.T68T|ENTPD3-AS1_ENST00000425156.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	68						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CTTCAAGAACCACAGTCTACG	0.463000													106	27					0	0	0.139131	0	0
GLI1	2735	broad.mit.edu	37	12	57865815	57865815	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:57865815G>C	ENST00000228682.2	+	12	3383	c.3292G>C	c.(3292-3294)Gaa>Caa	p.E1098Q	GLI1_ENST00000543426.1_Missense_Mutation_p.E970Q|GLI1_ENST00000546141.1_Missense_Mutation_p.E1057Q	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1098					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCTACCTGGGGAAACAGAATT	0.522000													24	38					0	0	0.091800	0	0
CLASP2	23122	broad.mit.edu	37	3	33576729	33576729	+	Silent	SNP	A	A	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:33576729A>C	ENST00000399362.4	-	34	4157	c.3804T>G	c.(3802-3804)ccT>ccG	p.P1268P	CLASP2_ENST00000539981.1_Silent_p.P1038P|CLASP2_ENST00000461133.3_Silent_p.P1028P|CLASP2_ENST00000359576.5_Silent_p.P1260P|CLASP2_ENST00000480013.1_Silent_p.P1048P|CLASP2_ENST00000468888.2_Silent_p.P1269P|CLASP2_ENST00000307312.7_Silent_p.P750P	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1270										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACATACCGTCAGGAAACTGGT	0.393000													17	10					0	0	0.043863	0	0
HMMR	3161	broad.mit.edu	37	5	162910053	162910053	+	Silent	SNP	A	A	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:162910053A>G	ENST00000416990.2	+	14	1712	c.1215A>G	c.(1213-1215)tcA>tcG	p.S405S	HMMR_ENST00000353866.3_Silent_p.S504S|HMMR_ENST00000393915.4_Silent_p.S520S|HMMR_ENST00000358715.3_Silent_p.S519S|HMMR_ENST00000432118.2_Silent_p.S433S			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	519						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AGACCAAGTCAGCACTAAAGG	0.333000													29	43					0	0	0.064281	0	0
PXDNL	137902	broad.mit.edu	37	8	52321966	52321966	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:52321966G>C	ENST00000356297.4	-	17	2318	c.2218C>G	c.(2218-2220)Ccc>Gcc	p.P740A	PXDNL_ENST00000543296.1_Missense_Mutation_p.P740A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	740					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCCACGTGGGCTGCTGCAGG	0.701000													4	37					0	0	0.009096	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110503293	110503293	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:110503293C>A	ENST00000378402.5	+	61	10181	c.10077C>A	c.(10075-10077)gaC>gaA	p.D3359E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3359					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGGATTGGACATAGATGACA	0.378000										HNSCC(38;0.096)			19	111					1.10513e-12	1.15357e-12	0.069288	1	0
CEP135	9662	broad.mit.edu	37	4	56876019	56876019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:56876019G>A	ENST00000257287.4	+	19	2579	c.2455G>A	c.(2455-2457)Gaa>Aaa	p.E819K		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	819					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CGCTTTTAAGGAAAACAGAAG	0.403000													18	34					0	0	0.091800	0	0
AGPAT4	56895	broad.mit.edu	37	6	161560467	161560467	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:161560467G>A	ENST00000320285.4	-	8	1241	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	AGPAT4_ENST00000457520.2_Silent_p.L181L|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	343					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAAAGAAGACGAGGATGAAGC	0.597000													63	39					0	0	0.139131	0	0
MYH2	4620	broad.mit.edu	37	17	10426843	10426843	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:10426843C>T	ENST00000245503.5	-	37	5826	c.5442G>A	c.(5440-5442)ggG>ggA	p.G1814G	MYH2_ENST00000397183.2_Silent_p.G1814G|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1814					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTGCTTCTTCCCACCCTTCA	0.542000													45	71					0	0	0.139131	0	0
XPO1	7514	broad.mit.edu	37	2	61719317	61719317	+	Silent	SNP	G	G	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:61719317G>C	ENST00000401558.2	-	16	2467	c.1740C>G	c.(1738-1740)gtC>gtG	p.V580V	XPO1_ENST00000404992.2_Silent_p.V580V|XPO1_ENST00000406957.1_Silent_p.V580V	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	580	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CCATATCCTGGACTCCATCAT	0.368000			Mis		CLL								24	44					0	0	0.134883	0	0
DNAH7	56171	broad.mit.edu	37	2	196659167	196659167	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:196659167C>T	ENST00000312428.6	-	57	10711	c.10611G>A	c.(10609-10611)gtG>gtA	p.V3537V	DNAH7_ENST00000409063.1_Silent_p.V20V	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3537	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGTCATTTTCACTCCATTCT	0.453000													20	68					0	0	0.076483	0	0
ALPI	248	broad.mit.edu	37	2	233322363	233322363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:233322363G>A	ENST00000295463.3	+	6	814	c.737G>A	c.(736-738)aGg>aAg	p.R246K		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	246					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AATGGAATCAGGCTGGACGGG	0.617000													21	33					0	0	0.062417	0	0
DNHD1	144132	broad.mit.edu	37	11	6588882	6588882	+	Missense_Mutation	SNP	G	G	A	rs2288284		TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:6588882G>A	ENST00000254579.6	+	36	12707	c.12143G>A	c.(12142-12144)cGa>cAa	p.R4048Q	DNHD1_ENST00000527990.2_Missense_Mutation_p.R4048Q	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4048					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGCGTTCTGCGACCTGAGTGC	0.607000													35	10					0	0	0.054565	0	0
CHI3L1	1116	broad.mit.edu	37	1	203148906	203148906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:203148906C>T	ENST00000255409.3	-	9	1119	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	332					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TTGACGCTTTCCTGGTCGTCG	0.582000													47	71					0	0	0.139131	0	0
ILDR1	286676	broad.mit.edu	37	3	121712385	121712385	+	Missense_Mutation	SNP	C	C	T	rs150479416	by1000genomes	TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:121712385C>T	ENST00000273691.3	-	6	1184	c.1079G>A	c.(1078-1080)cGt>cAt	p.R360H	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.R404H|ILDR1_ENST00000462014.1_Missense_Mutation_p.R372H|ILDR1_ENST00000393631.1_Missense_Mutation_p.R315H	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	404						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CCTAGAGCTACGGTGCCTTCC	0.597000													36	10					0	0	0.124865	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188964	140188964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:140188964C>T	ENST00000530339.1	+	1	2192	c.2192C>T	c.(2191-2193)gCg>gTg	p.A731V	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A731V|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A731V|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGAGGGCGCGTGCGCTCCG	0.667000													11	47					0	0	0.093190	0	0
XIRP2	129446	broad.mit.edu	37	2	168103356	168103356	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:168103356G>A	ENST00000409195.1	+	9	5543	c.5454G>A	c.(5452-5454)aaG>aaA	p.K1818K	XIRP2_ENST00000409273.1_Silent_p.K1596K|XIRP2_ENST00000295237.9_Silent_p.K1818K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1643					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACACAGTTAAGGTTTTTATGA	0.408000													26	44					0	0	0.099896	0	0
