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
ATP2B3	492	broad.mit.edu	37	X	152826253	152826253	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:152826253G>A	ENST00000370186.1	+	17	3243	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	ATP2B3_ENST00000370181.2_Missense_Mutation_p.A973T|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A987T|ATP2B3_ENST00000359149.3_Missense_Mutation_p.A987T|ATP2B3_ENST00000349466.2_Missense_Mutation_p.A987T|ATP2B3_ENST00000393842.1_Missense_Mutation_p.A973T|ATP2B3_ENST00000460549.1_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	987					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGATCAACGCCCGCAAGAT	0.562000													4	39					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212685	62212685	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:62212685A>G	ENST00000519846.1	+	3	771	c.299A>G	c.(298-300)tAc>tGc	p.Y100C	CLVS1_ENST00000325897.4_Missense_Mutation_p.Y100C|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	100					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TATTTCCAGTACCGCCAGCTA	0.502000													4	46					0	0	1	0	0
MTF2	22823	broad.mit.edu	37	1	93602423	93602423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:93602423C>T	ENST00000370298.4	+	15	1910	c.1621C>T	c.(1621-1623)Cag>Tag	p.Q541*	MTF2_ENST00000540243.1_Nonsense_Mutation_p.Q439*|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Nonsense_Mutation_p.Q439*|MTF2_ENST00000370303.4_Nonsense_Mutation_p.Q484*	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	541						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CTTAGCAGATCAGGAGTTACA	0.388000													18	41					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17430022	17430022	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:17430022G>T	ENST00000302539.4	-	23	2865	c.2740C>A	c.(2740-2742)Ctc>Atc	p.L914I	ABCC8_ENST00000389817.3_Missense_Mutation_p.L913I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	913	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AAGTCCTTGAGGGTACCCTCC	0.552000													11	61					5.50884e-06	6.27381e-06	1	1	0
EEF1G	1937	broad.mit.edu	37	11	62340201	62340201	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:62340201T>A	ENST00000378019.3	-	2	266	c.176A>T	c.(175-177)tAt>tTt	p.Y59F	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000532986.1_5'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.Y9F			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	9	GST N-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTTTCAGGATACGTGTACAG	0.522000													6	26					0	0	1	0	0
ARHGDIG	398	broad.mit.edu	37	16	332515	332515	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:332515C>A	ENST00000219409.3	+	5	538	c.463C>A	c.(463-465)Cgc>Agc	p.R155S		NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	155					negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCACACCTACCGCCGGGGCCT	0.687000													3	13					0.115264	0.116847	1	1	0
XDH	7498	broad.mit.edu	37	2	31600099	31600099	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:31600099T>C	ENST00000379416.3	-	14	1295	c.1247A>G	c.(1246-1248)gAg>gGg	p.E416G		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	416					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGAGAAATACTCCCCCTAAAA	0.517000													14	23					0	0	1	0	0
PNO1	56902	broad.mit.edu	37	2	68389725	68389725	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:68389725G>A	ENST00000263657.2	+	5	641	c.550G>A	c.(550-552)Gct>Act	p.A184T		NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	184	KH.					nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						AGGAAGAATCGCTGGCAAAGG	0.418000													11	61					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7081289	7081289	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:7081289A>T	ENST00000299481.4	+	9	3144	c.2798A>T	c.(2797-2799)gAc>gTc	p.D933V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	933					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AATCTTCAGGACTTGGAGTAG	0.443000													25	121					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471601	47471601	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:47471601T>C	ENST00000266581.4	-	2	1651	c.1185A>G	c.(1183-1185)gcA>gcG	p.A395A	AMIGO2_ENST00000321382.3_Silent_p.A395A|AMIGO2_ENST00000429635.1_Silent_p.A395A|AMIGO2_ENST00000550413.1_Silent_p.A395A	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	395					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CTGTGTTAAATGCCTCATGAG	0.433000													10	50					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155465914	155465914	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:155465914T>C	ENST00000461783.3	+	8	3076		c.e8+2		TIAM2_ENST00000360366.4_Splice_Site|TIAM2_ENST00000456144.1_Splice_Site|TIAM2_ENST00000318981.5_Splice_Site|TIAM2_ENST00000529824.2_Splice_Site|TIAM2_ENST00000367174.2_Splice_Site			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTTTTCCAGGTACTGCTGGTA	0.393000													11	59					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207488	58207488	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:58207488A>C	ENST00000302572.2	-	1	158	c.137T>G	c.(136-138)tTg>tGg	p.L46W		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAGTAGAATCAATTCAATCAT	0.493000													21	53					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29709802	29709802	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:29709802C>T	ENST00000256062.5	-	10	1813	c.1340G>A	c.(1339-1341)gGg>gAg	p.G447E	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.G509E|TMTC1_ENST00000552618.1_Missense_Mutation_p.G579E|TMTC1_ENST00000539277.1_Missense_Mutation_p.G555E|TMTC1_ENST00000551659.1_Missense_Mutation_p.G617E	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	555						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GAGGAGATTCCCCAGATTGAA	0.483000													13	67					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268372	21268372	+	Silent	SNP	C	C	A	rs150884106	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:21268372C>A	ENST00000602326.1	-	12	1708	c.1125G>T	c.(1123-1125)acG>acT	p.T375T	EIF4G3_ENST00000400422.1_Silent_p.T369T|EIF4G3_ENST00000374927.4_Silent_p.T369T|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Silent_p.T375T|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000356916.3_Silent_p.T380T|EIF4G3_ENST00000264211.8_Silent_p.T369T	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	369					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.T375T(1)|p.T369T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAATGCTCTCCGTGGCTGATA	0.383000													32	107					1.30897e-18	1.72533e-18	1	1	0
TPPP	11076	broad.mit.edu	37	5	666182	666182	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:666182A>T	ENST00000360578.5	-	3	489	c.368T>A	c.(367-369)cTc>cAc	p.L123H	CEP72_ENST00000514507.1_3'UTR	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	123					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CTTCTTGGCGAGCTCCTCCAG	0.642000													8	57					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244715642	244715642	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:244715642A>G	ENST00000366534.4	+	9	609	c.555A>G	c.(553-555)gtA>gtG	p.V185V	C1orf101_ENST00000366531.3_Silent_p.V34V|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Silent_p.V185V	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	185						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GTATTGTAGTACCAATGACAA	0.338000													16	67					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756480	71756480	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:71756480C>A	ENST00000318442.5	-	2	1334	c.844G>T	c.(844-846)Gcg>Tcg	p.A282S		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGCGTGCACGCGTGCGGCTTG	0.637000													15	74					2.61681e-11	3.28074e-11	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18331738	18331738	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:18331738A>T	ENST00000377369.2	+	13	2325	c.2052A>T	c.(2050-2052)atA>atT	p.I684I	SLC39A12_ENST00000539911.1_Silent_p.I550I|SLC39A12_ENST00000377374.4_Silent_p.I647I|SLC39A12_ENST00000377371.3_Silent_p.I683I	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	684					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTTGGCTATATATGAGCAAA	0.343000													10	45					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156914894	156914894	+	Missense_Mutation	SNP	G	G	A	rs140673049		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:156914894G>A	ENST00000368194.3	-	30	3947	c.2908C>T	c.(2908-2910)Cgc>Tgc	p.R970C	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R346C|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R930C|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	930	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAACGGTGGCGGTTCTCTGTT	0.597000													23	129					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169792755	169792755	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:169792755C>A	ENST00000263817.6	-	22	2923	c.2799G>T	c.(2797-2799)ctG>ctT	p.L933L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	933	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CCACCATCTCCAGGGCCTGCT	0.478000													12	23					2.27111e-07	2.67683e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9085517	9085517	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9085517C>A	ENST00000397910.4	-	1	6501	c.6298G>T	c.(6298-6300)Gct>Tct	p.A2100S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2100	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						TGCTTAGCAGCAGATGTGGAT	0.473000													30	146					2.42023e-17	3.17941e-17	1	1	0
ADPGK	83440	broad.mit.edu	37	15	73048687	73048687	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:73048687T>C	ENST00000311669.8	-	5	838	c.745A>G	c.(745-747)Agc>Ggc	p.S249G	ADPGK_ENST00000567733.1_Intron	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	249	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						TCCTCCAGGCTAGACACAAAC	0.537000													13	33					0	0	1	0	0
CSRP1	1465	broad.mit.edu	37	1	201454441	201454441	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:201454441C>T	ENST00000367306.1	-	6	838	c.475G>A	c.(475-477)Gca>Aca	p.A159T	CSRP1_ENST00000340006.2_Missense_Mutation_p.A159T|CSRP1_ENST00000532460.1_Missense_Mutation_p.A159T|CSRP1_ENST00000533432.1_Missense_Mutation_p.A159T|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000526723.1_Missense_Mutation_p.A126T			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	159	LIM zinc-binding 2.					nucleus	zinc ion binding			large_intestine(3)|lung(2)|ovary(1)	6						TCCTTGTCTGCCAGGGTGGTT	0.527000													16	94					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154231458	154231458	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:154231458A>G	ENST00000428931.1	+	21	2615	c.2448A>G	c.(2446-2448)caA>caG	p.Q816Q	UBAP2L_ENST00000343815.6_Silent_p.Q816Q|UBAP2L_ENST00000361546.2_Silent_p.Q816Q|UBAP2L_ENST00000271877.7_Silent_p.Q827Q	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	816					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCAGCCACAAGTATATGGTT	0.373000													6	106					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65871755	65871755	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:65871755A>G	ENST00000321892.4	+	5	2009	c.1948A>G	c.(1948-1950)Agt>Ggt	p.S650G	BPTF_ENST00000424123.3_Missense_Mutation_p.S511G|BPTF_ENST00000335221.5_Missense_Mutation_p.S650G|BPTF_ENST00000306378.6_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	650	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAAGAGACTAGTCCCTCTGA	0.507000													14	41					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85446027	85446027	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:85446027G>T	ENST00000393217.2	+	7	812	c.751G>T	c.(751-753)Gag>Tag	p.E251*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	251	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAAACAGCATGAGGTATCTAT	0.274000													8	49					1.06961e-07	1.2734e-07	1	1	0
AIP	9049	broad.mit.edu	37	11	67258406	67258406	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:67258406G>A	ENST00000279146.3	+	6	1053	c.935G>A	c.(934-936)cGg>cAg	p.R312Q		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	312					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						CTGGAGGCACGGATCCGGCAG	0.642000									Familial Isolated Pituitary Adenoma				7	16					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77754433	77754433	+	Silent	SNP	C	C	A	rs61753811		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:77754433C>A	ENST00000407578.2	-	34	5228	c.4962G>T	c.(4960-4962)ggG>ggT	p.G1654G	MYCBP2_ENST00000544440.2_Silent_p.G1616G|MYCBP2_ENST00000357337.6_Silent_p.G1616G|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTTGTCATCCCTGAGATAT	0.408000													15	73					0.000308642	0.000331973	1	1	0
TDO2	6999	broad.mit.edu	37	4	156835562	156835562	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:156835562C>G	ENST00000536354.2	+	8	878	c.814C>G	c.(814-816)Cgt>Ggt	p.R272G		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	272					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	p.R272C(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TGATGAGAAACGTCATGAACA	0.348000													7	20					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72717935	72717935	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:72717935C>T	ENST00000428206.1	-	8	932	c.919G>A	c.(919-921)Gcg>Acg	p.A307T	NSUN5_ENST00000252594.6_Missense_Mutation_p.A345T|NSUN5_ENST00000310326.8_Missense_Mutation_p.A345T|NSUN5_ENST00000438747.2_Missense_Mutation_p.A345T	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	345							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				AAAGTGAGCGCGTGGCACAGG	0.657000													7	24					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149882414	149882414	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:149882414C>T	ENST00000369146.3	-	4	1409	c.919G>A	c.(919-921)Gca>Aca	p.A307T	SV2A_ENST00000369145.1_Missense_Mutation_p.A307T	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	307					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ATAGCAGCTGCGTACACGCCA	0.567000													5	52					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170101223	170101223	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:170101223C>T	ENST00000263816.3	-	22	3695	c.3410G>A	c.(3409-3411)gGa>gAa	p.G1137E	LRP2_ENST00000443831.1_Missense_Mutation_p.G1000E	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1137	LDL-receptor class A 10.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCATCAGATCCATCCCCACA	0.458000													17	76					0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23693479	23693479	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:23693479G>T	ENST00000300093.4	+	4	927		c.e4+1			NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TATTCCCAAGGTGACTAATGA	0.408000													14	40					0.000219431	0.000237969	1	1	0
SLC7A4	6545	broad.mit.edu	37	22	21385901	21385901	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:21385901A>T	ENST00000382932.2	-	2	268	c.201T>A	c.(199-201)gcT>gcA	p.A67A	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Silent_p.A67A	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	67					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGCAGGGCCAGCCACCTCCT	0.662000													9	32					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10179590	10179590	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:10179590T>C	ENST00000377157.3	+	8	1684	c.623T>C	c.(622-624)gTc>gCc	p.V208A	UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000343090.6_Missense_Mutation_p.V453A|UBE4B_ENST00000253251.8_Missense_Mutation_p.V324A	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	453					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CAGCCAGCAGTCAGCCAGCTT	0.463000													7	65					0	0	1	0	0
TRNAU1AP	54952	broad.mit.edu	37	1	28880162	28880162	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:28880162A>G	ENST00000373830.3	+	2	64	c.38A>G	c.(37-39)tAc>tGc	p.Y13C	TRNAU1AP_ENST00000495995.1_3'UTR	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	13	RRM 1.				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						CTGGAACCCTACATGGATGAG	0.587000													6	12					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88106788	88106788	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:88106788G>T	ENST00000273963.5	-	3	721	c.380C>A	c.(379-381)tCt>tAt	p.S127Y	KLHL8_ENST00000498875.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.S127Y	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	127	BTB.									breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GAGCCGTGAAGAATAGACAAA	0.423000													7	45					0.000157383	0.000170993	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72993377	72993377	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:72993377C>A	ENST00000268489.5	-	2	1340	c.668G>T	c.(667-669)gGg>gTg	p.G223V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	223					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)				GGGGCTGAGCCCCGCCAGGGC	0.562000													24	46					3.6726e-16	4.78208e-16	1	1	0
EP400	57634	broad.mit.edu	37	12	132466666	132466666	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:132466666G>A	ENST00000333577.4	+	6	1789	c.1680G>A	c.(1678-1680)gcG>gcA	p.A560A	EP400_ENST00000332482.4_Silent_p.A487A|EP400_ENST00000389562.2_Silent_p.A523A|EP400_ENST00000330386.6_Silent_p.A524A|EP400_ENST00000389561.2_Silent_p.A524A			Q96L91	EP400_HUMAN	E1A binding protein p400	560					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGCAGGCCGCGCAGCTCGCTG	0.607000													14	179					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151509207	151509207	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:151509207T>C	ENST00000535741.1	-	40	6796	c.6323A>G	c.(6322-6324)gAc>gGc	p.D2108G	LRBA_ENST00000507224.1_Missense_Mutation_p.D2108G|LRBA_ENST00000510413.1_Missense_Mutation_p.D2108G|LRBA_ENST00000357115.3_Missense_Mutation_p.D2119G			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2119						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CACCTTGGGGTCGATTTTTTT	0.448000													20	155					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75100444	75100444	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:75100444A>T	ENST00000290573.2	+	5	1137	c.537A>T	c.(535-537)ggA>ggT	p.G179G	HK2_ENST00000409174.1_Silent_p.G151G	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	179	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGTCCAGTGGAGTGGAAGGCA	0.532000													7	80					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46827143	46827143	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:46827143A>G	ENST00000283296.7	-	17	2785	c.2497T>C	c.(2497-2499)Tcc>Ccc	p.S833P	GPR116_ENST00000362015.4_Missense_Mutation_p.S833P|GPR116_ENST00000456426.2_Missense_Mutation_p.S691P|GPR116_ENST00000265417.7_Missense_Mutation_p.S833P|GPR116_ENST00000545669.1_Missense_Mutation_p.S262P	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	833					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AATGCTTGGGAAAATCTTTCC	0.463000													4	64					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8496256	8496256	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:8496256T>A	ENST00000447869.1	-	1	1115	c.197A>T	c.(196-198)aAc>aTc	p.N66I	STK33_ENST00000534493.1_Missense_Mutation_p.N25I|STK33_ENST00000396672.1_Missense_Mutation_p.N66I|STK33_ENST00000396673.1_Missense_Mutation_p.N66I|STK33_ENST00000358872.3_Intron|STK33_ENST00000315204.1_Missense_Mutation_p.N66I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	66						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TATATCTCTGTTGATATTTTT	0.388000													6	28					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123908953	123908953	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:123908953G>A	ENST00000330487.5	-	1	764	c.756C>T	c.(754-756)ggC>ggT	p.G252G		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAAGACCAGGGCCAAAGAAGC	0.567000													13	48					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88439263	88439263	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:88439263T>A	ENST00000429277.2	+	3	378	c.233T>A	c.(232-234)cTc>cAc	p.L78H	LDB3_ENST00000372056.4_Missense_Mutation_p.L78H|LDB3_ENST00000352360.5_Missense_Mutation_p.L78H|LDB3_ENST00000361373.4_Missense_Mutation_p.L78H|LDB3_ENST00000310944.6_Missense_Mutation_p.L78H|LDB3_ENST00000542786.1_Missense_Mutation_p.L78H|LDB3_ENST00000458213.2_Missense_Mutation_p.L78H|LDB3_ENST00000263066.6_Missense_Mutation_p.L78H|LDB3_ENST00000372066.3_Missense_Mutation_p.L78H	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	78	PDZ.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AACTTGAGCCTCACCCTGCAG	0.587000													17	31					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37053549	37053549	+	Silent	SNP	C	C	T	rs138735345		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:37053549C>T	ENST00000231790.2	+	8	852	c.636C>T	c.(634-636)acC>acT	p.T212T	MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000435176.1_Silent_p.T114T	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	212					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ATGCCTCAACCGTGGACAATA	0.383000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	60					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629134	47629134	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:47629134C>G	ENST00000546455.1	+	4	1019	c.288C>G	c.(286-288)cgC>cgG	p.R96R	PCED1B_ENST00000432328.1_Silent_p.R96R					PC-esterase domain containing 1B																		TCCTCACCCGCGTGTACTCCG	0.592000													11	109					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406690	38406690	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:38406690A>T	ENST00000351773.3	+	8	1441	c.611A>T	c.(610-612)gAa>gTa	p.E204V	ZNF37A_ENST00000361085.4_Missense_Mutation_p.E204V	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	204						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TATGGTAATGAATGTGGAGAA	0.383000													27	52					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129134220	129134220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:129134220C>A	ENST00000505956.1	-	4	868	c.706G>T	c.(706-708)Gag>Tag	p.E236*	EFCAB12_ENST00000326085.3_Nonsense_Mutation_p.E236*	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		TCCTCCACCTCTTGGTTCTTC	0.522000													12	17					3.07112e-06	3.50773e-06	1	1	0
YTHDC2	64848	broad.mit.edu	37	5	112915285	112915285	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:112915285G>T	ENST00000161863.4	+	24	3460	c.3247G>T	c.(3247-3249)Gat>Tat	p.D1083Y		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1083							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGGACAGTGGATGGCATTCC	0.378000													17	75					6.49762e-13	8.26016e-13	1	1	0
SPG7	6687	broad.mit.edu	37	16	89614444	89614444	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:89614444C>T	ENST00000268704.2	+	12	1601	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	529					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.A529E(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AATGAGGCTGCGCTGCACGCG	0.632000													20	73					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9324171	9324171	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:9324171C>T	ENST00000377403.2	+	5	1921	c.1619C>T	c.(1618-1620)cCc>cTc	p.P540L	H6PD_ENST00000602477.1_Missense_Mutation_p.P551L	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	540	Linker.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCCCCAATGCCCAGTGACTTC	0.622000													13	62					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103453264	103453264	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:103453264T>C	ENST00000358392.2	-	30	2780	c.2463A>G	c.(2461-2463)gaA>gaG	p.E821E	COL11A1_ENST00000512756.1_Silent_p.E693E|COL11A1_ENST00000370096.3_Silent_p.E809E|COL11A1_ENST00000353414.4_Silent_p.E770E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	809	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGGCCATCTTCCCCTCTTG	0.453000													6	55					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169551539	169551539	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:169551539A>G	ENST00000305747.6	+	6	1174	c.587A>G	c.(586-588)cAg>cGg	p.Q196R	CERS6_ENST00000392687.4_Missense_Mutation_p.Q196R	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	196	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										ATGTTTTCTCAGTTCACTGAT	0.398000													19	73					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70989879	70989879	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:70989879G>T	ENST00000334414.6	-	5	1252	c.1208C>A	c.(1207-1209)gCt>gAt	p.A403D	PTPRB_ENST00000538708.1_Missense_Mutation_p.A185D|PTPRB_ENST00000550358.1_Missense_Mutation_p.A403D|PTPRB_ENST00000550857.1_Missense_Mutation_p.A185D|PTPRB_ENST00000451516.2_Missense_Mutation_p.A185D|PTPRB_ENST00000551525.1_Missense_Mutation_p.A402D|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000261266.5_Missense_Mutation_p.A185D	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	185	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCAGAAACAGCTGTGATGGC	0.343000													11	24					0.00829132	0.00866553	1	1	0
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:57484421G>A	ENST00000371100.4	+	8	3083	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			14	72					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43378291	43378291	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:43378291A>T	ENST00000290650.4	-	2	307	c.229T>A	c.(229-231)Tac>Aac	p.Y77N	UBR1_ENST00000382177.2_Missense_Mutation_p.Y77N	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	77					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CCAAATAAGTACCATTCCAGT	0.413000													19	40					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561954	11561954	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:11561954A>C	ENST00000294484.6	+	2	1043	c.905A>C	c.(904-906)gAg>gCg	p.E302A	PTCHD2_ENST00000389575.3_Missense_Mutation_p.E302A	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	302					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CATGAGATCGAGCGCAAGATC	0.637000													7	24					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84108163	84108163	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:84108163C>T	ENST00000369705.3	-	3	401	c.285G>A	c.(283-285)gaG>gaA	p.E95E	ME1_ENST00000543031.1_Silent_p.E20E|ME1_ENST00000541327.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	95					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	GCATGAATTTCTCAATGTCAG	0.343000													4	29					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78771962	78771962	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:78771962G>T	ENST00000545128.1	+	11	1852	c.1312_splice	c.e11-1	p.V438_splice	PCSK5_ENST00000376752.4_Splice_Site_p.V438_splice|PCSK5_ENST00000376767.3_Splice_Site_p.V438_splice	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	438	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTTCCACAGTGAGCCATCTTT	0.522000													17	55					9.16793e-09	1.10936e-08	1	1	0
CACNB2	783	broad.mit.edu	37	10	18439885	18439885	+	Nonsense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:18439885C>G	ENST00000282343.8	+	2	332	c.110C>G	c.(109-111)tCa>tGa	p.S37*	CACNB2_ENST00000324631.7_Nonsense_Mutation_p.S65*|CACNB2_ENST00000352115.6_Nonsense_Mutation_p.S65*|CACNB2_ENST00000377331.2_Nonsense_Mutation_p.S37*|CACNB2_ENST00000467034.1_3'UTR|CACNB2_ENST00000377328.1_Nonsense_Mutation_p.S65*	NM_001167945.1|NM_201571.3	NP_001161417.1|NP_963865.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	65					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GATACTACCTCAAATAGTTTT	0.308000													10	83					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57599438	57599438	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:57599438G>A	ENST00000243077.3	+	75	12034	c.11568G>A	c.(11566-11568)acG>acA	p.T3856T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3856	EGF-like 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCATGAAGACGCACAACACCT	0.622000													7	46					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56171006	56171006	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:56171006A>T	ENST00000399503.3	+	10	1834	c.1834A>T	c.(1834-1836)Agc>Tgc	p.S612C		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	612					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGCAGTGGAAGCAGCCCGAG	0.587000													9	32					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47278265	47278265	+	Silent	SNP	C	C	T	rs141014956	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:47278265C>T	ENST00000271153.4	+	4	501	c.465C>T	c.(463-465)gcC>gcT	p.A155A	CYP4B1_ENST00000452782.2_5'UTR|CYP4B1_ENST00000371919.4_Silent_p.A140A|CYP4B1_ENST00000371923.4_Silent_p.A155A			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	155					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCTATGTGGCCGTGTTCACTG	0.572000													5	49					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193933	139193933	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:139193933C>A	ENST00000274710.3	+	4	1205	c.1000C>A	c.(1000-1002)Cgg>Agg	p.R334R		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	334	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.R334W(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGTGGCCCGGCAGCTGGG	0.632000													8	22					1.12685e-05	1.26986e-05	1	1	0
PLXNA1	5361	broad.mit.edu	37	3	126751317	126751317	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:126751317G>T	ENST00000251772.4	+	29	5319	c.5250G>T	c.(5248-5250)ttG>ttT	p.L1750F	PLXNA1_ENST00000393409.2_Missense_Mutation_p.L1773F|PLXNA1_ENST00000505278.1_3'UTR			Q9UIW2	PLXA1_HUMAN	plexin A1	1773					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACGCCTGCTTGTCGGTGGTGG	0.582000													5	61					1.23904e-05	1.38834e-05	1	1	0
RPL23AP53	644128	broad.mit.edu	37	8	163605	163605	+	RNA	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:163605G>A	ENST00000606975.1	-	0	316																											CTTCTTTTTTGCGTGTGGCTG	0.552000													14	56					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50390984	50390984	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:50390984T>A	ENST00000434422.1	-	11	1184	c.883A>T	c.(883-885)Att>Ttt	p.I295F	RACGAP1_ENST00000427314.2_Missense_Mutation_p.I295F|RACGAP1_ENST00000547905.1_Missense_Mutation_p.I295F|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000551016.1_Missense_Mutation_p.I295F|RACGAP1_ENST00000454520.2_Missense_Mutation_p.I295F|RACGAP1_ENST00000312377.5_Missense_Mutation_p.I295F			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	295					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TCAGGTTTAATAACCTGGGAT	0.358000													8	51					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113530213	113530213	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:113530213C>T	ENST00000487903.1	+	28	3373	c.3285C>T	c.(3283-3285)gtC>gtT	p.V1095V	ATP11A_ENST00000375645.3_Silent_p.V1095V|ATP11A_ENST00000375630.2_Silent_p.V1095V|ATP11A_ENST00000283558.8_Silent_p.V1095V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1095					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCAAGAAAGTCCTGTGCCGGC	0.642000													13	34					0	0	1	0	0
ZNF75A	7627	broad.mit.edu	37	16	3363159	3363159	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:3363159G>A	ENST00000574298.1	+	4	557	c.84G>A	c.(82-84)gaG>gaA	p.E28E	ZNF75A_ENST00000498240.2_Intron	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						AAAACTATGAGACTGTCATCT	0.428000													9	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179407396	179407396	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:179407396G>A	ENST00000589042.1	-	348	97409	c.97185C>T	c.(97183-97185)atC>atT	p.I32395I	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.I30754I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.I23522I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.I23330I|TTN_ENST00000342992.6_Silent_p.I29827I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Silent_p.I23455I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30754	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCAAGAATGATAACTTTAA	0.333000													9	162					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70681664	70681664	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:70681664C>A	ENST00000377844.4	-	1	927	c.168G>T	c.(166-168)ctG>ctT	p.L56L	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	56	Ser-rich.				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)		GGCTTTTGAGCAGGCGACTCT	0.627000													11	35					2.68362e-12	3.39695e-12	1	1	0
TRPS1	7227	broad.mit.edu	37	8	116631829	116631829	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:116631829C>A	ENST00000395715.3	-	3	1073	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	TRPS1_ENST00000220888.5_Missense_Mutation_p.D153Y|TRPS1_ENST00000519674.1_Missense_Mutation_p.D153Y|TRPS1_ENST00000519076.1_Missense_Mutation_p.D107Y|TRPS1_ENST00000520276.1_Missense_Mutation_p.D157Y	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	153					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATCTTCTGATCTTCCTTTGTC	0.522000									Langer-Giedion syndrome				5	79					1.23904e-05	1.38834e-05	1	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16838711	16838711	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:16838711C>A	ENST00000355661.3	-	11	1512	c.1502G>T	c.(1501-1503)cGa>cTa	p.R501L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R501L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R501L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	501					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTGGCTGGCTCGGTCCTGCGC	0.642000													19	71					2.94398e-08	3.52979e-08	1	1	0
ZNF230	7773	broad.mit.edu	37	19	44515277	44515277	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:44515277A>G	ENST00000429154.2	+	5	1314	c.1086A>G	c.(1084-1086)aaA>aaG	p.K362K		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GTGGAGAAAAACCATACAGAT	0.438000													34	109					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125280187	125280187	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:125280187C>T	ENST00000298282.9	+	8	955	c.684C>T	c.(682-684)atC>atT	p.I228I	PKNOX2_ENST00000542175.1_Silent_p.I164I|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	228						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AGGGCAACATCGCCATGACAA	0.587000													11	74					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42569853	42569853	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:42569853G>T	ENST00000262895.3	-	1	69	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	GRIK5_ENST00000301218.4_Missense_Mutation_p.L24M|GRIK5_ENST00000593562.1_Missense_Mutation_p.L24M	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	24						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CCCATGCGCAGTGATGAGAGC	0.677000													3	4					0.115264	0.116847	1	1	0
GPC6	10082	broad.mit.edu	37	13	94482506	94482506	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:94482506A>G	ENST00000377047.4	+	3	1034	c.419A>G	c.(418-420)cAg>cGg	p.Q140R	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	140						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GAAGTCTTCCAGGACCTCTTC	0.453000													4	64					0	0	1	0	0
C11orf88	399949	broad.mit.edu	37	11	111386832	111386832	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:111386832A>C	ENST00000529167.1	+	3	336	c.336A>C	c.(334-336)caA>caC	p.Q112H	RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Missense_Mutation_p.Q112H|C11orf88_ENST00000332814.6_Missense_Mutation_p.Q112H			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	112										endometrium(1)|large_intestine(3)|lung(2)	6						AGTATCTCCAAAAGGTAGGCC	0.308000													5	59					0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38212698	38212698	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:38212698G>T	ENST00000323205.6	+	9	1374	c.1311G>T	c.(1309-1311)gtG>gtT	p.V437V	GCAT_ENST00000248924.6_Silent_p.V411V	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	411					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TCGTGGAAGTGGGGCGACTGC	0.622000													10	40					3.07112e-06	3.50773e-06	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64580082	64580082	+	Silent	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:64580082T>G	ENST00000357395.3	+	67	12932	c.1788T>G	c.(1786-1788)gcT>gcG	p.A596A	SYNE2_ENST00000394768.2_Silent_p.A596A|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.A4226A|SYNE2_ENST00000358025.3_Silent_p.A4211A|SYNE2_ENST00000555002.1_Silent_p.A845A|SYNE2_ENST00000344113.4_Silent_p.A4211A			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4211					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTATTGAGGCTGACACTCTGG	0.552000													4	38					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813864	106813864	+	Silent	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:106813864T>A	ENST00000407775.2	+	8	1804	c.1554T>A	c.(1552-1554)gcT>gcA	p.A518A	ZFPM2_ENST00000378472.4_Silent_p.A249A|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.A386A|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Silent_p.A386A|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	518					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGATCTTAGCTAAGATGTCTG	0.502000													29	106					0	0	1	0	0
APOC1	341	broad.mit.edu	37	19	45419501	45419501	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:45419501A>G	ENST00000588750.1	+	4	438	c.113A>G	c.(112-114)aAg>aGg	p.K38R	APOC1_ENST00000589781.1_Intron|APOC1_ENST00000588802.1_Missense_Mutation_p.K38R|APOC1_ENST00000586638.1_Missense_Mutation_p.K38R|APOC1_ENST00000252491.4_Missense_Mutation_p.K38R|APOC1_ENST00000592885.1_Missense_Mutation_p.K38R			P02654	APOC1_HUMAN	apolipoprotein C-I	38					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GATAAGCTGAAGGAGTTTGGA	0.527000													11	57					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749432	196749432	+	Silent	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:196749432T>A	ENST00000312428.6	-	35	5740	c.5640A>T	c.(5638-5640)ccA>ccT	p.P1880P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1880					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						GATCTGAAATTGGACTTTCCA	0.363000													17	55					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72054904	72054904	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:72054904C>G	ENST00000555818.1	+	2	663	c.315C>G	c.(313-315)tgC>tgG	p.C105W	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.C105W|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.C105W	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	105					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTCAAGTTGCCTTGATAGCC	0.463000													16	88					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98684621	98684621	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:98684621A>G	ENST00000288985.7	+	8	1672	c.1367A>G	c.(1366-1368)tAt>tGt	p.Y456C	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.Y267C|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	456					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										AAAACCTTGTATCTCAGTTAC	0.388000													4	17					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486217	37486217	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:37486217G>T	ENST00000374660.1	+	34	2911	c.2812G>T	c.(2812-2814)Gag>Tag	p.E938*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.E819*|ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.E819*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	993						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAGCCTCCCGAGAAGCCATC	0.323000													61	143					4.10029e-35	5.50277e-35	1	1	0
TAOK1	57551	broad.mit.edu	37	17	27849414	27849414	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:27849414T>C	ENST00000261716.3	+	17	2544	c.2025T>C	c.(2023-2025)tgT>tgC	p.C675C	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	675					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGATGCGCTGTGAGTTGATCA	0.448000													14	81					0	0	1	0	0
TIMP3	7078	broad.mit.edu	37	22	33255323	33255323	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:33255323G>C	ENST00000266085.6	+	5	896	c.595G>C	c.(595-597)Gcc>Ccc	p.A199P	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	199					negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGAGGATGGGCCCCCCCGGA	0.607000													4	28					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57244594	57244594	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:57244594C>A	ENST00000205214.6	-	4	568	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.D30Y|AASDH_ENST00000502617.1_Missense_Mutation_p.D130Y|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_5'UTR|AASDH_ENST00000451613.1_Missense_Mutation_p.D130Y	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	130					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTAAATGTATCATAGTTCAAT	0.303000													18	20					5.35267e-07	6.25272e-07	1	1	0
SOX7	83595	broad.mit.edu	37	8	10583693	10583693	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:10583693G>A	ENST00000304501.1	-	2	800	c.722C>T	c.(721-723)cCg>cTg	p.P241L	SOX7_ENST00000553390.1_Missense_Mutation_p.P293L|SOX7_ENST00000554914.1_Missense_Mutation_p.P293L	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	241					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CGGTGAGTACGGGTGCCCTGG	0.687000													6	37					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48697504	48697504	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:48697504C>T	ENST00000544264.1	-	1	2844	c.2564G>A	c.(2563-2565)cGg>cAg	p.R855Q	CELSR3_ENST00000164024.4_Missense_Mutation_p.R855Q			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	855	Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAAGACCGGCCGATGAGTGTT	0.502000													25	67					0	0	1	0	0
MED21	9412	broad.mit.edu	37	12	27181251	27181251	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:27181251C>A	ENST00000282892.3	+	4	322	c.292C>A	c.(292-294)Cat>Aat	p.H98N	MED21_ENST00000546323.1_Missense_Mutation_p.H98N|MED21_ENST00000536503.1_3'UTR	NM_001271811.1|NM_004264.3	NP_001258740.1|NP_004255.2	Q13503	MED21_HUMAN	mediator complex subunit 21	98					positive regulation of transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|transcription coactivator activity					Colorectal(261;0.0847)					AGAAGAAAACCATGAAGCTGC	0.383000													7	123					8.12818e-05	8.88832e-05	1	1	0
LILRB5	10990	broad.mit.edu	37	19	54757905	54757905	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:54757905G>A	ENST00000450632.1	-	8	1383	c.1306C>T	c.(1306-1308)Ccc>Tcc	p.P436S	LILRB5_ENST00000345866.6_Missense_Mutation_p.P345S|LILRB5_ENST00000449561.2_Missense_Mutation_p.P445S|LILRB5_ENST00000316219.5_Missense_Mutation_p.P444S			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	444					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AACCCCGTGGGGGTGAGGGGC	0.701000													4	3					0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18064154	18064154	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:18064154G>T	ENST00000327451.5	+	5	712	c.174G>T	c.(172-174)gcG>gcT	p.A58A	SLC25A18_ENST00000399813.1_Silent_p.A58A|SLC25A18_ENST00000497401.1_3'UTR|AC004019.13_ENST00000443935.1_RNA	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	58						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	CGGCTCGGGCGGAGGGCTTCT	0.642000													8	73					0.0581538	0.0593601	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140870009	140870009	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:140870009A>T	ENST00000252087.1	+	1	1202	c.1202A>T	c.(1201-1203)gAg>gTg	p.E401V	PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		401	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCCTTCTGAGAACCACTAC	0.532000													29	93					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44050063	44050063	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:44050063G>A	ENST00000543989.1	-	6	1856	c.151C>T	c.(151-153)Cga>Tga	p.R51*	ABCG5_ENST00000405322.1_Nonsense_Mutation_p.R275*|ABCG5_ENST00000260645.1_Nonsense_Mutation_p.R446*			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	446					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGACAGCTCGCAGCACGGGA	0.582000													5	10					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47681570	47681570	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:47681570G>A	ENST00000283303.2	+	6	847	c.589G>A	c.(589-591)Gca>Aca	p.A197T	GPR115_ENST00000371220.1_Missense_Mutation_p.A254T|GPR115_ENST00000327753.3_Missense_Mutation_p.A197T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	197					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCTCGACACAGCAGCCATTTC	0.413000													71	51					0	0	1	0	0
ROPN1L	83853	broad.mit.edu	37	5	10461362	10461362	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:10461362C>A	ENST00000503804.1	+	5	1005	c.484C>A	c.(484-486)Cgc>Agc	p.R162S	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Missense_Mutation_p.R162S			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	162					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CGGGCCCGCTCGCATCCCCTT	0.562000													39	55					5.04308e-16	6.55934e-16	1	1	0
MRGPRX3	117195	broad.mit.edu	37	11	18159239	18159239	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:18159239C>A	ENST00000396275.2	+	3	851	c.490C>A	c.(490-492)Ctg>Atg	p.L164M		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	164						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGTGACTTCCTGTTTAGTGG	0.522000													7	76					0.0293803	0.0301461	1	1	0
SLC7A4	6545	broad.mit.edu	37	22	21384512	21384512	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:21384512T>C	ENST00000382932.2	-	3	1178	c.1111A>G	c.(1111-1113)Acc>Gcc	p.T371A	SLC7A4_ENST00000403586.1_Missense_Mutation_p.T371A	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	371					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AACGCCAGGGTGCCCGCCACA	0.632000													3	31					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382941	22382941	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:22382941A>G	ENST00000328795.4	+	1	560	c.469A>G	c.(469-471)Att>Gtt	p.I157V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTCCACTCCATTATCCAGGT	0.537000													10	124					0	0	1	0	0
DPT	1805	broad.mit.edu	37	1	168670267	168670267	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:168670267G>A	ENST00000367817.3	-	3	616	c.527C>T	c.(526-528)tCt>tTt	p.S176F		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	176	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TTCCACTGCAGAGAAAGTGGT	0.433000													23	155					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545503	234545503	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:234545503C>T	ENST00000344644.5	+	1	404	c.335C>T	c.(334-336)tCa>tTa	p.S112L	UGT1A10_ENST00000373445.1_Missense_Mutation_p.S112L|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTAATGAGTTCATCCAGTGGT	0.383000													18	111					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904663	55904663	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:55904663A>G	ENST00000301529.1	-	1	531	c.532T>C	c.(532-534)Tac>Cac	p.Y178H		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATATCACAGTAAAAATGATTG	0.348000													13	54					0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147084797	147084797	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:147084797A>C	ENST00000370467.3	+	2	428	c.354A>C	c.(352-354)gaA>gaC	p.E118D		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	118						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGGAAGAAGATTCCGCAT	0.353000													5	76					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42341662	42341662	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:42341662G>A	ENST00000217026.4	+	12	1867	c.1740G>A	c.(1738-1740)aaG>aaA	p.K580K	MYBL2_ENST00000396863.4_Silent_p.K556K	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	580						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCCCCATCAAGAAAGTCCGGA	0.552000													8	13					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101606267	101606267	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:101606267C>T	ENST00000284395.5	+	33	6016	c.5616C>T	c.(5614-5616)tgC>tgT	p.C1872C	LRRK1_ENST00000388948.3_Silent_p.C1875C|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1875					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCACCGACTGCGAGGACTCAG	0.642000													7	44					0	0	1	0	0