KCNH7	90134	broad.mit.edu	37	2	163236481	163236481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:163236481C>T	ENST00000332142.5	-	14	3112	c.3013G>A	c.(3013-3015)Gaa>Aaa	p.E1005K		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1005					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTGGAGTCTTCAGGCTGGGGA	0.507000													32	80					0	0	0.054565	0	0
AXIN2	8313	broad.mit.edu	37	17	63533688	63533688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:63533688G>A	ENST00000307078.5	-	6	1779	c.1466C>T	c.(1465-1467)cCc>cTc	p.P489L	AXIN2_ENST00000375702.5_Missense_Mutation_p.P489L	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	489					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGCGGCCGCGGGAGGCAGCTT	0.692000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				8	11					0	0	0.047766	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550813	4550813	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:4550813G>A	ENST00000586582.1	-	11	1429	c.1119C>T	c.(1117-1119)ccC>ccT	p.P373P	SEMA6B_ENST00000301293.3_Silent_p.P373P|SEMA6B_ENST00000586965.1_Silent_p.P373P	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	373	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTCTCACCGGGGTCGAGGCA	0.632000													22	38					0	0	0.134883	0	0
BRINP3	339479	broad.mit.edu	37	1	190068164	190068164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:190068164G>A	ENST00000367462.3	-	8	1516	c.1285C>T	c.(1285-1287)Ccg>Tcg	p.P429S	FAM5C_ENST00000534846.1_Missense_Mutation_p.P327S|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		429						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGGTCATTCGGACACGTGCAC	0.592000													13	17					0	0	0.132662	0	0
KIF5A	3798	broad.mit.edu	37	12	57958276	57958276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:57958276C>T	ENST00000455537.2	+	5	704	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	KIF5A_ENST00000286452.5_Missense_Mutation_p.R55C	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	144	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.R144C(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGACAAAATTCGTGACCTTCT	0.418000													31	51					0	0	0.054565	0	0
C8orf34	116328	broad.mit.edu	37	8	69621313	69621313	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:69621313C>T	ENST00000337103.4	+	8	2585	c.994_splice	c.e8+1	p.F331_splice	C8orf34_ENST00000325233.3_Splice_Site_p.F100_splice|C8orf34_ENST00000539993.1_Splice_Site_p.F356_splice|C8orf34_ENST00000518698.1_Splice_Site_p.F442_splice			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	356					signal transduction		cAMP-dependent protein kinase regulator activity	p.F331F(1)|p.F356F(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGATTCATTCGGTAAGTTTT	0.343000													5	18					0	0	0.029380	0	0
ABCC6	368	broad.mit.edu	37	16	16256896	16256896	+	Missense_Mutation	SNP	C	C	T	rs147794514		TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:16256896C>T	ENST00000205557.7	-	24	3489	c.3460G>A	c.(3460-3462)Gta>Ata	p.V1154I		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1154	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTTTCATCTACGCGAGCATTG	0.572000													5	264					0	0	0.038147	0	0
KCNH4	23415	broad.mit.edu	37	17	40315654	40315654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:40315654C>T	ENST00000264661.3	-	13	2779	c.2447G>A	c.(2446-2448)gGa>gAa	p.G816E	KCNH4_ENST00000607371.1_Missense_Mutation_p.G816E	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	816					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCAAAGGTTCCCAGTGGGGG	0.652000													13	9					0	0	0.132662	0	0
MDM4	4194	broad.mit.edu	37	1	204513760	204513760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:204513760C>T	ENST00000367182.3	+	9	932	c.770C>T	c.(769-771)gCt>gTt	p.A257V	MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000454264.2_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000507825.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	257	Asp/Glu-rich (acidic).|Region II.				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AAAGTTGAAGCTGCTGATACT	0.378000			A		"""GBM, bladder, retinoblastoma"""								16	25					0	0	0.043863	0	0
SLC5A4	6527	broad.mit.edu	37	22	32650130	32650130	+	Splice_Site	SNP	G	G	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr22:32650130G>C	ENST00000266086.4	-	2	217	c.207_splice	c.e2+1	p.P69_splice	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	69					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCACTTACCGGCCACCAGGC	0.522000													24	51					0	0	0.134883	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48578068	48578068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:48578068G>A	ENST00000354276.3	-	12	1289	c.962C>T	c.(961-963)tCc>tTc	p.S321F	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.S331F|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.S321F|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.S321F	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	321	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CTTTTCCAGGGAGGTCCTGGT	0.532000													70	120					0	0	0.139131	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478215	14478215	+	RNA	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr18:14478215C>T	ENST00000581457.1	-	0	1693					NR_024076.1																						TCACAGGAATCACGCCCATTC	0.468000													20	3					0	0	0.099896	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938503	2938503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:2938503G>A	ENST00000378404.2	+	1	458	c.253G>A	c.(253-255)Gac>Aac	p.D85N		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	85						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		AGGGTGGGATGACGTGGAGAG	0.612000													21	57					0	0	0.062417	0	0
PGLYRP1	8993	broad.mit.edu	37	19	46522828	46522828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:46522828C>T	ENST00000008938.4	-	2	408	c.365G>A	c.(364-366)tGg>tAg	p.W122*	CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	122					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CATGGGGTTCCATAAGTGACC	0.597000													29	45					0	0	0.045705	0	0
THADA	63892	broad.mit.edu	37	2	43514128	43514128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:43514128G>A	ENST00000405006.4	-	35	5434	c.5083C>T	c.(5083-5085)Cct>Tct	p.P1695S	THADA_ENST00000415080.2_Missense_Mutation_p.P1376S|THADA_ENST00000405975.2_Missense_Mutation_p.P1695S|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1695							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GACTCTGTAGGAAGATGGTCT	0.488000													15	22					0	0	0.033300	0	0