HACL1	26061	broad.mit.edu	37	3	15621450	15621450	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:15621450T>C	ENST00000321169.5	-	9	1137	c.770A>G	c.(769-771)aAc>aGc	p.N257S	HACL1_ENST00000456194.2_Missense_Mutation_p.N230S|HACL1_ENST00000457447.2_Missense_Mutation_p.N231S|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000451445.2_Missense_Mutation_p.N175S	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	257					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GTATGGATGGTTGTCAGGGAC	0.428000													24	59					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69978228	69978228	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:69978228A>G	ENST00000305231.7	+	6	1410	c.1364A>G	c.(1363-1365)aAg>aGg	p.K455R	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	455					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAACCAGTGAAGCCCCTGGAT	0.418000													21	61					0	0	1	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078555	107078555	+	RNA	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:107078555G>A	ENST00000390628.2	-	0	229																											CGAGCCTGTCGCACCCACTGC	0.537000													29	59					0	0	1	0	0
C5orf34	375444	broad.mit.edu	37	5	43490815	43490815	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:43490815T>C	ENST00000306862.2	-	11	1972	c.1597A>G	c.(1597-1599)Aca>Gca	p.T533A	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	533										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					CACCATGATGTTACTGTTGTC	0.313000													6	29					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93098038	93098038	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:93098038G>T	ENST00000359558.2	-	8	863	c.564C>A	c.(562-564)ttC>ttA	p.F188L	CALCR_ENST00000421592.1_Missense_Mutation_p.F170L|CALCR_ENST00000394441.1_Missense_Mutation_p.F170L|CALCR_ENST00000426151.1_Missense_Mutation_p.F170L|CALCR_ENST00000360249.4_Missense_Mutation_p.F170L	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	170					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TGAAAAACACGAAAATCCCCA	0.398000													20	13					2.70639e-06	3.11222e-06	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2063832	2063832	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:2063832C>A	ENST00000262113.4	+	26	3402	c.3261C>A	c.(3259-3261)acC>acA	p.T1087T	MYOM2_ENST00000523438.1_Silent_p.T512T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1087					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATGAGGGGACCTACACTGTGC	0.383000													6	58					5.9392e-07	6.91735e-07	1	1	0
ITGB8	3696	broad.mit.edu	37	7	20420306	20420306	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:20420306G>C	ENST00000222573.3	+	5	1337	c.653G>C	c.(652-654)tGc>tCc	p.C218S	ITGB8_ENST00000537992.1_Missense_Mutation_p.C83S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	218	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AATTTAGACTGCATGCCTCCC	0.378000													12	74					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100345264	100345264	+	RNA	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:100345264G>A	ENST00000542585.1	+	0	1171				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_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)			GACGGATACAGGTACAGAGAA	0.532000													5	27					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43132458	43132458	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:43132458A>G	ENST00000342374.4	-	8	1210	c.1053T>C	c.(1051-1053)tcT>tcC	p.S351S	SERINC3_ENST00000541235.1_Silent_p.S296S|SERINC3_ENST00000255175.1_Silent_p.S351S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	351						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TAACTTACCTAGAATACAAGA	0.363000													14	82					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71952986	71952986	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:71952986A>G	ENST00000355327.3	+	8	1404	c.1270A>G	c.(1270-1272)Agc>Ggc	p.S424G	THSD4_ENST00000261862.6_Missense_Mutation_p.S424G|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.S64G			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	424						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGCCCTCACCAGCCTGGGCTA	0.542000													6	70					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113304920	113304920	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:113304920A>T	ENST00000297405.5	-	55	8878	c.8634T>A	c.(8632-8634)ccT>ccA	p.P2878P	CSMD3_ENST00000352409.3_Silent_p.P2808P|CSMD3_ENST00000455883.2_Silent_p.P2709P|CSMD3_ENST00000343508.3_Silent_p.P2838P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2878	Sushi 19.					integral to membrane|plasma membrane		p.P2878P(1)|p.P2838P(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGGACTACCAGGGTGACCAC	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	42					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124482530	124482530	+	Silent	SNP	C	C	T	rs150931917	by1000genomes	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:124482530C>T	ENST00000296181.4	-	15	2636	c.2340G>A	c.(2338-2340)acG>acA	p.T780T		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	780					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCACAGTGTGCGTGGAGATAG	0.498000													6	36					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47681749	47681749	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:47681749G>T	ENST00000525123.1	-	19	2970	c.2685C>A	c.(2683-2685)tcC>tcA	p.S895S	AGBL2_ENST00000357610.3_Silent_p.S897S|AGBL2_ENST00000298861.4_Silent_p.S895S	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	895					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ATATGTGCAAGGATGGGTATG	0.522000													7	52					2.0095e-06	2.31308e-06	1	1	0
DDX59	83479	broad.mit.edu	37	1	200635559	200635559	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:200635559C>A	ENST00000447706.2	-	2	461	c.310G>T	c.(310-312)Ggg>Tgg	p.G104W	DDX59_ENST00000367348.3_Missense_Mutation_p.G104W|DDX59_ENST00000331314.6_Missense_Mutation_p.G104W			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	104						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATGGGTTCCCCTGGTTCTGCC	0.473000													19	48					1.37878e-21	1.83786e-21	1	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187702270	187702270	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:187702270C>A	ENST00000295131.2	-	5	545	c.506G>T	c.(505-507)gGc>gTc	p.G169V		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	169					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AATACTATTGCCACAGCCAAA	0.289000													11	42					1.61879e-10	1.99769e-10	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139620214	139620214	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:139620214C>T	ENST00000303045.6	-	57	4443	c.3997G>A	c.(3997-3999)Gga>Aga	p.G1333R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1313R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1333	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGGAGATCCCGGTGATCCA	0.532000										HNSCC(7;0.00092)			6	38					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141428	63141428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:63141428G>A	ENST00000310969.4	+	3	837	c.569G>A	c.(568-570)tGg>tAg	p.W190*	SLC22A9_ENST00000279178.3_Missense_Mutation_p.G242S			Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	0					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GTGCCCTTCTGGTATTGCATT	0.478000													10	30					0	0	1	0	0
CPO	130749	broad.mit.edu	37	2	207804357	207804357	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:207804357G>T	ENST00000272852.3	+	1	80	c.34G>T	c.(34-36)Ggg>Tgg	p.G12W		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	12					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TTATCTTTTGGGGATGCTGGT	0.418000													12	80					0.000978159	0.00104544	1	1	0
OR4C46	119749	broad.mit.edu	37	11	51515322	51515322	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:51515322G>T	ENST00000328188.1	+	1	41	c.41G>T	c.(40-42)gGg>gTg	p.G14V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G14E(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GTTTTGCTGGGGCTTACAGAG	0.333000													31	67					1.99505e-19	2.63847e-19	1	1	0
KIF17	57576	broad.mit.edu	37	1	20998460	20998460	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:20998460G>T	ENST00000247986.2	-	12	3003	c.2693C>A	c.(2692-2694)cCc>cAc	p.P898H	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Missense_Mutation_p.P798H|KIF17_ENST00000400463.3_Missense_Mutation_p.P898H			Q9P2E2	KIF17_HUMAN	kinesin family member 17	898					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGTGATGACGGGATGTGGGAT	0.577000													17	65					1.15088e-07	1.36602e-07	1	1	0
KIF27	55582	broad.mit.edu	37	9	86474140	86474140	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:86474140C>A	ENST00000297814.2	-	14	3224	c.3081G>T	c.(3079-3081)aaG>aaT	p.K1027N	RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000592283.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.K961N|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.K930N|RP11-575L7.4_ENST00000590368.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1027					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GGAGCTGATCCTTTTCTTTCT	0.413000													7	79					0.00198382	0.00209936	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77397757	77397757	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:77397757A>G	ENST00000451710.3	-	22	3169	c.2932T>C	c.(2932-2934)Ttc>Ctc	p.F978L	TRPM6_ENST00000361255.3_Missense_Mutation_p.F973L|TRPM6_ENST00000360774.1_Missense_Mutation_p.F978L|TRPM6_ENST00000449912.2_Missense_Mutation_p.F973L|TRPM6_ENST00000376864.4_Missense_Mutation_p.F978L|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	978					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACAATATAGAACATGTTTGCT	0.443000													6	28					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20044841	20044841	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:20044841T>C	ENST00000343769.5	+	4	1105	c.1077T>C	c.(1075-1077)caT>caC	p.H359H	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	359						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TTAGTAGACATGAGTTCATTC	0.373000													9	64					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48367950	48367950	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:48367950G>T	ENST00000380518.3	-	53	4403	c.4239C>A	c.(4237-4239)atC>atA	p.I1413I	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.I1344I	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1413	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)	TGGAGCCCTGGATGAGCAGGG	0.582000													5	59					0.000602214	0.000644801	1	1	0
EXPH5	23086	broad.mit.edu	37	11	108381280	108381280	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:108381280C>A	ENST00000265843.4	-	6	5064	c.4954G>T	c.(4954-4956)Gag>Tag	p.E1652*	EXPH5_ENST00000443411.1_Nonsense_Mutation_p.E1464*|EXPH5_ENST00000428840.1_Nonsense_Mutation_p.E1576*|EXPH5_ENST00000525344.1_Nonsense_Mutation_p.E1645*	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1652					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCAATGGACTCTGCAGATTTT	0.483000													42	110					7.63091e-17	1.00135e-16	1	1	0
CCDC172	374355	broad.mit.edu	37	10	118084561	118084561	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:118084561C>A	ENST00000333254.3	+	2	289	c.38C>A	c.(37-39)aCc>aAc	p.T13N	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		ATCATCTTCACCGAGCATCAG	0.517000													6	34					0.0293803	0.0301461	1	1	0
EPHA4	2043	broad.mit.edu	37	2	222322627	222322627	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:222322627T>C	ENST00000281821.2	-	6	1443	c.1402A>G	c.(1402-1404)Aat>Gat	p.N468D	EPHA4_ENST00000409938.1_Missense_Mutation_p.N468D|EPHA4_ENST00000409854.1_Missense_Mutation_p.N468D|EPHA4_ENST00000392071.4_Missense_Mutation_p.N417D	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	468	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATTACCCCATTGGGCCGATCT	0.428000													14	64					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41355874	41355874	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:41355874G>T	ENST00000301141.5	-	2	212	c.192C>A	c.(190-192)cgC>cgA	p.R64R	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	64					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CGGGGCCATAGCGCTCACTGA	0.617000													11	49					0.00010058	0.000109783	1	1	0
KIAA1549	57670	broad.mit.edu	37	7	138603198	138603198	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:138603198C>T	ENST00000440172.1	-	2	1222	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	KIAA1549_ENST00000242365.4_Missense_Mutation_p.E342K|KIAA1549_ENST00000422774.1_Missense_Mutation_p.E392K	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	392						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTATGCAATTCGGATGTTTTG	0.512000			O	BRAF	pilocytic astrocytoma								5	72					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103385907	103385907	+	Missense_Mutation	SNP	G	G	T	rs151195708		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:103385907G>T	ENST00000358392.2	-	49	4075	c.3758C>A	c.(3757-3759)cCc>cAc	p.P1253H	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1125H|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1241H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1202H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1241	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGACCCTGGGGGTCCTTGTGG	0.353000													22	66					1.87028e-06	2.16337e-06	1	1	0
TENM2	57451	broad.mit.edu	37	5	167379732	167379732	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:167379732C>G	ENST00000519204.1	+	3	607	c.489C>G	c.(487-489)gcC>gcG	p.A163A	TENM2_ENST00000520394.1_Silent_p.A93A|TENM2_ENST00000545108.1_Silent_p.A284A|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000518659.1_Silent_p.A284A|TENM2_ENST00000403607.2_Silent_p.A117A					teneurin transmembrane protein 2																		AGATCCACGCCCCGGCCCCAG	0.622000													3	1					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100672099	100672099	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:100672099C>T	ENST00000370132.3	-	9	1124	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	371					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGTTCAGTGGCGATGTCAAAT	0.428000													12	166					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38905617	38905617	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:38905617G>C	ENST00000454404.2	-	9	1212	c.999C>G	c.(997-999)gaC>gaG	p.D333E	RASGRP4_ENST00000587753.1_Intron|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000586305.1_Missense_Mutation_p.D353E|RASGRP4_ENST00000293062.9_Missense_Mutation_p.D270E|RASGRP4_ENST00000433821.2_Intron|RASGRP4_ENST00000587738.1_Missense_Mutation_p.D367E	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	367	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGCAACCTGTCGGGCTGTG	0.682000													3	11					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364088	5364088	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:5364088C>T	ENST00000300773.2	-	1	721	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTCAGGACAGTCTTGAGT	0.448000													5	68					0	0	1	0	0
ADORA1	134	broad.mit.edu	37	1	203134679	203134679	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:203134679T>G	ENST00000367236.4	+	3	1553	c.632T>G	c.(631-633)cTc>cGc	p.L211R	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.L211R|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.L211R	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	211					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CGCAAGCAGCTCAACAAGAAG	0.557000													6	96					0	0	1	0	0
TMEM133	83935	broad.mit.edu	37	11	100863357	100863357	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:100863357C>A	ENST00000303130.2	+	1	547	c.318C>A	c.(316-318)acC>acA	p.T106T		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	106						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TCATTGTCACCGTTATCCCCC	0.413000													16	204					3.41278e-10	4.20281e-10	1	1	0
SGOL2	151246	broad.mit.edu	37	2	201437494	201437494	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:201437494A>G	ENST00000357799.4	+	7	2523	c.2425A>G	c.(2425-2427)Aga>Gga	p.R809G		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	809					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TAAGAAGCCTAGACTAAATGT	0.333000													11	72					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529294	57529294	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:57529294G>T	ENST00000420713.1	+	4	1239	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATTCATACTGGAGAGAAACCC	0.413000													6	28					3.59834e-05	3.97534e-05	1	1	0
ZNF585A	199704	broad.mit.edu	37	19	37644495	37644495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:37644495C>T	ENST00000356958.4	-	5	564	c.306G>A	c.(304-306)tgG>tgA	p.W102*	ZNF585A_ENST00000355533.2_Nonsense_Mutation_p.W47*|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Nonsense_Mutation_p.W47*|ZNF585A_ENST00000292841.5_Nonsense_Mutation_p.W47*			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATTATGGTCCCATAATTTCT	0.318000													24	100					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2857501	2857501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:2857501C>A	ENST00000602557.1	-	54	8740	c.8185G>T	c.(8185-8187)Gga>Tga	p.G2729*	CSMD1_ENST00000520002.1_Nonsense_Mutation_p.G2729*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G2671*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G2671*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G2670*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G2728*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2729	Sushi 18.					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)		GGCGTTTGTCCAGACCACTTG	0.473000													28	69					1.16021e-09	1.42285e-09	1	1	0
HCN1	348980	broad.mit.edu	37	5	45267329	45267329	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:45267329G>T	ENST00000303230.4	-	7	1702	c.1645C>A	c.(1645-1647)Cgt>Agt	p.R549S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	549						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGGCAGTACGACGTCCTTTG	0.408000													19	58					9.7654e-05	0.000106688	1	1	0
C3orf30	152405	broad.mit.edu	37	3	118865972	118865972	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:118865972C>A	ENST00000295622.1	+	1	976	c.936C>A	c.(934-936)ggC>ggA	p.G312G		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	312			G -> S (in dbSNP:rs4077930).							NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAGTGTACGGCCAAGCCACTG	0.493000													16	43					1.99824e-07	2.36702e-07	1	1	0
H2AFY	9555	broad.mit.edu	37	5	134724751	134724751	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:134724751G>T	ENST00000511689.1	-	2	626	c.33C>A	c.(31-33)acC>acA	p.T11T	H2AFY_ENST00000423969.2_Silent_p.T11T|H2AFY_ENST00000312469.4_Silent_p.T11T|H2AFY_ENST00000510038.1_Silent_p.T11T|H2AFY_ENST00000304332.4_Silent_p.T11T	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	11	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGACGTCTTGGTGGACTTCT	0.617000													6	36					3.59834e-05	3.97534e-05	1	1	0
RBM4	5936	broad.mit.edu	37	11	66411054	66411054	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:66411054C>T	ENST00000409406.1	+	2	1323	c.546C>T	c.(544-546)cgC>cgT	p.R182R	RBM14-RBM4_ENST00000412278.2_Silent_p.R157R|RBM4_ENST00000408993.2_Silent_p.R182R|RBM4_ENST00000503028.2_Silent_p.R182R|RBM4_ENST00000514361.3_Silent_p.R157R|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000310092.7_Silent_p.R182R|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000530235.1_Intron					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GTTCAGGCCGCGTGGCAGACT	0.557000													7	29					0	0	1	0	0
LGALS1	3956	broad.mit.edu	37	22	38075703	38075703	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:38075703A>G	ENST00000215909.5	+	4	450	c.355A>G	c.(355-357)Aac>Gac	p.N119D	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	119	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					GGAGGCCATCAACTACATGGC	0.562000													16	56					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1279656	1279656	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:1279656G>A	ENST00000381312.1	-	6	1818	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	498	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GATCTCGTAGGGAGAGTGGAG	0.552000													25	82					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101747700	101747700	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:101747700A>T	ENST00000360264.3	+	6	544	c.524A>T	c.(523-525)aAg>aTg	p.K175M	CUX1_ENST00000549414.2_Missense_Mutation_p.K164M|CUX1_ENST00000547394.2_Missense_Mutation_p.K159M|CUX1_ENST00000546411.2_Missense_Mutation_p.K164M|CUX1_ENST00000437600.4_Missense_Mutation_p.K175M|CUX1_ENST00000425244.2_Missense_Mutation_p.K129M|CUX1_ENST00000393824.3_Missense_Mutation_p.K138M|CUX1_ENST00000556210.1_Missense_Mutation_p.K164M|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000550008.2_Missense_Mutation_p.K164M|CUX1_ENST00000292535.7_Missense_Mutation_p.K164M|CUX1_ENST00000292538.4_Missense_Mutation_p.K175M	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	164					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCTCTTGAGAAGGAACAGAAG	0.418000													16	64					0	0	1	0	0
FAM57A	79850	broad.mit.edu	37	17	641168	641168	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:641168T>A	ENST00000308278.8	+	3	525	c.289T>A	c.(289-291)Tgc>Agc	p.C97S	FAM57A_ENST00000301324.8_Missense_Mutation_p.C97S|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	97	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		CTGTGAATGGTGCCGAACCAG	0.493000													29	60					0	0	1	0	0
BCKDHB	594	broad.mit.edu	37	6	80910666	80910666	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:80910666T>A	ENST00000320393.6	+	7	805	c.758T>A	c.(757-759)aTa>aAa	p.I253K	BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Missense_Mutation_p.I253K	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	253					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GAAGTCCCTATAGAACCATAC	0.428000													5	41					0	0	1	0	0
APOBEC4	403314	broad.mit.edu	37	1	183616967	183616967	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:183616967A>G	ENST00000308641.4	-	2	1221	c.950T>C	c.(949-951)gTa>gCa	p.V317A	RGL1_ENST00000367531.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	317					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TAAGTGCCTTACGATATTCCT	0.478000													19	148					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30325585	30325585	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:30325585G>A	ENST00000361371.4	-	17	3343	c.3193C>T	c.(3193-3195)Cgt>Tgt	p.R1065C	LTN1_ENST00000389194.2_Missense_Mutation_p.R1111C	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1065							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CCAAGTACACGTAAGTTATCA	0.318000													14	71					0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109241348	109241348	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:109241348T>C	ENST00000220849.5	-	6	610	c.548A>G	c.(547-549)gAt>gGt	p.D183G	EIF3E_ENST00000519030.1_Missense_Mutation_p.D90G|EIF3E_ENST00000519517.1_5'UTR	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	183	Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CATGGCTGCATCCCAATTCTG	0.368000													13	59					0	0	1	0	0
DNAL4	10126	broad.mit.edu	37	22	39176983	39176983	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:39176983T>G	ENST00000216068.4	-	3	345	c.101A>C	c.(100-102)gAg>gCg	p.E34A	DNAL4_ENST00000486019.1_Intron|SUN2_ENST00000406622.1_Intron|DNAL4_ENST00000406199.3_Missense_Mutation_p.E34A	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4	34					microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity			lung(1)|skin(1)	2	Melanoma(58;0.04)					CTCCATGGTCTCCACGCGCAT	0.577000													7	38					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11421475	11421475	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:11421475C>T	ENST00000259089.4	+	13	1968	c.1376C>T	c.(1375-1377)aCc>aTc	p.T459I	BLK_ENST00000529894.1_Missense_Mutation_p.T388I	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	459	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CGCCCCGACACCTGCCCGCCC	0.721000													3	14					0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171777413	171777413	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:171777413G>A	ENST00000311601.5	-	10	1136	c.966C>T	c.(964-966)gaC>gaT	p.D322D	SH3PXD2B_ENST00000519643.1_Silent_p.D322D	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	322					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAACCGCCCGTCCCTCTGGC	0.662000													4	40					0	0	1	0	0
IFIT2	3433	broad.mit.edu	37	10	91066380	91066380	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:91066380C>T	ENST00000371826.3	+	2	836	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	223					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TCATAAGATGCGTGAAGAAGG	0.493000													12	69					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820879	35820879	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:35820879C>G	ENST00000399989.1	+	2	845	c.566C>G	c.(565-567)aCc>aGc	p.T189S	MAGEB16_ENST00000399985.1_Missense_Mutation_p.T189S|MAGEB16_ENST00000399992.1_Missense_Mutation_p.T221S|MAGEB16_ENST00000399987.1_Missense_Mutation_p.T189S|MAGEB16_ENST00000399988.1_Missense_Mutation_p.T189S	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	189	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGGGCCTCACCTATGATGGG	0.527000													15	15					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	161056554	161056554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:161056554G>T	ENST00000283249.2	-	1	258	c.21C>A	c.(19-21)tgC>tgA	p.C7*	ITGB6_ENST00000409967.2_Nonsense_Mutation_p.C7*|ITGB6_ENST00000485635.1_Intron|ITGB6_ENST00000428609.2_5'UTR|ITGB6_ENST00000409872.1_Nonsense_Mutation_p.C7*			P18564	ITB6_HUMAN	integrin, beta 6	7					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GAAAGAACAGGCAAAGCAGTT	0.398000													5	65					1.23904e-05	1.38834e-05	1	1	0
ITGAD	3681	broad.mit.edu	37	16	31426269	31426269	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:31426269G>A	ENST00000389202.2	+	18	2289	c.2240G>A	c.(2239-2241)cGt>cAt	p.R747H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	747					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGAACCTGCGTCCTGTGCTG	0.547000													8	49					0	0	1	0	0
G2E3	55632	broad.mit.edu	37	14	31077152	31077152	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:31077152C>T	ENST00000206595.6	+	12	1531	c.1377C>T	c.(1375-1377)caC>caT	p.H459H	G2E3_ENST00000438909.2_Silent_p.H413H|G2E3_ENST00000553504.1_Silent_p.H489H	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	459	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTTTAGTTCACGGTGGTCCTT	0.348000													8	46					0	0	1	0	0
HADHB	3032	broad.mit.edu	37	2	26486254	26486254	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:26486254A>T	ENST00000317799.5	+	4	220	c.116A>T	c.(115-117)cAg>cTg	p.Q39L	HADHB_ENST00000405867.3_Missense_Mutation_p.Q39L|HADHB_ENST00000537713.1_Missense_Mutation_p.Q39L|HADHB_ENST00000545822.1_Missense_Mutation_p.Q17L|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	39					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGCTGTCCAGACCAAAACG	0.333000													9	67					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867096	6867096	+	Nonsense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:6867096C>G	ENST00000299454.4	+	1	214	c.183C>G	c.(181-183)taC>taG	p.Y61*	OR10A5_ENST00000379831.2_Nonsense_Mutation_p.Y65*			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCCCATGTACTTCTTCCTCA	0.473000													37	135					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17823622	17823622	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:17823622C>G	ENST00000325083.8	+	19	3409	c.2970C>G	c.(2968-2970)ctC>ctG	p.L990L	PCM1_ENST00000519253.1_Silent_p.L990L|PCM1_ENST00000524226.1_Silent_p.L991L	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	990					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGTCAGAGCTCTCTTACGTAG	0.413000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								6	18					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	347134	347134	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:347134G>A	ENST00000262320.3	-	7	2248	c.1877C>T	c.(1876-1878)gCg>gTg	p.A626V	AXIN1_ENST00000354866.3_Missense_Mutation_p.A626V	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	626	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GTTCTTCTCCGCATCCTCCGA	0.617000													30	137					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100712139	100712139	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:100712139A>G	ENST00000358544.2	+	36	6619	c.6508A>G	c.(6508-6510)Aag>Gag	p.K2170E	VPS13B_ENST00000357162.2_Missense_Mutation_p.K2145E|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2170					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTTAGTGTCAAGGCAACACA	0.423000													11	28					0	0	1	0	0
CDC40	51362	broad.mit.edu	37	6	110533348	110533348	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:110533348A>G	ENST00000368932.1	+	8	841	c.740A>G	c.(739-741)tAt>tGt	p.Y247C	CDC40_ENST00000368933.1_Missense_Mutation_p.Y247C|CDC40_ENST00000368930.1_Missense_Mutation_p.Y247C|CDC40_ENST00000307731.1_Missense_Mutation_p.Y247C			O60508	PRP17_HUMAN	cell division cycle 40	247					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AAAGAAATGTATGACTATCAA	0.338000													14	41					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21573844	21573844	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:21573844C>T	ENST00000415912.2	-	9	1110	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	ECE1_ENST00000357071.4_Missense_Mutation_p.A333T|ECE1_ENST00000436918.2_Missense_Mutation_p.A345T|ECE1_ENST00000264205.6_Missense_Mutation_p.A342T|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000374893.6_Missense_Mutation_p.A345T	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	345					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CAGTTGATGGCGGGTGCCAAG	0.537000													10	50					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796832	93796832	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:93796832G>A	ENST00000315765.9	+	3	582	c.574G>A	c.(574-576)Gcc>Acc	p.A192T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	192	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCACATCGACGCCCCAAAGGA	0.522000													4	58					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134143555	134143555	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:134143555T>C	ENST00000452510.2	+	16	2230	c.2072T>C	c.(2071-2073)gTa>gCa	p.V691A	DDX46_ENST00000354283.4_Missense_Mutation_p.V691A	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	691	Helicase C-terminal.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGATTCTTGTAGTAAATTAT	0.408000													10	35					0	0	1	0	0
ARIH1	25820	broad.mit.edu	37	15	72873113	72873113	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:72873113T>C	ENST00000379887.4	+	12	1571	c.1257T>C	c.(1255-1257)aaT>aaC	p.N419N	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	419					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TCTACTGTAATCGCTATATGA	0.433000													15	24					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653935	159653935	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:159653935C>T	ENST00000297267.9	+	11	2591	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	FNDC1_ENST00000340366.6_Silent_p.G734G	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	797						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGGAAGACGGCGGAAGGCAGG	0.637000													4	9					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559312	140559312	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:140559312T>A	ENST00000239444.2	+	1	1942	c.1697T>A	c.(1696-1698)cTg>cAg	p.L566Q		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		566					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTACCCGCTGCAGAATGGC	0.721000													9	100					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140693355	140693355	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:140693355G>A	ENST00000460843.1	+	17	2623	c.2596G>A	c.(2596-2598)Gtc>Atc	p.V866I		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	866					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACAGATGGACGTCAACTGTCA	0.557000													8	50					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160999570	160999570	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:160999570C>A	ENST00000447678.1	-	28	4576	c.4456G>T	c.(4456-4458)Gct>Tct	p.A1486S	LPA_ENST00000316300.5_Missense_Mutation_p.A1486S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3994	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCAGAAGGAGCCTCTGTGCTT	0.483000													21	63					1.55795e-14	2.01526e-14	1	1	0
VWF	7450	broad.mit.edu	37	12	6132861	6132861	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:6132861A>G	ENST00000261405.5	-	25	3569	c.3315T>C	c.(3313-3315)gcT>gcC	p.A1105A		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1105					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGGCATAGGCAGCAATGGTGT	0.587000													3	19					0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	633357	633357	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:633357G>T	ENST00000581619.1	+	6	1838	c.991G>T	c.(991-993)Ggg>Tgg	p.G331W	CLUL1_ENST00000540035.1_Missense_Mutation_p.G358W|CLUL1_ENST00000579494.1_Missense_Mutation_p.G306W|CLUL1_ENST00000400606.2_Missense_Mutation_p.G306W|CLUL1_ENST00000338387.7_Missense_Mutation_p.G306W			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	306					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AGGACTGTGTGGGGAACTTGA	0.403000													3	24					0.115264	0.116847	1	1	0
H1FNT	341567	broad.mit.edu	37	12	48723269	48723269	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:48723269C>T	ENST00000335017.1	+	1	507	c.195C>T	c.(193-195)ctC>ctT	p.L65L		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	65					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						AGTTGGTGCTCCAGGCCATCT	0.622000													5	22					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111262	55111262	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:55111262A>G	ENST00000314721.2	+	1	636	c.586A>G	c.(586-588)Act>Gct	p.T196A		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TATAGGACTCACTGTGGTTGC	0.428000													10	183					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901445	160901445	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:160901445A>G	ENST00000283243.7	-	2	539	c.333T>C	c.(331-333)gtT>gtC	p.V111V	PLA2R1_ENST00000392771.1_Silent_p.V111V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	111	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACCGTAAGGAAACGAGGGTGG	0.537000													16	65					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3822091	3822091	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:3822091C>G	ENST00000262961.4	-	9	1489	c.1479G>C	c.(1477-1479)cgG>cgC	p.R493R		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	493						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGTACTGCAGCCGGTGCCGCC	0.697000													3	5					0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38294360	38294360	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:38294360T>C	ENST00000311806.3	+	18	1934	c.1562T>C	c.(1561-1563)tTt>tCt	p.F521S		NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	521					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGATAGGATTTGCCCAGCTC	0.433000													14	19					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101795498	101795498	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:101795498G>A	ENST00000251127.6	-	17	2132	c.2051C>T	c.(2050-2052)aCc>aTc	p.T684I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	684						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAGGAAGAGGTGGTCGGGAG	0.468000													9	36					0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23693478	23693478	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:23693478G>T	ENST00000300093.4	+	4	927	c.816_splice	c.e4+1	p.K272_splice		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	272	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GTATTCCCAAGGTGACTAATG	0.413000													14	39					0.000219431	0.000237969	1	1	0
GRPR	2925	broad.mit.edu	37	X	16168617	16168617	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:16168617C>T	ENST00000380289.2	+	2	1001	c.603C>T	c.(601-603)caC>caT	p.H201H		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	201					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CATACCCACACTCTAATGAGC	0.483000													5	52					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90976659	90976659	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:90976659G>A	ENST00000265433.3	-	8	1127	c.973C>T	c.(973-975)Cct>Tct	p.P325S	NBN_ENST00000409330.1_Missense_Mutation_p.P243S	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	325					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGCCCTGAGGATCACAGTAA	0.333000								Homologous recombination					21	68					0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3100858	3100858	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:3100858G>T	ENST00000381951.1	+	1	46	c.46G>T	c.(46-48)Gga>Tga	p.G16*		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TATTCTCCTGGGAGTTACTAG	0.398000													24	47					1.96895e-08	2.36554e-08	1	1	0
C1orf51	148523	broad.mit.edu	37	1	150255915	150255915	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:150255915C>T	ENST00000290363.5	+	1	687	c.238C>T	c.(238-240)Ccg>Tcg	p.P80S	C1orf51_ENST00000369095.1_Missense_Mutation_p.P80S|C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_5'UTR	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	80										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCATCTCATCCGAAACAGCG	0.562000													18	148					0	0	1	0	0
STARD10	10809	broad.mit.edu	37	11	72466013	72466013	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:72466013C>T	ENST00000334805.6	-	7	1724	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	STARD10_ENST00000538536.1_Missense_Mutation_p.A223T|STARD10_ENST00000545082.1_Missense_Mutation_p.A240T|STARD10_ENST00000543304.1_Missense_Mutation_p.A269T|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000538437.1_5'UTR	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	269										endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			CTGCTCTCGGCCACCGCGCTC	0.706000													3	8					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17353197	17353197	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:17353197A>G	ENST00000261381.6	-	3	645	c.561T>C	c.(559-561)agT>agC	p.S187S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	187					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTTCTGTCTACTCGGTGGCT	0.537000													27	75					0	0	1	0	0
TMEM100	55273	broad.mit.edu	37	17	53798376	53798376	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:53798376G>T	ENST00000575734.1	-	4	864	c.56C>A	c.(55-57)gCg>gAg	p.A19E	TMEM100_ENST00000424486.2_Missense_Mutation_p.A19E	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	19						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						CTCCATCGTCGCTGCCATGTG	0.522000													8	98					0.00448238	0.00470969	1	1	0
GEMIN2	8487	broad.mit.edu	37	14	39597482	39597482	+	Splice_Site	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:39597482A>T	ENST00000308317.6	+	7	647		c.e7-1		GEMIN2_ENST00000250379.8_Splice_Site|GEMIN2_ENST00000396249.2_Splice_Site	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2						ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding										TTTTTTTTTTAGGCAACAGTA	0.308000													5	41					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163074565	163074565	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:163074565T>C	ENST00000188790.4	-	9	900	c.693A>G	c.(691-693)atA>atG	p.I231M	FAP_ENST00000443424.1_Missense_Mutation_p.I206M	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	231					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CAATAACTGGTATATCCGTAT	0.348000													12	60					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171776	68171776	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:68171776C>T	ENST00000243457.3	+	2	979	c.596C>T	c.(595-597)gCc>gTc	p.A199V	KCNJ2_ENST00000535240.1_Missense_Mutation_p.A199V	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	199					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGTCACAATGCCGTGATTGCC	0.512000													7	70					0	0	1	0	0
PNMT	5409	broad.mit.edu	37	17	37826287	37826287	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:37826287T>C	ENST00000269582.2	+	3	812	c.494T>C	c.(493-495)cTg>cCg	p.L165P	PNMT_ENST00000581428.1_3'UTR|PNMT_ENST00000394246.1_Missense_Mutation_p.L67P	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	165					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCCCAGCCCCTGGGTGCTGGG	0.662000													4	41					0	0	1	0	0
ODC1	4953	broad.mit.edu	37	2	10584717	10584717	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:10584717C>T	ENST00000234111.4	-	4	669	c.159G>A	c.(157-159)ctG>ctA	p.L53L	ODC1_ENST00000405333.1_Silent_p.L53L|ODC1_ENST00000446285.1_Intron	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	53					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TTAACCACCTCAGATGTTTCT	0.483000													7	31					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841902	5841902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:5841902G>T	ENST00000317037.2	+	1	359	c.337G>T	c.(337-339)Gag>Tag	p.E113*	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAGGGATGGAGTCTGGGGT	0.527000													5	84					0.184627	0.185412	1	1	0
UBR5	51366	broad.mit.edu	37	8	103273473	103273473	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:103273473A>G	ENST00000520539.1	-	56	8463	c.7857T>C	c.(7855-7857)ccT>ccC	p.P2619P	UBR5_ENST00000518205.1_Silent_p.P347P|UBR5_ENST00000521922.1_Silent_p.P2612P|UBR5_ENST00000220959.4_Silent_p.P2618P	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2619	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTACACCATTAGGAATGAGTT	0.348000													14	72					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43496605	43496605	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:43496605T>C	ENST00000265351.7	-	24	2946	c.2736A>G	c.(2734-2736)gtA>gtG	p.V912V	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	912					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GGATGGGGGATACCAGGGCTT	0.468000													3	16					0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148748059	148748059	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:148748059C>G	ENST00000514349.1	+	5	1636	c.1057C>G	c.(1057-1059)Ctc>Gtc	p.L353V	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.L443V			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	443					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGACCAGCTCTTCTACCT	0.612000													16	49					0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664286	169664286	+	RNA	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:169664286G>T	ENST00000483289.2	-	0	3008				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						GGATCTTGTTGTCCTTGGCCA	0.512000													13	52					7.03913e-09	8.54389e-09	1	1	0
ZNF574	64763	broad.mit.edu	37	19	42584388	42584388	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:42584388A>T	ENST00000600245.1	+	2	2285	c.1630A>T	c.(1630-1632)Aca>Tca	p.T544S	ZNF574_ENST00000359044.4_Missense_Mutation_p.T544S|ZNF574_ENST00000222339.7_Missense_Mutation_p.T634S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	544					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)				CCACCGGCTCACACACACAGG	0.647000													30	112					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31133931	31133931	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:31133931T>C	ENST00000538351.1	-	8	3053	c.2299A>G	c.(2299-2301)Aac>Gac	p.N767D	ZNF438_ENST00000452305.1_Missense_Mutation_p.N806D|ZNF438_ENST00000375311.1_Missense_Mutation_p.N380D|ZNF438_ENST00000444692.2_Missense_Mutation_p.N806D|ZNF438_ENST00000413025.1_Missense_Mutation_p.N816D|ZNF438_ENST00000442986.1_Missense_Mutation_p.N816D|ZNF438_ENST00000331737.6_Missense_Mutation_p.N806D|ZNF438_ENST00000436087.2_Missense_Mutation_p.N816D|ZNF438_ENST00000361310.3_Missense_Mutation_p.N816D	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ACTCCCTGGTTGGAGACCGTA	0.532000													12	226					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101795488	101795488	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:101795488G>A	ENST00000251127.6	-	17	2142	c.2061C>T	c.(2059-2061)tcC>tcT	p.S687S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	687						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTCGCAGGAGGAGGAAGAGG	0.463000													14	38					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758380	5758380	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:5758380G>A	ENST00000317121.3	+	1	700	c.634G>A	c.(634-636)Gca>Aca	p.A212T	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GTTGGTTCTGGCATGGCTTGG	0.453000													21	55					0	0	1	0	0
ZBTB25	7597	broad.mit.edu	37	14	64957119	64957119	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:64957119A>G	ENST00000394715.1	-	5	834	c.133T>C	c.(133-135)Ttt>Ctt	p.F45L	ZBTB25_ENST00000555424.1_Missense_Mutation_p.F45L|ZBTB25_ENST00000555220.1_Missense_Mutation_p.F45L|ZBTB25_ENST00000261683.2_Missense_Mutation_p.F45L			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	45	BTB.					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TAGTTAGAAAAAGCAGCAAGC	0.338000													12	57					0	0	1	0	0
SEPT11	55752	broad.mit.edu	37	4	77936159	77936159	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:77936159G>A	ENST00000264893.6	+	5	877	c.676G>A	c.(676-678)Gca>Aca	p.A226T	SEPT11_ENST00000510515.1_Missense_Mutation_p.A236T|SEPT11_ENST00000541121.1_Missense_Mutation_p.A236T|SEPT11_ENST00000505788.1_Missense_Mutation_p.A226T|SEPT11_ENST00000502584.1_Missense_Mutation_p.A226T|SEPT11_ENST00000512575.1_Intron	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	226					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	p.A226T(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						AGAGATTAACGCAACAATGAG	0.438000													10	50					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120983858	120983858	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:120983858G>T	ENST00000392793.1	+	5	835	c.564G>T	c.(562-564)tgG>tgT	p.W188C	TECTA_ENST00000264037.2_Missense_Mutation_p.W188C			O75443	TECTA_HUMAN	tectorin alpha	188	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAATCAACTGGACCACGGGGA	0.577000											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	28					0.000442599	0.000475191	1	1	0
LOXL3	84695	broad.mit.edu	37	2	74763974	74763974	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:74763974A>T	ENST00000264094.3	-	5	845	c.774T>A	c.(772-774)tgT>tgA	p.C258*	LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409249.1_Nonsense_Mutation_p.C258*|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409549.1_Nonsense_Mutation_p.C258*	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	258	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						ACTCCAGGGAACAGAGGGAGA	0.657000													8	63					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182438611	182438611	+	Splice_Site	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:182438611C>A	ENST00000410087.3	-	3	582	c.481_splice	c.e3-1	p.G161_splice	CERKL_ENST00000409440.3_Intron|CERKL_ENST00000374970.2_Splice_Site_p.G161_splice|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000339098.5_Splice_Site_p.G161_splice	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	161					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTTTGGAAAGCCTAAGAAGAA	0.338000													10	37					1.76689e-08	2.12495e-08	1	1	0
FAM20B	9917	broad.mit.edu	37	1	179013194	179013194	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:179013194T>C	ENST00000263733.4	+	2	548	c.212T>C	c.(211-213)gTg>gCg	p.V71A		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	71						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GCCCAGTGGGTGGTTCCCCGG	0.557000													12	64					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69978313	69978313	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:69978313C>T	ENST00000305231.7	+	6	1495	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	483					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCACGACCTCACCTGGTTCC	0.478000													30	83					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130530745	130530745	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:130530745T>C	ENST00000532763.1	-	4	401	c.272A>G	c.(271-273)gAt>gGt	p.D91G	SAMD3_ENST00000439090.2_Missense_Mutation_p.D93G|SAMD3_ENST00000368134.2_Missense_Mutation_p.D93G|SAMD3_ENST00000437477.2_Missense_Mutation_p.D93G|SAMD3_ENST00000457563.2_Missense_Mutation_p.D117G|SAMD3_ENST00000324172.6_Missense_Mutation_p.D93G|SAMD3_ENST00000533296.1_5'UTR			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	93										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GGACTCTTCATCCCTGTAACT	0.463000													6	8					0	0	1	0	0
ABCF2	10061	broad.mit.edu	37	7	150921105	150921105	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:150921105C>A	ENST00000287844.2	-	4	572	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	ABCF2_ENST00000222388.2_Missense_Mutation_p.D155Y	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	155	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGTCTTGTCACTAGGGGGC	0.557000													10	37					2.17888e-05	2.42989e-05	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77617020	77617020	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:77617020C>G	ENST00000521891.2	+	2	1145	c.697C>G	c.(697-699)Cga>Gga	p.R233G	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R233G|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R233G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R233G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	233						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTATGATCTCCGACACAAGAG	0.468000										HNSCC(33;0.089)			12	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428787	179428787	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:179428787T>C	ENST00000589042.1	-	326	82296	c.82072A>G	c.(82072-82074)Aag>Gag	p.K27358E	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K25717E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K18485E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K18293E|TTN_ENST00000342992.6_Missense_Mutation_p.K24790E|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K18418E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25717	Fibronectin type-III 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATAGACTTTGTACCACCA	0.418000													35	90					0	0	1	0	0
SFXN3	81855	broad.mit.edu	37	10	102796833	102796833	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:102796833A>G	ENST00000393459.1	+	8	1067	c.593_splice	c.e8-1	p.R198_splice	SFXN3_ENST00000224807.5_Splice_Site_p.R202_splice			Q9BWM7	SFXN3_HUMAN	sideroflexin 3	202					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TCCCTTGCAGAGAGCTGCAGG	0.627000													3	20					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692395	135692395	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:135692395A>G	ENST00000513104.1	-	2	963	c.681T>C	c.(679-681)agT>agC	p.S227S	TRPC7_ENST00000355180.3_Silent_p.S227S|TRPC7_ENST00000426057.2_Silent_p.S227S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	227					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTAGGCAGCACTCGCCAGTC	0.552000													8	9					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2132509	2132509	+	Silent	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:2132509T>G	ENST00000355272.6	-	5	629	c.423A>C	c.(421-423)ccA>ccC	p.P141P	AP3D1_ENST00000345016.5_Silent_p.P141P|AP3D1_ENST00000356926.4_Silent_p.P141P|AP3D1_ENST00000350812.6_Intron	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	141					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCAAGGTCTGGGGTGACGA	0.572000													7	86					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33068519	33068519	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:33068519A>G	ENST00000286835.7	-	9	1357	c.975T>C	c.(973-975)gaT>gaC	p.D325D	SCAF4_ENST00000399804.1_Silent_p.D325D|SCAF4_ENST00000434667.3_Silent_p.D310D	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	325						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCTGCATGCCATCTCCAGGAA	0.423000													15	102					0	0	1	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206515	142206515	+	RNA	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:142206515C>A	ENST00000426318.2	-	0	390																											ACTGTGGACTCACTGCTGGCG	0.567000													13	61					1.5739e-10	1.94636e-10	1	1	0
ANK2	287	broad.mit.edu	37	4	114278694	114278694	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:114278694G>T	ENST00000357077.4	+	38	8973	c.8920G>T	c.(8920-8922)Gca>Tca	p.A2974S	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A2941S|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2941					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGTTGTAGTGGCAAGCTCCTC	0.413000													49	115					4.01344e-20	5.33169e-20	1	1	0
MMEL1	79258	broad.mit.edu	37	1	2526778	2526778	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:2526778C>A	ENST00000288709.6	-	16	1734	c.1494G>T	c.(1492-1494)caG>caT	p.Q498H	MMEL1_ENST00000502556.1_Missense_Mutation_p.Q350H|MMEL1_ENST00000378412.3_Missense_Mutation_p.Q507H	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	507					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGTGCCCGATCTGCTCCCGGA	0.652000													6	26					2.0095e-06	2.31308e-06	1	1	0
GRID2	2895	broad.mit.edu	37	4	94344008	94344008	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:94344008A>T	ENST00000282020.4	+	10	1692	c.1434A>T	c.(1432-1434)ttA>ttT	p.L478F	GRID2_ENST00000510992.1_Missense_Mutation_p.L383F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	478					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGGATGCCTTATCTAACTACC	0.428000													11	29					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23809301	23809301	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:23809301G>A	ENST00000354639.3	+	13	2034	c.1570G>A	c.(1570-1572)Gca>Aca	p.A524T	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.A547T|STK31_ENST00000428484.1_Missense_Mutation_p.A524T|STK31_ENST00000433467.2_Missense_Mutation_p.A547T	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	547							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCAGAAGACGCAATGGATAA	0.353000													48	71					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21926504	21926504	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:21926504C>T	ENST00000240662.2	-	2	392	c.47G>A	c.(46-48)cGc>cAc	p.R16H		NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	16						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TGCGGCGATGCGCGCCAGCAC	0.627000											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	110					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931868	23931868	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:23931868G>A	ENST00000331837.4	-	1	582	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	166	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTTGACCAGCGCAAACTCCAT	0.632000									Prader-Willi syndrome				4	20					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6631174	6631174	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:6631174C>T	ENST00000333172.6	+	2	590	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	TAS1R1_ENST00000328191.4_Missense_Mutation_p.L133F|TAS1R1_ENST00000351136.3_Missense_Mutation_p.L133F	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	133					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCAAGGAGACCTTCTCCACTA	0.582000													15	87					0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77229460	77229460	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:77229460G>A	ENST00000248248.3	+	5	1674	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Missense_Mutation_p.E296K|MON1B_ENST00000439557.2_Missense_Mutation_p.E333K	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	442							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CTACAGCAGAGAGGAGGAGCG	0.632000													8	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179402290	179402290	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:179402290C>T	ENST00000589042.1	-	355	99868	c.99644G>A	c.(99643-99645)cGg>cAg	p.R33215Q	TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R31574Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24342Q|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24150Q|TTN_ENST00000342992.6_Missense_Mutation_p.R30647Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24275Q|TTN-AS1_ENST00000431259.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31574							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACATGAAGCCGAAGTGTGGA	0.433000													8	35					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066925	18066925	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:18066925C>G	ENST00000506618.2	-	1	561	c.481G>C	c.(481-483)Gag>Cag	p.E161Q		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	161					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TTCTTCCACTCAGGGATATTC	0.443000													26	70					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47360050	47360050	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:47360050G>T	ENST00000400314.1	+	15	1354	c.1016G>T	c.(1015-1017)cGt>cTt	p.R339L	PCBP3_ENST00000400304.1_Missense_Mutation_p.R329L|PCBP3_ENST00000400309.1_Missense_Mutation_p.R338L|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400308.1_Missense_Mutation_p.R313L|PCBP3_ENST00000400310.1_Missense_Mutation_p.R319L|PCBP3_ENST00000449640.1_Missense_Mutation_p.R339L			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	339	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCCTCAGAGCGTCAGATCACC	0.557000													6	32					0.00116845	0.00124318	1	1	0
C10orf137	26098	broad.mit.edu	37	10	127436206	127436206	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:127436206T>C	ENST00000337623.3	+	19	2919	c.2814T>C	c.(2812-2814)ttT>ttC	p.F938F	RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|C10orf137_ENST00000356792.4_Silent_p.F972F	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	972					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTACTTACTTTACTATGGCAA	0.388000													7	58					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31597942	31597942	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:31597942C>T	ENST00000399332.1	-	25	5123	c.4635G>A	c.(4633-4635)ttG>ttA	p.L1545L	HECTD1_ENST00000553700.1_Silent_p.L1545L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1545	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAAAACTCTCCAAGCTAGATG	0.458000													9	38					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74420347	74420347	+	Splice_Site	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:74420347C>A	ENST00000263665.6	-	5	685	c.658_splice	c.e5+1	p.G220_splice		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	220					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GTTTCATTACCATCAGAACGT	0.448000													10	16					0.00829132	0.00866553	1	1	0
PDE6C	5146	broad.mit.edu	37	10	95385369	95385369	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:95385369T>C	ENST00000371447.3	+	5	1040	c.902T>C	c.(901-903)gTa>gCa	p.V301A		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	301	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.V301_E302del(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CTTGGAGAAGTAGAGCCTTAT	0.423000													9	18					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568949	5568949	+	Missense_Mutation	SNP	T	T	C	rs11546912		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:5568949T>C	ENST00000331789.5	-	3	397	c.206A>G	c.(205-207)tAc>tGc	p.Y69C		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	69					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CTCGATGGGGTACTTCAGGGT	0.587000													9	82					0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017658	109017658	+	Silent	SNP	C	C	T	rs63748999		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:109017658C>T	ENST00000388962.3	-	3	555	c.396G>A	c.(394-396)caG>caA	p.Q132Q	SELPLG_ENST00000228463.6_Silent_p.Q158Q|SELPLG_ENST00000550948.1_Silent_p.Q142Q	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	132	12 X 10 AA tandem repeats.		Missing (in short form; not an alternative splicing; dbSNP:rs63748999).		blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GTGGAGTGGTCTGTGCCTCCG	0.612000													11	51					0	0	1	0	0
DUOXA1	90527	broad.mit.edu	37	15	45412380	45412380	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:45412380G>T	ENST00000558996.1	-	5	612	c.558C>A	c.(556-558)acC>acA	p.T186T	DUOXA1_ENST00000430224.2_Silent_p.T186T|DUOXA1_ENST00000267803.4_Silent_p.T231T|DUOXA1_ENST00000558422.1_Silent_p.T186T|DUOXA1_ENST00000560572.1_Silent_p.T231T|DUOXA1_ENST00000559014.1_Silent_p.T231T	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	231					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GACAGGGTGAGGTGAGTGATG	0.562000													8	88					0.0381472	0.0390398	1	1	0
TFRC	7037	broad.mit.edu	37	3	195798336	195798336	+	Translation_Start_Site	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:195798336G>A	ENST00000535031.1	-	0	291				TFRC_ENST00000420415.1_Silent_p.N125N|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Silent_p.N206N|TFRC_ENST00000360110.4_Silent_p.N206N			P02786	TFR1_HUMAN	transferrin receptor						cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CAAGTCTACCGTTCTTATCAA	0.388000			T	BCL6	NHL								17	96					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158552753	158552753	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:158552753T>A	ENST00000251527.5	-	12	1528	c.1463A>T	c.(1462-1464)gAc>gTc	p.D488V		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	516						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CAGCACCTTGTCGAGGTTTGA	0.448000													13	36					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201485502	201485502	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:201485502T>C	ENST00000374700.2	+	17	2075	c.1834T>C	c.(1834-1836)Ttg>Ctg	p.L612L	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	612					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGAACTTTTCTTGACTTTTGT	0.453000													11	43					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115956435	115956435	+	Silent	SNP	T	T	C	rs149222255	by1000genomes	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:115956435T>C	ENST00000238256.3	-	10	996	c.879A>G	c.(877-879)agA>agG	p.R293R		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	293					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AGCCAGAATCTCTGGCAAACT	0.502000													3	20					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219691724	219691724	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:219691724T>C	ENST00000392098.3	-	9	1081	c.1049A>G	c.(1048-1050)cAg>cGg	p.Q350R	PRKAG3_ENST00000529249.1_Silent_p.T365T|PRKAG3_ENST00000545803.1_Silent_p.T181T|PRKAG3_ENST00000439262.2_Silent_p.T340T			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	0					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATGGGTGCTGTCTCCAGCA	0.597000													22	58					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811294	156811294	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:156811294A>T	ENST00000368195.3	-	21	3950	c.3554T>A	c.(3553-3555)aTt>aAt	p.I1185N	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1185	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGGTCACAATCTCCCAGAG	0.612000													10	76					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691100	18691100	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:18691100C>A	ENST00000433979.1	+	24	3327	c.3211C>A	c.(3211-3213)Cct>Act	p.P1071T	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P1112T|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P1071T	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1071	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGACCGAGCTCCTTTCATTTT	0.368000													22	35					1.10923e-09	1.36175e-09	1	1	0
OR8U1	219417	broad.mit.edu	37	11	56143785	56143785	+	Missense_Mutation	SNP	A	A	C	rs78143867		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:56143785A>C	ENST00000302270.1	+	1	686	c.686A>C	c.(685-687)cAt>cCt	p.H229P		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CTGAGGATGCATTCAGCTGAG	0.468000													25	73					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166187980	166187980	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:166187980G>A	ENST00000375437.2	+	14	2580	c.2290G>A	c.(2290-2292)Gcc>Acc	p.A764T	SCN2A_ENST00000283256.6_Missense_Mutation_p.A764T|SCN2A_ENST00000375427.2_Missense_Mutation_p.A764T|SCN2A_ENST00000357398.3_Missense_Mutation_p.A764T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	764					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGTTGACCTGGCCATCACCAT	0.428000													8	73					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6504661	6504661	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:6504661A>T	ENST00000377828.1	+	6	1279	c.1111A>T	c.(1111-1113)Agc>Tgc	p.S371C	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	371					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CTTTGACCTCAGCTCGCCTAC	0.612000													31	48					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61097030	61097030	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:61097030G>A	ENST00000301764.7	-	4	751	c.354C>T	c.(352-354)acC>acT	p.T118T	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	118	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CAATAATGCCGGTCTCTGAGG	0.507000								Nucleotide excision repair (NER)					6	18					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319230	31319230	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:31319230C>G	ENST00000269197.5	+	11	1862	c.1862C>G	c.(1861-1863)gCc>gGc	p.A621G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	621	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCAGAGGGAGCCTGTACCAGC	0.478000													14	12					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183209770	183209770	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:183209770A>T	ENST00000341319.3	-	7	1846	c.1811T>A	c.(1810-1812)aTc>aAc	p.I604N		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	604										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGACTTCCTGATGGTGACGCT	0.667000													8	76					0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129945	6129945	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:6129945C>A	ENST00000316529.3	+	1	1032	c.937C>A	c.(937-939)Ctg>Atg	p.L313M	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCTTGGACTGGGTCAGGA	0.483000													16	84					0.0332995	0.0341378	1	1	0
TPM2	7169	broad.mit.edu	37	9	35682149	35682149	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:35682149T>C	ENST00000378292.3	-	9	1986	c.784A>G	c.(784-786)Agt>Ggt	p.S262G	TPM2_ENST00000378300.5_3'UTR|TPM2_ENST00000329305.2_Missense_Mutation_p.S262G	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	262					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTTGGCACTGGCCAAGGTC	0.607000													13	25					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130409378	130409378	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:130409378A>G	ENST00000356763.3	-	14	3776	c.3219T>C	c.(3217-3219)gcT>gcC	p.A1073A	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1073					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GCAGCTTAGAAGCCTCAATTC	0.423000													4	50					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55185898	55185898	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:55185898C>T	ENST00000396834.1	+	8	1146	c.650C>T	c.(649-651)gCg>gTg	p.A217V	IL31RA_ENST00000354961.4_Missense_Mutation_p.A217V|IL31RA_ENST00000297015.3_Missense_Mutation_p.A94V|IL31RA_ENST00000396836.2_Missense_Mutation_p.A236V|IL31RA_ENST00000447346.2_Missense_Mutation_p.A236V|IL31RA_ENST00000359040.5_Missense_Mutation_p.A236V|IL31RA_ENST00000490985.1_Missense_Mutation_p.A94V	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	204	Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CTGCGATGTGCGGTCAAGGAG	0.483000													4	34					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45001014	45001014	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:45001014G>A	ENST00000429094.2	-	15	2105	c.1601C>T	c.(1600-1602)gCc>gTc	p.A534V	NELL2_ENST00000437801.2_Missense_Mutation_p.A584V|NELL2_ENST00000395487.2_Missense_Mutation_p.A533V|NELL2_ENST00000452445.2_Missense_Mutation_p.A534V|NELL2_ENST00000551601.1_Missense_Mutation_p.A533V|NELL2_ENST00000549027.1_Missense_Mutation_p.A533V|NELL2_ENST00000333837.4_Missense_Mutation_p.A557V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	534	EGF-like 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GGCAATACAGGCTCCTCCATT	0.383000													10	29					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995924	144995924	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:144995924G>A	ENST00000322810.4	-	32	8645	c.8476C>T	c.(8476-8478)Cgc>Tgc	p.R2826C	PLEC_ENST00000354958.2_Missense_Mutation_p.R2667C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2693C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2712C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2657C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2689C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2689C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2716C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2675C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2826	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGTAGTGGCGCACGTCTTCC	0.662000													6	39					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21588564	21588564	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:21588564T>C	ENST00000392288.2	+	3	268	c.157_splice	c.e3-1	p.G53_splice	ZNF493_ENST00000596302.1_Silent_p.G54G|ZNF493_ENST00000594390.1_Splice_Site_p.G53_splice|ZNF493_ENST00000355504.4_Intron|ZNF493_ENST00000339914.6_Silent_p.G54G|CTD-2561J22.3_ENST00000600810.1_Silent_p.G34G	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAAGCAGGTATTGCTGTCT	0.393000													17	67					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085701	92085701	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:92085701G>T	ENST00000298047.6	+	1	440	c.423G>T	c.(421-423)tgG>tgT	p.W141C	FAT3_ENST00000409404.2_Missense_Mutation_p.W141C|FAT3_ENST00000541502.1_Missense_Mutation_p.W141C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	141	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAAGCATGGACCAAAGTGA	0.373000										TCGA Ovarian(4;0.039)			14	42					0.00185496	0.00196829	1	1	0
SLC19A1	6573	broad.mit.edu	37	21	46951306	46951306	+	Missense_Mutation	SNP	G	G	C	rs56138890		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:46951306G>C	ENST00000311124.4	-	3	1098	c.946C>G	c.(946-948)Ctg>Gtg	p.L316V	SLC19A1_ENST00000567670.1_Missense_Mutation_p.L316V|SLC19A1_ENST00000485649.2_Missense_Mutation_p.L276V|SLC19A1_ENST00000380010.4_Missense_Mutation_p.L316V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	316					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		TGCGTACCCAGCAGCGTGGAG	0.677000													4	40					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152818579	152818579	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:152818579C>T	ENST00000370186.1	+	11	2194	c.1868C>T	c.(1867-1869)cCg>cTg	p.P623L	ATP2B3_ENST00000370181.2_Missense_Mutation_p.P623L|ATP2B3_ENST00000263519.4_Missense_Mutation_p.P637L|ATP2B3_ENST00000359149.3_Missense_Mutation_p.P637L|ATP2B3_ENST00000349466.2_Missense_Mutation_p.P637L|ATP2B3_ENST00000393842.1_Missense_Mutation_p.P623L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	637					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCATCGAGCCGATGGCTTGC	0.622000													10	27					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99368211	99368211	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:99368211A>G	ENST00000376503.5	-	9	699	c.644T>C	c.(643-645)gTg>gCg	p.V215A		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	215					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AAGGACAAACACAACTAGATA	0.468000													12	24					0	0	1	0	0
NTMT1	28989	broad.mit.edu	37	9	132396449	132396449	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:132396449G>A	ENST00000372486.1	+	3	628	c.279G>A	c.(277-279)acG>acA	p.T93T	NTMT1_ENST00000372481.3_Silent_p.T93T|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000482347.1_Silent_p.T5T|NTMT1_ENST00000372480.1_Silent_p.T93T|NTMT1_ENST00000372483.4_Silent_p.T93T					N-terminal Xaa-Pro-Lys N-methyltransferase 1																		TCGACATAACGGAGGACTTCC	0.602000													10	69					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651162	96651162	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:96651162C>T	ENST00000302103.5	+	3	457	c.131C>T	c.(130-132)gCc>gTc	p.A44V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	44					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATGGAATCAGCCAGCTCTGTG	0.403000													6	58					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21736785	21736785	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:21736785T>C	ENST00000399481.2	+	2	1178	c.1026T>C	c.(1024-1026)tcT>tcC	p.S342S	CABYR_ENST00000399496.3_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000581397.1_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	440					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					GGGAAAACTCTGTACCCCAGG	0.498000													5	53					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111721234	111721234	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:111721234A>C	ENST00000389811.4	+	13	1317	c.1093A>C	c.(1093-1095)Aag>Cag	p.K365Q	ACOXL_ENST00000439055.1_Intron			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	365					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CTCAGGCTTAAAGTGTGACAC	0.398000													12	78					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120176403	120176403	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:120176403G>T	ENST00000260264.4	+	8	718	c.684G>T	c.(682-684)caG>caT	p.Q228H	POU2F3_ENST00000543440.2_Missense_Mutation_p.Q226H	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	226	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		ACTTCAGCCAGACCACCATCT	0.577000													18	76					9.16793e-09	1.10936e-08	1	1	0
CCT4	10575	broad.mit.edu	37	2	62112169	62112169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:62112169C>A	ENST00000394440.3	-	2	462	c.166G>T	c.(166-168)Gga>Tga	p.G56*	CCT4_ENST00000538252.1_De_novo_Start_OutOfFrame|CCT4_ENST00000544185.1_De_novo_Start_InFrame|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Nonsense_Mutation_p.G56*	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	56					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TTATCCATTCCTTTTGGTCCA	0.373000													4	41					0.00909568	0.00942281	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113678554	113678554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:113678554C>T	ENST00000297405.5	-	17	3012	c.2768G>A	c.(2767-2769)tGg>tAg	p.W923*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W923*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W819*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W883*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	923	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCAATCACCCACTCACAATT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	17					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3084680	3084680	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:3084680A>G	ENST00000397461.1	+	21	2915	c.2531A>G	c.(2530-2532)gAa>gGa	p.E844G	CNTN4_ENST00000358480.3_Missense_Mutation_p.E625G|CNTN4_ENST00000397459.2_Missense_Mutation_p.E516G|CNTN4_ENST00000427331.1_Missense_Mutation_p.E844G|CNTN4_ENST00000418658.1_Missense_Mutation_p.E844G|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.E516G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	844	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGGAGACATGAAGACAAAGAA	0.363000													3	17					0	0	1	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145465023	145465023	+	Splice_Site	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:145465023C>T	ENST00000311450.4	-	3	451		c.e3+1			NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1											autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACACACTTACCTGTATTTTA	0.453000													7	15					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20912903	20912903	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:20912903A>G	ENST00000380249.1	+	25	3121	c.2757A>G	c.(2755-2757)ggA>ggG	p.G919G	FOCAD_ENST00000338382.6_Silent_p.G919G|FOCAD_ENST00000605086.1_Silent_p.G355G	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	919						integral to membrane	binding										TAAAACATGGAAAAGAAGAAC	0.428000													17	15					0	0	1	0	0
MSX1	4487	broad.mit.edu	37	4	4864671	4864671	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:4864671T>C	ENST00000382723.4	+	2	947	c.713T>C	c.(712-714)cTg>cCg	p.L238P	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	232					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGGAGAAGCTGAAGATGGCC	0.652000													5	21					0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99261962	99261962	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:99261962A>G	ENST00000393487.1	-	9	1131	c.818T>C	c.(817-819)aTa>aCa	p.I273T	MGAT4A_ENST00000414521.2_Missense_Mutation_p.I145T|MGAT4A_ENST00000264968.2_Missense_Mutation_p.I273T|MGAT4A_ENST00000409391.1_Missense_Mutation_p.I273T	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	273					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.I273T(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AAAATTTTTTATGGTATTAAA	0.299000													5	49					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46921473	46921473	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:46921473C>A	ENST00000378623.1	-	4	613	c.371G>T	c.(370-372)cGg>cTg	p.R124L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	124	LDL-receptor class A 3.				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)		CCACAGACTCCGGATGCAGTA	0.632000													28	45					3.73148e-12	4.71323e-12	1	1	0
CLCA4	22802	broad.mit.edu	37	1	87045266	87045266	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:87045266A>G	ENST00000370563.3	+	13	2394	c.2352A>G	c.(2350-2352)ggA>ggG	p.G784G	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	784						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTGATGTTGGAAAAGGTAAGG	0.403000													19	59					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31016032	31016032	+	Silent	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:31016032T>G	ENST00000375687.4	+	5	778	c.354T>G	c.(352-354)acT>acG	p.T118T	ASXL1_ENST00000542461.1_3'UTR|ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000306058.5_Silent_p.T113T	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	118					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AAGCCAGCACTGTGAGTGGTG	0.537000			"""F, N, Mis"""		"""MDS, CMML"""								4	65					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034413	58034413	+	Nonstop_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:58034413C>A	ENST00000395079.2	-	1	1319	c.918G>T	c.(916-918)taG>taT	p.*306Y		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CTCGTCTTTCCTAGCTGTTCT	0.473000													15	64					1.52009e-12	1.92828e-12	1	1	0
USP2	9099	broad.mit.edu	37	11	119243829	119243829	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:119243829C>T	ENST00000260187.2	-	2	656	c.362G>A	c.(361-363)tGc>tAc	p.C121Y	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	121	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GTAGCTGAGGCAGTTGTTGGT	0.622000													8	123					0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765970	171765970	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:171765970C>A	ENST00000311601.5	-	13	2309	c.2139G>T	c.(2137-2139)acG>acT	p.T713T	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	713					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTGTTTGCCCGTCCTGTCCT	0.637000													13	25					2.68362e-12	3.39695e-12	1	1	0
VWF	7450	broad.mit.edu	37	12	6145658	6145658	+	Splice_Site	SNP	C	C	A	rs61748480		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:6145658C>A	ENST00000261405.5	-	19	2697		c.e19-1			NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CATGCCGGACCTAAGAGAAAA	0.537000													7	29					8.12818e-05	8.88832e-05	1	1	0
RIPK3	11035	broad.mit.edu	37	14	24807128	24807128	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:24807128T>C	ENST00000216274.5	-	6	1001	c.783A>G	c.(781-783)ctA>ctG	p.L261L		NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	261	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		AGAGCTGCATTAGCTCCTTCA	0.587000													4	50					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220505321	220505321	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:220505321G>T	ENST00000358055.3	+	21	3959	c.3447_splice	c.e21+1	p.K1149_splice	SLC4A3_ENST00000273063.6_Splice_Site_p.K1176_splice|SLC4A3_ENST00000373762.3_Splice_Site_p.K1176_splice|SLC4A3_ENST00000373760.2_Splice_Site_p.K1149_splice|SLC4A3_ENST00000317151.3_Splice_Site_p.K1149_splice			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1149	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGTGACCAAGGTAGGGCCGG	0.577000													4	65					0.150653	0.15181	1	1	0
HTR6	3362	broad.mit.edu	37	1	19992715	19992715	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:19992715G>A	ENST00000289753.1	+	1	936	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	157					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	p.A157T(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CGCCGCTCTCGCCTCCTTCCT	0.716000													6	30					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228548090	228548090	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:228548090G>T	ENST00000284548.11	+	81	19571	c.19497G>T	c.(19495-19497)gtG>gtT	p.V6499V	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.V3618V			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Protein kinase 1.				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)				AGGTCTCGGTGATCCAGAGAG	0.672000													5	53					3.59834e-05	3.97534e-05	1	1	0
CPS1	1373	broad.mit.edu	37	2	211457612	211457612	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:211457612C>T	ENST00000233072.5	+	11	1292	c.1096C>T	c.(1096-1098)Cat>Tat	p.H366Y	CPS1_ENST00000430249.2_Missense_Mutation_p.H372Y	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	366	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGGGATTATGCATGAGAGCAA	0.428000													12	59					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039043	31039043	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:31039043G>T	ENST00000355537.3	+	4	2664	c.2517G>T	c.(2515-2517)agG>agT	p.R839S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R839S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACATCCTGAGGGGGGCCTTCA	0.582000													20	70					1.01871e-10	1.26376e-10	1	1	0
NCKAP1	10787	broad.mit.edu	37	2	183848087	183848087	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:183848087C>T	ENST00000360982.2	-	12	1804	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	NCKAP1_ENST00000361354.3_Missense_Mutation_p.R343H	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	343					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	p.R349L(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TAAAAACTTGCGTCTTTCTCT	0.343000													12	62					0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170641086	170641086	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:170641086G>A	ENST00000513761.1	+	13	2954	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N	CLCN3_ENST00000347613.4_Missense_Mutation_p.R824K|CLCN3_ENST00000360642.3_Missense_Mutation_p.D772N|CLCN3_ENST00000504131.2_Missense_Mutation_p.D782N	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	799	CBS 2.				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AACAAAAAAAGATATCCTCCG	0.408000													10	22					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196661411	196661411	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:196661411C>T	ENST00000312428.6	-	56	10504	c.10404G>A	c.(10402-10404)ggG>ggA	p.G3468G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3468	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						TAGCAATGGGCCCTTGGCCTT	0.408000													5	36					0	0	1	0	0
FANCF	2188	broad.mit.edu	37	11	22647210	22647210	+	Silent	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:22647210A>C	ENST00000327470.3	-	1	177	c.147T>G	c.(145-147)ggT>ggG	p.G49G	AC103801.2_ENST00000428556.2_3'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	49					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GGCCATGCCGACCAAAGCGCC	0.677000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	34					0	0	1	0	0
ZNF625	90589	broad.mit.edu	37	19	12256740	12256740	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:12256740T>A	ENST00000355738.1	-	4	642	c.293A>T	c.(292-294)gAt>gTt	p.D98V	ZNF625_ENST00000439556.2_Missense_Mutation_p.D164V|ZNF625_ENST00000542938.1_Missense_Mutation_p.D98V|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TTCCTCACAATCATAAGGTTT	0.433000													23	80					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	402340	402340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:402340C>T	ENST00000540204.1	-	8	1197	c.974G>A	c.(973-975)tGg>tAg	p.W325*	DIP2C_ENST00000280886.6_Intron|DIP2C_ENST00000381496.3_3'UTR			Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	0						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGCCAGTAGCCAGGGAAGGCC	0.547000													10	42					0	0	1	0	0
COMT	1312	broad.mit.edu	37	22	19950324	19950324	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:19950324T>G	ENST00000361682.6	+	3	657	c.275T>G	c.(274-276)gTg>gGg	p.V92G	COMT_ENST00000406520.3_Missense_Mutation_p.V92G|COMT_ENST00000403710.1_Missense_Mutation_p.V92G|COMT_ENST00000403184.1_Missense_Mutation_p.V92G|COMT_ENST00000449653.1_Missense_Mutation_p.V42G|COMT_ENST00000407537.1_Missense_Mutation_p.V42G	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	92					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	GCCATGAACGTGGGCGACAAG	0.612000													6	20					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842180	8842180	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:8842180G>A	ENST00000324060.2	+	1	865	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A264T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGTGCCTTGCGCCTACCACAG	0.552000													29	73					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78842447	78842447	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:78842447C>T	ENST00000545128.1	+	21	3193	c.2655C>T	c.(2653-2655)tgC>tgT	p.C885C		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	887	PLAC.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATGGCCACTGCCAGACCTGTG	0.527000													3	16					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890769	197890769	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:197890769A>G	ENST00000367390.3	+	4	713	c.686A>G	c.(685-687)gAc>gGc	p.D229G	LHX9_ENST00000337020.2_Missense_Mutation_p.D238G|LHX9_ENST00000367387.4_Missense_Mutation_p.D238G|LHX9_ENST00000367391.1_Missense_Mutation_p.D229G|LHX9_ENST00000561173.1_Missense_Mutation_p.D244G	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	238					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CTGGGAGTGGACATCGTCAAT	0.647000													4	21					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585510	82585510	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:82585510T>A	ENST00000423517.2	-	5	5096	c.4759A>T	c.(4759-4761)Agc>Tgc	p.S1587C	PCLO_ENST00000333891.8_Missense_Mutation_p.S1587C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1518					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAGTACTGCTACTAATCTCT	0.408000													27	109					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134504533	134504533	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:134504533C>T	ENST00000372195.1	-	7	1092	c.849G>A	c.(847-849)gcG>gcA	p.A283A	RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372189.3_Silent_p.A266A|RAPGEF1_ENST00000372190.3_Silent_p.A284A			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	266					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCTTGGGGGGCGCGACCTCTT	0.542000													11	54					0	0	1	0	0
LYRM7	90624	broad.mit.edu	37	5	130535268	130535268	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:130535268T>G	ENST00000379380.4	+	5	500	c.289T>G	c.(289-291)Tgt>Ggt	p.C97G	LYRM7_ENST00000510516.1_Missense_Mutation_p.C46G|LYRM7_ENST00000507584.1_3'UTR	NM_181705.2	NP_859056.2	Q5U5X0	LYRM7_HUMAN	LYR motif containing 7	97										upper_aerodigestive_tract(1)	1		all_cancers(142;0.0377)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGCCATATTGTGATGCACC	0.318000													6	33					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076615	87076615	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:87076615T>C	ENST00000276616.2	-	2	505	c.431A>G	c.(430-432)gAg>gGg	p.E144G	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	144	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			ATCAAAGAGCTCCCCTCCGGT	0.522000													14	49					0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50100073	50100073	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:50100073C>T	ENST00000298292.8	-	1	1875	c.1795G>A	c.(1795-1797)Gca>Aca	p.A599T	DNAAF2_ENST00000406043.3_Missense_Mutation_p.A599T	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	599					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						GGAGATTTTGCCAGTTCTATC	0.383000													12	41					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14749341	14749341	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:14749341A>G	ENST00000284268.6	-	6	1092	c.762T>C	c.(760-762)agT>agC	p.S254S	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Silent_p.S56S	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	254					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAATAGGCCGACTGATTCTCT	0.493000													5	70					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64582668	64582668	+	Splice_Site	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:64582668C>T	ENST00000498707.1	-	27	4360		c.e27-1		ADAMTS9_ENST00000295903.4_Splice_Site	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9						glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TACTGGAACACTAAACACATC	0.463000													15	31					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52957649	52957649	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:52957649A>T	ENST00000281741.4	-	10	1202	c.831T>A	c.(829-831)gtT>gtA	p.V277V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	277					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CCTGTTGGCTAACAATAAAAA	0.388000													7	68					0	0	1	0	0
SIAH2	6478	broad.mit.edu	37	3	150460419	150460419	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:150460419C>G	ENST00000312960.3	-	2	1011	c.484G>C	c.(484-486)Gaa>Caa	p.E162Q		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	162	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGACGGTATTCACATATGTCT	0.542000													14	37					0	0	1	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253380	32253380	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:32253380C>T	ENST00000332378.4	-	1	494	c.464G>A	c.(463-465)tGc>tAc	p.C155Y		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	155						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GCTGGACACGCAGGACTGCTG	0.582000													16	58					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494830	55494830	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:55494830C>T	ENST00000543010.1	+	6	1907	c.1764C>T	c.(1762-1764)tgC>tgT	p.C588C	NLRP2_ENST00000263437.6_Silent_p.C585C|NLRP2_ENST00000538819.1_Silent_p.C564C|NLRP2_ENST00000339757.7_Silent_p.C566C|NLRP2_ENST00000427260.2_Silent_p.C565C|NLRP2_ENST00000391721.4_Silent_p.C564C|NLRP2_ENST00000448584.2_Silent_p.C588C|NLRP2_ENST00000537859.1_Silent_p.C566C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	588					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGCTGCGATGCGACATAAGTT	0.547000													10	35					0	0	1	0	0
AAR2	25980	broad.mit.edu	37	20	34828453	34828453	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:34828453G>A	ENST00000373932.3	+	2	1009	c.663G>A	c.(661-663)acG>acA	p.T221T	AAR2_ENST00000320849.4_Silent_p.T221T|AAR2_ENST00000397286.3_Silent_p.T221T	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		AGGGTGCCACGCCAGCTGAGA	0.607000													13	50					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158584046	158584046	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:158584046T>C	ENST00000368148.3	-	49	7019	c.6839A>G	c.(6838-6840)tAt>tGt	p.Y2280C	SPTA1_ENST00000368147.3_Missense_Mutation_p.Y2277C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2280	EF-hand 1.				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)					TACTCACTTATAGATTGTGCT	0.333000													7	55					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58965577	58965577	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:58965577T>C	ENST00000423743.3	+	28	4193	c.3935T>C	c.(3934-3936)aTg>aCg	p.M1312T	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.M1409T|KIAA0586_ENST00000261244.5_Missense_Mutation_p.M1280T|KIAA0586_ENST00000556134.1_Missense_Mutation_p.M1341T	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1280										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACATCTTAATGGGACATTCT	0.413000													5	9					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824469	74824469	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:74824469G>A	ENST00000256362.4	+	2	1224	c.983G>A	c.(982-984)gGc>gAc	p.G328D		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	328					transposition, DNA-mediated		DNA binding|transposase activity	p.V329fs*25(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CACCGGGGGGGCGTCGTGCCA	0.657000													12	41					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220435105	220435105	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:220435105G>T	ENST00000404537.1	-	1	906	c.850C>A	c.(850-852)Cgc>Agc	p.R284S	OBSL1_ENST00000373873.4_Missense_Mutation_p.R284S|OBSL1_ENST00000373876.1_Missense_Mutation_p.R284S|OBSL1_ENST00000265318.4_Missense_Mutation_p.R284S|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000603926.1_Missense_Mutation_p.R284S	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	284	Ig-like 3.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGCAGCGGGCGGCCCTCCCAG	0.667000													10	24					7.48243e-07	8.69759e-07	1	1	0