COL21A1	81578	broad.mit.edu	37	6	55933851	55933851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:55933851C>T	ENST00000244728.5	-	22	2481	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	COL21A1_ENST00000370808.2_Missense_Mutation_p.G95E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G695E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G692E|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	695	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACCTTTTTTCCTTGAATCCC	0.403000													13	4					0	0	0.146539	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454474	114454474	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:114454474G>A	ENST00000369563.3	+	4	1706	c.1260G>A	c.(1258-1260)aaG>aaA	p.K420K	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	420					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTCTCAAAAGAGGGTGACTA	0.458000								Other identified genes with known or suspected DNA repair function					37	131					0	0	0.124865	0	0
THSD7B	80731	broad.mit.edu	37	2	138033548	138033548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:138033548G>A	ENST00000409968.1	+	12	2630	c.2452G>A	c.(2452-2454)Gga>Aga	p.G818R	THSD7B_ENST00000413152.2_Missense_Mutation_p.G787R|THSD7B_ENST00000272643.3_Missense_Mutation_p.G818R|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTCTGGCAGGGAATAACGGG	0.398000													12	15					0	0	0.146539	0	0
MAP10	54627	broad.mit.edu	37	1	232941651	232941651	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:232941651C>T	ENST00000418460.1	+	1	1009	c.882C>T	c.(880-882)tcC>tcT	p.S294S		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		CGGCCGCCTCCGGATGCTCCC	0.706000													4	8					0	0	0.009096	0	0
SIX4	51804	broad.mit.edu	37	14	61180600	61180600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:61180600G>A	ENST00000216513.4	-	3	1930	c.1871C>T	c.(1870-1872)cCc>cTc	p.P624L		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	624						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TAGTGTAGAGGGACTGAGAGA	0.478000													5	27					0	0	0.021553	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146376	70146376	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:70146376T>G	ENST00000335568.5	+	1	160	c.158T>G	c.(157-159)gTg>gGg	p.V53G	UGT2B28_ENST00000511240.1_Missense_Mutation_p.V53G	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	53					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GGTCATGAGGTGACTGTACTG	0.418000													49	155					0	0	0.139131	0	0
HRNR	388697	broad.mit.edu	37	1	152191067	152191067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:152191067C>T	ENST00000368801.2	-	3	3113	c.3038G>A	c.(3037-3039)cGa>cAa	p.R1013Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1013					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)			AGACCCATGTCGGCCACGGCT	0.607000													90	125					0	0	0.139131	0	0
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572000													3	63					0	0	0.014758	0	0
ADAM12	8038	broad.mit.edu	37	10	127738159	127738159	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr10:127738159C>T	ENST00000368679.4	-	15	2007	c.1698G>A	c.(1696-1698)tcG>tcA	p.S566S	ADAM12_ENST00000368676.4_Silent_p.S566S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	566	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AGGAACTCTTCGAGACTTTGC	0.483000													43	29					0	0	0.139131	0	0
NFASC	23114	broad.mit.edu	37	1	204942404	204942404	+	Splice_Site	SNP	C	C	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:204942404C>A	ENST00000367172.4	+	12	1464	c.1135_splice	c.e12-1	p.S379_splice	NFASC_ENST00000338586.6_Splice_Site_p.S379_splice|NFASC_ENST00000539706.1_Splice_Site_p.S390_splice|NFASC_ENST00000339876.6_Splice_Site_p.S379_splice|NFASC_ENST00000403080.1_Splice_Site_p.S379_splice|NFASC_ENST00000338515.6_Splice_Site_p.S379_splice|NFASC_ENST00000513543.1_Splice_Site_p.S390_splice|NFASC_ENST00000367169.4_Splice_Site_p.S379_splice|NFASC_ENST00000404907.1_Splice_Site_p.S390_splice|NFASC_ENST00000360049.4_Splice_Site_p.S390_splice|NFASC_ENST00000367170.4_Splice_Site_p.S379_splice|NFASC_ENST00000401399.1_Splice_Site_p.S379_splice|NFASC_ENST00000367171.4_Splice_Site_p.S379_splice|NFASC_ENST00000404076.1_Splice_Site_p.S373_splice			O94856	NFASC_HUMAN	neurofascin	379	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.S390*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTGTCTGTAGCGGCACCACCT	0.612000													4	86					0.0293803	0.0298358	0.029380	1	0
CCKAR	886	broad.mit.edu	37	4	26483482	26483482	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:26483482G>A	ENST00000295589.3	-	5	1259	c.1065C>T	c.(1063-1065)atC>atT	p.I355I		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	355					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ACAGGAGGAGGATGAAGGAAA	0.617000													28	62					0	0	0.134883	0	0
SH2B2	10603	broad.mit.edu	37	7	101950084	101950084	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:101950084G>A	ENST00000536178.1	+	3	984	c.939G>A	c.(937-939)aaG>aaA	p.K313K	SH2B2_ENST00000306803.8_Silent_p.K270K			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	270					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TGCCAGAGAAGGATAACACAT	0.587000													6	8					0	0	0.029380	0	0
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393000													5	111					0	0	0.014758	0	0
GPR65	8477	broad.mit.edu	37	14	88477728	88477728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:88477728G>A	ENST00000267549.3	+	2	1095	c.537G>A	c.(535-537)tgG>tgA	p.W179*	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	179					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TAGAGAAATGGCAAATCAACC	0.423000													36	48					0	0	0.124865	0	0
ADCY5	111	broad.mit.edu	37	3	123023025	123023025	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:123023025G>A	ENST00000462833.1	-	13	3660	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F	ADCY5_ENST00000491190.1_Silent_p.F449F|ADCY5_ENST00000309879.5_Silent_p.F466F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	816					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTGgggaggggaagagctagg	0.612000													30	12					0	0	0.050027	0	0
SPAG16	79582	broad.mit.edu	37	2	214794769	214794769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:214794769G>A	ENST00000331683.5	+	12	1395	c.1300G>A	c.(1300-1302)Gga>Aga	p.G434R	SPAG16_ENST00000374309.3_Missense_Mutation_p.G340R	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	434					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GACCTTTGAAGGACACAGCCG	0.438000													27	65					0	0	0.125774	0	0
RNF212	285498	broad.mit.edu	37	4	1107151	1107151	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:1107151G>A	ENST00000382968.5	-	1	199	c.102C>T	c.(100-102)ctC>ctT	p.L34L	RNF212_ENST00000333673.5_Silent_p.L34L|RNF212_ENST00000433731.2_Silent_p.L34L|RNF212_ENST00000505730.1_5'UTR	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	ring finger protein 212	34							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		GACCTTTGCCGAGGCAGGCGT	0.667000													8	15					0	0	0.038147	0	0
NXPH2	11249	broad.mit.edu	37	2	139428696	139428696	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:139428696C>T	ENST00000272641.3	-	2	697	c.591G>A	c.(589-591)gcG>gcA	p.A197A		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	197	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CGGTCTTTTTCGCCCGATCTG	0.488000													4	12					0	0	0.009096	0	0