POLR2J4	84820	broad.mit.edu	37	7	44005532	44005532	+	RNA	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:44005532A>G	ENST00000427076.1	-	0	1360					NR_003655.2																						CTGCTGCGCCACCCGCAGTCT	0.607000													7	15					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181727990	181727990	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:181727990G>A	ENST00000526775.1	+	31	4699	c.4534G>A	c.(4534-4536)Gct>Act	p.A1512T	CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1463T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1482T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1512T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A1138T|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A1531T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1531T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1531					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGTCATCGCTTTTGGCTT	0.493000													4	66					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391564	58391564	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:58391564G>T	ENST00000361987.4	+	2	252	c.172G>T	c.(172-174)Gtg>Ttg	p.V58L	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	58					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGGGATGCCAGTGGCAAGCAC	0.527000													12	44					2.80697e-09	3.42817e-09	1	1	0
KCNQ3	3786	broad.mit.edu	37	8	133192474	133192474	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:133192474C>T	ENST00000388996.4	-	4	1127	c.707G>A	c.(706-708)cGc>cAc	p.R236H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R236H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R116H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	236					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R236H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCGCAGCATGCGCAGGATCTG	0.582000													23	42					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	891922	891922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:891922G>A	ENST00000314167.4	-	6	660	c.550C>T	c.(550-552)Caa>Taa	p.Q184*	GAK_ENST00000511163.1_Nonsense_Mutation_p.Q105*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	184	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ATGGTCCCTTGGTTACTAAGC	0.537000													9	37					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769082	15769082	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:15769082T>C	ENST00000221307.7	+	10	1172	c.1124T>C	c.(1123-1125)cTg>cCg	p.L375P	CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Missense_Mutation_p.L375P|CYP4F3_ENST00000591058.1_Missense_Mutation_p.L375P|CYP4F3_ENST00000585846.1_Missense_Mutation_p.L375P	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	375					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGGGACGACCTGGCCCAGCTG	0.562000													20	82					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43343939	43343939	+	RNA	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:43343939C>A	ENST00000344686.2	-	0	2648				MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGGCCGCCCCCGGGCCAGCAC	0.632000													14	87					1.49906e-05	1.67809e-05	1	1	0
CLUH	23277	broad.mit.edu	37	17	2601632	2601632	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:2601632T>C	ENST00000570628.1	-	10	1510	c.1405A>G	c.(1405-1407)Acg>Gcg	p.T469A	CLUH_ENST00000435359.1_Missense_Mutation_p.T469A|CLUH_ENST00000538975.1_Missense_Mutation_p.T469A|CLUH_ENST00000575014.1_Missense_Mutation_p.T401A					clustered mitochondria (cluA/CLU1) homolog																		GTGCCCAGCGTGTACAGCCCC	0.667000													6	6					0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67815252	67815252	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:67815252G>A	ENST00000265686.3	+	12	1552	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	TCIRG1_ENST00000532635.1_Missense_Mutation_p.A266T	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	482					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGCCGCCATGGCCAACCAGTC	0.682000													15	95					0	0	1	0	0
LYPD1	116372	broad.mit.edu	37	2	133403780	133403780	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:133403780G>A	ENST00000397463.2	-	3	536	c.264C>T	c.(262-264)tgC>tgT	p.C88C	GPR39_ENST00000470071.1_3'UTR|GPR39_ENST00000329321.3_3'UTR|LYPD1_ENST00000345008.6_Silent_p.C36C	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	88	UPAR/Ly6.					anchored to membrane|plasma membrane				lung(2)	2						TCCCTGGGGAGCAGAAGGACT	0.567000													7	39					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77847731	77847731	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:77847731A>G	ENST00000407578.2	-	5	1087	c.821T>C	c.(820-822)tTa>tCa	p.L274S	MYCBP2_ENST00000544440.2_Missense_Mutation_p.L236S|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L236S|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AAGTGCTGTTAAGGACTGTCC	0.448000													21	52					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76470886	76470886	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:76470886A>T	ENST00000396423.2	+	7	961	c.837A>T	c.(835-837)gcA>gcT	p.A279A	HNF4G_ENST00000354370.1_Silent_p.A242A	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	242					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTTTAAAGGCAATTGTATTTT	0.318000													27	194					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33875106	33875106	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:33875106C>A	ENST00000374408.3	-	4	1572	c.1476G>T	c.(1474-1476)gtG>gtT	p.V492V		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	492										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCTTCTCCTCCACTGTCTCCA	0.632000													4	57					0.00909568	0.00942281	1	1	0
USP32	84669	broad.mit.edu	37	17	58343443	58343443	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:58343443T>A	ENST00000300896.4	-	8	1015	c.821A>T	c.(820-822)aAg>aTg	p.K274M	USP32_ENST00000393003.3_Missense_Mutation_p.K274M	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	274	EF-hand 3.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATCAAATACCTTGAAGCAAAC	0.368000													14	63					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65988100	65988100	+	Splice_Site	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:65988100A>T	ENST00000320580.4	+	9	1071		c.e9-1			NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1						interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TTTTCCCTGCAGGTGGGCTTT	0.502000													23	25					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062971	9062971	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9062971T>C	ENST00000397910.4	-	3	24678	c.24475A>G	c.(24475-24477)Acc>Gcc	p.T8159A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8161	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						CTAGAGGAGGTGACTTCTGTC	0.542000													19	82					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98543387	98543387	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:98543387C>T	ENST00000359863.4	+	32	4700	c.4491C>T	c.(4489-4491)tgC>tgT	p.C1497C	TRRAP_ENST00000446306.3_Intron|TRRAP_ENST00000355540.3_Intron	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1497					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTTCCGAGTGCGGGAGATGTC	0.383000													12	55					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42271134	42271134	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:42271134T>G	ENST00000373030.3	+	13	1266	c.1136T>G	c.(1135-1137)cTg>cGg	p.L379R	IFT52_ENST00000373039.4_Missense_Mutation_p.L379R|IFT52_ENST00000471199.1_3'UTR	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	379						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAAGAAGACCTGGAATTTTAT	0.413000													9	65					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23096295	23096295	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:23096295A>G	ENST00000219689.7	-	11	1715	c.1716T>C	c.(1714-1716)acT>acC	p.T572T		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	572					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ACTCATCCTCAGTATTTACAA	0.408000													38	147					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79180632	79180632	+	Missense_Mutation	SNP	G	G	A	rs146148645	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:79180632G>A	ENST00000269392.4	-	5	674	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	AZI1_ENST00000450824.2_Missense_Mutation_p.R143W|AZI1_ENST00000575907.1_Missense_Mutation_p.R143W|AZI1_ENST00000374782.3_Missense_Mutation_p.R143W	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	143					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTGGAACTCCGGGCATTGGAT	0.632000													11	45					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	769461	769461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:769461C>T	ENST00000297440.6	+	2	777	c.757C>T	c.(757-759)Cga>Tga	p.R253*	HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Nonsense_Mutation_p.R253*	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	253							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TTTTGCTCAGCGACTGTTTGA	0.547000													7	41					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153655008	153655008	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:153655008C>T	ENST00000368680.3	+	5	1678	c.1206C>T	c.(1204-1206)ggC>ggT	p.G402G		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	402					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ATAGCAGTGGCGATCGGGAAA	0.488000													8	50					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142237972	142237972	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:142237972A>T	ENST00000389484.3	-	3	1307	c.336T>A	c.(334-336)caT>caA	p.H112Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	112	LDL-receptor class A 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACCCTGACAATGTACTCCTT	0.388000										TSP Lung(27;0.18)			4	42					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834534	125834534	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:125834534G>T	ENST00000299308.3	+	2	597	c.589G>T	c.(589-591)Ggc>Tgc	p.G197C		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	197						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTTCAGCTCAGGCCTGGACCT	0.652000													16	40					4.7546e-09	5.78289e-09	1	1	0
NPFFR2	10886	broad.mit.edu	37	4	72897682	72897682	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:72897682G>T	ENST00000308744.6	+	1	162	c.64G>T	c.(64-66)Gca>Tca	p.A22S	NPFFR2_ENST00000344413.5_Missense_Mutation_p.A22S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	22					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CGTCTCATCTGCACCGGACAA	0.637000													9	26					1.12685e-05	1.26986e-05	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140919614	140919614	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:140919614G>T	ENST00000277549.5	+	20	3421	c.852G>T	c.(850-852)acG>acT	p.T284T	CACNA1B_ENST00000371367.5_Silent_p.T76T|CACNA1B_ENST00000371372.1_Silent_p.T1092T|CACNA1B_ENST00000545473.1_Silent_p.T76T|CACNA1B_ENST00000277551.2_Silent_p.T1092T|CACNA1B_ENST00000371355.4_Silent_p.T1093T|CACNA1B_ENST00000371357.1_Silent_p.T1093T|CACNA1B_ENST00000371363.1_Silent_p.T1092T			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1092					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGGAAGCCACGGTCGTTCCCA	0.612000													4	6					0.150653	0.15181	1	1	0
CELF2	10659	broad.mit.edu	37	10	11367850	11367850	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:11367850A>G	ENST00000379261.4	+	12	1399	c.1307A>G	c.(1306-1308)gAc>gGc	p.D436G	CELF2_ENST00000537122.1_Missense_Mutation_p.D331G|CELF2_ENST00000354440.2_Missense_Mutation_p.D418G|CELF2_ENST00000315874.3_Missense_Mutation_p.D418G|CELF2_ENST00000354897.3_Missense_Mutation_p.D430G|CELF2_ENST00000542579.1_Missense_Mutation_p.D449G|CELF2_ENST00000450189.1_Missense_Mutation_p.D449G|CELF2_ENST00000399850.3_Missense_Mutation_p.D418G|CELF2_ENST00000427450.1_Missense_Mutation_p.D418G|CELF2_ENST00000416382.2_Missense_Mutation_p.D436G|CELF2_ENST00000417956.2_Missense_Mutation_p.D416G	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	436	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GAATTTGGAGACCAGGACATT	0.418000													12	70					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1424651	1424651	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:1424651G>T	ENST00000446702.2	+	18	2819	c.2192G>T	c.(2191-2193)gGg>gTg	p.G731V	CNTN6_ENST00000350110.2_Missense_Mutation_p.G731V|CNTN6_ENST00000539053.1_Missense_Mutation_p.G659V			Q9UQ52	CNTN6_HUMAN	contactin 6	731	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTGCAGAATGGGGAGGGATTT	0.393000													13	41					1.36491e-13	1.75023e-13	1	1	0
DMRT3	58524	broad.mit.edu	37	9	990347	990347	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:990347T>A	ENST00000190165.2	+	2	799	c.761T>A	c.(760-762)gTg>gAg	p.V254E		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	254					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.V254E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCGCTTGAAGTGTTAAAAAAG	0.572000													40	36					0	0	1	0	0
SMCO3	440087	broad.mit.edu	37	12	14959395	14959395	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:14959395T>C	ENST00000316048.2	-	2	292	c.220A>G	c.(220-222)Atg>Gtg	p.M74V	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		TGGATTTTCATAATGGCTTGG	0.408000													6	112					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147635025	147635025	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:147635025C>A	ENST00000367481.3	+	12	1259	c.1151C>A	c.(1150-1152)cCt>cAt	p.P384H	STXBP5_ENST00000321680.6_Missense_Mutation_p.P384H|STXBP5_ENST00000367480.3_Missense_Mutation_p.P384H|STXBP5_ENST00000179882.6_Missense_Mutation_p.P55H	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	384					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TAAAGATATCCTATATTTGAA	0.279000													14	42					1.52009e-12	1.92828e-12	1	1	0
OR2G3	81469	broad.mit.edu	37	1	247768980	247768980	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:247768980C>G	ENST00000320002.2	+	1	125	c.93C>G	c.(91-93)gtC>gtG	p.V31V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTGTATTTGTCCTTTTCTTCT	0.463000													10	225					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51617225	51617225	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:51617225G>A	ENST00000522124.1	+	16	1765	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	SNTG1_ENST00000517473.1_Silent_p.L368L|SNTG1_ENST00000276467.5_Silent_p.L368L|SNTG1_ENST00000518864.1_Silent_p.L368L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	368	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GGGAGGACCTGTACTTCTCAG	0.547000													22	30					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154832920	154832920	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:154832920G>T	ENST00000460393.1	+	4	454	c.334G>T	c.(334-336)Gat>Tat	p.D112Y	MME_ENST00000492661.1_Missense_Mutation_p.D112Y|MME_ENST00000493237.1_Missense_Mutation_p.D112Y|MME_ENST00000477669.1_3'UTR|MME_ENST00000462745.1_Missense_Mutation_p.D112Y|MME_ENST00000360490.2_Missense_Mutation_p.D112Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	112					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CATTTTAAGAGATGAACTAGA	0.378000													15	58					4.93089e-13	6.29555e-13	1	1	0
SETD1A	9739	broad.mit.edu	37	16	30976134	30976134	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:30976134T>C	ENST00000262519.8	+	7	1757	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	357	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						cctcgtcctcTCAGTTTCGTA	0.592000													37	109					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54649361	54649361	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:54649361C>T	ENST00000406403.1	+	7	2114	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R171W			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	171					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGCTTGAAGCGGCACATCGA	0.622000													7	15					0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483643	12483643	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:12483643T>G	ENST00000535902.1	-	4	1177	c.614A>C	c.(613-615)cAg>cCg	p.Q205P	MANSC1_ENST00000545735.1_Missense_Mutation_p.Q124P|MANSC1_ENST00000396349.3_Missense_Mutation_p.Q171P			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	205						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTGTGAACTCTGAGAATGGCC	0.453000													4	46					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2908736	2908736	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:2908736T>C	ENST00000254695.8	+	15	1362		c.e15+2		RAP1GAP2_ENST00000540393.2_Splice_Site|RAP1GAP2_ENST00000366401.4_Splice_Site|RAP1GAP2_ENST00000542807.1_Splice_Site	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2						regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TTCCAGAAGGTAGGACACTCT	0.552000													5	71					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45372173	45372173	+	Splice_Site	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:45372173T>A	ENST00000402690.2	-	9	1392		c.e9-2		SMAD2_ENST00000591214.1_Splice_Site|SMAD2_ENST00000262160.6_Splice_Site|SMAD2_ENST00000356825.4_Splice_Site|SMAD2_ENST00000586040.1_Splice_Site	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2						anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CTCCTCTTCCTGAAACAAAAT	0.348000													18	20					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15212305	15212305	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:15212305G>A	ENST00000379554.3	+	6	825	c.779G>A	c.(778-780)gGg>gAg	p.G260E	INSC_ENST00000379556.3_Missense_Mutation_p.G213E|INSC_ENST00000525218.1_Missense_Mutation_p.G213E|INSC_ENST00000530161.1_Missense_Mutation_p.G213E|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.G213E|INSC_ENST00000528567.1_Missense_Mutation_p.G213E	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	260					cell differentiation|nervous system development	cytoplasm	binding	p.G260V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCCACCACAGGGAACCTGTTC	0.512000													15	88					0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9646885	9646885	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9646885A>G	ENST00000593003.1	-	2	479	c.3_splice	c.e2+1	p.M1_splice	ZNF426_ENST00000535489.1_Splice_Site_p.H8_splice|ZNF426_ENST00000589289.1_Splice_Site_p.H8_splice|ZNF426_ENST00000253115.2_Splice_Site_p.H8_splice			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGAGCTTACCATGGGACAAAT	0.453000													5	29					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8148266	8148266	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:8148266T>G	ENST00000396677.2	-	2	123	c.124A>C	c.(124-126)Att>Ctt	p.I42L	RIC3_ENST00000309737.6_Missense_Mutation_p.I204L|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000343202.4_Missense_Mutation_p.I203L|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000539720.1_Missense_Mutation_p.I155L			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	204						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		AATCTGTCAATGAATTTTCCT	0.448000													9	37					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347651	91347651	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:91347651T>G	ENST00000358859.2	-	1	1302	c.869A>C	c.(868-870)tAt>tCt	p.Y290S	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		ctcctggtcatactcctcctc	0.527000													26	111					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536758	27536758	+	RNA	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:27536758C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							ACCTAGAAGGCTGGACTGCAT	0.343000													3	12					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743755	147743755	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:147743755A>G	ENST00000370460.2	+	3	986	c.507A>G	c.(505-507)gtA>gtG	p.V169V	AFF2_ENST00000370457.5_Silent_p.V165V|AFF2_ENST00000370458.1_Silent_p.V165V|AFF2_ENST00000342251.3_Silent_p.V165V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	169					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGCACTGTACTGGCAAGCC	0.468000													44	85					0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971263	45971263	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:45971263A>G	ENST00000391621.1	-	1	125	c.79T>C	c.(79-81)Tgt>Cgt	p.C27R	KRTAP10-2_ENST00000498210.1_5'UTR|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	27	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GGGAGCTCACAGCAGCTCTCT	0.687000													12	49					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16942786	16942786	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:16942786T>C	ENST00000377833.4	-	53	8313	c.8248A>G	c.(8248-8250)Agg>Ggg	p.R2750G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2750	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACCATTCCTGACAGTGACA	0.448000													5	54					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54798282	54798282	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:54798282G>A	ENST00000474759.1	+	13	1332	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	CACNA2D3_ENST00000288197.5_Silent_p.Q428Q|CACNA2D3_ENST00000490478.1_Silent_p.Q334Q|CACNA2D3_ENST00000415676.2_Silent_p.Q428Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	428	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTGATGTGCAGGAGAATGTCA	0.483000													23	79					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009217	120009217	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:120009217G>A	ENST00000371311.3	-	1	562	c.308C>T	c.(307-309)gCg>gTg	p.A103V		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	103										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GAAGTTGGCCGcctcgttccc	0.687000													6	7					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108181041	108181041	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:108181041A>G	ENST00000278616.4	+	39	6302	c.5918_splice	c.e39+1	p.R1973_splice	ATM_ENST00000452508.2_Splice_Site_p.R1973_splice|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1973	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCAAGAGAAAAGGTAATGGAA	0.338000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			4	44					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198257171	198257171	+	Silent	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:198257171T>G	ENST00000335508.5	-	25	3862	c.3771A>C	c.(3769-3771)ccA>ccC	p.P1257P		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1257					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTTTCCGGGCTGGGTGAAACA	0.343000			Mis		myelodysplastic syndrome								5	36					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13208754	13208754	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:13208754C>T	ENST00000197268.8	+	2	427	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	103						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GTCATATGTGCGCACGTCTGT	0.582000													14	69					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50386086	50386086	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:50386086T>C	ENST00000434422.1	-	15	1821	c.1520A>G	c.(1519-1521)cAt>cGt	p.H507R	RACGAP1_ENST00000548961.1_Missense_Mutation_p.H17R|RACGAP1_ENST00000427314.2_Missense_Mutation_p.H507R|RACGAP1_ENST00000547905.1_Missense_Mutation_p.H507R|RACGAP1_ENST00000551016.1_Missense_Mutation_p.H507R|RACGAP1_ENST00000454520.2_Missense_Mutation_p.H507R|RACGAP1_ENST00000312377.5_Missense_Mutation_p.H507R			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	507	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						GGGCACAGCATGGGCCACTAT	0.448000													22	115					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087193	9087193	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9087193G>T	ENST00000397910.4	-	1	4825	c.4622C>A	c.(4621-4623)aCa>aAa	p.T1541K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1541	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						CCACGTGGTTGTCAGTGGGGT	0.473000													30	147					3.73148e-12	4.71323e-12	1	1	0
MNX1	3110	broad.mit.edu	37	7	156798491	156798491	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:156798491G>A	ENST00000252971.6	-	3	1229	c.929C>T	c.(928-930)gCg>gTg	p.A310V	MNX1_ENST00000543409.1_Missense_Mutation_p.A98V|MNX1_ENST00000469500.1_Intron	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	310					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGTTTCTCCGCTTCCTGCGC	0.687000													3	31					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141201983	141201983	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:141201983T>A	ENST00000389484.3	-	65	11181	c.10210A>T	c.(10210-10212)Acc>Tcc	p.T3404S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3404	LDL-receptor class A 23.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGTTCTTGGTACATTTGAAT	0.388000										TSP Lung(27;0.18)			20	68					0	0	1	0	0
GNAT3	346562	broad.mit.edu	37	7	80103630	80103630	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:80103630T>A	ENST00000398291.3	-	5	620	c.527A>T	c.(526-528)cAt>cTt	p.H176L	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	176					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CACTCGAGAATGGAGAACATC	0.323000													5	6					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692115	116692115	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:116692115C>A	ENST00000357780.3	-	3	773	c.659G>T	c.(658-660)cGc>cTc	p.R220L		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CAGGCTGCGGCGCAGCTCCTC	0.582000													19	115					3.99206e-14	5.15259e-14	1	1	0
HELQ	113510	broad.mit.edu	37	4	84358134	84358134	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:84358134T>C	ENST00000295488.3	-	9	2087	c.1925A>G	c.(1924-1926)tAt>tGt	p.Y642C	HELQ_ENST00000510985.1_Missense_Mutation_p.Y575C	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	642	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ACTGTGGTGATAGGCAACTCC	0.448000								Other identified genes with known or suspected DNA repair function					4	29					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31778294	31778294	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:31778294A>T	ENST00000543095.2	-	29	4720	c.4536T>A	c.(4534-4536)ctT>ctA	p.L1512L	HEATR5A_ENST00000439348.1_Silent_p.L1506L|HEATR5A_ENST00000439727.1_Silent_p.L1219L|HEATR5A_ENST00000389961.3_Silent_p.L1506L	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1506							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CCGTGCTTGTAAGCCACAATG	0.463000													28	112					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650420	121650420	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:121650420C>T	ENST00000393386.2	+	12	1731	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	PTPRZ1_ENST00000449182.1_Silent_p.G440G	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	440					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTGAAGAAGGCGCTATTGTGA	0.378000													12	65					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142724022	142724022	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:142724022A>T	ENST00000350513.2	-	1	260	c.198T>A	c.(196-198)tcT>tcA	p.S66S		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TCTCCAGGGTAGAGAGGTGGC	0.458000													14	74					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78181601	78181601	+	Silent	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:78181601T>A	ENST00000264914.4	-	5	1484	c.948A>T	c.(946-948)ggA>ggT	p.G316G	ARSB_ENST00000396151.3_Silent_p.G316G|ARSB_ENST00000521800.1_5'UTR|ARSB_ENST00000565165.1_Silent_p.G316G	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	316					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TCCATTTTCTTCCTCGAAGGG	0.532000													26	73					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33772338	33772338	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:33772338C>T	ENST00000285013.6	-	3	637	c.362G>A	c.(361-363)gGt>gAt	p.G121D	SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000526861.1_Missense_Mutation_p.G121D|SLFN13_ENST00000542635.1_Missense_Mutation_p.G121D|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.G121D	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	121						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATTGAAAGAACCATCTTTAAG	0.393000													33	47					0	0	1	0	0
TMCO1	54499	broad.mit.edu	37	1	165721382	165721382	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:165721382T>G	ENST00000367881.5	-	5	708	c.433A>C	c.(433-435)Att>Ctt	p.I145L	TMCO1_ENST00000464650.1_Missense_Mutation_p.I10L|TMCO1_ENST00000580248.1_Missense_Mutation_p.I10L|TMCO1_ENST00000392129.6_Missense_Mutation_p.I94L			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	94						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CAAAAGCCAATAGCAAACATG	0.303000													7	37					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154557298	154557298	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:154557298T>C	ENST00000368474.4	-	15	3864	c.3665A>G	c.(3664-3666)tAt>tGt	p.Y1222C	ADAR_ENST00000292205.5_Missense_Mutation_p.Y1265C|ADAR_ENST00000368471.3_Missense_Mutation_p.Y927C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1222					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGGCAGAGATAAAAGTTCTT	0.483000													28	111					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50666524	50666524	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:50666524G>A	ENST00000216373.5	-	4	669	c.395C>T	c.(394-396)gCt>gTt	p.A132V	SOS2_ENST00000543680.1_Missense_Mutation_p.A132V	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	132					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTCTAGTACAGCCACAATATA	0.318000													7	74					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98641412	98641412	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:98641412T>A	ENST00000261574.5	+	7	695	c.515T>A	c.(514-516)aTt>aAt	p.I172N	IPO5_ENST00000539640.1_Intron|IPO5_ENST00000490680.1_Missense_Mutation_p.I154N	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	154					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GCCCTTCACATTTTCTGGTAT	0.373000													10	21					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1955101	1955101	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:1955101T>C	ENST00000382895.3	+	14	2619	c.2188T>C	c.(2188-2190)Tgt>Cgt	p.C730R	WHSC1_ENST00000382892.2_Missense_Mutation_p.C730R|WHSC1_ENST00000382891.5_Missense_Mutation_p.C730R|WHSC1_ENST00000382888.3_Missense_Mutation_p.C78R|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Missense_Mutation_p.C730R	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	730					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGTTAAGCGCTGTGTGGTAAC	0.448000			T	IGH@	MM								8	109					0	0	1	0	0
CTSW	1521	broad.mit.edu	37	11	65650585	65650585	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:65650585T>C	ENST00000528419.1	+	8	795	c.791T>C	c.(790-792)aTc>aCc	p.I264T	CTSW_ENST00000307886.3_Missense_Mutation_p.I264T			P56202	CATW_HUMAN	cathepsin W	264					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		ACCGTGACCATCAACATGAAG	0.612000													18	111					0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228109378	228109378	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:228109378G>A	ENST00000272164.5	-	4	949	c.939C>T	c.(937-939)tgC>tgT	p.C313C	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	313					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)				TCTCACGGTGGCACCTACGGC	0.672000													7	32					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148849	103148849	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:103148849G>A	ENST00000295269.4	+	12	2556	c.2099G>A	c.(2098-2100)gGg>gAg	p.G700E		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	700					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCTCGGATAGGGTCACTTCAG	0.458000													4	53					0	0	1	0	0
PYCARD	29108	broad.mit.edu	37	16	31213972	31213972	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:31213972T>C	ENST00000247470.9	-	1	341	c.40A>G	c.(40-42)Aac>Gac	p.N14D	C16orf98_ENST00000561916.2_Silent_p.V66V|PYCARD_ENST00000350605.4_Missense_Mutation_p.N14D	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	14	DAPIN.				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding			NS(1)|kidney(1)	2						GCGGTCAGGTTCTCCAGCGCA	0.716000													7	20					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303549	6303549	+	Missense_Mutation	SNP	G	G	A	rs143055296		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:6303549G>A	ENST00000226760.1	+	8	2197	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	WFS1_ENST00000503569.1_Missense_Mutation_p.R676H	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	676					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGCGGGCCACGCGCCTGGAAG	0.622000													12	55					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528486	57528486	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:57528486C>A	ENST00000420713.1	+	4	431	c.319C>A	c.(319-321)Ctc>Atc	p.L107I		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAAAGATTCACTCCAAAAAGT	0.383000													4	24					0.184627	0.185412	1	1	0
MYPN	84665	broad.mit.edu	37	10	69934191	69934191	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:69934191A>G	ENST00000358913.5	+	11	2830	c.2342A>G	c.(2341-2343)cAa>cGa	p.Q781R	MYPN_ENST00000540630.1_Missense_Mutation_p.Q781R|MYPN_ENST00000354393.2_Missense_Mutation_p.Q506R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	781						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTTTCCATCCAAAATGAGCCA	0.527000													10	47					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103276722	103276722	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:103276722G>A	ENST00000424685.2	-	18	2422	c.2263C>T	c.(2263-2265)Cgt>Tgt	p.R755C	RELN_ENST00000343529.5_Missense_Mutation_p.R755C|RELN_ENST00000428762.1_Missense_Mutation_p.R755C			P78509	RELN_HUMAN	reelin	755					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTAGCTGACGCCGCCCATCT	0.433000													6	24					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89220988	89220988	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:89220988C>T	ENST00000554922.1	-	2	473	c.225G>A	c.(223-225)ttG>ttA	p.L75L	EML5_ENST00000352093.5_Silent_p.L75L|EML5_ENST00000380664.5_Silent_p.L75L	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	75						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTGTTGCTACCAACACTCGTT	0.333000													5	16					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789505	248789505	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:248789505G>T	ENST00000330803.2	-	1	986	c.925C>A	c.(925-927)Cag>Aag	p.Q309K		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	309			Q -> R (in dbSNP:rs1892442).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTACTTTCTGAGCAGATGAG	0.463000													12	129					6.72482e-11	8.36002e-11	1	1	0
WRAP53	55135	broad.mit.edu	37	17	7606341	7606341	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:7606341G>T	ENST00000316024.5	+	9	3647	c.1299G>T	c.(1297-1299)acG>acT	p.T433T	WRAP53_ENST00000457584.2_Silent_p.T433T|WRAP53_ENST00000396463.2_Silent_p.T433T|WRAP53_ENST00000534050.1_Silent_p.T400T|WRAP53_ENST00000431639.2_Silent_p.T433T			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	433					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GTGGCAGCACGAGCGGGGCTG	0.637000													8	25					7.48243e-07	8.69759e-07	1	1	0
THADA	63892	broad.mit.edu	37	2	43793906	43793906	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:43793906A>G	ENST00000403856.1	-	16	2389	c.2242T>C	c.(2242-2244)Tcc>Ccc	p.S748P	THADA_ENST00000415080.2_Missense_Mutation_p.S458P|THADA_ENST00000405975.2_Missense_Mutation_p.S748P|THADA_ENST00000405006.4_Missense_Mutation_p.S748P|THADA_ENST00000330266.7_Missense_Mutation_p.S458P|THADA_ENST00000404790.1_Missense_Mutation_p.S748P|THADA_ENST00000402360.2_Missense_Mutation_p.S748P			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	748							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)				GTCGAGTAGGAAGATCCAGGA	0.303000													3	13					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124266208	124266208	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:124266208C>A	ENST00000395571.3	-	3	2596	c.1979G>T	c.(1978-1980)aGt>aTt	p.S660I	ZHX1_ENST00000522655.1_Missense_Mutation_p.S660I|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.S660I	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	660					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTGCCTGTACTCCCTGACTT	0.438000													18	123					6.94344e-10	8.54188e-10	1	1	0
NCAPG	64151	broad.mit.edu	37	4	17824746	17824746	+	Splice_Site	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:17824746G>A	ENST00000251496.2	+	8	1435	c.1259_splice	c.e8+1	p.R420_splice		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	420					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GAAGGAGGAAGGTATGTCTAA	0.294000													6	38					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186310226	186310226	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:186310226G>A	ENST00000367478.3	-	29	4250	c.3954C>T	c.(3952-3954)agC>agT	p.S1318S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1318					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.S1319S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAACATACCGCTTTTCTCAC	0.388000			T	NTRK1	papillary thyroid								8	82					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112915284	112915284	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:112915284G>T	ENST00000161863.4	+	24	3459	c.3244_splice	c.e24-1	p.V1082_splice		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1082							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTTGGACAGTGGATGGCATTC	0.378000													17	75					6.49762e-13	8.26016e-13	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212293190	212293190	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:212293190C>T	ENST00000342788.4	-	22	2972	c.2662G>A	c.(2662-2664)Gct>Act	p.A888T	ERBB4_ENST00000402597.1_Missense_Mutation_p.A878T|ERBB4_ENST00000436443.1_Missense_Mutation_p.A888T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	888	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CACTCCAGAGCCATCCATTTA	0.308000										TSP Lung(8;0.080)			12	77					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46752036	46752036	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:46752036G>T	ENST00000343304.6	-	4	778	c.493C>A	c.(493-495)Cga>Aga	p.R165R	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	165										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GTGAGCTGTCGGACATGGCGG	0.567000													8	25					1.12685e-05	1.26986e-05	1	1	0
MESP2	145873	broad.mit.edu	37	15	90319996	90319996	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:90319996G>A	ENST00000341735.3	+	1	408	c.408G>A	c.(406-408)tcG>tcA	p.S136S	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	136	Helix-loop-helix motif.				Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GCCACCTATCGGCCGTGCTGG	0.721000													5	6					0	0	1	0	0
C7orf33	202865	broad.mit.edu	37	7	148311279	148311279	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:148311279G>C	ENST00000307003.2	+	2	711	c.350G>C	c.(349-351)aGg>aCg	p.R117T		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	117										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CCAGGCACCAGGATGGGCTTG	0.537000													23	66					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106456593	106456593	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:106456593C>A	ENST00000407775.2	+	3	535	c.285C>A	c.(283-285)gaC>gaA	p.D95E	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	95					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTGAGACAGACGACTGGGATG	0.433000													5	8					0.014758	0.0151955	1	1	0
TTN	7273	broad.mit.edu	37	2	179468741	179468741	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:179468741C>T	ENST00000589042.1	-	282	54897	c.54673G>A	c.(54673-54675)Gga>Aga	p.G18225R	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16584R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9352R|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9160R|TTN_ENST00000342992.6_Missense_Mutation_p.G15657R|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9285R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16584	Ig-like 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTCAATCCCACTTTGGTT	0.473000													42	225					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61510873	61510873	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:61510873C>A	ENST00000266070.4	-	16	6760	c.6435G>T	c.(6433-6435)cgG>cgT	p.R2145R	DIDO1_ENST00000395343.1_Silent_p.R2145R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2145	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					tgtcccagtcccggctggagt	0.721000													13	16					1.61879e-10	1.99769e-10	1	1	0
GREB1	9687	broad.mit.edu	37	2	11737992	11737992	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:11737992T>C	ENST00000381486.2	+	14	2340	c.2040T>C	c.(2038-2040)gaT>gaC	p.D680D	GREB1_ENST00000234142.5_Silent_p.D680D	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	680						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCATTGCGGATTCCAGCACCC	0.552000													14	221					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138642967	138642967	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:138642967C>A	ENST00000218099.2	+	7	798	c.791C>A	c.(790-792)aCt>aAt	p.T264N	F9_ENST00000394090.2_Missense_Mutation_p.T226N	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	264	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGGATTGTAACTGCTGCCCAC	0.358000													43	20					8.20599e-20	1.08891e-19	1	1	0
SERINC2	347735	broad.mit.edu	37	1	31899543	31899543	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:31899543C>T	ENST00000373710.1	+	7	953	c.680C>T	c.(679-681)gCg>gTg	p.A227V	SERINC2_ENST00000536859.1_Missense_Mutation_p.A222V|SERINC2_ENST00000536384.1_Missense_Mutation_p.A222V|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373709.3_Missense_Mutation_p.A218V	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	218						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTGTCGATCGCGGCCGTGGCG	0.597000													18	69					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73228076	73228076	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:73228076T>C	ENST00000447371.2	+	13	1316		c.e13+2		NUP85_ENST00000245544.4_Splice_Site|NUP85_ENST00000579298.1_Splice_Site|NUP85_ENST00000540768.1_Splice_Site|NUP85_ENST00000541827.1_Splice_Site|NUP85_ENST00000579324.1_Splice_Site			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CTGAACAAGGTGAGCTGGCCC	0.592000													3	21					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119045255	119045255	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:119045255A>G	ENST00000409109.1	+	6	1530	c.943A>G	c.(943-945)Acc>Gcc	p.T315A	NLRX1_ENST00000409265.4_Missense_Mutation_p.T315A|NLRX1_ENST00000409991.1_Missense_Mutation_p.T315A|NLRX1_ENST00000292199.2_Missense_Mutation_p.T315A|NLRX1_ENST00000525863.1_Missense_Mutation_p.T315A			Q86UT6	NLRX1_HUMAN	NLR family member X1	315	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TTTCTCTGATACCAACCTGCA	0.597000													7	135					0	0	1	0	0
PMF1	11243	broad.mit.edu	37	1	156182918	156182918	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:156182918C>A	ENST00000368277.3	+	1	121	c.112C>A	c.(112-114)Ctc>Atc	p.L38I	PMF1_ENST00000368279.3_Missense_Mutation_p.L38I|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.L38I|PMF1_ENST00000565805.1_Missense_Mutation_p.L38I|PMF1_ENST00000466489.1_3'UTR|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.L38I|PMF1_ENST00000368273.4_Missense_Mutation_p.L38I|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.L38I|PMF1_ENST00000567140.1_Missense_Mutation_p.L38I	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					GGTGAAGCTCCTCGACACCAT	0.572000													8	64					0.00307968	0.00324451	1	1	0
CLCN1	1180	broad.mit.edu	37	7	143028329	143028329	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:143028329C>A	ENST00000343257.2	+	9	1071	c.984C>A	c.(982-984)acC>acA	p.T328T		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	328					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTACAGTCACCATCACTGCTC	0.493000													30	65					8.88839e-20	1.17814e-19	1	1	0
TMA16	55319	broad.mit.edu	37	4	164415933	164415933	+	Translation_Start_Site	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:164415933C>A	ENST00000358572.5	+	0	321				TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000513134.1_De_novo_Start_OutOfFrame|TMA16_ENST00000508268.1_De_novo_Start_OutOfFrame|TMA16_ENST00000513272.1_De_novo_Start_OutOfFrame	NM_018352.2	NP_060822.2	Q96EY4	CD043_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)																		GGAGCTGCTCCGTGGCCACGA	0.662000													7	23					0.0477658	0.048841	1	1	0
OLFML2B	25903	broad.mit.edu	37	1	161954714	161954714	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:161954714C>A	ENST00000294794.3	-	7	1954	c.1531G>T	c.(1531-1533)Ggg>Tgg	p.G511W	OLFML2B_ENST00000367940.2_Missense_Mutation_p.G512W|OLFML2B_ENST00000367938.1_5'UTR	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	511	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TCATTCCGCCCATATGTGTTC	0.547000													27	123					1.2476e-16	1.63531e-16	1	1	0
AMIGO2	347902	broad.mit.edu	37	12	47471225	47471225	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:47471225A>G	ENST00000266581.4	-	2	2027	c.1561T>C	c.(1561-1563)Tcc>Ccc	p.S521P	AMIGO2_ENST00000321382.3_Missense_Mutation_p.S521P|AMIGO2_ENST00000429635.1_Missense_Mutation_p.S521P|AMIGO2_ENST00000550413.1_Missense_Mutation_p.S521P	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	521					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					AATTAAGTGGACGCCACAAAA	0.403000													5	20					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588589	72588589	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:72588589A>T	ENST00000392620.1	+	3	766	c.404A>T	c.(403-405)gAa>gTa	p.E135V	C17orf77_ENST00000328023.2_Missense_Mutation_p.E135V	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	135						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TGTGGAAAAGAAAATGTGTCC	0.483000													20	81					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109884687	109884687	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:109884687T>C	ENST00000256637.6	-	9	1115	c.1057A>G	c.(1057-1059)Att>Gtt	p.I353V	SORT1_ENST00000538502.1_Missense_Mutation_p.I216V	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	353					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GCTGCCAGAATAGAATAGAAC	0.453000													30	73					0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39884470	39884470	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:39884470G>T	ENST00000393939.2	-	7	1192	c.1183C>A	c.(1183-1185)Cag>Aag	p.Q395K	JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.Q403K|HAP1_ENST00000347901.4_Missense_Mutation_p.Q395K|HAP1_ENST00000310778.5_Missense_Mutation_p.Q395K			P54257	HAP1_HUMAN	huntingtin-associated protein 1	395	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CAGCGCTGCTGCAGCTTCAGC	0.632000													6	39					2.7689e-08	3.32324e-08	1	1	0