BAI1	575	broad.mit.edu	37	8	143570401	143570401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:143570401G>A	ENST00000517894.1	+	15	3352	c.2458G>A	c.(2458-2460)Gat>Aat	p.D820N	BAI1_ENST00000323289.5_Missense_Mutation_p.D820N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	820					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.D820N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCAGAGGCCGATGAAGCATC	0.662000													10	21					0	0	0.080935	0	0
H3F3B	3021	broad.mit.edu	37	17	73774768	73774768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:73774768C>T	ENST00000254810.4	-	4	451	c.319G>A	c.(319-321)Gat>Aat	p.D107N	H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000586607.1_Missense_Mutation_p.D107N|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000589599.1_Missense_Mutation_p.D107N|H3F3B_ENST00000587560.1_Missense_Mutation_p.D107N|H3F3B_ENST00000592643.1_Silent_p.K82K	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	107					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTTGGTATCTTCGAACAGA	0.582000													5	119					0	0	0.014758	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890574	32890574	+	RNA	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:32890574G>A	ENST00000330048.5	-	0	3224					NR_003083.2																						AGGACAGCACGAAGGCCCAGC	0.607000													8	14					0	0	0.047766	0	0
AFF3	3899	broad.mit.edu	37	2	100623722	100623722	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:100623722G>A	ENST00000317233.4	-	5	610	c.375C>T	c.(373-375)atC>atT	p.I125I	AFF3_ENST00000409236.1_Silent_p.I125I|AFF3_ENST00000356421.2_Silent_p.I150I|AFF3_ENST00000409579.1_Silent_p.I150I	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	125					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TAGTGCTACAGATAGACGAGG	0.552000													25	51					0	0	0.099896	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24890227	24890227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr13:24890227G>A	ENST00000382071.2	+	2	171	c.86G>A	c.(85-87)gGa>gAa	p.G29E	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G29E|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	29	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGGCACCCTGGAATCCCTGGG	0.557000													30	48					0	0	0.117977	0	0
NLRP8	126205	broad.mit.edu	37	19	56466570	56466570	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:56466570C>T	ENST00000291971.3	+	3	1217	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	NLRP8_ENST00000590542.1_Silent_p.F382F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	382	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTTGAGTTTCGCCATGGAAA	0.473000													28	59					0	0	0.134883	0	0
SPP1	6696	broad.mit.edu	37	4	88902885	88902885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:88902885C>T	ENST00000237623.7	+	5	581	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Nonsense_Mutation_p.R159*|SPP1_ENST00000360804.4_Nonsense_Mutation_p.R132*	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	159					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ATATGATGGCCGAGGTGATAG	0.458000													37	52					0	0	0.111260	0	0
CATSPERG	57828	broad.mit.edu	37	19	38857942	38857942	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:38857942C>T	ENST00000409235.3	+	23	2875	c.2760C>T	c.(2758-2760)ctC>ctT	p.L920L	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.L880L	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	920					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCTGCTTTCTCTTCCGGGACA	0.572000													14	26					0	0	0.132662	0	0
TEP1	7011	broad.mit.edu	37	14	20848535	20848535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:20848535G>A	ENST00000262715.5	-	34	4902	c.4862C>T	c.(4861-4863)cCc>cTc	p.P1621L	TEP1_ENST00000556935.1_Missense_Mutation_p.P1513L|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1621					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGGAGCCGGGGGTACTGGCT	0.607000													19	68					0	0	0.049695	0	0
MRC2	9902	broad.mit.edu	37	17	60768025	60768025	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:60768025C>G	ENST00000303375.5	+	27	4317	c.3915C>G	c.(3913-3915)atC>atG	p.I1305M	MRC2_ENST00000446119.2_Missense_Mutation_p.I171M	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1305	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TCCTGTCTATCCTGGATGAGA	0.637000													3	95					0	0	0.009096	0	0
OR52D1	390066	broad.mit.edu	37	11	5510001	5510001	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:5510001G>A	ENST00000322641.5	+	1	87	c.65G>A	c.(64-66)gGg>gAg	p.G22E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGATCCCAGGGCTGGAGGCT	0.493000													61	24					0	0	0.139131	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611246	42611246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:42611246C>T	ENST00000276410.2	-	5	1451	c.1096G>A	c.(1096-1098)Ggc>Agc	p.G366S	CHRNA6_ENST00000534622.1_Missense_Mutation_p.G351S	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	366						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCATCAGAGCCTGTGCCCCTT	0.567000													27	21					0	0	0.108266	0	0
GPR50	9248	broad.mit.edu	37	X	150349430	150349430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chrX:150349430C>T	ENST00000218316.3	+	2	1444	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	459	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGACTCTGTCCATTTCAAGCC	0.547000													242	72					0	0	0.139131	0	0
DYSF	8291	broad.mit.edu	37	2	71791234	71791234	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:71791234A>G	ENST00000258104.3	+	24	2679	c.2402A>G	c.(2401-2403)gAc>gGc	p.D801G	DYSF_ENST00000409582.3_Missense_Mutation_p.D818G|DYSF_ENST00000394120.2_Missense_Mutation_p.D802G|DYSF_ENST00000409744.1_Missense_Mutation_p.D788G|DYSF_ENST00000429174.2_Missense_Mutation_p.D801G|DYSF_ENST00000410020.3_Missense_Mutation_p.D819G|DYSF_ENST00000409651.1_Missense_Mutation_p.D833G|DYSF_ENST00000413539.2_Missense_Mutation_p.D832G|DYSF_ENST00000410041.1_Missense_Mutation_p.D819G|DYSF_ENST00000409762.1_Missense_Mutation_p.D818G|DYSF_ENST00000409366.1_Missense_Mutation_p.D802G	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	801						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTGCAGGGAGACAAGCGTGTG	0.627000													32	56					0	0	0.086207	0	0
WNT10A	80326	broad.mit.edu	37	2	219747084	219747084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:219747084G>A	ENST00000258411.3	+	2	948	c.315G>A	c.(313-315)tgG>tgA	p.W105*		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	105					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCAGCGCTGGAACTGCTCAA	0.597000													21	51					0	0	0.055883	0	0
WSCD1	23302	broad.mit.edu	37	17	5984093	5984093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:5984093C>T	ENST00000574946.1	+	2	505	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	WSCD1_ENST00000317744.5_Missense_Mutation_p.R39C|WSCD1_ENST00000574232.1_Missense_Mutation_p.R39C|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Missense_Mutation_p.R39C			Q658N2	WSCD1_HUMAN	WSC domain containing 1	39						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCAGCGGGTCCGCGTGGCTCT	0.687000													8	4					0	0	0.058154	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179870514	179870514	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:179870514G>C	ENST00000435319.3	+	5	921	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.E245Q	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	244						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GGATTCTGATGAATCTGGAGG	0.333000													8	27					0	0	0.058154	0	0
WDR66	144406	broad.mit.edu	37	12	122437829	122437829	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:122437829C>T	ENST00000288912.4	+	20	4068	c.3214C>T	c.(3214-3216)Ctg>Ttg	p.L1072L		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1072							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AGAGGACTTCCTGAGACTGCT	0.502000													14	25					0	0	0.038395	0	0
WFDC8	90199	broad.mit.edu	37	20	44207862	44207862	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:44207862C>T	ENST00000357199.4	-	1	103	c.26_splice	c.e1+1	p.G9_splice	WFDC8_ENST00000289953.2_Splice_Site_p.G9_splice	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	9						extracellular region	serine-type endopeptidase inhibitor activity	p.G9W(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CCTCCTCACCCTCCTTCAGTT	0.577000													71	130					0	0	0.139131	0	0
TTC14	151613	broad.mit.edu	37	3	180326584	180326584	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:180326584A>T	ENST00000296015.4	+	11	1518	c.1386A>T	c.(1384-1386)ttA>ttT	p.L462F	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Missense_Mutation_p.L462F	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	462							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTAAGCTCTTAAAAGAAGAGA	0.303000													3	0					0	0	0.021553	0	0
ST14	6768	broad.mit.edu	37	11	130059763	130059763	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:130059763C>T	ENST00000278742.5	+	5	988	c.570C>T	c.(568-570)tcC>tcT	p.S190S		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	190					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCCTGAAGTCCTTTGTGGTCA	0.682000													42	32					0	0	0.139131	0	0
ZNF44	51710	broad.mit.edu	37	19	12384185	12384185	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:12384185G>A	ENST00000356109.5	-	5	1147	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	ZNF44_ENST00000355684.5_Silent_p.S295S	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GTACTCGAAGGGAACCGGAAA	0.408000													25	50					0	0	0.076483	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329273	23329273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:23329273G>A	ENST00000597761.2	+	4	1626	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ATTCATTCTGGGGAAAAAATC	0.363000													12	21					0	0	0.105934	0	0
ZNF583	147949	broad.mit.edu	37	19	56935571	56935571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:56935571C>T	ENST00000333201.9	+	5	1754	c.1544C>T	c.(1543-1545)aCt>aTt	p.T515I	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.T515I	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AGAATTCATACTGGAGAAAGA	0.383000													33	72					0	0	0.074837	0	0
NUP62CL	54830	broad.mit.edu	37	X	106396494	106396494	+	Silent	SNP	T	T	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chrX:106396494T>C	ENST00000372466.4	-	7	689	c.438A>G	c.(436-438)gaA>gaG	p.E146E	NUP62CL_ENST00000372461.3_3'UTR	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	146					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						GAAATTCTAGTTCCTGCTGCT	0.378000													56	14					0	0	0.139131	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361141	105361141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:105361141C>T	ENST00000297581.2	+	2	410	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.L121F	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	121					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTTTAAAGGTCTCCTAGATGG	0.418000													13	41					0	0	0.119110	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214214	3214214	+	Silent	SNP	C	C	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:3214214C>A	ENST00000380059.3	-	7	905	c.804G>T	c.(802-804)ggG>ggT	p.G268G	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.G241G|SLC4A11_ENST00000539553.1_Silent_p.G225G	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	241					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGGAATTCTCCCCCCAGTTCT	0.637000													32	52					1.45844e-13	1.53458e-13	0.054565	1	0
GGA2	23062	broad.mit.edu	37	16	23497447	23497447	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:23497447G>A	ENST00000309859.4	-	8	769	c.687C>T	c.(685-687)tcC>tcT	p.S229S	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	229	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TGACCCTCTTGGACACCTTCT	0.577000													36	60					0	0	0.092188	0	0
OR2L3	391192	broad.mit.edu	37	1	248224856	248224856	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:248224856G>A	ENST00000359959.3	+	1	873	c.873G>A	c.(871-873)ctG>ctA	p.L291L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTATAGCCTGAGGAACAAGG	0.498000													27	38					0	0	0.045705	0	0
ZNF133	7692	broad.mit.edu	37	20	18295947	18295947	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:18295947C>A	ENST00000377671.3	+	7	1008	c.449C>A	c.(448-450)gCc>gAc	p.A150D	ZNF133_ENST00000538547.1_Missense_Mutation_p.A56D|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000316358.4_Missense_Mutation_p.A151D|ZNF133_ENST00000402618.2_Missense_Mutation_p.A88D|ZNF133_ENST00000535822.1_Missense_Mutation_p.A56D|ZNF133_ENST00000396026.3_Missense_Mutation_p.A154D|ZNF133_ENST00000401790.1_Missense_Mutation_p.A151D	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	151						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GGAGAAGGTGCCATGCCTTTG	0.612000													4	155					4.096e-09	4.22501e-09	0.021553	1	0
MYH4	4622	broad.mit.edu	37	17	10362568	10362568	+	Splice_Site	SNP	C	C	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:10362568C>A	ENST00000255381.2	-	15	1697	c.1587_splice	c.e15+1	p.K529_splice	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	529	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCATATGAACCTTCTCGATGA	0.473000													28	96					4.02929e-09	4.17262e-09	0.045705	1	0
TNXB	7148	broad.mit.edu	37	6	32037368	32037368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:32037368C>T	ENST00000375244.3	-	15	5750	c.5549G>A	c.(5548-5550)gGc>gAc	p.G1850D	TNXB_ENST00000375247.2_Missense_Mutation_p.G1850D			P22105	TENX_HUMAN	tenascin XB	1932					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACACGCTTGCCGTGGTGCAG	0.682000													67	12					0	0	0.139131	0	0
OR1K1	392392	broad.mit.edu	37	9	125562678	125562678	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr9:125562678A>C	ENST00000277309.2	+	1	309	c.277A>C	c.(277-279)Atc>Ctc	p.I93L		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGACCACTCCATCTCGCTGGC	0.572000													39	69					0	0	0.139131	0	0
MYO1B	4430	broad.mit.edu	37	2	192252018	192252018	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:192252018C>T	ENST00000392318.3	+	17	1870	c.1623C>T	c.(1621-1623)gcC>gcT	p.A541A	MYO1B_ENST00000304164.4_Silent_p.A541A|MYO1B_ENST00000392316.1_Silent_p.A541A|MYO1B_ENST00000339514.4_Silent_p.A541A	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	541	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGTCCCAAGCCATGTGGAAGG	0.507000													26	57					0	0	0.116897	0	0