METTL13	51603	broad.mit.edu	37	1	171763663	171763663	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:171763663T>C	ENST00000361735.3	+	7	2087	c.1821T>C	c.(1819-1821)ccT>ccC	p.P607P	METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Silent_p.P451P|METTL13_ENST00000362019.3_Silent_p.P521P|METTL13_ENST00000458517.1_Silent_p.P606P	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	607							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TCTTGACTCCTGAAGGTATGG	0.433000													10	62					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52741620	52741620	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:52741620A>G	ENST00000306051.2	+	2	1120	c.1018A>G	c.(1018-1020)Att>Gtt	p.I340V	PTGDR_ENST00000553372.1_3'UTR	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	340						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CAAGATTTTCATTAGACCTCT	0.408000													3	22					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36495347	36495347	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:36495347G>T	ENST00000342292.4	-	2	876	c.856C>A	c.(856-858)Cca>Aca	p.P286T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	286						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TACCAGCCTGGGCCACTTGCA	0.552000													21	30					2.27525e-19	3.00568e-19	1	1	0
TMEM67	91147	broad.mit.edu	37	8	94793932	94793932	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:94793932A>T	ENST00000453321.3	+	10	1083	c.1025A>T	c.(1024-1026)aAt>aTt	p.N342I	TMEM67_ENST00000409623.3_Missense_Mutation_p.N261I|TMEM67_ENST00000425545.2_3'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	342					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ATAAGAGGAAATTTTCTCAAG	0.323000													8	23					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793334	17793334	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:17793334G>A	ENST00000379472.3	+	2	723	c.693G>A	c.(691-693)acG>acA	p.T231T	KCNC1_ENST00000265969.6_Silent_p.T231T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	231						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCAATGGCACGCAAGTGCGCT	0.577000													9	82					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19162560	19162560	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:19162560T>C	ENST00000535612.1	+	5	841	c.409T>C	c.(409-411)Tac>Cac	p.Y137H	ARMC6_ENST00000269932.6_Missense_Mutation_p.Y112H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Y112H|ARMC6_ENST00000546344.1_Missense_Mutation_p.Y44H|ARMC6_ENST00000392336.3_Missense_Mutation_p.Y137H	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	137							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GAAGGGGGCCTACCCCATCAT	0.637000													9	52					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394472	52394472	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:52394472A>G	ENST00000354957.3	-	5	1201	c.917T>C	c.(916-918)gTt>gCt	p.V306A	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.V278A	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTGATGTACAACGAGTAGTGA	0.438000													4	40					0	0	1	0	0
DDX55	57696	broad.mit.edu	37	12	124094491	124094491	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:124094491A>T	ENST00000238146.4	+	7	607	c.557A>T	c.(556-558)aAc>aTc	p.N186I	DDX55_ENST00000538744.1_Missense_Mutation_p.N186I	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	186	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ATCAGCATCAACACCATTCTG	0.488000													12	53					0	0	1	0	0
C1orf227	149643	broad.mit.edu	37	1	213009321	213009321	+	Silent	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:213009321G>C	ENST00000332912.3	-	2	278	c.171C>G	c.(169-171)tcC>tcG	p.S57S		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	57										kidney(1)|large_intestine(1)|lung(1)	3						TATCAGTAAAGGACTGATAGG	0.478000													47	126					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7496106	7496106	+	Silent	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:7496106G>C	ENST00000250113.7	-	14	1969	c.1635C>G	c.(1633-1635)cgC>cgG	p.R545R	MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	545	Poly-Arg.					cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GGGAGCGGCGGCGCCTGGCAC	0.617000													4	22					0	0	1	0	0
MSC	9242	broad.mit.edu	37	8	72756272	72756272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:72756272C>A	ENST00000325509.4	-	1	431	c.142G>T	c.(142-144)Gag>Tag	p.E48*	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	48	Glu-rich (acidic).				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TCCTCCTCCTCTGCCGACGAG	0.741000													3	11					0.004672	0.00489586	1	1	0
TTN	7273	broad.mit.edu	37	2	179468719	179468719	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:179468719T>G	ENST00000589042.1	-	282	54919	c.54695A>C	c.(54694-54696)aAt>aCt	p.N18232T	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N16591T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N9359T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N9167T|TTN_ENST00000342992.6_Missense_Mutation_p.N15664T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N9292T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16591							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGAGGAACATTAAATTCCAC	0.468000													37	197					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242128062	242128062	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:242128062A>T	ENST00000274979.8	+	1	139	c.36A>T	c.(34-36)caA>caT	p.Q12H	ANO7_ENST00000402530.3_Missense_Mutation_p.Q12H|ANO7_ENST00000402430.3_Missense_Mutation_p.Q12H	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	12						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CGGGGCTCCAAGGGCCACCCC	0.677000													8	28					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64026363	64026363	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:64026363G>A	ENST00000540288.1	+	12	1363	c.1260G>A	c.(1258-1260)aaG>aaA	p.K420K	PLCB3_ENST00000325234.5_Silent_p.K353K|PLCB3_ENST00000279230.6_Silent_p.K420K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	420	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCAGGGCAAAGCAACAGGCAA	0.607000													5	33					0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340530	29340530	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:29340530T>A	ENST00000269205.5	-	1	313	c.125A>T	c.(124-126)aAg>aTg	p.K42M	SLC25A52_ENST00000579441.2_Missense_Mutation_p.K32M	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	32					transport	integral to membrane|mitochondrial inner membrane											CAAGTAATGCTTCATTTCACC	0.413000													26	49					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848155	215848155	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:215848155G>T	ENST00000366943.2	-	63	13484	c.13098C>A	c.(13096-13098)gcC>gcA	p.A4366A	USH2A_ENST00000307340.3_Silent_p.A4366A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4366	Fibronectin type-III 29.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGCACTGACGGCCCAAAGAT	0.478000										HNSCC(13;0.011)			30	38					4.43304e-23	5.91572e-23	1	1	0
ZNF230	7773	broad.mit.edu	37	19	44515285	44515285	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:44515285G>A	ENST00000429154.2	+	5	1322	c.1094G>A	c.(1093-1095)aGa>aAa	p.R365K		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AAACCATACAGATGTGAGGAG	0.443000													36	110					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765790	77765790	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:77765790G>C	ENST00000521891.2	+	10	7081	c.6633G>C	c.(6631-6633)caG>caC	p.Q2211H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2185H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2166H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2166H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2166						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGATCCACAGCCCACCTCTT	0.373000										HNSCC(33;0.089)			18	106					0	0	1	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250913	142250913	+	RNA	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:142250913T>A	ENST00000390360.3	-	0	154																											ATGTCTCATATCCTGGGTACA	0.493000													6	63					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137478	40137478	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:40137478C>A	ENST00000278198.2	-	2	2328	c.365G>T	c.(364-366)gGt>gTt	p.G122V	LRRC4C_ENST00000528697.1_Missense_Mutation_p.G122V|LRRC4C_ENST00000530763.1_Missense_Mutation_p.G122V|LRRC4C_ENST00000527150.1_Missense_Mutation_p.G122V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	122					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTTCGCCAGACCATTGAAAGC	0.433000													24	23					2.89027e-11	3.6159e-11	1	1	0
BRWD3	254065	broad.mit.edu	37	X	79984377	79984377	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:79984377C>A	ENST00000373275.4	-	14	1476	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	420										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTTTAGTGATCTTGTCTTCTC	0.333000													13	19					2.27111e-07	2.67683e-07	1	1	0
FLG2	388698	broad.mit.edu	37	1	152328032	152328032	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:152328032C>T	ENST00000388718.5	-	3	2302	c.2230G>A	c.(2230-2232)Ggc>Agc	p.G744S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	744	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)			TGTCCAAAGCCAGAGGACTGA	0.507000													67	440					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5853387	5853387	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:5853387C>A	ENST00000327087.8	-	12	1346	c.1275G>T	c.(1273-1275)gcG>gcT	p.A425A	ANO2_ENST00000546188.1_Silent_p.A426A|ANO2_ENST00000356134.5_Silent_p.A426A			Q9NQ90	ANO2_HUMAN	anoctamin 2	430						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGCTGGCCTGCGCGGTCCCAC	0.557000													6	43					3.59834e-05	3.97534e-05	1	1	0
ACOT7	11332	broad.mit.edu	37	1	6324738	6324738	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:6324738C>T	ENST00000361521.4	-	9	2023	c.1032G>A	c.(1030-1032)gaG>gaA	p.E344E	ACOT7_ENST00000377855.2_Silent_p.E354E|ACOT7_ENST00000377845.3_Silent_p.E324E|ACOT7_ENST00000377842.3_Silent_p.E303E|ACOT7_ENST00000545482.1_Silent_p.E239E	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	354						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		AGCGCTTCTTCTCGTCCTCGG	0.637000													3	24					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135187144	135187144	+	Splice_Site	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:135187144C>T	ENST00000372169.2	-	11	5556	c.5374_splice	c.e11+1	p.V1792_splice	SETX_ENST00000224140.5_Splice_Site_p.V1792_splice|SETX_ENST00000393220.1_Splice_Site_p.V1792_splice			Q7Z333	SETX_HUMAN	senataxin	1792					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAAACTTACCTGCAAACTCC	0.338000													3	22					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53218942	53218942	+	Silent	SNP	C	C	T	rs145324216		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:53218942C>T	ENST00000394729.2	+	9	1168	c.840C>T	c.(838-840)tgC>tgT	p.C280C	PRKCD_ENST00000330452.3_Silent_p.C280C	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	280					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CCAACCTCTGCGGCATCAACC	0.612000													5	25					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58240827	58240827	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:58240827G>T	ENST00000377918.3	+	3	2683	c.2657G>T	c.(2656-2658)aGc>aTc	p.S886I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	886					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAAAGAGCCAGCCTGAGAGAC	0.463000													10	41					3.86212e-05	4.25879e-05	1	1	0
SLAMF9	89886	broad.mit.edu	37	1	159923178	159923178	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:159923178A>C	ENST00000368093.3	-	2	428	c.312T>G	c.(310-312)gaT>gaG	p.D104E	SLAMF9_ENST00000466773.1_Intron|SLAMF9_ENST00000368092.3_Missense_Mutation_p.D104E	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	104						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAAGCCCTGAATCCTCCCAGC	0.502000													7	90					0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103947550	103947550	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:103947550C>A	ENST00000394785.3	-	12	2222	c.1591G>T	c.(1591-1593)Gga>Tga	p.G531*	SLC9B2_ENST00000503230.1_Nonsense_Mutation_p.G474*|SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000503103.1_3'UTR|SLC9B2_ENST00000362026.3_Nonsense_Mutation_p.G531*	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	531					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										GAAGTCTCTCCTTGAACTTCT	0.388000													6	48					3.59834e-05	3.97534e-05	1	1	0
CSPP1	79848	broad.mit.edu	37	8	68062151	68062151	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:68062151T>G	ENST00000262210.5	+	16	2125	c.2094T>G	c.(2092-2094)gaT>gaG	p.D698E	CSPP1_ENST00000412460.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	733						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACCTAGAAGATGCTGCAAATA	0.323000													35	88					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158064144	158064144	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:158064144C>T	ENST00000368172.1	+	10	1215	c.1203C>T	c.(1201-1203)tgC>tgT	p.C401C	KIRREL_ENST00000359209.6_Silent_p.C587C|KIRREL_ENST00000360089.4_Silent_p.C423C|KIRREL_ENST00000368173.3_Silent_p.C603C|KIRREL_ENST00000416935.2_Silent_p.C487C|KIRREL_ENST00000392272.2_Silent_p.C484C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	587	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					ACCTGCGCTGCGACACCATCG	0.602000													4	14					0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84213680	84213680	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:84213680G>A	ENST00000567759.1	-	13	1753	c.1571C>T	c.(1570-1572)gCg>gTg	p.A524V	TAF1C_ENST00000378541.4_Missense_Mutation_p.A524V|TAF1C_ENST00000541676.1_Missense_Mutation_p.A431V|TAF1C_ENST00000341690.6_Missense_Mutation_p.A430V|TAF1C_ENST00000566732.1_Missense_Mutation_p.A498V|TAF1C_ENST00000570117.1_Missense_Mutation_p.A192V	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	524					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGGCACCGACGCCCCTTCTCC	0.687000													5	4					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717510	142717510	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:142717510A>G	ENST00000381779.4	-	2	1640	c.1415T>C	c.(1414-1416)aTg>aCg	p.M472T	SLITRK4_ENST00000338017.4_Missense_Mutation_p.M472T|SLITRK4_ENST00000356928.1_Missense_Mutation_p.M472T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	472						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAAATTTGGCATGGAGTCAAA	0.398000													66	37					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848817	166848817	+	Silent	SNP	G	G	T	rs121917955		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:166848817G>T	ENST00000423058.2	-	26	4985	c.4968C>A	c.(4966-4968)atC>atA	p.I1656I	SCN1A_ENST00000409050.1_Silent_p.I1628I|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I1645I|SCN1A_ENST00000303395.4_Silent_p.I1656I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1656			I -> M (in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation; dbSNP:rs121917955).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCAGCGTGCGGATCCCCTTTG	0.493000													52	53					4.25531e-23	5.68498e-23	1	1	0
ATP8A1	10396	broad.mit.edu	37	4	42509100	42509100	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:42509100C>T	ENST00000381668.5	-	23	2250	c.2019G>A	c.(2017-2019)acG>acA	p.T673T	ATP8A1_ENST00000264449.10_Silent_p.T658T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	673			T -> M (in dbSNP:rs3792687).		ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CTTTCATTAGCGTTTCTATGG	0.373000													6	95					0	0	1	0	0
TIAL1	7073	broad.mit.edu	37	10	121337189	121337189	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:121337189T>C	ENST00000369092.4	-	9	1555	c.247A>G	c.(247-249)Act>Gct	p.T83A	TIAL1_ENST00000369093.2_Missense_Mutation_p.T223A|TIAL1_ENST00000436547.2_Missense_Mutation_p.T206A			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	206	RRM 1.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CAGTACACAGTACAATTTTTT	0.368000													17	73					0	0	1	0	0
TMEM82	388595	broad.mit.edu	37	1	16071048	16071048	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:16071048T>C	ENST00000375782.1	+	4	868	c.730T>C	c.(730-732)Tac>Cac	p.Y244H	TMEM82_ENST00000465575.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	244	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCATCTGCTACACGCTGCT	0.632000													3	12					0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70715732	70715732	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:70715732T>C	ENST00000370950.3	+	11	1200		c.e11+2		SRSF11_ENST00000405432.1_Splice_Site|SRSF11_ENST00000484162.1_Splice_Site|SRSF11_ENST00000370951.1_Splice_Site|SRSF11_ENST00000370949.1_Splice_Site			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						CCCTAGGAGGTAAGAATGTTA	0.373000													6	23					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154172	5154172	+	Missense_Mutation	SNP	G	G	A	rs149582940	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:5154172G>A	ENST00000252321.3	+	1	1088	c.859G>A	c.(859-861)Gcg>Acg	p.A287T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	287						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CCACCCTCCGGCGCCCCACCA	0.682000													11	65					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77286968	77286968	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:77286968T>C	ENST00000341514.6	+	16	3337	c.3182T>C	c.(3181-3183)gTt>gCt	p.V1061A	ATP7A_ENST00000343533.5_Missense_Mutation_p.V983A|ATP7A_ENST00000350425.4_Missense_Mutation_p.V64A	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1061					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CAAGTAAAGGTTCTAACTGAA	0.383000													12	63					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34526967	34526967	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:34526967G>T	ENST00000374012.3	+	16	2778	c.2649G>T	c.(2647-2649)ctG>ctT	p.L883L	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCCCGCGCCTGGGCTGGCCTC	0.607000													18	30					3.32936e-07	3.90077e-07	1	1	0
IL17REL	400935	broad.mit.edu	37	22	50437719	50437719	+	Splice_Site	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:50437719C>T	ENST00000389983.2	-	9	866		c.e9+1		IL17REL_ENST00000341280.5_Splice_Site	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like											endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGGACACTTGCCGTTTTCAAA	0.647000													13	29					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530593	125530593	+	Splice_Site	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:125530593A>T	ENST00000431078.1	+	17	3112	c.2749_splice	c.e17+1	p.V916_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	916	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGTTGTTTGTAGGTAGGGGAC	0.498000													24	56					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426343	125426343	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:125426343C>A	ENST00000284674.1	+	1	473	c.420C>A	c.(418-420)gcC>gcA	p.A140A		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	140					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TCCCAGCCGCCGCGCTCGCCC	0.711000													3	9					0.150653	0.15181	1	1	0
FZD10	11211	broad.mit.edu	37	12	130647987	130647987	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:130647987C>T	ENST00000229030.4	+	1	984	c.500C>T	c.(499-501)cCg>cTg	p.P167L	FZD10_ENST00000539839.1_Silent_p.A134A			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	167					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTGTTCCCGCCGCTGTTCCGG	0.721000													11	32					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22277709	22277709	+	Splice_Site	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:22277709A>C	ENST00000263026.5	+	14	1914		c.e14-1			NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase						insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CTTTCCCTTCAGGTATGTGTA	0.612000													7	124					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107412728	107412728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:107412728G>A	ENST00000394872.2	-	37	3922	c.3691C>T	c.(3691-3693)Cga>Tga	p.R1231*	COL4A6_ENST00000538570.1_Nonsense_Mutation_p.R1206*|COL4A6_ENST00000372216.4_Nonsense_Mutation_p.R1231*|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.R1230*|COL4A6_ENST00000545689.1_Nonsense_Mutation_p.R1206*			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1231	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GACTCACCTCGATCACCTTTT	0.582000									Alport syndrome with Diffuse Leiomyomatosis				11	12					0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109432411	109432411	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:109432411G>A	ENST00000295124.4	+	10	1116	c.1056G>A	c.(1054-1056)ggG>ggA	p.G352G	CCDC138_ENST00000412964.2_Silent_p.G352G	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	352										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CACTTAATGGGCAAGTTTATG	0.308000													7	74					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86920184	86920184	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:86920184C>A	ENST00000376238.4	-	4	368	c.319G>T	c.(319-321)Ggc>Tgc	p.G107C	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G38C	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	107					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AATAAAATGCCCCAGATGATG	0.368000													5	39					0.00116845	0.00124318	1	1	0
ZNF711	7552	broad.mit.edu	37	X	84526406	84526406	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:84526406A>C	ENST00000360700.4	+	10	2882	c.1996A>C	c.(1996-1998)Aaa>Caa	p.K666Q	ZNF711_ENST00000373165.3_Missense_Mutation_p.K620Q|ZNF711_ENST00000276123.3_Missense_Mutation_p.K620Q|ZNF711_ENST00000542798.1_Missense_Mutation_p.K462Q|ZNF711_ENST00000395402.1_Missense_Mutation_p.K628Q			Q9Y462	ZN711_HUMAN	zinc finger protein 711	620				I -> L (in Ref. 4; CAA39837).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TTTTCCTCACAAATGTGAGGT	0.423000													4	32					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149474866	149474866	+	RNA	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:149474866C>T	ENST00000378016.2	+	0	665							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TACCTGCTGGCGGGTGCTGCG	0.687000													5	11					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368858	86368858	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:86368858T>C	ENST00000400286.2	-	2	2384	c.1786A>G	c.(1786-1788)Act>Gct	p.T596A		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	596						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CGTAAAATAGTATCAGCCGTA	0.413000													18	71					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156823913	156823913	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:156823913C>T	ENST00000368195.3	-	2	664	c.268G>A	c.(268-270)Gga>Aga	p.G90R	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	90					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCTCCAGTCCGTAGACACGG	0.617000													13	36					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400486	40400486	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:40400486G>T	ENST00000338305.6	-	2	909	c.367C>A	c.(367-369)Ctg>Atg	p.L123M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	123						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGTTGACCAGGCCCCGGAGG	0.587000													26	15					1.55469e-16	2.03558e-16	1	1	0
APOB	338	broad.mit.edu	37	2	21229034	21229034	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:21229034T>G	ENST00000233242.1	-	26	10833	c.10706A>C	c.(10705-10707)aAc>aCc	p.N3569T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3569					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGTAAGTGGTTTTTCGTACT	0.448000													15	62					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64792230	64792230	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:64792230G>A	ENST00000326648.3	+	1	740	c.612G>A	c.(610-612)gtG>gtA	p.V204V	ZNF609_ENST00000416172.1_Silent_p.V204V	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	204						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGCAGGGGTGGATACAGGAG	0.567000													5	21					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37836326	37836326	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:37836326C>T	ENST00000381967.4	+	3	436	c.336C>T	c.(334-336)tcC>tcT	p.S112S	PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	112					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTCATCCATCCAGTGGGGGTA	0.358000													9	61					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187760	121187760	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:121187760G>T	ENST00000321339.1	+	1	111	c.102G>T	c.(100-102)ccG>ccT	p.P34P		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	34					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GTTGGGCCCCGGGGCGCCCCT	0.771000													12	15					3.07112e-06	3.50773e-06	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58187749	58187749	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:58187749G>A	ENST00000318203.5	+	3	933	c.236G>A	c.(235-237)aGc>aAc	p.S79N		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	79	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAAAGCACAGCAAGGATGAA	0.403000													17	50					0	0	1	0	0
ZNF876P	642280	broad.mit.edu	37	4	248097	248097	+	RNA	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:248097C>T	ENST00000356347.3	+	0	921					NR_027481.1																						ATCCTCAAGCCTTATTATACA	0.373000													8	44					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120480031	120480031	+	Silent	SNP	C	C	T	rs140630687		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:120480031C>T	ENST00000256646.2	-	21	3615	c.3396G>A	c.(3394-3396)acG>acA	p.T1132T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1132	EGF-like 29.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACAGTAATGCGTGTTGCCAG	0.542000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				16	68					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356095	42356095	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:42356095T>C	ENST00000554171.1	+	5	2699	c.267T>C	c.(265-267)ttT>ttC	p.F89F	LRFN5_ENST00000554120.1_Silent_p.F89F|LRFN5_ENST00000298119.4_Silent_p.F89F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	89						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAATAAGTTTTATTACACCTC	0.363000										HNSCC(30;0.082)			10	43					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369029	22369029	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:22369029G>T	ENST00000332663.2	+	1	552	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGGAGGGGGGGCTTCATTCA	0.502000													10	248					0.000673444	0.000720414	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110826813	110826813	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:110826813G>T	ENST00000375820.4	-	39	3507	c.3386C>A	c.(3385-3387)cCt>cAt	p.P1129H		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1129	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TTTGACACCAGGGATGCCATC	0.527000													5	38					0.000602214	0.000644801	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169472840	169472840	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:169472840T>C	ENST00000256935.8	+	39	3977	c.3897T>C	c.(3895-3897)agT>agC	p.S1299S	DOCK2_ENST00000520908.1_Silent_p.S791S|DOCK2_ENST00000540750.1_Silent_p.S360S|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1299	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCCATAAGTCTGTGCAAGG	0.567000													18	46					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629138	47629138	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:47629138T>A	ENST00000546455.1	+	4	1023	c.292T>A	c.(292-294)Tac>Aac	p.Y98N	PCED1B_ENST00000432328.1_Missense_Mutation_p.Y98N					PC-esterase domain containing 1B																		CACCCGCGTGTACTCCGATTA	0.587000													11	114					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915113	176915113	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:176915113T>C	ENST00000367654.2	-	13	2235	c.2222A>G	c.(2221-2223)aAc>aGc	p.N741S	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.N733S|ASTN1_ENST00000367657.3_Missense_Mutation_p.N733S|ASTN1_ENST00000361833.2_Missense_Mutation_p.N733S			O14525	ASTN1_HUMAN	astrotactin 1	741					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGAATGGTTGTTGTAACCAAA	0.488000													28	149					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56303748	56303748	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:56303748C>A	ENST00000443188.1	-	9	3142	c.2432G>T	c.(2431-2433)tGt>tTt	p.C811F	NLRP11_ENST00000360133.3_Missense_Mutation_p.C757F|NLRP11_ENST00000592953.1_Missense_Mutation_p.C712F|NLRP11_ENST00000589093.1_Missense_Mutation_p.C811F|NLRP11_ENST00000589824.2_Missense_Mutation_p.C757F	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	811							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCGATTCACACACAGGTCTAG	0.468000													15	42					1.5739e-10	1.94636e-10	1	1	0
TPTE	7179	broad.mit.edu	37	21	10942989	10942989	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:10942989T>A	ENST00000298232.7	-	11	911	c.544A>T	c.(544-546)Att>Ttt	p.I182F	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.I162F|TPTE_ENST00000361285.4_Missense_Mutation_p.I200F	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	200					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACAGAATAATAAGTCGTAGA	0.303000													5	68					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890411	55890411	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:55890411C>T	ENST00000313472.3	+	1	563	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTAGCTCTGTCCTGCACTGAC	0.418000													32	169					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031830	32031830	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:32031830A>G	ENST00000360311.4	+	2	1808	c.1259A>G	c.(1258-1260)cAt>cGt	p.H420R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TGGAGAATCCATAATGAAGAG	0.358000													20	43					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234869469	234869469	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:234869469C>A	ENST00000324695.4	+	12	1452	c.1412C>A	c.(1411-1413)cCc>cAc	p.P471H	TRPM8_ENST00000433712.2_Missense_Mutation_p.P159H	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	471						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AAGGACAGACCCAAGTTTGTC	0.433000													13	65					2.27111e-07	2.67683e-07	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27801984	27801984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:27801984C>T	ENST00000408964.2	+	1	2596	c.2545C>T	c.(2545-2547)Cga>Tga	p.R849*		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	849										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGGAGATCACGATCTAGGAC	0.473000													18	62					0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075426	106075426	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:106075426G>A	ENST00000278071.2	-	3	836	c.384C>T	c.(382-384)ggC>ggT	p.G128G	ITPRIP_ENST00000337478.1_Silent_p.G128G|ITPRIP_ENST00000358187.2_Silent_p.G128G	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	128						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCAAGGGGGCGCCCCCCAGCC	0.692000													9	61					0	0	1	0	0
SCN2B	6327	broad.mit.edu	37	11	118037610	118037610	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:118037610C>T	ENST00000278947.5	-	4	881	c.640G>A	c.(640-642)Gcc>Acc	p.A214T		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	214					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		CACTACTTGGCGCCATCATCC	0.617000													8	49					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133363056	133363056	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:133363056T>C	ENST00000260810.5	-	11	1787	c.1656A>G	c.(1654-1656)ttA>ttG	p.L552L	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	552	BRCT 4.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTGGCTAAATAAGCCTTCTT	0.358000								Other conserved DNA damage response genes					7	27					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995971	57995971	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:57995971C>T	ENST00000316770.2	-	1	419	c.377G>A	c.(376-378)cGc>cAc	p.R126H		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGCCACATAGCGGTCATAGGC	0.607000													12	19					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113301759	113301759	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:113301759A>T	ENST00000297405.5	-	57	9227	c.8983T>A	c.(8983-8985)Tgt>Agt	p.C2995S	CSMD3_ENST00000352409.3_Missense_Mutation_p.C2925S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2826S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C2955S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2995	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGTGTCCACAGTCAATCACT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	20					0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15212074	15212074	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:15212074T>A	ENST00000395930.1	-	8	1349	c.1163A>T	c.(1162-1164)gAc>gTc	p.D388V	TEKT3_ENST00000338696.2_Missense_Mutation_p.D388V	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	388					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGCAGTCTTGTCCTTGATGGC	0.517000													34	30					0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207631781	207631781	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:207631781C>T	ENST00000236980.6	+	2	712	c.364C>T	c.(364-366)Cct>Tct	p.P122S	FASTKD2_ENST00000403094.3_Missense_Mutation_p.P122S|FASTKD2_ENST00000402774.3_Missense_Mutation_p.P122S	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	122					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GTCTCTTGTCCCTGTTGATAA	0.363000													23	36					0	0	1	0	0
C1QL1	10882	broad.mit.edu	37	17	43044870	43044870	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:43044870G>A	ENST00000253407.3	-	1	569	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	183	C1q.				locomotory behavior	collagen				lung(1)|prostate(1)	2		Prostate(33;0.155)				TCGCCGCCGCGCATGAGGACA	0.642000													7	51					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221362	63221362	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:63221362G>A	ENST00000449996.3	+	18	1713	c.1641G>A	c.(1639-1641)ggG>ggA	p.G547G	RGS9_ENST00000262406.9_Silent_p.G550G|RGS9_ENST00000443584.3_Silent_p.G547G	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	550				GSMAPR -> WSGANP (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCCCCCGTGGGCCCTCTGTCA	0.682000													20	82					0	0	1	0	0
HYLS1	219844	broad.mit.edu	37	11	125769723	125769723	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:125769723T>A	ENST00000425380.2	+	3	1241	c.460T>A	c.(460-462)Ttt>Att	p.F154I	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000356438.3_Missense_Mutation_p.F154I|HYLS1_ENST00000526028.1_Missense_Mutation_p.F154I	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	154						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		TTCACAAAAATTTAACCTACC	0.398000													9	88					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162206910	162206910	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:162206910G>A	ENST00000366898.1	-	7	867	c.765C>T	c.(763-765)tcC>tcT	p.S255S	PARK2_ENST00000338468.3_Silent_p.S64S|PARK2_ENST00000366894.1_Silent_p.S64S|PARK2_ENST00000366896.1_Silent_p.S106S|PARK2_ENST00000366897.1_Silent_p.S227S|PARK2_ENST00000366892.1_Silent_p.S255S	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	255					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TCACGTGGCGGGAGTTGCACT	0.502000													6	15					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160238159	160238159	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:160238159A>G	ENST00000275275.5	+	15	1271	c.1100A>G	c.(1099-1101)cAc>cGc	p.H367R	PNLDC1_ENST00000392167.3_Missense_Mutation_p.H378R	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	367						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AAAGTGGCACACTTGCTTCTA	0.393000													4	30					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29815987	29815987	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:29815987T>C	ENST00000375398.2	-	15	2696		c.e15-2		SVIL_ENST00000355867.4_Splice_Site|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin						cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ATAGGTTCACTTTAAAAGCAA	0.453000													3	19					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91035793	91035793	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:91035793G>T	ENST00000268182.5	+	35	4602	c.4478G>T	c.(4477-4479)cGg>cTg	p.R1493L	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R921L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1493	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CGGAATCAGCGGAGGTACCGA	0.428000													10	16					0.00829132	0.00866553	1	1	0
ALS2	57679	broad.mit.edu	37	2	202626489	202626489	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:202626489C>A	ENST00000264276.6	-	4	600	c.228G>T	c.(226-228)gaG>gaT	p.E76D	ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.E76D	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	76					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTGGACAAATCTCCACTGGTC	0.423000													18	92					3.32936e-07	3.90077e-07	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141751631	141751631	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:141751631T>A	ENST00000389484.3	-	16	3548	c.2577A>T	c.(2575-2577)caA>caT	p.Q859H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	859	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q859H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCACCGAGCTTGGATACAGT	0.423000										TSP Lung(27;0.18)			19	71					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812773	141812773	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:141812773G>C	ENST00000389484.3	-	10	2435	c.1464C>G	c.(1462-1464)caC>caG	p.H488Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	488					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAGACAGATGTGTGAACAGC	0.443000										TSP Lung(27;0.18)			11	41					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103416123	103416123	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:103416123G>A	ENST00000361246.2	-	26	3716	c.3428C>T	c.(3427-3429)gCg>gTg	p.A1143V		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1143	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GACTTGGCTCGCAATGACACC	0.517000													5	55					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213186655	213186655	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:213186655C>A	ENST00000366962.3	-	2	319	c.165G>T	c.(163-165)atG>atT	p.M55I	ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000360506.2_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	55										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CAGGCCACCTCATACAACTAG	0.473000													14	147					4.3838e-07	5.12601e-07	1	1	0
ITGA7	3679	broad.mit.edu	37	12	56078909	56078909	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:56078909G>T	ENST00000257879.6	-	25	3562	c.3347C>A	c.(3346-3348)cCc>cAc	p.P1116H	ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000553804.1_Missense_Mutation_p.P1120H|ITGA7_ENST00000452168.2_Missense_Mutation_p.P1023H|ITGA7_ENST00000347027.6_Missense_Mutation_p.P1110H|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000555728.1_Missense_Mutation_p.P1160H	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	1160					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGCCAGGATGGGGTGTGCATC	0.682000													6	22					0.00307968	0.00324451	1	1	0
OR4K15	81127	broad.mit.edu	37	14	20444032	20444032	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:20444032G>C	ENST00000305051.5	+	1	430	c.355G>C	c.(355-357)Gat>Cat	p.D119H		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATTTCTTTTGATGCCTGCCT	0.433000													40	121					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16215926	16215926	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:16215926T>C	ENST00000399408.2	+	25	3690	c.3515T>C	c.(3514-3516)gTc>gCc	p.V1172A	ABCC1_ENST00000349029.5_Missense_Mutation_p.V1047A|ABCC1_ENST00000351154.5_Missense_Mutation_p.V1103A|ABCC1_ENST00000345148.5_Missense_Mutation_p.V1162A|ABCC1_ENST00000399410.3_Missense_Mutation_p.V1162A|ABCC1_ENST00000346370.5_Missense_Mutation_p.V1106A			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1162	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TTGCTGGGGGTCAGCGTCATT	0.612000													10	24					0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27840881	27840881	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:27840881G>T	ENST00000299340.4	-	4	747	c.404C>A	c.(403-405)aCc>aAc	p.T135N	AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000444306.1_RNA|AP001596.6_ENST00000421771.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	135						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						ACCCTGTGGGGTGGGGGAGTA	0.532000													17	47					3.41278e-10	4.20281e-10	1	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458312	45458312	+	RNA	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:45458312C>G	ENST00000548424.1	+	0	448																											TACTCTGTGGCGTGCCCACAT	0.468000													5	26					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814596	43814596	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:43814596A>G	ENST00000382031.1	+	5	1670	c.1639A>G	c.(1639-1641)Aag>Gag	p.K547E	MAP1A_ENST00000300231.5_Missense_Mutation_p.K309E|MAP1A_ENST00000399453.1_Missense_Mutation_p.K309E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	309						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TACCAACCTCAAGCCCAGCAA	0.572000													6	20					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161128731	161128731	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:161128731A>T	ENST00000523217.1	+	9	1526	c.1284A>T	c.(1282-1284)gtA>gtT	p.V428V	GABRA6_ENST00000274545.5_Silent_p.V438V	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	438					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTACTGGGTAGTTTATCTTT	0.428000										TCGA Ovarian(5;0.080)			14	47					0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67648610	67648610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:67648610C>A	ENST00000347310.5	+	4	630	c.459C>A	c.(457-459)taC>taA	p.Y153*	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Nonsense_Mutation_p.Y153*	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	153	Fibronectin type-III 1.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AGCTCACCTACATAGACACAA	0.473000													27	63					1.42536e-11	1.78889e-11	1	1	0
TMTC1	83857	broad.mit.edu	37	12	29689180	29689180	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:29689180C>A	ENST00000256062.5	-	11	1896	c.1423G>T	c.(1423-1425)Gat>Tat	p.D475Y	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.D537Y|TMTC1_ENST00000552618.1_Missense_Mutation_p.D607Y|TMTC1_ENST00000539277.1_Missense_Mutation_p.D583Y|TMTC1_ENST00000551659.1_Missense_Mutation_p.D645Y	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	583						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GAATATGCATCTGCAAACTCT	0.368000													14	122					6.72482e-11	8.36002e-11	1	1	0
PHACTR1	221692	broad.mit.edu	37	6	13283761	13283761	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:13283761T>C	ENST00000332995.7	+	11	1617	c.1617T>C	c.(1615-1617)gaT>gaC	p.D539D	PHACTR1_ENST00000379329.1_Silent_p.D103D|RP1-257A7.4_ENST00000606150.1_RNA|PHACTR1_ENST00000379335.3_Silent_p.D103D|PHACTR1_ENST00000457702.2_Silent_p.D394D			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	539						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCAGGGCAGATAAGCCGTGGA	0.612000													26	46					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56400064	56400064	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:56400064C>A	ENST00000370754.5	-	63	16703	c.16704G>T	c.(16702-16704)caG>caT	p.Q5568H	DST_ENST00000421834.2_Missense_Mutation_p.Q3302H|DST_ENST00000370769.4_Missense_Mutation_p.Q5390H|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.Q5388H|DST_ENST00000446842.2_Missense_Mutation_p.Q5064H|DST_ENST00000244364.6_Missense_Mutation_p.Q2976H|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q3302H			Q03001	DYST_HUMAN	dystonin	5388					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCAAGGCCTCCTGCAGCTGGG	0.517000													14	37					6.81908e-15	8.8401e-15	1	1	0
LPPR2	64748	broad.mit.edu	37	19	11473281	11473281	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:11473281C>T	ENST00000251473.5	+	7	1132	c.756C>T	c.(754-756)ggC>ggT	p.G252G	DKFZP761J1410_ENST00000591608.1_Silent_p.G227G	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TCCTGGTGGGCGTGGTCCGCG	0.657000													6	34					0	0	1	0	0
FAM118B	79607	broad.mit.edu	37	11	126126732	126126732	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:126126732A>G	ENST00000533050.1	+	7	1460	c.967A>G	c.(967-969)Aca>Gca	p.T323A	FAM118B_ENST00000360194.4_Missense_Mutation_p.T323A	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	323										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TGAGATCTCCACAAGGGGTAC	0.433000													43	119					0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33736468	33736468	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:33736468T>C	ENST00000358232.6	+	13	1378	c.1315T>C	c.(1315-1317)Tat>Cat	p.Y439H	ELP2_ENST00000423854.2_Missense_Mutation_p.Y369H|ELP2_ENST00000542824.1_Missense_Mutation_p.Y369H|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000351393.6_Missense_Mutation_p.Y413H|ELP2_ENST00000442325.2_Missense_Mutation_p.Y504H|ELP2_ENST00000350494.6_Missense_Mutation_p.Y434H	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	439					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GATACATGGGTATGACCTGAA	0.378000													216	38					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48604668	48604668	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:48604668G>A	ENST00000342988.3	+	12	2028	c.1490G>A	c.(1489-1491)cGc>cAc	p.R497H	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.R497H|SMAD4_ENST00000588745.1_Missense_Mutation_p.R401H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	497	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.R497H(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GACCTTCGTCGCTTATGCATA	0.473000													5	30					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835492	38835492	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:38835492G>T	ENST00000449082.2	-	1	9	c.10C>A	c.(10-12)Ccc>Acc	p.P4T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	4					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GATCCAATGGGGAATTCCATC	0.473000													20	71					1.2644e-06	1.46686e-06	1	1	0