DEPDC7	91614	broad.mit.edu	37	11	33053931	33053931	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:33053931G>A	ENST00000311388.3	+	6	1393	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	DEPDC7_ENST00000241051.3_Silent_p.K348K	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	348					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TCCTTCTAAAGCTTTTAGATT	0.333000													47	11					0	0	0.139131	0	0
MCPH1	79648	broad.mit.edu	37	8	6302915	6302915	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:6302915C>T	ENST00000344683.5	+	8	1748	c.1672C>T	c.(1672-1674)Ctg>Ttg	p.L558L	MCPH1_ENST00000519480.1_Silent_p.L558L|MCPH1_ENST00000522905.1_Silent_p.L510L	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	558						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AGCGGTTGGTCTGAAAAGCAC	0.418000													16	10					0	0	0.038395	0	0
SPTA1	6708	broad.mit.edu	37	1	158597469	158597469	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:158597469G>A	ENST00000368148.3	-	40	5790	c.5610C>T	c.(5608-5610)gtC>gtT	p.V1870V	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Silent_p.V1870V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1870					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)					GGGTCTCATGGACAGCAAAGT	0.398000													40	68					0	0	0.139131	0	0
PGP	283871	broad.mit.edu	37	16	2264143	2264143	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:2264143G>A	ENST00000333503.7	-	1	665	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	212					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						ACGGACCCGCGATGAAGCGGC	0.726000													10	11					0	0	0.058154	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				42	41					0	0	0.124865	0	0
MMP27	64066	broad.mit.edu	37	11	102562686	102562686	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:102562686C>T	ENST00000260229.4	-	10	1444	c.1353G>A	c.(1351-1353)aaG>aaA	p.K451K		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	451	Hemopexin-like 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.K451N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GGGTAATATTCTTTGTCTTAA	0.338000													16	11					0	0	0.033300	0	0
NFATC3	4775	broad.mit.edu	37	16	68156976	68156976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:68156976C>T	ENST00000349223.5	+	2	1414	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	NFATC3_ENST00000575270.1_Missense_Mutation_p.S397L|NFATC3_ENST00000346183.3_Missense_Mutation_p.S397L|NFATC3_ENST00000329524.4_Missense_Mutation_p.S397L|NFATC3_ENST00000535127.2_3'UTR	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	397					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCAGTTCCTTCACCCTTTACC	0.443000													36	64					0	0	0.086207	0	0
MED12L	116931	broad.mit.edu	37	3	151105887	151105887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:151105887G>A	ENST00000474524.1	+	35	5311	c.5273G>A	c.(5272-5274)gGa>gAa	p.G1758E	MED12L_ENST00000273432.4_Missense_Mutation_p.G1618E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1758					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAGATCAGGGAAAAACCACA	0.493000													15	5					0	0	0.146539	0	0
KRIT1	889	broad.mit.edu	37	7	91865832	91865832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:91865832G>A	ENST00000394507.1	-	8	1163	c.380C>T	c.(379-381)cCa>cTa	p.P127L	KRIT1_ENST00000340022.2_Missense_Mutation_p.P127L|KRIT1_ENST00000412043.2_Missense_Mutation_p.P127L|KRIT1_ENST00000394505.2_Missense_Mutation_p.P127L|KRIT1_ENST00000394503.2_Missense_Mutation_p.P127L	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	127					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)			TGGGCATCCTGGGGTATATGT	0.323000													23	37					0	0	0.099896	0	0
TNR	7143	broad.mit.edu	37	1	175332892	175332892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:175332892G>A	ENST00000367674.1	-	13	3367	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S	TNR_ENST00000263525.2_Missense_Mutation_p.P887S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	887	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GATGCAACAGGAGGGCTCCAG	0.428000													32	56					0	0	0.059317	0	0
XIST	7503	broad.mit.edu	37	X	73070880	73070880	+	RNA	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chrX:73070880G>A	ENST00000429829.1	-	0	1708					NR_001564.2																						CCAGGTCTTCGCTGAGTAGCT	0.502000													48	13					0	0	0.139131	0	0
OR4C15	81309	broad.mit.edu	37	11	55322738	55322738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:55322738C>T	ENST00000314644.2	+	1	956	c.956C>T	c.(955-957)tCc>tTc	p.S319F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCTGCTTTTTCCCTTGACAAA	0.403000										HNSCC(20;0.049)			82	40					0	0	0.139131	0	0
FAM83H	286077	broad.mit.edu	37	8	144809676	144809676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:144809676G>A	ENST00000388913.3	-	5	2080	c.1955C>T	c.(1954-1956)cCa>cTa	p.P652L		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	652					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCGCGCTCTGGGCCGTTGCC	0.751000													10	5					0	0	0.069234	0	0
WNT9A	7483	broad.mit.edu	37	1	228109590	228109590	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:228109590G>C	ENST00000272164.5	-	4	737	c.727C>G	c.(727-729)Ctg>Gtg	p.L243V	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	243					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TTGTGCTTCAGATGCTTGCCC	0.652000													24	99					0	0	0.125774	0	0
ABI3	51225	broad.mit.edu	37	17	47294030	47294030	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:47294030G>A	ENST00000225941.1	+	2	753	c.255G>A	c.(253-255)caG>caA	p.Q85Q	ABI3_ENST00000419580.2_Silent_p.Q85Q	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	85					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCCTGCGGCAGGTGGAAGCCC	0.652000										HNSCC(55;0.14)			7	13					0	0	0.058154	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699187	17699187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:17699187C>T	ENST00000399080.2	-	1	519	c.496G>A	c.(496-498)Gat>Aat	p.D166N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	166										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCATGTATATCGTGTATAGAG	0.423000													26	37					0	0	0.045705	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426916	111426916	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:111426916C>T	ENST00000393934.3	+	2	877	c.307C>T	c.(307-309)Cga>Tga	p.R103*	PLCXD2_ENST00000477665.1_Nonsense_Mutation_p.R103*	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	103	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCTGACATTTCGAGAACAGCT	0.522000													36	17					0	0	0.098360	0	0
PDS5B	23047	broad.mit.edu	37	13	33327526	33327526	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr13:33327526C>T	ENST00000315596.10	+	25	2979	c.2793C>T	c.(2791-2793)tcC>tcT	p.S931S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	931					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAGGCCTTTCCCGTTTACGGC	0.408000													44	70					0	0	0.139131	0	0
KLHL1	57626	broad.mit.edu	37	13	70413256	70413256	+	Silent	SNP	A	A	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr13:70413256A>G	ENST00000377844.4	-	6	2025	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	KLHL1_ENST00000545028.1_Silent_p.N229N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	422					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATTCCAGATCATTCTTAAATA	0.323000													62	110					0	0	0.139131	0	0
PCDH15	65217	broad.mit.edu	37	10	55996643	55996643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr10:55996643G>A	ENST00000373965.2	-	9	1319	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	PCDH15_ENST00000320301.6_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.Q287*|PCDH15_ENST00000395440.1_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.Q287*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.Q314*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.Q272*|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000395442.1_Nonsense_Mutation_p.Q309*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	309	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCCGGTCCTGATCAATGGCT	0.388000										HNSCC(58;0.16)			63	30					0	0	0.139131	0	0
PCDHA7	56141	broad.mit.edu	37	5	140216017	140216017	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:140216017G>A	ENST00000525929.1	+	1	2049	c.2049G>A	c.(2047-2049)tcG>tcA	p.S683S	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.S683S|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGGCATCGTTGGGCATTG	0.632000													55	104					0	0	0.139131	0	0
CMYA5	202333	broad.mit.edu	37	5	79025950	79025950	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:79025950C>T	ENST00000446378.2	+	2	1393	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	454						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGGACCCAGACCAAGAACAGC	0.512000													42	64					0	0	0.139131	0	0
ALB	213	broad.mit.edu	37	4	74274517	74274517	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:74274517G>A	ENST00000295897.4	+	4	566	c.477G>A	c.(475-477)ttG>ttA	p.L159L	ALB_ENST00000401494.3_Intron|ALB_ENST00000415165.2_Intron|ALB_ENST00000503124.1_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Silent_p.L159L	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	159	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGACATTTTTGAAAAAGTAAG	0.353000													7	19					0	0	0.058154	0	0
MARCO	8685	broad.mit.edu	37	2	119731990	119731990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:119731990G>A	ENST00000541757.1	+	6	688	c.308G>A	c.(307-309)gGg>gAg	p.G103E	MARCO_ENST00000327097.4_Missense_Mutation_p.G181E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	181					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGCCAAGGGGGCTATGGGA	0.572000													5	10					0	0	0.038147	0	0
ATXN2L	11273	broad.mit.edu	37	16	28846473	28846473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:28846473C>T	ENST00000336783.4	+	19	2695	c.2528C>T	c.(2527-2529)cCt>cTt	p.P843L	ATXN2L_ENST00000395547.2_Missense_Mutation_p.P843L|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P843L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P843L|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P843L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P843L|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P849L|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000565845.1_3'UTR	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	843						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTCAGTACCCTTCTGCAGAG	0.642000													81	139					0	0	0.139131	0	0
TRIM23	373	broad.mit.edu	37	5	64907555	64907555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:64907555C>T	ENST00000231524.9	-	4	891	c.520G>A	c.(520-522)Gag>Aag	p.E174K	TRIM23_ENST00000274327.7_Missense_Mutation_p.E174K|TRIM23_ENST00000381018.3_Missense_Mutation_p.E174K	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	174					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATAGTTTTCTCATGAGGTTTA	0.443000													47	74					0	0	0.139131	0	0
C3	718	broad.mit.edu	37	19	6711045	6711045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:6711045G>A	ENST00000245907.6	-	12	1524	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	478					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGGTCCATTCGCAGGAGGAAG	0.602000													70	158					0	0	0.139131	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709454	38709454	+	RNA	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:38709454C>T	ENST00000417039.1	-	0	696																											CCATTGAAATCCTGAGTGATG	0.542000													22	25					0	0	0.116897	0	0
CBL	867	broad.mit.edu	37	11	119155688	119155688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:119155688C>T	ENST00000264033.4	+	10	1817	c.1441C>T	c.(1441-1443)Ccg>Tcg	p.P481S		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	481	Pro-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGTGGAACGGCCGCCTTCTCC	0.507000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	20					0	0	0.139131	0	0
DSCAM	1826	broad.mit.edu	37	21	41648177	41648177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr21:41648177G>A	ENST00000400454.1	-	11	2680	c.2203C>T	c.(2203-2205)Cag>Tag	p.Q735*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	735	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCAATTGGCTGGAACTGGGGA	0.493000													11	27					0	0	0.093190	0	0
PARP6	56965	broad.mit.edu	37	15	72557446	72557446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:72557446G>A	ENST00000569795.1	-	7	991	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F	PARP6_ENST00000260376.7_Missense_Mutation_p.L102F|PARP6_ENST00000287196.9_Missense_Mutation_p.L102F|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	102							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TACTGGGAGAGAGAAAATCGC	0.478000													29	14					0	0	0.086207	0	0
SALL4	57167	broad.mit.edu	37	20	50401095	50401095	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:50401095G>A	ENST00000217086.4	-	4	2982	c.2871C>T	c.(2869-2871)atC>atT	p.I957I	SALL4_ENST00000371539.3_Silent_p.I180I|SALL4_ENST00000395997.3_Silent_p.I520I	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	957					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGGGGCCAGGATTTCCTTGG	0.522000													45	66					0	0	0.139131	0	0
GLYATL1	92292	broad.mit.edu	37	11	58715349	58715349	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:58715349C>G	ENST00000300079.5	+	4	240	c.190C>G	c.(190-192)Cac>Gac	p.H64D	GLYATL1_ENST00000317391.4_Missense_Mutation_p.H33D|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	33						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CTCTGTGTATCACATCAATCA	0.498000													3	67					0	0	0.009096	0	0
SEMG2	6407	broad.mit.edu	37	20	43851398	43851398	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:43851398G>A	ENST00000372769.3	+	2	1215	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	375	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GCAGTATTTCGATCCAAACTG	0.373000													45	67					0	0	0.139131	0	0