POLN	353497	broad.mit.edu	37	4	2083370	2083370	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:2083370G>A	ENST00000511885.2	-	22	2651	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	POLN_ENST00000382865.1_Silent_p.F766F			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	766					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTTGCACCACGAAGTTCACTG	0.567000								DNA polymerases (catalytic subunits)					5	25					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175105027	175105027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:175105027G>A	ENST00000239462.4	+	16	3490	c.3377G>A	c.(3376-3378)tGg>tAg	p.W1126*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1126	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.W1126*(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTCAAGCGATGGAGGAGCTAT	0.537000													18	97					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36342575	36342575	+	Splice_Site	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:36342575C>T	ENST00000378910.5	-	2	58		c.e2-1		NPHS1_ENST00000591817.1_Splice_Site|NPHS1_ENST00000353632.6_Splice_Site	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)						cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCGCCAGGCCTGAGGACACA	0.642000													3	8					0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99426256	99426256	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:99426256T>A	ENST00000370631.3	+	7	1203	c.1146T>A	c.(1144-1146)gaT>gaA	p.D382E	PI4K2A_ENST00000555577.1_Missense_Mutation_p.D352E|PI4K2A_ENST00000370649.3_Missense_Mutation_p.D352E	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	382	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		AGATCAAAGATCTGATCCTTC	0.468000													9	33					0	0	1	0	0
MUL1	79594	broad.mit.edu	37	1	20827840	20827840	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:20827840G>A	ENST00000264198.3	-	4	538	c.402C>T	c.(400-402)ggC>ggT	p.G134G		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	134					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCACATCCACGCCATCCTCGT	0.507000													11	62					0	0	1	0	0
DERA	51071	broad.mit.edu	37	12	16189224	16189224	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:16189224C>G	ENST00000428559.2	+	8	1021	c.809C>G	c.(808-810)tCt>tGt	p.S270C	DERA_ENST00000532573.1_3'UTR|DERA_ENST00000532964.1_Missense_Mutation_p.S227C|DERA_ENST00000526530.1_Missense_Mutation_p.S182C	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	270					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				GCTTGGCTCTCTCTTGTAAAG	0.463000													4	31					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177650751	177650751	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:177650751G>T	ENST00000280193.2	-	2	712	c.297C>A	c.(295-297)ctC>ctA	p.L99L		NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	99					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCCTTGAGTTGAGGTTGGCCT	0.373000													3	25					0.115264	0.116847	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169145738	169145738	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:169145738T>C	ENST00000256935.8	+	22	2290	c.2210T>C	c.(2209-2211)cTg>cCg	p.L737P	DOCK2_ENST00000520908.1_Missense_Mutation_p.L229P|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	737					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTAAGAACGCTGAAGGCTTTG	0.398000													7	52					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61492920	61492920	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:61492920A>G	ENST00000424789.2	+	23	3804	c.3800A>G	c.(3799-3801)tAc>tGc	p.Y1267C	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Y1277C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1267							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCCCAGCGCTACCAGTACGCC	0.512000													7	26					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150958830	150958830	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:150958830T>C	ENST00000368947.4	+	8	967	c.491T>C	c.(490-492)gTg>gCg	p.V164A		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	164					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTGGAGGCTGTGGATGACATC	0.562000													3	27					0	0	1	0	0
FBXO41	150726	broad.mit.edu	37	2	73491083	73491083	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:73491083C>T	ENST00000521871.1	-	7	2320	c.1905G>A	c.(1903-1905)gaG>gaA	p.E635E	FBXO41_ENST00000295133.5_Silent_p.E696E|FBXO41_ENST00000520530.2_Silent_p.E635E			Q8TF61	FBX41_HUMAN	F-box protein 41	635						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TCCGGGCATACTCCTCCTTGC	0.617000													5	6					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46836805	46836805	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:46836805G>A	ENST00000283296.7	-	12	1724	c.1436C>T	c.(1435-1437)cCa>cTa	p.P479L	GPR116_ENST00000362015.4_Missense_Mutation_p.P479L|GPR116_ENST00000456426.2_Missense_Mutation_p.P337L|GPR116_ENST00000265417.7_Missense_Mutation_p.P479L|GPR116_ENST00000545669.1_5'UTR	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	479	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AACAGAAATTGGGTCCGGGGT	0.353000													17	19					0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61995822	61995822	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:61995822G>A	ENST00000323322.5	-	2	97	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S	GH1_ENST00000351388.4_Missense_Mutation_p.P19S|GH1_ENST00000458650.2_Missense_Mutation_p.P19S|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.P19S	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	19					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TGAAGCCAGGGCAGGCAGAGC	0.612000													26	85					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52359577	52359577	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:52359577A>G	ENST00000356297.4	-	12	1612	c.1512T>C	c.(1510-1512)acT>acC	p.T504T	PXDNL_ENST00000543296.1_Silent_p.T504T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	504	Ig-like C2-type 3.				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)				TGGGTTTTACAGTCAGCTGCA	0.438000													23	83					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625939	29625939	+	Silent	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:29625939A>C	ENST00000278882.3	+	5	563	c.183A>C	c.(181-183)tcA>tcC	p.S61S	FRG1B_ENST00000439954.2_Silent_p.S66S|FRG1B_ENST00000358464.4_Silent_p.S61S																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTGGGCATTCAGATGCAATTG	0.333000													7	92					0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48080957	48080957	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:48080957C>T	ENST00000348904.3	+	3	294	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	C7orf57_ENST00000539619.1_Missense_Mutation_p.R28C|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.R73C|C7orf57_ENST00000420324.1_Missense_Mutation_p.R73C	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	28										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCCAGTGAAGCGCTCTGAGAA	0.582000													7	53					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127836062	127836062	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:127836062T>C	ENST00000556132.1	-	3	2096	c.1232A>G	c.(1231-1233)tAc>tGc	p.Y411C	SOGA3_ENST00000368268.2_Missense_Mutation_p.Y411C|SOGA3_ENST00000481848.2_Missense_Mutation_p.Y411C|SOGA3_ENST00000465909.2_Missense_Mutation_p.Y411C|SOGA3_ENST00000525778.1_Missense_Mutation_p.Y411C	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	411						integral to membrane											GCGGAGGCGGTACTGCAGGAT	0.602000													7	91					0	0	1	0	0
FAM107B	83641	broad.mit.edu	37	10	14816530	14816530	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:14816530C>G	ENST00000181796.2	-	1	366	c.133G>C	c.(133-135)Gtg>Ctg	p.V45L		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTATCAGCCACGCCGGACTGA	0.552000													14	82					0	0	1	0	0
C1orf227	149643	broad.mit.edu	37	1	213009242	213009242	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:213009242T>C	ENST00000332912.3	-	2	357	c.250A>G	c.(250-252)Atg>Gtg	p.M84V		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	84										kidney(1)|large_intestine(1)|lung(1)	3						TTTCTCTCCATGTGAGCAAGG	0.453000													17	93					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34913138	34913138	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:34913138T>C	ENST00000304718.4	+	4	706	c.390T>C	c.(388-390)acT>acC	p.T130T		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	130					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GCTGCATGACTGATGCAAAGA	0.403000													4	61					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49364124	49364124	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:49364124T>G	ENST00000301061.4	-	3	433	c.85A>C	c.(85-87)Aat>Cat	p.N29H	WNT10B_ENST00000407467.1_Missense_Mutation_p.N29H|WNT10B_ENST00000403957.1_Missense_Mutation_p.N29H	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	29					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						AGAATCTCATTGCTTAGAGCC	0.637000													5	36					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79930204	79930204	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:79930204A>C	ENST00000360280.3	+	38	4708	c.4448A>C	c.(4447-4449)gAc>gCc	p.D1483A	VPS13A_ENST00000376634.4_Missense_Mutation_p.D1483A|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.D1483A|VPS13A_ENST00000376636.3_Missense_Mutation_p.D1444A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1483					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GACAAAAAAGACATGATGGAT	0.348000													15	66					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52484375	52484375	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:52484375C>T	ENST00000219746.9	-	4	776	c.492G>A	c.(490-492)gcG>gcA	p.A164A	TOX3_ENST00000407228.3_Silent_p.A159A	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	164					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CCCCAGAACGCGCAGCATCGG	0.582000													25	65					0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35871225	35871225	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:35871225C>G	ENST00000216797.5	-	6	1049	c.948G>C	c.(946-948)acG>acC	p.T316T	NFKBIA_ENST00000557140.1_Silent_p.T273T|NFKBIA_ENST00000557389.1_Silent_p.T226T	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	316					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	p.T316T(1)		breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GCGCTCATAACGTCAGACGCT	0.393000													4	70					0	0	1	0	0
ADRA1B	147	broad.mit.edu	37	5	159344042	159344042	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:159344042A>G	ENST00000306675.3	+	1	253	c.130A>G	c.(130-132)Agg>Ggg	p.R44G		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	44					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	GGACATCACCAGGGCCATCTC	0.597000													11	47					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200558480	200558480	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:200558480C>A	ENST00000367350.4	-	18	3417	c.2979G>T	c.(2977-2979)agG>agT	p.R993S		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	993	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GCATTTTTTTCCTTTGAGACT	0.313000													5	36					0.000602214	0.000644801	1	1	0
GALNT3	2591	broad.mit.edu	37	2	166627100	166627100	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:166627100C>T	ENST00000392701.3	-	2	886	c.111G>A	c.(109-111)atG>atA	p.M37I		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	37					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CTTCTCTTTGCATTAAAACCA	0.299000													15	45					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	62014573	62014573	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:62014573G>A	ENST00000332981.5	+	13	2259	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Missense_Mutation_p.R464H|RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.A130T	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	625	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTGAACCATCGCCAAATAGAA	0.522000													48	194					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15514383	15514383	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:15514383C>A	ENST00000397410.4	-	4	329	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	AKAP8L_ENST00000595136.1_Intron|AKAP8L_ENST00000595465.1_Intron	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	89						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						AAAACGGAATCGGCACTGGCG	0.512000													4	63					0.150653	0.15181	1	1	0
KANSL1L	151050	broad.mit.edu	37	2	210993811	210993811	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:210993811G>A	ENST00000281772.9	-	3	1437	c.1174C>T	c.(1174-1176)Cta>Tta	p.L392L	KANSL1L_ENST00000452086.1_Silent_p.L392L|KANSL1L_ENST00000418791.1_Silent_p.L392L|KANSL1L_ENST00000457374.1_Silent_p.L392L	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	392																	TTGCATTCTAGGTCTGAAATC	0.408000													17	73					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23775246	23775246	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:23775246G>T	ENST00000354639.3	+	7	968	c.504G>T	c.(502-504)caG>caT	p.Q168H	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.Q191H|STK31_ENST00000428484.1_Missense_Mutation_p.Q168H|STK31_ENST00000433467.2_Missense_Mutation_p.Q191H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	191							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTATTGCTCAGGCTGAGTATG	0.398000													7	92					0.0293803	0.0301461	1	1	0
ZNF292	23036	broad.mit.edu	37	6	87970954	87970954	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:87970954A>G	ENST00000369577.3	+	8	7650	c.7607A>G	c.(7606-7608)gAa>gGa	p.E2536G	ZNF292_ENST00000339907.4_Missense_Mutation_p.E2531G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTTAATAAGGAAAAAAATGTC	0.343000													3	26					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427471	119427471	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:119427471T>G	ENST00000369429.3	-	8	1702	c.1693A>C	c.(1693-1695)Agc>Cgc	p.S565R	TBX15_ENST00000207157.3_Missense_Mutation_p.S459R			Q96SF7	TBX15_HUMAN	T-box 15	565						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ATGTGCATGCTGTGCTCCATC	0.552000													13	81					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31621554	31621554	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:31621554G>T	ENST00000379416.3	-	5	366	c.318C>A	c.(316-318)gcC>gcA	p.A106A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	106					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CGTGGCTTTTGGCAATTCTCT	0.557000													26	78					1.08971e-26	1.45748e-26	1	1	0
SNAP23	8773	broad.mit.edu	37	15	42807447	42807447	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:42807447G>A	ENST00000249647.3	+	5	629	c.161G>A	c.(160-162)cGc>cAc	p.R54H	SNAP23_ENST00000567094.1_Missense_Mutation_p.R54H|SNAP23_ENST00000349777.1_Missense_Mutation_p.R54H|SNAP23_ENST00000564153.1_Missense_Mutation_p.R54H|SNAP23_ENST00000397138.1_Missense_Mutation_p.R54H	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	54	t-SNARE coiled-coil homology 1.				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding			large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		CAACTAAACCGCATAGAAGAA	0.383000													4	48					0	0	1	0	0
NRBF2	29982	broad.mit.edu	37	10	64913381	64913381	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:64913381C>T	ENST00000277746.6	+	4	448	c.267C>T	c.(265-267)aaC>aaT	p.N89N	NRBF2_ENST00000435510.2_Silent_p.N79N	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	89					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding			large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCCAGCAGAACACAGACAAGG	0.512000													7	50					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499746	59499746	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:59499746C>T	ENST00000307144.4	+	1	705	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	203					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GAGTGCATTTCCCAAAAACCG	0.418000													42	84					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169569568	169569568	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:169569568A>G	ENST00000316428.5	-	7	1055	c.998T>C	c.(997-999)gTc>gCc	p.V333A	LRRC31_ENST00000523069.1_Missense_Mutation_p.V333A|LRRC31_ENST00000264676.5_Missense_Mutation_p.V277A	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	333										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TAAAGGAATGACCTGGGCTGT	0.403000													12	53					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052263	44052263	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:44052263T>C	ENST00000306006.6	-	2	1917	c.1265A>G	c.(1264-1266)cAg>cGg	p.Q422R	ZNF239_ENST00000374446.2_Missense_Mutation_p.Q422R|ZNF239_ENST00000426961.1_Missense_Mutation_p.Q422R|ZNF239_ENST00000535642.1_Missense_Mutation_p.Q422R	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATGTACTCTCTGGTGGATGAG	0.522000													6	45					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56371299	56371299	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:56371299C>A	ENST00000370754.5	-	77	19312	c.19313G>T	c.(19312-19314)cGg>cTg	p.R6438L	DST_ENST00000421834.2_Missense_Mutation_p.R4172L|DST_ENST00000370769.4_Missense_Mutation_p.R6260L|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.R6149L|DST_ENST00000446842.2_Missense_Mutation_p.R5934L|DST_ENST00000244364.6_Missense_Mutation_p.R3846L|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.R4063L			Q03001	DYST_HUMAN	dystonin	6258					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTGTCAATCCGGTCTTTCCA	0.413000													3	13					0.004672	0.00489586	1	1	0
RNF20	56254	broad.mit.edu	37	9	104314667	104314667	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:104314667A>G	ENST00000389120.3	+	13	1623	c.1533A>G	c.(1531-1533)acA>acG	p.T511T		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	511					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCTCCCAGACACGCCTGCGTA	0.458000													44	132					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13617056	13617056	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:13617056A>T	ENST00000040738.5	-	3	574	c.439T>A	c.(439-441)Ttc>Atc	p.F147I		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	147							DNA binding										TGAGGTCTGAATGTGTGGTTG	0.438000													15	74					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30497577	30497577	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:30497577G>A	ENST00000375938.4	+	6	609	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	TTLL9_ENST00000535842.1_Missense_Mutation_p.R119Q|TTLL9_ENST00000375922.4_Missense_Mutation_p.R69Q|TTLL9_ENST00000375921.2_Missense_Mutation_p.R69Q|TTLL9_ENST00000310998.4_Missense_Mutation_p.R69Q|TTLL9_ENST00000375934.4_Missense_Mutation_p.R101Q			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	119	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	p.R119Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AACCTGAAGCGGTTCCGGAAG	0.597000													11	19					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148069036	148069036	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:148069036C>T	ENST00000370460.2	+	20	4242	c.3763C>T	c.(3763-3765)Cgg>Tgg	p.R1255W	AFF2_ENST00000370457.5_Missense_Mutation_p.R1220W|AFF2_ENST00000342251.3_Missense_Mutation_p.R1222W|AFF2_ENST00000286437.5_Missense_Mutation_p.R896W	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1255					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAATGTGTTACGGGGCTATGA	0.488000													19	43					0	0	1	0	0
CSNK2A3	283106	broad.mit.edu	37	11	11373918	11373918	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:11373918C>A	ENST00000528848.2	-	1	986	c.749G>T	c.(748-750)gGg>gTg	p.G250V	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		ATCTTCTGTCCCCAGAAACTT	0.418000													19	84					3.1745e-13	4.05745e-13	1	1	0
TMEM11	8834	broad.mit.edu	37	17	21101998	21101998	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:21101998C>T	ENST00000317635.5	-	2	689	c.218G>A	c.(217-219)cGc>cAc	p.R73H	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	73					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						GGTGATCCAGCGGGCTGTCTC	0.602000													3	33					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27136661	27136661	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:27136661G>T	ENST00000354828.3	+	8	1470	c.943_splice	c.e8+1	p.G315_splice	GABPA_ENST00000400075.3_Splice_Site_p.G315_splice	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	315					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GAACAGAACAGGTATTTTTGT	0.323000													12	27					1.08611e-07	1.29044e-07	1	1	0
MED8	112950	broad.mit.edu	37	1	43851674	43851674	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:43851674T>C	ENST00000372457.4	-	6	760	c.717A>G	c.(715-717)gtA>gtG	p.V239V	MED8_ENST00000290663.6_Silent_p.V239V|MED8_ENST00000372455.4_Silent_p.V150V|RP1-92O14.6_ENST00000436713.1_RNA	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	239					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGCCATTTGTACCCCACTGA	0.562000													43	171					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147891398	147891398	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:147891398A>G	ENST00000370460.2	+	4	1520		c.e4-1		AFF2_ENST00000370457.5_Splice_Site|AFF2_ENST00000370458.1_Splice_Site|AFF2_ENST00000342251.3_Splice_Site|AFF2_ENST00000286437.5_Splice_Site	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2						brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTTGTTTCAGGTAAGCCTT	0.343000													6	40					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41556648	41556648	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:41556648A>T	ENST00000263253.7	+	20	4812	c.3593A>T	c.(3592-3594)tAt>tTt	p.Y1198F		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1198					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GCCGACAGGTATCATTTCTGT	0.502000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				10	34					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114538246	114538246	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:114538246A>G	ENST00000374287.3	-	5	335	c.75T>C	c.(73-75)atT>atC	p.I25I	C9orf84_ENST00000318737.4_Silent_p.I25I|C9orf84_ENST00000374283.5_Silent_p.I89I			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	25										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCATTCTTGTAATTGTTTTTC	0.308000													5	23					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113299373	113299373	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:113299373G>T	ENST00000297405.5	-	58	9495	c.9251C>A	c.(9250-9252)aCt>aAt	p.T3084N	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3014N|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2915N|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3044N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3084	Sushi 22.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATGTAACCAGTATCACAAGC	0.458000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			52	38					1.30409e-13	1.67588e-13	1	1	0
OR8H3	390152	broad.mit.edu	37	11	55890409	55890409	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:55890409G>T	ENST00000313472.3	+	1	561	c.561G>T	c.(559-561)ctG>ctT	p.L187L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTTTAGCTCTGTCCTGCACTG	0.423000													33	171					1.45844e-13	1.86813e-13	1	1	0
CDH23	64072	broad.mit.edu	37	10	73544143	73544143	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:73544143C>A	ENST00000224721.6	+	41	5488	c.5483C>A	c.(5482-5484)gCc>gAc	p.A1828D		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1823	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCATCTGTGCCCGTGACCGG	0.632000													6	50					0.217242	0.217611	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7585029	7585029	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:7585029A>G	ENST00000313599.3	-	4	806	c.749T>C	c.(748-750)gTc>gCc	p.V250A	CD163L1_ENST00000416109.2_Missense_Mutation_p.V260A|CD163L1_ENST00000396630.1_Missense_Mutation_p.V250A			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	250	SRCR 2.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGTTAATGTGACATCCTCATT	0.393000													8	40					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118548157	118548157	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:118548157T>C	ENST00000336338.5	-	32	4721	c.4656A>G	c.(4654-4656)tcA>tcG	p.S1552S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1552						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TATTACTGCTTGACTCATGGC	0.418000													6	47					0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142539636	142539636	+	Splice_Site	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:142539636G>A	ENST00000367630.4	+	8	838	c.778_splice	c.e8-1	p.G260_splice	VTA1_ENST00000452973.2_Splice_Site_p.G175_splice|VTA1_ENST00000367621.1_Splice_Site_p.G202_splice	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	260	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TTCTTCTAGGGGATGTTCGTC	0.368000													9	21					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237395535	237395535	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:237395535T>C	ENST00000409907.3	-	5	931	c.657A>G	c.(655-657)cgA>cgG	p.R219R	IQCA1_ENST00000431676.2_Silent_p.R219R|IQCA1_ENST00000309507.5_Silent_p.R215R			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	219	IQ.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GATGGAAACGTCGCCAAACCT	0.338000													3	8					0	0	1	0	0
NDUFS5	4725	broad.mit.edu	37	1	39494495	39494495	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:39494495C>G	ENST00000372969.3	+	2	186	c.99C>G	c.(97-99)tgC>tgG	p.C33W	NDUFS5_ENST00000372967.3_Missense_Mutation_p.C33W	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	33					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.C33C(1)		endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		NADH(DB00157)	CTGGTCGATGCCATGCTTTTG	0.438000													23	44					0	0	1	0	0
LYZL2	119180	broad.mit.edu	37	10	30918551	30918551	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:30918551A>G	ENST00000375318.2	-	1	140	c.84T>C	c.(82-84)tcT>tcC	p.S28S		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TGCCTGCCGCAGAGGCTGACT	0.527000													5	25					0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47272598	47272598	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:47272598C>A	ENST00000377073.3	+	4	1212	c.1126C>A	c.(1126-1128)Cat>Aat	p.H376N		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	376					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCTTGGGATCCATCAGAGAAT	0.413000													8	13					0.000274275	0.000295277	1	1	0
NANOGP1	404635	broad.mit.edu	37	12	8048258	8048258	+	RNA	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:8048258A>T	ENST00000607111.1	+	0	186																				kidney(1)|lung(4)|prostate(1)	6						ACTCAATGATAGATTTCAGAG	0.453000													15	48					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186089238	186089238	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:186089238G>C	ENST00000271588.4	+	80	12419	c.12190G>C	c.(12190-12192)Gct>Cct	p.A4064P	HMCN1_ENST00000367492.2_Missense_Mutation_p.A4064P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4064	Ig-like C2-type 39.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCAGAACCCGGCTGGTACAGC	0.448000													11	38					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470481	10470481	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:10470481A>G	ENST00000382483.3	-	4	1350	c.1127T>C	c.(1126-1128)tTc>tCc	p.F376S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	376					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGCTCTGAGAAGCCCCAAGG	0.677000													6	78					0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41211353	41211353	+	Splice_Site	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:41211353C>G	ENST00000324464.3	-	6	669		c.e6-1		ADCK4_ENST00000243583.6_Intron|ADCK4_ENST00000450541.1_Intron	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4							integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GAACCACCCTCTGGGGAGAGA	0.587000													12	45					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072284	17072284	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:17072284C>G	ENST00000359963.3	-	1	1416	c.1157G>C	c.(1156-1158)cGg>cCg	p.R386P		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	386					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.R386Q(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTCTGCACTCCGCAGCCCCTG	0.567000													5	91					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927589	55927589	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:55927589C>T	ENST00000313447.1	-	1	204	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CCAAGATCAACAAAAGCCAAA	0.408000													16	87					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31197648	31197648	+	Missense_Mutation	SNP	C	C	T	rs137920161		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:31197648C>T	ENST00000362065.4	+	2	1073	c.782C>T	c.(781-783)gCg>gTg	p.A261V	FAN1_ENST00000565466.1_Missense_Mutation_p.A261V|FAN1_ENST00000561594.1_Missense_Mutation_p.A261V|FAN1_ENST00000561607.1_Missense_Mutation_p.A261V	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	261					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TCAGATAATGCGATCATGTTA	0.403000								Direct reversal of damage					6	21					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57721770	57721770	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:57721770G>A	ENST00000269122.3	+	2	450	c.176G>A	c.(175-177)aGt>aAt	p.S59N	CLTC_ENST00000393043.1_Missense_Mutation_p.S59N|CLTC_ENST00000579456.1_Missense_Mutation_p.S59N	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	59	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATGACCCAAGTAATCCAATT	0.418000			T	"""ALK, TFE3"""	"""ALCL, renal """								9	58					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5769176	5769176	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:5769176G>A	ENST00000425013.2	-	7	1329	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	RNF216_ENST00000389902.3_Missense_Mutation_p.R426C	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	369					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATGAAGCAGCGCTGGTCAAGA	0.478000													10	57					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117122002	117122002	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:117122002C>T	ENST00000307564.4	-	11	2525	c.2364G>A	c.(2362-2364)gaG>gaA	p.E788E	AKNA_ENST00000312033.3_Silent_p.E788E|AKNA_ENST00000223791.3_Silent_p.E248E|AKNA_ENST00000374075.5_Silent_p.E707E|AKNA_ENST00000374088.3_Silent_p.E788E	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	788	PEST.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						ccccctcttcctcctcctcct	0.597000													7	33					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90769341	90769341	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:90769341C>A	ENST00000354366.3	-	6	1366	c.1134G>T	c.(1132-1134)caG>caT	p.Q378H	NRDE2_ENST00000357904.3_Missense_Mutation_p.Q147H	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CCACACTGCTCTGGTTGCTCT	0.522000													6	61					3.59834e-05	3.97534e-05	1	1	0
MYBPH	4608	broad.mit.edu	37	1	203140535	203140535	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:203140535C>T	ENST00000255416.4	-	5	826	c.769G>A	c.(769-771)Gca>Aca	p.A257T		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	257	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TCAATGACTGCCTTGGCCTCC	0.622000													8	39					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132546759	132546759	+	Silent	SNP	G	G	A	rs145021676		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:132546759G>A	ENST00000333577.4	+	47	8206	c.8097G>A	c.(8095-8097)acG>acA	p.T2699T	EP400_ENST00000332482.4_Silent_p.T2626T|EP400_ENST00000389562.2_Silent_p.T2662T|EP400_ENST00000330386.6_Silent_p.T2582T|EP400_ENST00000389561.2_Silent_p.T2663T			Q96L91	EP400_HUMAN	E1A binding protein p400	2699	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCATGGCAACGACTCAGGGTG	0.687000													13	45					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432341	20432341	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:20432341A>G	ENST00000377252.3	+	5	1500	c.659A>G	c.(658-660)gAt>gGt	p.D220G	PLXDC2_ENST00000377242.3_Missense_Mutation_p.D171G|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	220						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGATATTTTGATAATGGTATG	0.338000													11	56					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731576	21731576	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:21731576G>T	ENST00000578713.1	+	2	655	c.651G>T	c.(649-651)tcG>tcT	p.S217S	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AGAAAGAGTCGACCCTGCACC	0.527000													7	19					1.26484e-09	1.54957e-09	1	1	0
RC3H2	54542	broad.mit.edu	37	9	125617600	125617600	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:125617600A>C	ENST00000373670.1	-	14	3278	c.2678T>G	c.(2677-2679)aTa>aGa	p.I893R	RC3H2_ENST00000357244.2_Missense_Mutation_p.I893R|RC3H2_ENST00000423239.2_Missense_Mutation_p.I893R			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	893						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AAAGGGAATTATTGGATCTTC	0.423000													7	34					0	0	1	0	0
TGS1	96764	broad.mit.edu	37	8	56715024	56715024	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:56715024A>G	ENST00000260129.5	+	9	2335	c.1858A>G	c.(1858-1860)Aaa>Gaa	p.K620E		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	620	Lys-rich.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AGCTGAAGTgaaaaagaagaa	0.358000													4	50					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825052	4825052	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:4825052C>A	ENST00000380382.1	-	1	795	c.796G>T	c.(796-798)Gtg>Ttg	p.V266L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.V187L			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACTTCAGCACAGCCATGTGC	0.522000													24	48					1.1804e-14	1.52856e-14	1	1	0
KRTAP6-3	337968	broad.mit.edu	37	21	31964831	31964831	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:31964831G>T	ENST00000391624.1	+	1	73	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W		NM_181605.3	NP_853636.3			keratin associated protein 6-3									p.G16W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						CCATGGCTATGggtgctgtgg	0.567000													14	32					6.31663e-08	7.54291e-08	1	1	0
TXNDC16	57544	broad.mit.edu	37	14	52957674	52957674	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:52957674A>G	ENST00000281741.4	-	10	1177	c.806T>C	c.(805-807)cTg>cCg	p.L269P	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	269					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGGTAAGCCCAGTTGGAGATG	0.388000													9	62					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38237797	38237797	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:38237797C>A	ENST00000379705.3	-	6	2301	c.1444G>T	c.(1444-1446)Gct>Tct	p.A482S	TRPC4_ENST00000379681.3_Missense_Mutation_p.A482S|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.A482S|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.A309S|TRPC4_ENST00000338947.5_Missense_Mutation_p.A309S|TRPC4_ENST00000379673.2_Missense_Mutation_p.A482S|TRPC4_ENST00000358477.2_Missense_Mutation_p.A482S|TRPC4_ENST00000447043.1_Missense_Mutation_p.A482S			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	482					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTTGCAATAGCAAATAAAGCC	0.453000													6	28					0.217242	0.217611	1	1	0
TMPRSS12	283471	broad.mit.edu	37	12	51281099	51281099	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:51281099G>T	ENST00000398458.3	+	5	882	c.850G>T	c.(850-852)Gta>Tta	p.V284L	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365.1	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	284	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AAGATTTTTTGTAATGGGAAT	0.403000													10	60					0.0581538	0.0593601	1	1	0
KCNMB1	3779	broad.mit.edu	37	5	169805721	169805721	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:169805721G>C	ENST00000274629.4	-	4	1005	c.563C>G	c.(562-564)gCg>gGg	p.A188G	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	188					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CTTCTGGGCCGCCAGGATGGA	0.617000													12	38					0	0	1	0	0
UNC119B	84747	broad.mit.edu	37	12	121154530	121154530	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:121154530C>T	ENST00000344651.4	+	3	498	c.458C>T	c.(457-459)aCa>aTa	p.T153I		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	153										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCCTCCGGACAGTCGGGGCT	0.542000													31	119					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167750317	167750317	+	Silent	SNP	C	C	T	rs137967362	by1000genomes	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:167750317C>T	ENST00000470487.1	-	9	1856	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A	GOLIM4_ENST00000309027.4_Silent_p.A361A	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	389	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTCAGCACGCGCGTGCCCTT	0.483000													31	115					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	180008389	180008389	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:180008389C>T	ENST00000428443.3	-	9	1095	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	260					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCCTGGTAGCGGGTATATTG	0.438000													7	103					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211456690	211456690	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:211456690T>C	ENST00000233072.5	+	10	1279	c.1083T>C	c.(1081-1083)aaT>aaC	p.N361N	CPS1_ENST00000430249.2_Silent_p.N367N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	361	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATCAAACAAATGAGGTAAATG	0.378000													6	26					0	0	1	0	0
FGF1	2246	broad.mit.edu	37	5	141993670	141993670	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:141993670G>A	ENST00000359370.6	-	2	102	c.23C>T	c.(22-24)aCc>aTc	p.T8I	FGF1_ENST00000360966.5_Missense_Mutation_p.T8I|FGF1_ENST00000407758.1_Missense_Mutation_p.T8I|FGF1_ENST00000337706.2_Missense_Mutation_p.T8I|FGF1_ENST00000494579.1_Intron|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000419524.2_Missense_Mutation_p.T8I|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000378046.1_Missense_Mutation_p.T8I	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	8					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	GGCTGTGAAGGTGGTGATTTC	0.507000													9	43					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149356882	149356882	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:149356882A>G	ENST00000355292.3	-	2	1493	c.1131T>C	c.(1129-1131)acT>acC	p.T377T	NR3C2_ENST00000342437.4_Silent_p.T377T|NR3C2_ENST00000511528.1_Silent_p.T377T|NR3C2_ENST00000358102.3_Silent_p.T377T|NR3C2_ENST00000512865.1_Silent_p.T377T|NR3C2_ENST00000344721.4_Silent_p.T377T			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	377	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CTACTTCCTCAGTCTTAGGAA	0.498000													19	42					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61458629	61458629	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:61458629G>A	ENST00000343916.3	+	16	832	c.829G>A	c.(829-831)Ggc>Agc	p.G277S		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	277	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AGGGTTCCGCGGCCCCAAGGG	0.602000													11	38					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56536135	56536135	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:56536135A>G	ENST00000323777.3	-	5	1823	c.1714T>C	c.(1714-1716)Tcc>Ccc	p.S572P		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	572						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTACCAGGGGACTTTCCTTGT	0.423000													11	65					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141641441	141641441	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:141641441G>T	ENST00000389484.3	-	25	5085	c.4114C>A	c.(4114-4116)Cta>Ata	p.L1372I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1372					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTGCTATTAGTGTAGTTCTT	0.438000										TSP Lung(27;0.18)			43	54					1.02591e-13	1.31982e-13	1	1	0
C17orf77	146723	broad.mit.edu	37	17	72588262	72588262	+	Missense_Mutation	SNP	C	C	T	rs139741461		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:72588262C>T	ENST00000392620.1	+	3	439	c.77C>T	c.(76-78)cCg>cTg	p.P26L	CD300LD_ENST00000375352.1_Intron|C17orf77_ENST00000328023.2_Missense_Mutation_p.P26L	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	26						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CCAAGCCAGCCGCTGTCATTC	0.527000													15	86					0	0	1	0	0
TRAV34	28648	broad.mit.edu	37	14	22675994	22675994	+	RNA	SNP	C	C	A	rs61740299		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:22675994C>A	ENST00000390461.2	+	0	318																											CCCAGCCCAGCCATGCAGGCA	0.502000													9	32					1.12685e-05	1.26986e-05	1	1	0
RNF133	168433	broad.mit.edu	37	7	122338851	122338851	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:122338851T>A	ENST00000340112.2	-	1	359	c.122A>T	c.(121-123)tAt>tTt	p.Y41F	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	41						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TATGTTCATATAAGCCATCCA	0.433000													7	107					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671457	25671457	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:25671457G>A	ENST00000281589.3	+	1	1158	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	374					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGAAGAGCGCCAGGCTTAC	0.493000													5	90					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129835636	129835636	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:129835636G>A	ENST00000421865.2	+	64	9156	c.9107G>A	c.(9106-9108)cGc>cAc	p.R3036H		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3036	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCAAACACCGCATTGAGCTC	0.507000													4	53					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138657025	138657025	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:138657025C>T	ENST00000298480.5	+	12	1258	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	KCNT1_ENST00000490355.2_Missense_Mutation_p.A376V|KCNT1_ENST00000371757.2_Missense_Mutation_p.A395V|KCNT1_ENST00000488444.2_Missense_Mutation_p.A376V|KCNT1_ENST00000263604.3_Missense_Mutation_p.A376V|KCNT1_ENST00000491806.2_Missense_Mutation_p.A362V|KCNT1_ENST00000486577.2_Missense_Mutation_p.A356V|KCNT1_ENST00000487664.1_Missense_Mutation_p.A350V			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	395						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GAGTTCTACGCCCACCCCCGG	0.632000													15	69					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54785244	54785244	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:54785244C>A	ENST00000218436.6	-	8	1292	c.1263G>T	c.(1261-1263)agG>agT	p.R421S		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	421	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AAAGGGATACCCTGTGGCCTA	0.597000													3	4					0.014758	0.0151955	1	1	0
CNTN5	53942	broad.mit.edu	37	11	100221521	100221521	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:100221521T>A	ENST00000524871.1	+	24	3409	c.3119T>A	c.(3118-3120)gTc>gAc	p.V1040D	CNTN5_ENST00000279463.3_Missense_Mutation_p.V1040D|CNTN5_ENST00000528682.1_Missense_Mutation_p.V1040D|CNTN5_ENST00000418526.2_Missense_Mutation_p.V966D|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1040	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GATGCTGGAGTCTATATTATT	0.398000													10	81					0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135205008	135205008	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:135205008C>T	ENST00000357296.3	+	6	1483	c.1427C>T	c.(1426-1428)cCc>cTc	p.P476L	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000278060.5_3'UTR|PAOX_ENST00000480071.2_3'UTR|PAOX_ENST00000368535.2_3'UTR|RP11-108K14.8_ENST00000468317.2_Intron	NM_207128.1	NP_997011.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	0					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		AGGCTGGGACCCTCATTTCTT	0.577000													3	25					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205126496	205126496	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:205126496T>A	ENST00000367162.3	-	10	2287	c.2257A>T	c.(2257-2259)Aca>Tca	p.T753S	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.T753S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	753	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TGCAAACGTGTCTCCAGGGTC	0.488000													18	61					0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179138686	179138686	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:179138686C>T	ENST00000232564.3	-	3	373	c.87G>A	c.(85-87)acG>acA	p.T29T	GNB4_ENST00000468623.1_Silent_p.T29T	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	29					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CCTGAACAAGCGTTGCATCAT	0.303000													5	28					0	0	1	0	0
RAB32	10981	broad.mit.edu	37	6	146870795	146870795	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:146870795A>G	ENST00000367495.3	+	2	625	c.446A>G	c.(445-447)aAg>aGg	p.K149R		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	149					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GACCAGAACAAGGACAGTAGC	0.463000													7	39					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184928	19184928	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:19184928G>T	ENST00000275461.3	-	1	116	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	20					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GCCAGGGACAGGTCTGCGACG	0.672000													4	28					0.014758	0.0151955	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248309002	248309002	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:248309002C>A	ENST00000366476.1	+	1	553	c.553C>A	c.(553-555)Cta>Ata	p.L185I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			CCCTTCCCTACTAATCCTCTC	0.418000													57	406					5.12918e-33	6.87578e-33	1	1	0
OR4A5	81318	broad.mit.edu	37	11	51412112	51412112	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:51412112C>A	ENST00000319760.6	-	1	336	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTGGCCCATGCAACCTTGGAA	0.453000													16	53					0.00316338	0.00332676	1	1	0
TRAPPC11	60684	broad.mit.edu	37	4	184626132	184626132	+	Splice_Site	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:184626132G>C	ENST00000334690.6	+	27	3166	c.2963_splice	c.e27-1	p.R988_splice	TRAPPC11_ENST00000357207.4_Splice_Site_p.R988_splice|TRAPPC11_ENST00000512476.1_Splice_Site_p.R594_splice	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	988																	TCTGCCACAGGACCTCAGCAA	0.408000													7	74					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83195190	83195190	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:83195190C>G	ENST00000398309.2	-	17	2430	c.1960G>C	c.(1960-1962)Gaa>Caa	p.E654Q	DLG2_ENST00000524982.1_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000531015.1_Missense_Mutation_p.E621Q|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.E693Q|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000543673.1_Missense_Mutation_p.E759Q|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000376104.2_Missense_Mutation_p.E759Q|DLG2_ENST00000532653.1_Intron	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	654						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCACTGGTTTCCTGCTCACTC	0.408000													12	64					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81762565	81762565	+	Translation_Start_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:81762565G>T	ENST00000541017.1	-	0	214				PPFIA2_ENST00000407050.4_Missense_Mutation_p.T400N|PPFIA2_ENST00000550584.2_Missense_Mutation_p.T474N|PPFIA2_ENST00000443686.3_Missense_Mutation_p.T375N|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.T321N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.T456N|PPFIA2_ENST00000549396.1_Missense_Mutation_p.T474N|PPFIA2_ENST00000541570.2_Missense_Mutation_p.T41N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.T456N|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T474N|PPFIA2_ENST00000552948.1_Missense_Mutation_p.T474N	NM_001220480.1	NP_001207409.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2											NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATTGGATTCAGTCAGAAGTCT	0.353000													14	70					9.31168e-06	1.05538e-05	1	1	0
ZYX	7791	broad.mit.edu	37	7	143079711	143079711	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:143079711A>T	ENST00000322764.5	+	4	779	c.434A>T	c.(433-435)gAt>gTt	p.D145V	ZYX_ENST00000449423.2_Intron|ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000477373.1_Intron	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	145					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AGCAGTATTGATTTGGAGATC	0.557000													15	137					0	0	1	0	0
AGA	175	broad.mit.edu	37	4	178354388	178354388	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:178354388G>A	ENST00000264595.2	-	8	1047	c.920C>T	c.(919-921)gCc>gTc	p.A307V		NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	307					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AGTCACATTGGCACATATAAC	0.343000													21	83					0	0	1	0	0
MRPL49	740	broad.mit.edu	37	11	64893273	64893273	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:64893273A>G	ENST00000279242.2	+	4	449	c.430A>G	c.(430-432)Aca>Gca	p.T144A	MRPL49_ENST00000534078.1_3'UTR|MRPL49_ENST00000531705.1_Intron|MRPL49_ENST00000524482.1_3'UTR	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	144					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|ovary(1)	2						CAATGAGGTGACAGGTACCCT	0.557000													18	86					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187419915	187419915	+	Translation_Start_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:187419915A>G	ENST00000358241.1	-	1	430	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	1					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GCTGGTACACATGGTCCTGCT	0.532000													8	130					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70152507	70152507	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:70152507G>A	ENST00000335568.5	+	3	910	c.908G>A	c.(907-909)gGt>gAt	p.G303D	UGT2B28_ENST00000511240.1_Missense_Mutation_p.G303D	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	303					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)	GGTGAAAATGGTGTTGTGGTG	0.413000													31	143					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52511720	52511720	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:52511720C>A	ENST00000242839.4	-	18	3951	c.3795G>T	c.(3793-3795)gtG>gtT	p.V1265V	ATP7B_ENST00000400366.3_Silent_p.V1154V|ATP7B_ENST00000417240.2_Silent_p.V476V|ATP7B_ENST00000400370.3_Silent_p.V835V|ATP7B_ENST00000344297.5_Silent_p.V1058V|ATP7B_ENST00000418097.2_Silent_p.V1200V|ATP7B_ENST00000448424.2_Silent_p.V1187V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1265					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCCCATCCCCCACCATGGCGA	0.602000									Wilson disease				11	58					2.10051e-16	2.7411e-16	1	1	0
PGK2	5232	broad.mit.edu	37	6	49754423	49754423	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:49754423C>A	ENST00000304801.3	-	1	630	c.478G>T	c.(478-480)Gtc>Ttc	p.V160F		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	160					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)					TTGACATAGACGTCCCCTAGC	0.488000													15	81					2.31682e-05	2.57886e-05	1	1	0
RAD50	10111	broad.mit.edu	37	5	131923333	131923333	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:131923333A>C	ENST00000378823.3	+	6	1237	c.419A>C	c.(418-420)aAg>aCg	p.K140T	RAD50_ENST00000265335.6_Missense_Mutation_p.K279T|RAD50_ENST00000487596.1_3'UTR	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	279					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATAGCCGAAAGAAGCAAATG	0.303000								Homologous recombination					9	34					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3777990	3777990	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:3777990C>A	ENST00000262367.5	-	31	7867	c.7058G>T	c.(7057-7059)cGg>cTg	p.R2353L	CREBBP_ENST00000382070.3_Missense_Mutation_p.R2315L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2353					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGACTGGGGCCGTGGAGACTG	0.657000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						17	43					9.16793e-09	1.10936e-08	1	1	0
PGBD2	267002	broad.mit.edu	37	1	249211112	249211112	+	Missense_Mutation	SNP	G	G	A	rs146329960		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:249211112G>A	ENST00000539153.1	+	4	575	c.320G>A	c.(319-321)cGc>cAc	p.R107H	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.R110H			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	110								p.R110H(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAACCTCAGCGCATTTGGACC	0.527000													6	62					0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89661895	89661895	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:89661895G>A	ENST00000268720.5	+	16	1778	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Missense_Mutation_p.A475T	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	550	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CGTGGGCAACGCCGACTTCAC	0.677000													7	20					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16077358	16077358	+	Silent	SNP	C	C	A	rs139974161		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:16077358C>A	ENST00000352083.6	-	10	1268	c.1191G>T	c.(1189-1191)acG>acT	p.T397T	SOX6_ENST00000528429.1_Silent_p.T397T|SOX6_ENST00000528252.1_Silent_p.T356T|SOX6_ENST00000316399.6_Silent_p.T397T|SOX6_ENST00000396356.3_Silent_p.T397T|SOX6_ENST00000527619.1_Silent_p.T359T			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	397					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TAGGTGAGACCGTCCCTGCTG	0.502000													11	37					0.010729	0.0111052	1	1	0
DHX29	54505	broad.mit.edu	37	5	54563598	54563598	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:54563598C>A	ENST00000251636.5	-	22	3495	c.3347G>T	c.(3346-3348)gGt>gTt	p.G1116V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1116							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATCTTTTCGACCAATTGGTGT	0.383000													8	35					0.000157383	0.000170993	1	1	0
PKMYT1	9088	broad.mit.edu	37	16	3025598	3025598	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:3025598A>G	ENST00000431515.2	-	4	979	c.594T>C	c.(592-594)tgT>tgC	p.C198C	PKMYT1_ENST00000262300.8_Silent_p.C198C|PKMYT1_ENST00000574730.1_Silent_p.C129C|PKMYT1_ENST00000440027.2_Silent_p.C198C|PKMYT1_ENST00000574385.1_Silent_p.C189C|PKMYT1_ENST00000573944.1_Silent_p.C189C			Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	198	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCCAGGCCTCACAGTGTTGCT	0.706000													5	6					0	0	1	0	0
TRIM16	10626	broad.mit.edu	37	17	15532258	15532258	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:15532258G>A	ENST00000578237.1	-	11	2221	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	TRIM16_ENST00000577886.1_Missense_Mutation_p.R240C|TRIM16_ENST00000416464.2_Missense_Mutation_p.R326C|TRIM16_ENST00000336708.7_Missense_Mutation_p.R456C|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000579219.1_3'UTR					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CAACTGTTGCGCTCCTCCCCT	0.552000													19	46					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55944970	55944970	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:55944970G>A	ENST00000373965.2	-	13	1779	c.1385C>T	c.(1384-1386)aCa>aTa	p.T462I	PCDH15_ENST00000414778.1_Missense_Mutation_p.T460I|PCDH15_ENST00000373957.3_Missense_Mutation_p.T433I|PCDH15_ENST00000395433.1_Missense_Mutation_p.T433I|PCDH15_ENST00000395446.1_Missense_Mutation_p.T455I|PCDH15_ENST00000373955.1_Missense_Mutation_p.T455I|PCDH15_ENST00000395432.2_Missense_Mutation_p.T418I|PCDH15_ENST00000320301.6_Missense_Mutation_p.T455I|PCDH15_ENST00000395445.1_Missense_Mutation_p.T462I|PCDH15_ENST00000395430.1_Missense_Mutation_p.T455I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T455I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.T455I|PCDH15_ENST00000395438.1_Missense_Mutation_p.T455I|PCDH15_ENST00000409834.1_Missense_Mutation_p.T66I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	455	Cadherin 4.				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)				ACCAGTCTGTGTGACGGTGAA	0.388000										HNSCC(58;0.16)			15	56					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12368591	12368591	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:12368591T>G	ENST00000358136.3	+	27	6673	c.6543T>G	c.(6541-6543)gaT>gaG	p.D2181E	VPS13D_ENST00000356315.4_Missense_Mutation_p.D2181E	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2181					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)		CACCAGAGGATAGTAGTGGAG	0.498000													26	100					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113078037	113078037	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:113078037G>T	ENST00000316851.7	+	5	653	c.653G>T	c.(652-654)gGc>gTc	p.G218V	NCAM1_ENST00000401611.2_Missense_Mutation_p.G227V|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.G110V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	228	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCCAACCTCGGCCAGTCCGTC	0.522000													4	42					0.00909568	0.00942281	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48680236	48680236	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:48680236A>C	ENST00000544264.1	-	31	8783	c.8503T>G	c.(8503-8505)Tct>Gct	p.S2835A	CELSR3_ENST00000164024.4_Missense_Mutation_p.S2830A			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2830					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGCTCACAGAGGAGACGGTG	0.652000													14	26					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11735467	11735467	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:11735467T>C	ENST00000381486.2	+	12	2087	c.1787T>C	c.(1786-1788)gTa>gCa	p.V596A	GREB1_ENST00000234142.5_Missense_Mutation_p.V596A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	596						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGGGGAAGGTAGACTCGCTG	0.532000													7	39					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195398322	195398322	+	RNA	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:195398322G>A	ENST00000445430.1	+	0	1088																											GTTAGTCTGCGATATTTTCCT	0.478000													3	15					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2967841	2967841	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:2967841G>T	ENST00000602557.1	-	44	7005	c.6450C>A	c.(6448-6450)aaC>aaA	p.N2150K	CSMD1_ENST00000520002.1_Missense_Mutation_p.N2150K|CSMD1_ENST00000400186.3_Missense_Mutation_p.N2150K|CSMD1_ENST00000602723.1_Missense_Mutation_p.N2150K|CSMD1_ENST00000542608.1_Missense_Mutation_p.N2149K|CSMD1_ENST00000537824.1_Missense_Mutation_p.N2149K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2150	CUB 13.					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)		GAGAAGTTACGTTGTACCCAC	0.478000													4	8					0.00116845	0.00124318	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33015751	33015751	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:33015751T>C	ENST00000280979.4	+	4	2062	c.1892T>C	c.(1891-1893)cTa>cCa	p.L631P	AKAP6_ENST00000557272.1_Missense_Mutation_p.L631P|AKAP6_ENST00000557354.1_Missense_Mutation_p.L631P	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	631					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GATGAATACCTAGCACTGCCC	0.468000													8	87					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129388	149129388	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:149129388T>C	ENST00000247930.4	-	6	2298	c.1975A>G	c.(1975-1977)Acg>Gcg	p.T659A		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGCTCACCCGTGTGCGTGATC	0.632000													20	140					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47777012	47777012	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:47777012A>C	ENST00000359568.5	+	13	2167	c.2060A>C	c.(2059-2061)gAg>gCg	p.E687A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	687	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTTCAGACTGAGCTCAAAGAA	0.478000													22	32					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112324355	112324355	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:112324355T>C	ENST00000206423.3	-	8	3715	c.2762A>G	c.(2761-2763)tAt>tGt	p.Y921C	CCDC80_ENST00000439685.2_Missense_Mutation_p.Y921C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	921										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATGGTAACCATAGCCTGCATA	0.458000													9	36					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105858858	105858858	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:105858858G>T	ENST00000258456.1	+	1	659	c.543G>T	c.(541-543)caG>caT	p.Q181H		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	181						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGGCCCCACAGTGCGTGCTGG	0.692000													7	27					0.00307968	0.00324451	1	1	0
BAIAP2L2	80115	broad.mit.edu	37	22	38503887	38503887	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:38503887C>T	ENST00000381669.3	-	4	392	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.R83Q	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	83	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					GTTCAAGTGCCGCTGGGTGTC	0.622000													14	58					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159520482	159520482	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:159520482C>A	ENST00000307765.5	+	4	542	c.291C>A	c.(289-291)gtC>gtA	p.V97V	RXFP1_ENST00000343542.5_Silent_p.V97V|RXFP1_ENST00000448688.2_Silent_p.V16V|RXFP1_ENST00000470033.1_Silent_p.V64V|RXFP1_ENST00000460056.2_Silent_p.V16V|RXFP1_ENST00000423548.1_Silent_p.V97V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	97	LRRNT.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATTCAGTGGTCGGTTCTGTGC	0.443000													9	30					3.07112e-06	3.50773e-06	1	1	0
GBP6	163351	broad.mit.edu	37	1	89844084	89844084	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:89844084A>T	ENST00000370456.4	+	5	630	c.537A>T	c.(535-537)acA>acT	p.T179T	GBP6_ENST00000535065.1_Silent_p.T49T	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	179							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TTCTTTGGACAGTACGGGATT	0.458000													21	43					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44071069	44071069	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:44071069G>A	ENST00000359947.4	+	18	3684	c.3344G>A	c.(3343-3345)cGc>cAc	p.R1115H	PTPRF_ENST00000372413.3_Missense_Mutation_p.R1106H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1106H|PTPRF_ENST00000422171.2_Missense_Mutation_p.R463H|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1115H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1115					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGACGGCCGCTTCGATCTC	0.662000													13	24					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185964206	185964206	+	Silent	SNP	G	G	A	rs112519612		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:185964206G>A	ENST00000271588.4	+	24	3994	c.3765G>A	c.(3763-3765)acG>acA	p.T1255T	HMCN1_ENST00000367492.2_Silent_p.T1255T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1255	Ig-like C2-type 9.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGAGATAACGCTACATGTCC	0.428000													11	109					0	0	1	0	0
GYG2	8908	broad.mit.edu	37	X	2773172	2773172	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:2773172G>A	ENST00000381163.3	+	6	838	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	GYG2_ENST00000338623.5_Missense_Mutation_p.A186T|GYG2_ENST00000398806.3_Missense_Mutation_p.A155T|GYG2_ENST00000542787.1_Missense_Mutation_p.A186T|GYG2_ENST00000381161.1_3'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	186					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCTACAGCACGCCATGGAACA	0.572000													14	19					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89598357	89598357	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:89598357G>A	ENST00000268704.2	+	8	1048	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	SPG7_ENST00000341316.2_Missense_Mutation_p.A345T	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	345					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CCCAAAGGGCGCACTGCTGCT	0.632000													5	17					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15480436	15480436	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:15480436G>T	ENST00000217246.4	+	8	984	c.589G>T	c.(589-591)Gct>Tct	p.A197S	MACROD2_ENST00000310348.4_Missense_Mutation_p.A197S|MACROD2_ENST00000402914.1_5'UTR	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	197	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CAACGAGCCTGCTGCAGTCAT	0.438000													12	24					2.27111e-07	2.67683e-07	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67082829	67082829	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:67082829C>A	ENST00000284425.2	-	30	4041	c.3867G>T	c.(3865-3867)caG>caT	p.Q1289H	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1289	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AACTTTTCTTCTGGCCTGCAT	0.353000													6	52					3.59834e-05	3.97534e-05	1	1	0
TRBC2	28638	broad.mit.edu	37	7	142499806	142499806	+	RNA	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:142499806G>T	ENST00000466254.1	+	0	423																											CCAGCAAGGGGTCCTGTCTGC	0.567000													12	90					3.07112e-06	3.50773e-06	1	1	0
PDILT	204474	broad.mit.edu	37	16	20386170	20386170	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:20386170G>C	ENST00000302451.4	-	5	903	c.655C>G	c.(655-657)Ctt>Gtt	p.L219V		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	219					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACGCTGTCAAGGGTGACGTGG	0.438000													22	59					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314394	54314394	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:54314394C>A	ENST00000324134.6	-	3	687	c.519G>T	c.(517-519)caG>caT	p.Q173H	NLRP12_ENST00000535162.1_Missense_Mutation_p.Q173H|NLRP12_ENST00000391772.1_Missense_Mutation_p.Q173H|NLRP12_ENST00000391775.3_Missense_Mutation_p.Q173H|NLRP12_ENST00000391773.1_Missense_Mutation_p.Q173H|NLRP12_ENST00000354278.3_Missense_Mutation_p.Q173H|NLRP12_ENST00000351894.4_Missense_Mutation_p.Q173H|NLRP12_ENST00000345770.5_Missense_Mutation_p.Q173H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	173					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAAGCTGCTGCTGGACCTGCA	0.627000													22	49					1.2644e-06	1.46686e-06	1	1	0
OR14I1	401994	broad.mit.edu	37	1	248845570	248845570	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:248845570C>G	ENST00000342623.3	-	1	59	c.36G>C	c.(34-36)ctG>ctC	p.L12L		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AAAACTCCATCAGCAGGAATT	0.443000													23	26					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54802050	54802050	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:54802050C>A	ENST00000391745.1	-	10	1505	c.1189G>T	c.(1189-1191)Gct>Tct	p.A397S	LILRA3_ENST00000391744.3_Missense_Mutation_p.A316S|LILRA3_ENST00000251390.3_Missense_Mutation_p.A380S					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGAATTCAGCCTGGTACTTA	0.572000													33	95					5.60225e-13	7.14499e-13	1	1	0
MTR	4548	broad.mit.edu	37	1	236973836	236973836	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:236973836C>T	ENST00000366577.5	+	5	837	c.443C>T	c.(442-444)cCg>cTg	p.P148L	MTR_ENST00000418145.2_Missense_Mutation_p.P204L|MTR_ENST00000535889.1_Missense_Mutation_p.P148L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	148	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCTCTGGGTCCGACTAATAAG	0.418000													15	109					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101755043	101755043	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:101755043G>A	ENST00000360264.3	+	7	649	c.629G>A	c.(628-630)aGc>aAc	p.S210N	CUX1_ENST00000549414.2_Missense_Mutation_p.S199N|CUX1_ENST00000547394.2_Missense_Mutation_p.S194N|CUX1_ENST00000546411.2_Missense_Mutation_p.S199N|CUX1_ENST00000437600.4_Missense_Mutation_p.S210N|CUX1_ENST00000425244.2_Missense_Mutation_p.S164N|CUX1_ENST00000393824.3_Missense_Mutation_p.S173N|CUX1_ENST00000556210.1_Missense_Mutation_p.S199N|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000550008.2_Missense_Mutation_p.S199N|CUX1_ENST00000292535.7_Missense_Mutation_p.S199N|CUX1_ENST00000292538.4_Missense_Mutation_p.S210N	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	199					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGGTTCAGAGCCTACAAACA	0.562000													4	24					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8517921	8517921	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:8517921G>A	ENST00000381196.4	-	18	2013	c.1470C>T	c.(1468-1470)gtC>gtT	p.V490V	PTPRD_ENST00000397611.3_Silent_p.V487V|PTPRD_ENST00000397617.3_Silent_p.V480V|PTPRD_ENST00000360074.4_Silent_p.V477V|PTPRD_ENST00000358503.5_Silent_p.V477V|PTPRD_ENST00000540109.1_Silent_p.V490V|PTPRD_ENST00000537002.1_Silent_p.V487V|PTPRD_ENST00000486161.1_Silent_p.V490V|PTPRD_ENST00000356435.5_Silent_p.V490V|PTPRD_ENST00000355233.5_Silent_p.V490V|PTPRD_ENST00000397606.3_Silent_p.V480V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	490	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAGGACTTTGACAGAATATG	0.438000										TSP Lung(15;0.13)			17	63					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124250158	124250158	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:124250158A>G	ENST00000276704.4	-	3	288	c.237T>C	c.(235-237)agT>agC	p.S79S	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Silent_p.S47S	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	79							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTCAGAGATACTGGAATACT	0.413000													11	56					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869318	174869318	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:174869318A>T	ENST00000393752.2	-	2	1777	c.785T>A	c.(784-786)aTg>aAg	p.M262K		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	262					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TTTGAAGGACATCTTAAAAGA	0.473000													16	37					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95572020	95572020	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:95572020T>C	ENST00000526495.1	-	21	3379	c.3088A>G	c.(3088-3090)Aaa>Gaa	p.K1030E	DICER1_ENST00000343455.3_Missense_Mutation_p.K1030E|DICER1_ENST00000541352.1_Missense_Mutation_p.K1030E|DICER1_ENST00000556045.1_De_novo_Start_InFrame|DICER1_ENST00000527414.1_Missense_Mutation_p.K1030E|DICER1_ENST00000393063.1_Missense_Mutation_p.K1030E			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1030	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ATTACCTGTTTATTCTGCAGA	0.333000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				11	27					0	0	1	0	0
GSTM2	2946	broad.mit.edu	37	1	110213909	110213909	+	Splice_Site	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:110213909G>A	ENST00000369831.2	+	6	455	c.360_splice	c.e6-1	p.E121_splice	GSTM2_ENST00000241337.4_Splice_Site_p.E121_splice|GSTM2_ENST00000460717.3_Splice_Site_p.E121_splice|GSTM2_ENST00000442650.1_Splice_Site_p.E121_splice|GSTM2_ENST00000369827.3_Splice_Site_p.E119_splice|GSTM2_ENST00000369829.2_Splice_Site_p.E121_splice|GSTM2_ENST00000414179.2_Splice_Site_p.E17_splice					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		TCTGCCTCAGGAGAAACTGAA	0.547000													5	36					0	0	1	0	0
CLK3	1198	broad.mit.edu	37	15	74919983	74919983	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:74919983A>G	ENST00000395066.3	+	9	1921	c.1460A>G	c.(1459-1461)cAc>cGc	p.H487R	CLK3_ENST00000345005.4_Missense_Mutation_p.H339R|CLK3_ENST00000352989.5_Missense_Mutation_p.H316R|CLK3_ENST00000348245.3_3'UTR	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	487	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GCCACCCGTCACTATCGCCCG	0.547000													13	77					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15870868	15870868	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:15870868C>A	ENST00000285670.2	-	8	1192	c.1018G>T	c.(1018-1020)Gat>Tat	p.D340Y	SAMSN1_ENST00000400566.1_Missense_Mutation_p.D272Y|SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.D104Y	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	272					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCTTTTAAATCTTCTAGAGTC	0.303000													17	44					4.14922e-12	5.2297e-12	1	1	0
SV2C	22987	broad.mit.edu	37	5	75427613	75427613	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:75427613A>C	ENST00000502798.2	+	2	480	c.38A>C	c.(37-39)aAg>aCg	p.K13T	SV2C_ENST00000322285.7_Missense_Mutation_p.K13T	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	13	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCACTGATGAAGGGTGCCAAG	0.463000													6	37					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077354	9077354	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9077354T>C	ENST00000397910.4	-	3	10295	c.10092A>G	c.(10090-10092)acA>acG	p.T3364T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3365	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						TATTGGAAGATGTGCTCAGAG	0.473000													39	171					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180693108	180693108	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:180693108T>C	ENST00000357559.4	+	16	1995	c.1611T>C	c.(1609-1611)gtT>gtC	p.V537V	FXR1_ENST00000305586.7_Silent_p.V452V|FXR1_ENST00000468861.1_Intron|FXR1_ENST00000491062.1_Intron|FXR1_ENST00000445140.2_Intron|FXR1_ENST00000480918.1_Silent_p.V524V	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	537					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CAGTCACAGTTGCAGATTATA	0.318000													3	16					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86920183	86920183	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:86920183C>A	ENST00000376238.4	-	4	369	c.320G>T	c.(319-321)gGc>gTc	p.G107V	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G38V	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	107					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TAATAAAATGCCCCAGATGAT	0.368000													5	38					0.00116845	0.00124318	1	1	0
KLHL36	79786	broad.mit.edu	37	16	84695241	84695241	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:84695241C>G	ENST00000564996.1	+	5	1494	c.1353C>G	c.(1351-1353)ggC>ggG	p.G451G	KLHL36_ENST00000258157.5_Silent_p.G388G	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	451										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCTCGGGGGGCCACGACTACC	0.642000													5	44					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20079413	20079413	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:20079413G>T	ENST00000351989.3	+	7	1955	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	DGCR8_ENST00000383024.2_Missense_Mutation_p.G509V|DGCR8_ENST00000407755.1_Missense_Mutation_p.G509V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	509	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AACCCCAACGGGAAATCCGAG	0.473000													11	15					3.07112e-06	3.50773e-06	1	1	0
SLC13A4	26266	broad.mit.edu	37	7	135376328	135376328	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:135376328G>A	ENST00000354042.4	-	12	1975	c.1286C>T	c.(1285-1287)gCg>gTg	p.A429V	C7orf73_ENST00000422968.1_3'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	429						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGGCTTCTTCGCTGGAATGAG	0.473000													5	33					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216363655	216363655	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:216363655G>T	ENST00000366943.2	-	20	4692	c.4306C>A	c.(4306-4308)Cct>Act	p.P1436T	USH2A_ENST00000366942.3_Missense_Mutation_p.P1436T|USH2A_ENST00000307340.3_Missense_Mutation_p.P1436T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1436	Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCTATAAGGTTTCAGTCCT	0.388000										HNSCC(13;0.011)			8	72					3.09899e-07	3.64169e-07	1	1	0
MIR369	442914	broad.mit.edu	37	14	101531997	101531997	+	RNA	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:101531997T>C	ENST00000362155.3	+	0	80					NR_029862.1																						TGGTTGATCTTTTCTCAGTAT	0.512000													8	29					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125631202	125631202	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:125631202G>A	ENST00000504087.1	-	2	1502	c.465C>T	c.(463-465)ctC>ctT	p.L155L	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	155										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CAGGCTGTAAGAGGCTTTGGA	0.443000													9	33					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114269985	114269985	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:114269985A>G	ENST00000393500.3	+	11	1117	c.297A>G	c.(295-297)caA>caG	p.Q99Q	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q199Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q|FOXP2_ENST00000378237.3_Silent_p.Q174Q|FOXP2_ENST00000390668.3_Silent_p.Q198Q|FOXP2_ENST00000393498.2_Silent_p.Q154Q|FOXP2_ENST00000393489.3_Silent_p.Q82Q|FOXP2_ENST00000350908.4_Silent_p.Q174Q|FOXP2_ENST00000393491.3_Silent_p.Q82Q|FOXP2_ENST00000393494.2_Silent_p.Q174Q|FOXP2_ENST00000360232.4_Silent_p.Q174Q			O15409	FOXP2_HUMAN	forkhead box P2	174	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q199Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						aacaacaacaacagcagcaac	0.502000													6	30					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48755289	48755289	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:48755289G>A	ENST00000316623.5	-	42	5669	c.5214C>T	c.(5212-5214)atC>atT	p.I1738I		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1738	TB 7.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGTACTTGGGATGGGACACT	0.428000													22	66					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12315178	12315178	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:12315178A>G	ENST00000261349.4	-	10	2304	c.2228T>C	c.(2227-2229)gTg>gCg	p.V743A	LRP6_ENST00000543091.1_Missense_Mutation_p.V743A	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	743	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTCTTTCCACACCAAAACTTG	0.498000													8	111					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234869468	234869468	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:234869468C>A	ENST00000324695.4	+	12	1451	c.1411C>A	c.(1411-1413)Ccc>Acc	p.P471T	TRPM8_ENST00000433712.2_Missense_Mutation_p.P159T	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	471						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AAAGGACAGACCCAAGTTTGT	0.438000													13	64					2.27111e-07	2.67683e-07	1	1	0
CCDC157	550631	broad.mit.edu	37	22	30771484	30771484	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:30771484C>T	ENST00000405659.1	+	10	2398	c.1689C>T	c.(1687-1689)agC>agT	p.S563S	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Silent_p.S563S			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	563										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GATCCAGCAGCGTGGAATCCC	0.582000													10	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593385	179593385	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:179593385T>A	ENST00000589042.1	-	66	19492	c.19268A>T	c.(19267-19269)aAa>aTa	p.K6423I	TTN_ENST00000591111.1_Missense_Mutation_p.K6106I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K5179I|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6106	Ig-like 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTATTTGTTTCCCGTCTTT	0.403000													7	27					0	0	1	0	0
GSTM1	2944	broad.mit.edu	37	1	110231320	110231320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:110231320G>A	ENST00000309851.5	+	3	192	c.138G>A	c.(136-138)tgG>tgA	p.W46*	GSTM1_ENST00000369819.2_Nonsense_Mutation_p.W46*|GSTM1_ENST00000369823.2_Nonsense_Mutation_p.W46*|GSTM2_ENST00000369831.2_Intron|GSTM1_ENST00000349334.3_Nonsense_Mutation_p.W46*|GSTM1_ENST00000490021.2_3'UTR|GSTM2_ENST00000460717.3_Intron|GSTM1_ENST00000483399.2_Nonsense_Mutation_p.W46*	NM_000561.3	NP_000552.2	P09488	GSTM1_HUMAN	glutathione S-transferase mu 1	46	GST N-terminal.|Glutathione binding.				xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GAAGCCAGTGGCTGAATGAAA	0.562000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				13	13					0	0	1	0	0
YBX3	8531	broad.mit.edu	37	12	10856658	10856658	+	Splice_Site	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:10856658C>T	ENST00000546164.1	-	2	302		c.e2+1		YBX3_ENST00000279550.7_Silent_p.R221R|YBX3_ENST00000228251.4_Silent_p.R290R					Y box binding protein 3																		ACCTACGGTACCTTGGGCGGT	0.488000													12	38					0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563570	228563570	+	Silent	SNP	G	G	A	rs137869730		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:228563570G>A	ENST00000258403.3	-	3	932	c.861C>T	c.(859-861)ttC>ttT	p.F287F	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.F283F	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	287					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CTGCTGTGGCGAAAGCCCACC	0.458000													18	73					0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41831195	41831195	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:41831195C>A	ENST00000301831.4	-	21	2613	c.2151G>T	c.(2149-2151)atG>atT	p.M717I		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	717							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CACAGGACAACATGGCAGCGA	0.378000													16	53					4.7546e-09	5.78289e-09	1	1	0
OR4D9	390199	broad.mit.edu	37	11	59282678	59282678	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:59282678T>C	ENST00000329328.3	+	1	293	c.293T>C	c.(292-294)gTc>gCc	p.V98A		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						AGTGGCTGTGTCACTCAAATG	0.473000													16	95					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100844718	100844718	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:100844718A>G	ENST00000358544.2	+	52	9638	c.9527A>G	c.(9526-9528)gAt>gGt	p.D3176G	VPS13B_ENST00000357162.2_Missense_Mutation_p.D3151G|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3176					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAGTACTGGATGCATCCCTG	0.532000													7	18					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17823602	17823602	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:17823602C>A	ENST00000325083.8	+	19	3389	c.2950C>A	c.(2950-2952)Ctt>Att	p.L984I	PCM1_ENST00000519253.1_Missense_Mutation_p.L984I|PCM1_ENST00000524226.1_Missense_Mutation_p.L985I	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	984					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GCAAGAAAACCTTCGTTGGGT	0.403000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								3	20					0.004672	0.00489586	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433717	73433717	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:73433717G>A	ENST00000263666.4	-	10	2114	c.2000C>T	c.(1999-2001)cCt>cTt	p.P667L	PDZRN3_ENST00000479530.1_Missense_Mutation_p.P384L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P324L|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P324L|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P389L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	667							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGGGCCGCTAGGGTAGTACAG	0.652000													10	41					0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46063155	46063155	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:46063155C>A	ENST00000309285.3	-	2	641	c.285G>T	c.(283-285)tgG>tgT	p.W95C	XCR1_ENST00000542109.1_Missense_Mutation_p.W95C	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	95					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTCCCAGCACCCAGCCCCAGT	0.542000													7	15					0.00198382	0.00209936	1	1	0
COL16A1	1307	broad.mit.edu	37	1	32120447	32120447	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:32120447T>G	ENST00000373672.3	-	68	4819	c.4303A>C	c.(4303-4305)Aat>Cat	p.N1435H	RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000591929.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.N1435H|RP11-73M7.6_ENST00000589462.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1435	Nonhelical region 2 (NC2).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCATCATAATTCACCATGTCT	0.453000													21	98					0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965741	22965741	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:22965741C>A	ENST00000374642.3	+	3	783	c.579C>A	c.(577-579)acC>acA	p.T193T	C1QA_ENST00000402322.1_Silent_p.T193T	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	193	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTGACACCACCAACAAGGGGC	0.582000													7	55					8.12818e-05	8.88832e-05	1	1	0
DMRT1	1761	broad.mit.edu	37	9	968124	968124	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:968124C>A	ENST00000382276.3	+	5	1256	c.1107C>A	c.(1105-1107)atC>atA	p.I369I	DMRT1_ENST00000569227.1_Silent_p.I211I	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	369					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CTCCCGTCATCGAGGAGGACG	0.522000													7	14					2.0095e-06	2.31308e-06	1	1	0
DPY19L2	283417	broad.mit.edu	37	12	63963125	63963125	+	Silent	SNP	G	G	T	rs2942672		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:63963125G>T	ENST00000324472.4	-	21	2188	c.2005C>A	c.(2005-2007)Cgg>Agg	p.R669R	DPY19L2_ENST00000413230.2_Silent_p.R116R	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	669					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATTTTTGTCCGAGCCCtttaa	0.254000													15	58					0.00316338	0.00332676	1	1	0
SAGE1	55511	broad.mit.edu	37	X	134991033	134991033	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:134991033T>G	ENST00000535938.1	+	13	1619	c.1452T>G	c.(1450-1452)atT>atG	p.I484M	SAGE1_ENST00000324447.3_Missense_Mutation_p.I484M|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.I484M	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	484										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATGCTACCATTACTCACAGTG	0.443000													63	24					0	0	1	0	0
OMP	4975	broad.mit.edu	37	11	76814356	76814356	+	Silent	SNP	C	C	T	rs2233550	by1000genomes	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:76814356C>T	ENST00000529803.1	+	1	471	c.471C>T	c.(469-471)tcC>tcT	p.S157S	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000529629.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	157					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCAAGGCCTCCGTGGTTTTTA	0.602000													8	53					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149361207	149361207	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:149361207C>T	ENST00000286298.4	+	3	2319	c.2051C>T	c.(2050-2052)gCt>gTt	p.A684V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	684	STAS.					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)			GTTCTGCTGGCTCAGTGCAAT	0.433000													6	33					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97862899	97862899	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:97862899C>T	ENST00000447648.2	-	11	1805	c.1506G>A	c.(1504-1506)tcG>tcA	p.S502S	TECPR1_ENST00000379795.3_Silent_p.S502S|TECPR1_ENST00000542604.1_Silent_p.S432S			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	502						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCCAGCGGCCGAGTGGCTGG	0.687000													4	15					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099218	168099218	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:168099218C>A	ENST00000409195.1	+	9	1405	c.1316C>A	c.(1315-1317)gCa>gAa	p.A439E	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A217E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A439E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	264					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						TCAACTCTGGCACAAATTAAT	0.443000													18	77					3.32936e-07	3.90077e-07	1	1	0
ASCC3	10973	broad.mit.edu	37	6	101049771	101049771	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:101049771C>T	ENST00000369162.2	-	34	5562	c.5218G>A	c.(5218-5220)Gct>Act	p.A1740T		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTACCACCAGCAATCTCTGCA	0.383000													22	62					0	0	1	0	0
MYNN	55892	broad.mit.edu	37	3	169500335	169500335	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:169500335C>T	ENST00000349841.5	+	5	1966	c.1303C>T	c.(1303-1305)Cgt>Tgt	p.R435C	MYNN_ENST00000544106.1_Missense_Mutation_p.R435C|MYNN_ENST00000356716.4_Missense_Mutation_p.R435C|MYNN_ENST00000392733.1_Missense_Mutation_p.R435C	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	435						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CTATCATGTCCGTAGGCATAC	0.423000													21	84					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94060041	94060041	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:94060041C>A	ENST00000553484.1	+	23	3202	c.3048C>A	c.(3046-3048)gtC>gtA	p.V1016V	UNC79_ENST00000256339.4_Silent_p.V839V|UNC79_ENST00000555664.1_Silent_p.V1016V|UNC79_ENST00000393151.2_Silent_p.V1016V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1016						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGAGGGTCGTCAAATCCGAGT	0.473000													9	95					0.000274275	0.000295277	1	1	0
AGXT	189	broad.mit.edu	37	2	241808422	241808422	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:241808422G>T	ENST00000307503.3	+	1	527	c.140G>T	c.(139-141)gGg>gTg	p.G47V		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	47					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAGATGATCGGGTCCATGAGC	0.642000													8	55					0.00307968	0.00324451	1	1	0
GRIK5	2901	broad.mit.edu	37	19	42558011	42558011	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:42558011C>T	ENST00000262895.3	-	9	1126	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	GRIK5_ENST00000301218.4_Missense_Mutation_p.R376H|GRIK5_ENST00000593562.1_Missense_Mutation_p.R376H	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	376						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R376H(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TTCTAGGATGCGCAGGGTGTA	0.662000													4	26					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118918710	118918710	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:118918710T>G	ENST00000404233.3	-	21	2583	c.2459A>C	c.(2458-2460)gAa>gCa	p.E820A	HYOU1_ENST00000529972.1_Missense_Mutation_p.E758A|HYOU1_ENST00000525859.1_Missense_Mutation_p.E758A	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	820						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AGACAGCCGTTCGGGCCACTT	0.542000													7	25					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424279	47424279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:47424279C>T	ENST00000404338.3	+	1	2347	c.2347C>T	c.(2347-2349)Cga>Tga	p.R783*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	783					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TGTTGATCTGCGAATTGTTAT	0.423000													5	46					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65123341	65123341	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:65123341T>C	ENST00000309880.5	+	2	269	c.62T>C	c.(61-63)cTg>cCg	p.L21P		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	21	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						ATCCAGGTGCTGGAACTCCTG	0.602000													11	40					0	0	1	0	0
CHEK1	1111	broad.mit.edu	37	11	125525121	125525121	+	Splice_Site	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:125525121G>A	ENST00000534070.1	+	13	1592	c.1335_splice	c.e13-1	p.G446_splice	CHEK1_ENST00000428830.2_Splice_Site_p.G446_splice|CHEK1_ENST00000438015.1_Splice_Site_p.G446_splice|CHEK1_ENST00000524737.1_Splice_Site_p.G446_splice|CHEK1_ENST00000544373.1_Splice_Site_p.G412_splice|CHEK1_ENST00000427383.2_Splice_Site_p.G462_splice|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000278916.3_Splice_Site_p.G402_splice	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	446	Autoinhibitory region.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		CTAATATAGGGTGATGGATTG	0.353000								Other conserved DNA damage response genes					10	34					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200960786	200960786	+	Splice_Site	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:200960786T>A	ENST00000332129.2	-	17	2769	c.2454_splice	c.e17+1	p.E818_splice	KIF21B_ENST00000461742.2_Splice_Site_p.E818_splice|KIF21B_ENST00000360529.5_Splice_Site_p.E818_splice|KIF21B_ENST00000422435.2_Splice_Site_p.E818_splice	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	818					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGAGCTCACCTCCTGGGTCTT	0.607000													4	28					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80497209	80497209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:80497209C>T	ENST00000265080.4	+	19	2921	c.2854C>T	c.(2854-2856)Cga>Tga	p.R952*		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	952					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.R952*(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGAAGTTTTGCGAGACCCAGA	0.403000													18	55					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138555917	138555917	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:138555917T>C	ENST00000440172.1	-	13	4585	c.4537A>G	c.(4537-4539)Aaa>Gaa	p.K1513E	KIAA1549_ENST00000242365.4_Missense_Mutation_p.K1463E|KIAA1549_ENST00000422774.1_Missense_Mutation_p.K1513E	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1513						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTGTTGATTTTATTGCTTTCC	0.547000			O	BRAF	pilocytic astrocytoma								4	26					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48945587	48945587	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:48945587G>A	ENST00000263269.3	+	12	2709	c.2621G>A	c.(2620-2622)cGg>cAg	p.R874Q		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	874						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TGGCGCCTGCGGCACTGCCTG	0.672000													19	62					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99661862	99661862	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:99661862G>T	ENST00000373034.4	-	1	3409	c.1734C>A	c.(1732-1734)ccC>ccA	p.P578P	PCDH19_ENST00000420881.2_Silent_p.P578P|PCDH19_ENST00000255531.7_Silent_p.P578P	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	578	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CAGAGTTGCGGGGTATGTAGA	0.582000													8	12					0.000274275	0.000295277	1	1	0