FLG2	388698	broad.mit.edu	37	1	152328282	152328282	+	Silent	SNP	T	T	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:152328282T>C	ENST00000388718.5	-	3	2052	c.1980A>G	c.(1978-1980)tcA>tcG	p.S660S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	660	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTGAGCCTGATCCATATT	0.488000													6	363					0	0	0.038147	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625713	140625713	+	Silent	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:140625713G>A	ENST00000231173.3	+	1	567	c.567G>A	c.(565-567)agG>agA	p.R189R		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		189	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGATGGCAGGAAATACCCAG	0.537000													23	27					0	0	0.083992	0	0
TENM2	57451	broad.mit.edu	37	5	167642213	167642213	+	Silent	SNP	C	C	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:167642213C>G	ENST00000519204.1	+	20	3769	c.3651C>G	c.(3649-3651)ccC>ccG	p.P1217P	TENM2_ENST00000518659.1_Silent_p.P1338P|TENM2_ENST00000403607.2_Silent_p.P1162P|TENM2_ENST00000520394.1_Silent_p.P1099P|TENM2_ENST00000545108.1_Silent_p.P1337P					teneurin transmembrane protein 2																		AGTGTCTACCCTTTGATGAAG	0.567000													43	113					0	0	0.117977	0	0
KLHDC10	23008	broad.mit.edu	37	7	129765758	129765758	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:129765758C>T	ENST00000335420.5	+	7	1052	c.918C>T	c.(916-918)ccC>ccT	p.P306P		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	306										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CAACAAAACCCCATGAAAAAA	0.274000													12	17					0	0	0.080935	0	0
HTR2C	3358	broad.mit.edu	37	X	114141216	114141216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chrX:114141216G>A	ENST00000371950.3	+	6	1244	c.520G>A	c.(520-522)Gac>Aac	p.D174N	HTR2C_ENST00000276198.1_Silent_p.T205T|HTR2C_ENST00000371951.1_Silent_p.T205T	NM_001256761.1	NP_001243690.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	0					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGAACAACACGACGTGCGTGC	0.453000													82	19					0	0	0.139131	0	0
OR6K6	128371	broad.mit.edu	37	1	158725180	158725180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:158725180C>T	ENST00000368144.2	+	1	671	c.575C>T	c.(574-576)tCc>tTc	p.S192F		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GCATGGATTTCCACCTTGCCT	0.478000													24	34					0	0	0.091800	0	0
CSMD1	64478	broad.mit.edu	37	8	3216851	3216851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:3216851C>T	ENST00000520002.1	-	22	3685	c.3130G>A	c.(3130-3132)Gag>Aag	p.E1044K	CSMD1_ENST00000539096.1_Missense_Mutation_p.E1043K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E1044K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E1043K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E1043K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E1044K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E1044K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1044	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCACATGGCTCCAGGTCATAT	0.428000													20	7					0	0	0.069288	0	0
PGK2	5232	broad.mit.edu	37	6	49754324	49754324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:49754324C>T	ENST00000304801.3	-	1	729	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	193					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TAATCTAGTTCCTTCTTCATC	0.458000													85	20					0	0	0.139131	0	0
ZFYVE21	79038	broad.mit.edu	37	14	104195265	104195265	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:104195265T>C	ENST00000216602.6	+	4	491	c.379T>C	c.(379-381)Ttt>Ctt	p.F127L	ZFYVE21_ENST00000311141.2_Missense_Mutation_p.F127L	NM_001198953.1	NP_001185882.1	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	127						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		CCTCGTCACGTTTGGAAACTC	0.512000													14	36					0	0	0.119110	0	0
RB1CC1	9821	broad.mit.edu	37	8	53580634	53580634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:53580634G>A	ENST00000025008.5	-	8	1643	c.1120C>T	c.(1120-1122)Cag>Tag	p.Q374*	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.Q374*|RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.Q374*	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	374					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCAATCATCTGGTCCAGGGCG	0.403000													29	21					0	0	0.045705	0	0
VANGL2	57216	broad.mit.edu	37	1	160385937	160385937	+	Silent	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:160385937C>T	ENST00000368061.2	+	3	631	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	53					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGGGGAGCCCCTGCTGGACAA	0.667000													4	86					0	0	0.029380	0	0
TSGA13	114960	broad.mit.edu	37	7	130353978	130353978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:130353978C>T	ENST00000456951.1	-	9	1555	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	TSGA13_ENST00000356588.3_Missense_Mutation_p.R235Q			Q96PP4	TSG13_HUMAN	testis specific, 13	235										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CAGTGGTTCCCGAATCACTTT	0.567000													58	51					0	0	0.139131	0	0
RP5-884C9.2	0	broad.mit.edu	37	1	38562824	38562825	+	RNA	DEL	AG	AG	-			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:38562824_38562825delAG	ENST00000432922.1	+	0	301																											ccacagaaacagagagagagag	0.500													2	4	---	---	---	---					
LOC339529	339529	broad.mit.edu	37	1	244142895	244142896	+	RNA	INS	-	-	GT			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:244142895_244142896insGT	ENST00000440494.1	+	0	235					NR_033883.1																						ATCGGCCAGGAGTGTGGGGGGG	0.693													3	5	---	---	---	---					
MUC3A	4584	broad.mit.edu	37	7	100609643	100609645	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:100609643_100609645delTGC	ENST00000319509.7	+	8	2375_2377	c.2375_2377delTGC	c.(2374-2379)gtg>g	p.VL792del	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCGCTGCTGGTGCTGCTGCTGCT	0.788													3	4	---	---	---	---					
GPSM1	26086	broad.mit.edu	37	9	139235482	139235482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr9:139235482delC	ENST00000392945.3	+	9	1459	c.1239delC	c.(1237-1239)ctfs	p.L413fs	GPSM1_ENST00000440944.1_Intron	NM_015597.4	NP_056412.4	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	0	Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGTCTTGCTCCCCACAGGCA	0.687													7	6	---	---	---	---					
CRTC3-AS1	101926895	broad.mit.edu	37	15	91190495	91190497	+	RNA	DEL	CCT	CCT	-			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:91190495_91190497delCCT	ENST00000559531.1	-	0	294																											cctccacacccctcctcctcaat	0.611													3	3	---	---	---	---					
LOC102723841	102723841	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358													3	6	---	---	---	---					
WDR16	146845	broad.mit.edu	37	17	9541993	9541994	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:9541993_9541994insA	ENST00000352665.5	+	12	1609_1610	c.1540_1541insA	c.(1540-1542)gttfs	p.V514fs	WDR16_ENST00000299764.5_Frame_Shift_Ins_p.V524fs|WDR16_ENST00000396219.3_Frame_Shift_Ins_p.V446fs|WDR16_ENST00000576714.1_3'UTR	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	514						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCACCCTGAGGAGTTCCAGATC	0.490													17	90	---	---	---	---