LINGO4	339398	broad.mit.edu	37	1	151774831	151774831	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:151774831C>T	ENST00000368820.3	-	2	1287	c.350G>A	c.(349-351)gGc>gAc	p.G117D		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	117						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGCCGATTGCCCTGCAGCCT	0.582000													8	73					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52825838	52825838	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:52825838G>T	ENST00000273283.2	+	22	2671	c.2647G>T	c.(2647-2649)Gcc>Tcc	p.A883S	ITIH1_ENST00000540715.1_Missense_Mutation_p.A741S|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000537050.1_Missense_Mutation_p.A595S|ITIH1_ENST00000405128.3_Missense_Mutation_p.A249S	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	883	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTGGCATGGGGCCGAGGTGTC	0.577000													4	20					0.00909568	0.00942281	1	1	0
TMTC1	83857	broad.mit.edu	37	12	29709899	29709899	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:29709899G>A	ENST00000256062.5	-	10	1716	c.1243C>T	c.(1243-1245)Ctt>Ttt	p.L415F	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.L477F|TMTC1_ENST00000552618.1_Missense_Mutation_p.L547F|TMTC1_ENST00000539277.1_Missense_Mutation_p.L523F|TMTC1_ENST00000551659.1_Missense_Mutation_p.L585F	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	523						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGTGTTCCAAGGTTGTTGAGC	0.458000													4	68					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561464	11561464	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:11561464G>A	ENST00000294484.6	+	2	553	c.415G>A	c.(415-417)Gat>Aat	p.D139N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.D139N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	139					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAACCGGCGCGATTTGGCCGA	0.632000													13	26					0	0	1	0	0
ASB18	401036	broad.mit.edu	37	2	237103582	237103582	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:237103582G>T	ENST00000330842.6	-	5	1341	c.1247C>A	c.(1246-1248)cCc>cAc	p.P416H	AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000409749.3_Missense_Mutation_p.P445H|AC079135.1_ENST00000415226.1_RNA			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	445	SOCS box.				intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GGGTAACAGGGGGATGAGGTC	0.537000													5	16					1.23904e-05	1.38834e-05	1	1	0
SLC6A2	6530	broad.mit.edu	37	16	55690629	55690629	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:55690629C>T	ENST00000379906.2	+	1	278	c.23C>T	c.(22-24)cCg>cTg	p.P8L	SLC6A2_ENST00000568943.1_Missense_Mutation_p.P8L|SLC6A2_ENST00000219833.8_Missense_Mutation_p.P8L|SLC6A2_ENST00000566163.1_Missense_Mutation_p.P8L|SLC6A2_ENST00000561820.1_Missense_Mutation_p.P8L|SLC6A2_ENST00000414754.3_Missense_Mutation_p.P8L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	8					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGGATGAACCCGCAGGTGCAG	0.652000													8	23					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93108804	93108804	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:93108804G>T	ENST00000359558.2	-	5	420	c.121C>A	c.(121-123)Ctt>Att	p.L41I	CALCR_ENST00000421592.1_Missense_Mutation_p.L23I|CALCR_ENST00000394441.1_Missense_Mutation_p.L23I|CALCR_ENST00000426151.1_Missense_Mutation_p.L23I|CALCR_ENST00000360249.4_Missense_Mutation_p.L23I	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	23					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	AAGGCAGGAAGAATTGGGGTT	0.378000													23	94					1.22574e-08	1.48167e-08	1	1	0
GPX6	257202	broad.mit.edu	37	6	28473527	28473527	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:28473527C>A	ENST00000361902.1	-	4	461	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	138					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TTCACATCCCCTTTCTCAAAG	0.443000													6	89					8.12818e-05	8.88832e-05	1	1	0
NKAIN3	286183	broad.mit.edu	37	8	63492148	63492148	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:63492148G>T	ENST00000523211.1	+	2	237	c.105G>T	c.(103-105)gcG>gcT	p.A35A	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Silent_p.A35A	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	35						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TCCAGTGGGCGCCTATTCTTG	0.378000													30	59					3.00307e-07	3.53601e-07	1	1	0
JUP	3728	broad.mit.edu	37	17	39776803	39776803	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:39776803G>T	ENST00000540235.1	-	10	1665	c.1666C>A	c.(1666-1668)Cag>Aag	p.Q556K	KRT17_ENST00000311208.8_Missense_Mutation_p.Q397K			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TTCTTGTACTGAGTCAGGCTG	0.592000													4	38					0.00909568	0.00942281	1	1	0
UBE3B	89910	broad.mit.edu	37	12	109972579	109972579	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:109972579C>G	ENST00000342494.3	+	28	3794	c.3199C>G	c.(3199-3201)Ctc>Gtc	p.L1067V	UBE3B_ENST00000434735.2_Missense_Mutation_p.L1067V	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1067	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGGCTTTGAACTCTCCTAGCT	0.607000													6	33					0	0	1	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27501077	27501077	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:27501077C>G	ENST00000296097.3	+	5	815	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V	DNAJC5G_ENST00000404433.1_Missense_Mutation_p.L117V|DNAJC5G_ENST00000406962.1_Silent_p.L45L|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.L133V	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	133	Cys-rich.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTGTACTCTGCTCACttg	0.473000													13	23					0	0	1	0	0
LOC286238	286238	broad.mit.edu	37	9	91262457	91262457	+	RNA	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:91262457C>A	ENST00000418343.2	-	0	294																											AATGAGTTATCATCTCTCCTG	0.438000													8	46					0.000157383	0.000170993	1	1	0
DNAJB2	3300	broad.mit.edu	37	2	220146675	220146675	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:220146675C>A	ENST00000336576.5	+	5	532	c.244C>A	c.(244-246)Cgg>Agg	p.R82R	DNAJB2_ENST00000463463.1_3'UTR|DNAJB2_ENST00000392086.4_Silent_p.R82R	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	82					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCCCATCTCGGGCAGAAGC	0.612000													9	22					1.12685e-05	1.26986e-05	1	1	0
GFI1B	8328	broad.mit.edu	37	9	135864570	135864570	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:135864570G>A	ENST00000339463.3	+	9	1452	c.633G>A	c.(631-633)acG>acA	p.T211T	GFI1B_ENST00000372123.1_Intron|GFI1B_ENST00000450530.1_Silent_p.T211T|GFI1B_ENST00000372122.1_Silent_p.T211T|GFI1B_ENST00000372124.1_Intron|GFI1B_ENST00000534944.1_Intron			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	211	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		AGCAGCACACGCACGTCCACT	0.672000													7	32					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173891410	173891410	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:173891410C>T	ENST00000264111.6	+	24	2548	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	RAPGEF4_ENST00000535187.1_Silent_p.F568F|RAPGEF4_ENST00000540783.1_Silent_p.F635F|RAPGEF4_ENST00000539331.1_Silent_p.F635F|RAPGEF4_ENST00000409036.1_Silent_p.F788F|RAPGEF4_ENST00000397081.3_Silent_p.F788F|RAPGEF4_ENST00000397087.3_Silent_p.F644F|RAPGEF4_ENST00000538974.1_Silent_p.F617F			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	788	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GGGAACTCTTCAACTGCGTGC	0.428000													14	50					0	0	1	0	0
CST11	140880	broad.mit.edu	37	20	23433365	23433365	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:23433365C>T	ENST00000377009.3	-	1	117	c.84G>A	c.(82-84)aaG>aaA	p.K28K	CST11_ENST00000377007.3_Silent_p.K28K	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	28					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GAAAGGTTTTCTTCCTTGCTT	0.507000													27	77					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19381855	19381855	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:19381855C>A	ENST00000389363.4	-	2	247	c.175G>T	c.(175-177)Gtc>Ttc	p.V59F	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_Intron	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	59						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			TCATAGGAGACCTCGCCATGG	0.587000													28	56					9.80776e-20	1.29854e-19	1	1	0
LASP1	3927	broad.mit.edu	37	17	37074986	37074986	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:37074986C>T	ENST00000318008.6	+	7	1072	c.741C>T	c.(739-741)acC>acT	p.T247T	LASP1_ENST00000433206.2_Silent_p.T191T|LASP1_ENST00000435347.3_Silent_p.T247T	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	247	SH3.					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						TGGAGCGCACCGGCGACACGG	0.662000			T	MLL	AML								11	58					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209641	140209641	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:140209641T>C	ENST00000529310.1	+	1	2079	c.1965T>C	c.(1963-1965)ggT>ggC	p.G655G	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACCACGGTGAGCCGGCGC	0.692000													3	32					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124382167	124382167	+	Missense_Mutation	SNP	A	A	T	rs149531312	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:124382167A>T	ENST00000287394.5	-	7	932	c.825T>A	c.(823-825)gaT>gaA	p.D275E	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	275	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cttcatcatcatcatcatcat	0.378000													8	32					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278693	114278693	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:114278693G>T	ENST00000357077.4	+	38	8972	c.8919G>T	c.(8917-8919)gtG>gtT	p.V2973V	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.V2940V|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2940					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACGTTGTAGTGGCAAGCTCCT	0.413000													49	116					4.01344e-20	5.33169e-20	1	1	0
PAX3	5077	broad.mit.edu	37	2	223085040	223085040	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:223085040G>T	ENST00000350526.4	-	7	1128	c.992C>A	c.(991-993)cCt>cAt	p.P331H	PAX3_ENST00000392070.2_Missense_Mutation_p.P331H|PAX3_ENST00000336840.6_Missense_Mutation_p.P331H|PAX3_ENST00000409551.3_Missense_Mutation_p.P330H|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000344493.4_Missense_Mutation_p.P331H|PAX3_ENST00000392069.2_Missense_Mutation_p.P331H	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	331					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCGGTTGAGGTCTGTGAAC	0.498000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						11	44					5.16669e-11	6.45699e-11	1	1	0
PTPRC	5788	broad.mit.edu	37	1	198677283	198677283	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:198677283A>T	ENST00000367376.2	+	10	1091	c.920A>T	c.(919-921)cAt>cTt	p.H307L	PTPRC_ENST00000442510.2_Missense_Mutation_p.H309L|PTPRC_ENST00000594404.1_Missense_Mutation_p.H146L|PTPRC_ENST00000348564.6_Missense_Mutation_p.H148L|PTPRC_ENST00000352140.3_Missense_Mutation_p.H259L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	307					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTCAGTTACATGATTGTACA	0.303000													8	34					0	0	1	0	0
ZNF764	92595	broad.mit.edu	37	16	30569377	30569377	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:30569377A>G	ENST00000395091.2	-	1	442	c.127T>C	c.(127-129)Ttg>Ctg	p.L43L	AC002310.13_ENST00000568114.1_Silent_p.L43L|ZNF764_ENST00000252797.2_Silent_p.L43L			Q96H86	ZN764_HUMAN	zinc finger protein 764	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GCTGGCCGCAAGCAGCCCCAC	0.716000													3	7					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40074364	40074364	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:40074364G>A	ENST00000373233.3	-	25	3995	c.3818C>T	c.(3817-3819)cCa>cTa	p.P1273L	CHD6_ENST00000309279.7_Missense_Mutation_p.P756L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1273					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAGTCCACTGGGATCTCCAT	0.498000													23	32					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439835	75439835	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:75439835G>T	ENST00000526712.1	+	4	1178	c.404_splice	c.e4-1	p.G135_splice	MOGAT2_ENST00000198801.5_Splice_Site_p.G217_splice			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	217					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TTGTCTCCAGGGCACCCCTGG	0.532000													9	57					2.17888e-05	2.42989e-05	1	1	0
ZNF764	92595	broad.mit.edu	37	16	30569397	30569397	+	Missense_Mutation	SNP	C	C	G	rs139523326		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:30569397C>G	ENST00000395091.2	-	1	422	c.107G>C	c.(106-108)tGc>tCc	p.C36S	AC002310.13_ENST00000568114.1_Missense_Mutation_p.C36S|ZNF764_ENST00000252797.2_Missense_Mutation_p.C36S			Q96H86	ZN764_HUMAN	zinc finger protein 764	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						CTCCTCCCGGCAGAAGTACAC	0.731000													4	3					0	0	1	0	0
CLRN1	7401	broad.mit.edu	37	3	150659548	150659548	+	Splice_Site	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:150659548A>C	ENST00000327047.1	-	2	544	c.253_splice	c.e2-1	p.F85_splice	CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000295911.2_Splice_Site_p.V9_splice|CLRN1_ENST00000328863.4_Splice_Site_p.F85_splice|RP11-166N6.2_ENST00000469268.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	85					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATCTGGAAAAACTGAAGATAA	0.368000													5	16					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090244	238090244	+	RNA	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:238090244C>A	ENST00000450451.1	+	0	1750					NR_027247.2																						TTGGGCACCCCCGGCACAAGA	0.602000													13	21					4.3838e-07	5.12601e-07	1	1	0
C9orf131	138724	broad.mit.edu	37	9	35044946	35044946	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:35044946A>G	ENST00000312292.5	+	2	2367	c.2320A>G	c.(2320-2322)Acc>Gcc	p.T774A	C9orf131_ENST00000354479.5_Missense_Mutation_p.T701A|C9orf131_ENST00000421362.2_Missense_Mutation_p.T726A	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	774										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGAGTTGCTCACCCATCCTGG	0.592000													22	126					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87653587	87653587	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:87653587T>G	ENST00000436978.1	+	11	2123	c.1643T>G	c.(1642-1644)aTt>aGt	p.I548S	PTPN13_ENST00000316707.6_Missense_Mutation_p.I548S|PTPN13_ENST00000411767.2_Missense_Mutation_p.I548S|PTPN13_ENST00000511467.1_Missense_Mutation_p.I548S|PTPN13_ENST00000427191.2_Missense_Mutation_p.I548S	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	548						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAAATGACAATTGAACCATTT	0.294000													2	4					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156875187	156875187	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:156875187G>T	ENST00000338302.3	+	5	503	c.278G>T	c.(277-279)gGc>gTc	p.G93V	PEAR1_ENST00000292357.7_Missense_Mutation_p.G93V			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	93	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCTGCCATGGCTTCTATGAG	0.632000													8	34					3.86212e-05	4.25879e-05	1	1	0
BZW2	28969	broad.mit.edu	37	7	16744220	16744220	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:16744220A>G	ENST00000433922.2	+	11	1335	c.1157A>G	c.(1156-1158)cAt>cGt	p.H386R	BZW2_ENST00000407633.1_Missense_Mutation_p.H192R|BZW2_ENST00000405202.1_Missense_Mutation_p.H310R|BZW2_ENST00000258761.3_Missense_Mutation_p.H386R|AC073333.8_ENST00000418907.1_RNA	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	386	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AAGGAAGCACATGTTGCTAAA	0.328000													6	20					0	0	1	0	0
USE1	55850	broad.mit.edu	37	19	17330029	17330029	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:17330029G>A	ENST00000445667.2	+	7	490	c.430G>A	c.(430-432)Gca>Aca	p.A144T	USE1_ENST00000379776.4_Intron|USE1_ENST00000263897.5_Missense_Mutation_p.A144T|USE1_ENST00000596136.1_Intron			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	144					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						CAGTGGAGTGGCAGGGTCCCA	0.512000													7	18					0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167042734	167042734	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:167042734T>G	ENST00000367868.3	-	2	429	c.86A>C	c.(85-87)gAc>gCc	p.D29A	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	29	Ig-like V-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCGAAGAACGTCCTGCGGAGT	0.547000													6	43					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480049	142480049	+	RNA	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:142480049G>A	ENST00000603901.1	+	0	181					NR_001296.3																						GGTGGTGTCAGCAGGTCACTG	0.577000													14	68					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119234547	119234547	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:119234547C>T	ENST00000296498.3	-	7	1580	c.1298G>A	c.(1297-1299)gGt>gAt	p.G433D		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	433	SRCR 3.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TGCTTGTTTACCATATCTGTG	0.413000													11	29					0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1987200	1987200	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:1987200T>G	ENST00000255608.4	-	7	1250	c.1234A>C	c.(1234-1236)Atc>Ctc	p.I412L		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	412						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCGTGGATGGATCCATAC	0.597000													4	29					0	0	1	0	0
IL1RAP	3556	broad.mit.edu	37	3	190322124	190322124	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:190322124G>A	ENST00000412504.2	+	3	524	c.272G>A	c.(271-273)cGc>cAc	p.R91H	IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R91H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R91H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R91H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R91H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R91H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.R91H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R91H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	91	Ig-like C2-type 1.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CCCGAGAACCGCATTAGTAAG	0.527000													11	39					0	0	1	0	0
RPRD1A	55197	broad.mit.edu	37	18	33610849	33610849	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:33610849C>T	ENST00000399022.4	-	4	579	c.408G>A	c.(406-408)agG>agA	p.R136R	RPRD1A_ENST00000590898.1_Silent_p.R100R|RPRD1A_ENST00000357384.4_Silent_p.R136R|RPRD1A_ENST00000337059.5_Silent_p.R100R|RPRD1A_ENST00000588737.1_Silent_p.R100R|RPRD1A_ENST00000319040.6_Silent_p.R136R	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	136										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						AAGTTCGCTTCCTAGGCTTCT	0.353000													9	195					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147183130	147183130	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:147183130A>G	ENST00000361727.3	+	11	2290	c.1774A>G	c.(1774-1776)Aac>Gac	p.N592D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	592	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CACCTGCCACAACTGTGAGTG	0.453000										HNSCC(39;0.1)			8	42					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71719744	71719744	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:71719744T>C	ENST00000393695.3	-	20	5537	c.5206A>G	c.(5206-5208)Agt>Ggt	p.S1736G	NUMA1_ENST00000358965.6_Missense_Mutation_p.S1722G|NUMA1_ENST00000351960.6_Missense_Mutation_p.S600G	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1736					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGGTGATACTGAGTGGGGTC	0.522000			T	RARA	APL								24	28					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766839	77766839	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:77766839C>A	ENST00000521891.2	+	10	8130	c.7682C>A	c.(7681-7683)cCt>cAt	p.P2561H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2535H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2516H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2516H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2516						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAATGCCCCCTCAGGCCAGT	0.488000										HNSCC(33;0.089)			17	70					1.02788e-11	1.29142e-11	1	1	0
AOX1	316	broad.mit.edu	37	2	201507471	201507471	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:201507471A>G	ENST00000374700.2	+	25	3035	c.2794A>G	c.(2794-2796)Acc>Gcc	p.T932A	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	932					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGCGCTGATCACCGAATCTTG	0.493000													13	41					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148869642	148869642	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:148869642T>G	ENST00000367467.3	+	20	4167	c.3692T>G	c.(3691-3693)cTc>cGc	p.L1231R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1231	SAM 2.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATAAGAAAGCTCCTATCTGCA	0.587000													17	48					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24231827	24231827	+	Splice_Site	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:24231827T>C	ENST00000396671.2	-	5	371		c.e5-2		THRB_ENST00000416420.1_Splice_Site|THRB_ENST00000356447.4_Splice_Site	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGCCATTTTCTAAAGGGTTGA	0.463000													16	63					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627130	187627130	+	Missense_Mutation	SNP	C	C	G	rs142301733	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:187627130C>G	ENST00000304698.5	+	8	2264	c.2061C>G	c.(2059-2061)caC>caG	p.H687Q		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	687						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAGTGAGGCACTCCTTTATAG	0.522000													21	35					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140057044	140057044	+	Splice_Site	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:140057044C>T	ENST00000371561.3	+	14	2963	c.1864_splice	c.e14-1	p.G622_splice	GRIN1_ENST00000371559.4_Splice_Site_p.G622_splice|GRIN1_ENST00000350902.5_Splice_Site_p.G622_splice|GRIN1_ENST00000315048.3_Splice_Site_p.G622_splice|GRIN1_ENST00000371560.3_Splice_Site_p.G643_splice|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Splice_Site_p.G643_splice|GRIN1_ENST00000371553.3_Splice_Site_p.G643_splice|GRIN1_ENST00000371555.4_Splice_Site_p.G643_splice|GRIN1_ENST00000371550.4_Splice_Site_p.G622_splice	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	622					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CGCCCACAGGCGCCCCCAGAA	0.706000													3	14					0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6222511	6222511	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:6222511G>A	ENST00000252674.7	-	6	894	c.731C>T	c.(730-732)gCg>gTg	p.A244V		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	244					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GGGCGGTGGCGCCTTCTCCTC	0.657000			T	MLL	AL								6	14					0	0	1	0	0
ARHGEF35	445328	broad.mit.edu	37	7	143884172	143884172	+	Silent	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:143884172A>C	ENST00000378115.2	-	2	1434	c.1305T>G	c.(1303-1305)acT>acG	p.T435T	ARHGEF35_ENST00000543357.1_Silent_p.T435T	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	435										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						ACTCTGTCTGAGTCCCGGGAA	0.572000													3	28					0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724634	138724634	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:138724634G>A	ENST00000383163.2	-	1	476	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	159										endometrium(3)|kidney(1)|lung(7)	11						CGGGGTCCGCGTCCTCCTCGT	0.642000													5	22					0	0	1	0	0
NRF1	4899	broad.mit.edu	37	7	129394889	129394889	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:129394889G>C	ENST00000393232.1	+	11	1497	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	NRF1_ENST00000311967.2_Missense_Mutation_p.Q479H|NRF1_ENST00000353868.4_Missense_Mutation_p.Q394H|NRF1_ENST00000539636.1_Missense_Mutation_p.Q299H|NRF1_ENST00000393231.3_Missense_Mutation_p.Q479H|NRF1_ENST00000223190.4_Missense_Mutation_p.Q460H|NRF1_ENST00000393230.2_Missense_Mutation_p.Q460H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	460	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GCATGTACCAGACTGTGGTGA	0.627000													11	40					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145440510	145440510	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:145440510T>C	ENST00000369317.4	+	5	1150	c.816T>C	c.(814-816)gtT>gtC	p.V272V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	272					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCTTCGAGTTGAATATTCCT	0.483000													27	138					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25668743	25668743	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:25668743C>A	ENST00000435706.2	-	16	2137	c.1936G>T	c.(1936-1938)Gat>Tat	p.D646Y	TOP2B_ENST00000264331.4_Missense_Mutation_p.D651Y			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	651					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CTTTCCATATCAGCAAAATAT	0.333000													23	66					2.39556e-15	3.10897e-15	1	1	0
GLI3	2737	broad.mit.edu	37	7	42005962	42005962	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:42005962C>A	ENST00000395925.3	-	15	2793	c.2709G>T	c.(2707-2709)tcG>tcT	p.S903S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	903					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGGAGCGGCGCGAGGCGTCGG	0.721000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				4	22					5.9392e-07	6.91735e-07	1	1	0
TTLL4	9654	broad.mit.edu	37	2	219605282	219605282	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:219605282A>G	ENST00000392102.1	+	5	1976	c.1636A>G	c.(1636-1638)Agc>Ggc	p.S546G	TTLL4_ENST00000442769.1_Missense_Mutation_p.S546G|TTLL4_ENST00000258398.4_Missense_Mutation_p.S546G|TTLL4_ENST00000457313.1_Missense_Mutation_p.S381G	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	546					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGTCTCCCCCAGCGAATCGGT	0.438000													5	91					0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214514	11214514	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:11214514C>T	ENST00000533467.1	-	1	379	c.380G>A	c.(379-381)aGt>aAt	p.S127N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	127					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CAGAACAACACTCTTAACTCT	0.353000													5	93					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825054	4825054	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:4825054G>C	ENST00000380382.1	-	1	793	c.794C>G	c.(793-795)gCt>gGt	p.A265G	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A186G			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCAGCACAGCCATGTGCTC	0.522000													24	50					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57725762	57725762	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:57725762G>T	ENST00000269122.3	+	4	955	c.681_splice	c.e4+1	p.K227_splice	CLTC_ENST00000393043.1_Splice_Site_p.K227_splice|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	227	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTGGAGGGAAGGTAAGTTTTG	0.383000			T	"""ALK, TFE3"""	"""ALCL, renal """								18	91					1.67942e-08	2.02593e-08	1	1	0
DCK	1633	broad.mit.edu	37	4	71889417	71889417	+	Silent	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:71889417T>G	ENST00000286648.5	+	4	940	c.543T>G	c.(541-543)acT>acG	p.T181T	DCK_ENST00000504952.1_Silent_p.T181T|DCK_ENST00000504730.1_Silent_p.T181T	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	181					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TTCAAGCCACTCCAGAGGTAA	0.343000													6	27					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82409430	82409430	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:82409430T>C	ENST00000370728.1	+	8	1820	c.1175T>C	c.(1174-1176)tTt>tCt	p.F392S	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.F392S|LPHN2_ENST00000370717.2_Missense_Mutation_p.F392S|LPHN2_ENST00000370721.1_Missense_Mutation_p.F396S|LPHN2_ENST00000370713.1_Missense_Mutation_p.F392S|LPHN2_ENST00000394879.1_Missense_Mutation_p.F392S|LPHN2_ENST00000370723.1_Missense_Mutation_p.F392S|LPHN2_ENST00000370725.1_Missense_Mutation_p.F392S|LPHN2_ENST00000370715.1_Missense_Mutation_p.F392S|LPHN2_ENST00000370727.1_Missense_Mutation_p.F392S|LPHN2_ENST00000359929.3_Missense_Mutation_p.F392S|LPHN2_ENST00000335786.5_Missense_Mutation_p.F392S|LPHN2_ENST00000370730.1_Missense_Mutation_p.F392S|LPHN2_ENST00000271029.4_Missense_Mutation_p.F392S			O95490	LPHN2_HUMAN	latrophilin 2	392	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCTCTGGAGTTTGGTCCACCT	0.358000													20	51					0	0	1	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36233696	36233696	+	Nonsense_Mutation	SNP	G	G	A	rs146316690		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:36233696G>A	ENST00000292879.5	-	6	465	c.412C>T	c.(412-414)Cga>Tga	p.R138*	U2AF1L4_ENST00000412391.2_Missense_Mutation_p.P196L|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.P157L|AD000671.6_ENST00000589807.1_Intron	NM_144987.2	NP_659424.2	Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	0	RRM.				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGAACCTCGGGGGTGACCT	0.607000													8	45					0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612332	79612332	+	RNA	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:79612332C>T	ENST00000328585.4	+	0	441				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGCCCCTGCCCGCAGACCCCA	0.687000													10	29					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17447184	17447184	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:17447184C>G	ENST00000400588.1	-	6	1201	c.1094G>C	c.(1093-1095)gGc>gCc	p.G365A		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	365										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGTAGGGGAGCCTGGGTTCAT	0.577000													4	37					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204425008	204425008	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:204425008C>T	ENST00000367187.3	-	12	2475	c.1919G>A	c.(1918-1920)cGc>cAc	p.R640H	PIK3C2B_ENST00000496872.1_5'UTR|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R640H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	640					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GATGGGGATGCGGTGGGTGGC	0.612000													7	36					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911534	46911534	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:46911534T>C	ENST00000378623.1	-	15	2295	c.2053A>G	c.(2053-2055)Atg>Gtg	p.M685V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	685					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)		TGGATGTCCATAGGGAAGTGG	0.537000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	74					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048892	6048892	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:6048892G>T	ENST00000316650.5	-	1	79	c.43C>A	c.(43-45)Cca>Aca	p.P15T		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGAGACTGGGACAGTGGAG	0.527000													9	72					1.12685e-05	1.26986e-05	1	1	0
PI4KA	5297	broad.mit.edu	37	22	21157563	21157563	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:21157563C>T	ENST00000255882.6	-	13	1593	c.1507G>A	c.(1507-1509)Gtg>Atg	p.V503M	PI4KA_ENST00000572273.1_Missense_Mutation_p.V445M	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	445					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GACGGTGTCACAGAGTGCACC	0.552000													9	67					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128486101	128486101	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:128486101C>T	ENST00000325888.8	+	22	4109	c.3848C>T	c.(3847-3849)aCa>aTa	p.T1283I	FLNC_ENST00000346177.6_Missense_Mutation_p.T1283I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1283					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTAACAGCCACAGGCGGCAAC	0.632000													7	19					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453836	84453836	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:84453836C>A	ENST00000377084.2	-	1	2692	c.1807G>T	c.(1807-1809)Ggg>Tgg	p.G603W		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	603						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGTGCGTCCCGGTCTCCGCC	0.582000													5	20					0.014758	0.0151955	1	1	0
HERC4	26091	broad.mit.edu	37	10	69751983	69751983	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:69751983G>A	ENST00000395198.3	-	11	1491	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	HERC4_ENST00000412272.2_Missense_Mutation_p.S415F|HERC4_ENST00000373700.4_Missense_Mutation_p.S415F|HERC4_ENST00000277817.6_Missense_Mutation_p.S305F|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	415					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AAACCTTCCAGAAGGATAGCT	0.498000													18	55					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43626696	43626696	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:43626696C>T	ENST00000332857.6	-	4	2019	c.1991G>A	c.(1990-1992)tGc>tAc	p.C664Y		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CAGATGTGGGCACAGGTCCCT	0.567000													44	116					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90965679	90965679	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:90965679T>A	ENST00000265433.3	-	11	1792	c.1638A>T	c.(1636-1638)agA>agT	p.R546S	NBN_ENST00000409330.1_Missense_Mutation_p.R464S	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	546					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTTTATTTGATCTTAGCTTTT	0.333000								Homologous recombination					48	43					0	0	1	0	0
CLRN1	7401	broad.mit.edu	37	3	150659515	150659515	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:150659515C>T	ENST00000327047.1	-	2	577	c.287G>A	c.(286-288)aGc>aAc	p.S96N	CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000295911.2_Missense_Mutation_p.S20N|CLRN1_ENST00000328863.4_Missense_Mutation_p.S96N|RP11-166N6.3_ENST00000569170.1_Missense_Mutation_p.A6T|RP11-166N6.2_ENST00000469268.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	96					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GACGTGGATGCTCACTGGGAT	0.383000													9	19					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97084914	97084914	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:97084914T>C	ENST00000524981.3	+	11	1443	c.1443T>C	c.(1441-1443)ctT>ctC	p.L481L				Q6ZTY8	CL063_HUMAN		455										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGGGTTTGCTTAGAACAACAC	0.333000													11	47					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582862	55582862	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:55582862T>C	ENST00000361849.3	-	34	5024	c.4630A>G	c.(4630-4632)Att>Gtt	p.I1544V	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.I1519V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1502V|PCDH15_ENST00000320301.6_Missense_Mutation_p.I1542V|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.I1539V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.I1473V|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1542					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)				CTCTGTGAAATGTCTGAATTT	0.393000										HNSCC(58;0.16)			24	117					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24776003	24776003	+	Missense_Mutation	SNP	G	G	A	rs140995374		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:24776003G>A	ENST00000221166.5	+	3	3417	c.2635G>A	c.(2635-2637)Gtc>Atc	p.V879I	NEFM_ENST00000518131.1_Missense_Mutation_p.V661I|NEFM_ENST00000437366.2_Missense_Mutation_p.V840I|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_Missense_Mutation_p.V503I			P07197	NFM_HUMAN	neurofilament, medium polypeptide	879	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCTGTAACCGTCACTCAAAA	0.413000													4	42					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45811243	45811243	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:45811243T>C	ENST00000397928.1	+	11	1974	c.1529T>C	c.(1528-1530)cTg>cCg	p.L510P	TRPM2_ENST00000397932.2_Missense_Mutation_p.L510P|TRPM2_ENST00000300482.5_Missense_Mutation_p.L510P|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.L510P	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	510						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGGTGCAGCTGAAGGAGTTT	0.562000													6	51					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116593767	116593767	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:116593767A>T	ENST00000410059.1	+	22	2465	c.1985A>T	c.(1984-1986)aAa>aTa	p.K662I	DPP10_ENST00000310323.8_Missense_Mutation_p.K655I|DPP10_ENST00000409163.1_Missense_Mutation_p.K612I|DPP10_ENST00000393147.2_Missense_Mutation_p.K666I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	662					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATGATCTTAAAATCAGATGAA	0.353000													4	33					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237802422	237802422	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:237802422G>T	ENST00000366574.2	+	46	7353	c.7036G>T	c.(7036-7038)Gca>Tca	p.A2346S	RYR2_ENST00000360064.6_Missense_Mutation_p.A2344S|RYR2_ENST00000542537.1_Missense_Mutation_p.A2330S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2346	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTTCTTGCAGCAATGGAAGA	0.493000													7	32					0.0293803	0.0301461	1	1	0
NUP205	23165	broad.mit.edu	37	7	135286203	135286203	+	Silent	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:135286203C>G	ENST00000285968.6	+	17	2486	c.2460C>G	c.(2458-2460)ctC>ctG	p.L820L		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	820					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGCTTGCTCTCAGTTTACTGG	0.408000													29	90					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77276548	77276548	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:77276548T>C	ENST00000388914.3	-	14	2367	c.2215A>G	c.(2215-2217)Aaa>Gaa	p.K739E		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	739										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGACCTCTTTTGGCTGTGATT	0.423000													29	80					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73061240	73061240	+	RNA	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:73061240C>A	ENST00000429829.1	-	0	11348					NR_001564.2																						GCCAGAGACTCTTCTTTACAG	0.393000													8	16					0.00307968	0.00324451	1	1	0
DPYSL4	10570	broad.mit.edu	37	10	134016185	134016185	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:134016185C>A	ENST00000338492.4	+	12	1481	c.1317C>A	c.(1315-1317)tgC>tgA	p.C439*	DPYSL4_ENST00000368627.1_Intron|DPYSL4_ENST00000368629.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	439					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GAGTGGAGTGCCGGGGAGCGC	0.657000													8	28					0.000157383	0.000170993	1	1	0
CHRM4	1132	broad.mit.edu	37	11	46408003	46408003	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:46408003A>G	ENST00000433765.2	-	1	104	c.105T>C	c.(103-105)atT>atC	p.I35I		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	35					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TCACTGTGGCAATGAAGACCA	0.552000													15	40					0	0	1	0	0
C19orf44	84167	broad.mit.edu	37	19	16612359	16612359	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:16612359T>G	ENST00000221671.3	+	2	912	c.756T>G	c.(754-756)ttT>ttG	p.F252L	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.F252L	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	252										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAAAACTATTTTCGGTGAGAt	0.343000													14	21					0	0	1	0	0
WIPI2	26100	broad.mit.edu	37	7	5265457	5265457	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:5265457C>T	ENST00000288828.4	+	9	976	c.744C>T	c.(742-744)tgC>tgT	p.C248C	WIPI2_ENST00000404704.3_Silent_p.C248C|WIPI2_ENST00000401525.3_Silent_p.C230C|WIPI2_ENST00000382384.2_Silent_p.C230C|WIPI2_ENST00000484262.1_Silent_p.C189C	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	248					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TCCCCAGGTGCGTGAGCATCT	0.617000													7	6					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40284431	40284431	+	Splice_Site	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:40284431G>A	ENST00000263791.5	+	17	2729		c.e17+1		EIF2AK4_ENST00000382727.2_Splice_Site	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4						translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GACCCTTCAGGTAAACCCAGA	0.348000													10	29					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530476	140530476	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:140530476C>G	ENST00000231136.1	+	1	638	c.638C>G	c.(637-639)gCg>gGg	p.A213G	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A77G	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		213	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCTGATCGCGCTGGATGGC	0.602000													14	39					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39795149	39795149	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:39795149T>C	ENST00000373272.2	+	18	2439	c.2034T>C	c.(2032-2034)gcT>gcC	p.A678A	PLCG1_ENST00000244007.3_Silent_p.A678A|PLCG1_ENST00000373271.1_Silent_p.A678A	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	678	SH2 2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GAGCACAGGCTGAGCACATGC	0.637000													7	34					0	0	1	0	0
ZDHHC24	254359	broad.mit.edu	37	11	66311439	66311439	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:66311439A>G	ENST00000310442.3	-	2	529	c.295T>C	c.(295-297)Tgc>Cgc	p.C99R	ZDHHC24_ENST00000525925.1_5'UTR|ZDHHC24_ENST00000526986.1_Missense_Mutation_p.C99R	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	99						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						TGGCTTTGGCATTGGTAGCAG	0.662000											OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	37					0	0	1	0	0
HDAC2	3066	broad.mit.edu	37	6	114279863	114279863	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:114279863C>A	ENST00000519065.1	-	3	609	c.233G>T	c.(232-234)cGg>cTg	p.R78L	HDAC2_ENST00000368632.2_Missense_Mutation_p.R48L|HDAC2_ENST00000398283.2_Missense_Mutation_p.R172L|HDAC2_ENST00000519108.1_Missense_Mutation_p.R48L			Q92769	HDAC2_HUMAN	histone deacetylase 2	78	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.R172L(1)|p.R78L(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	TCTTATTGACCGTAGAAATTT	0.348000													25	68					1.64293e-13	2.10217e-13	1	1	0
CASP4	837	broad.mit.edu	37	11	104815577	104815577	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:104815577A>G	ENST00000444739.2	-	8	1947	c.1035_splice	c.e8-1	p.V346_splice	CASP4_ENST00000393150.3_Splice_Site_p.V290_splice	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	346					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGATTGCTGTACCTGAAAAAG	0.413000													10	30					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362502	9362502	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9362502T>C	ENST00000456448.1	+	1	897	c.783T>C	c.(781-783)tcT>tcC	p.S261S		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CCTGTGGCTCTCACCTGGCAG	0.458000													8	25					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775752	77775752	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:77775752C>A	ENST00000521891.2	+	11	10250	c.9802C>A	c.(9802-9804)Cct>Act	p.P3268T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3242T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3219T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3223T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATACTTTATCCCTGGGTTTGC	0.493000										HNSCC(33;0.089)			16	133					1.5739e-10	1.94636e-10	1	1	0
C21orf62	56245	broad.mit.edu	37	21	34166092	34166092	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:34166092A>G	ENST00000536776.1	-	2	781	c.641T>C	c.(640-642)gTt>gCt	p.V214A	C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000453404.1_Intron|C21orf49_ENST00000477513.1_Intron|C21orf49_ENST00000382378.1_Intron|C21orf62_ENST00000490358.1_Missense_Mutation_p.V214A|C21orf49_ENST00000382377.3_Intron|C21orf62_ENST00000479548.1_Missense_Mutation_p.V214A|C21orf62_ENST00000487113.1_Missense_Mutation_p.V214A	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	214										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				AAATGTGACAACATAGCTTTT	0.368000													12	35					0	0	1	0	0
PPAN	56342	broad.mit.edu	37	19	10225288	10225288	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:10225288A>G	ENST00000556468.1	+	13	2286	c.2259A>G	c.(2257-2259)cgA>cgG	p.R753R	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Silent_p.R753R|P2RY11_ENST00000321826.4_Silent_p.R333R					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GCTGCTGCCGACACTGCCCCG	0.662000													13	21					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94942518	94942518	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:94942518A>T	ENST00000546329.1	-	1	152	c.74T>A	c.(73-75)cTc>cAc	p.L25H	SERPINA9_ENST00000424550.2_5'UTR|SERPINA9_ENST00000337425.5_5'UTR|SERPINA9_ENST00000298845.7_5'UTR|SERPINA9_ENST00000448305.2_5'UTR|SERPINA9_ENST00000539349.1_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	47					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		atggttggtgagccctgacac	0.527000													27	95					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18458546	18458546	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:18458546A>G	ENST00000338745.6	-	3	1970	c.236T>C	c.(235-237)gTg>gCg	p.V79A	SATB1_ENST00000417717.2_Missense_Mutation_p.V79A|SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000454909.2_Missense_Mutation_p.V79A|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	79					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATGTTCCACCACACAGAAAAC	0.428000													13	60					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753867	49753867	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:49753867C>A	ENST00000304801.3	-	1	1186	c.1034G>T	c.(1033-1035)tGg>tTg	p.W345L		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	345					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)					AAAGGCATCCCATTCAAATAC	0.478000													108	110					1.26289e-39	1.69678e-39	1	1	0
TUBGCP3	10426	broad.mit.edu	37	13	113181737	113181737	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:113181737A>G	ENST00000261965.3	-	12	1583	c.1397T>C	c.(1396-1398)tTg>tCg	p.L466S	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.L466S	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	466					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CGATTTCCTCAAAGTATACTT	0.373000													5	86					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82927845	82927845	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:82927845A>T	ENST00000306270.7	-	10	1807	c.1258T>A	c.(1258-1260)Tgg>Agg	p.W420R	IBTK_ENST00000503631.1_Missense_Mutation_p.W420R|IBTK_ENST00000510291.1_Missense_Mutation_p.W420R	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	420					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ACTGATCTCCAGCAAAACACC	0.348000													8	9					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579292	44579292	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:44579292G>T	ENST00000289547.4	-	2	759	c.704C>A	c.(703-705)cCt>cAt	p.P235H	NPC1L1_ENST00000381160.3_Missense_Mutation_p.P235H|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P235H|NPC1L1_ENST00000423141.1_Missense_Mutation_p.P235H	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	235					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTCATTCAGAGGCTGAATCCC	0.612000													10	57					2.17888e-05	2.42989e-05	1	1	0
CR1	1378	broad.mit.edu	37	1	207751302	207751302	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:207751302T>C	ENST00000367049.4	+	29	4690	c.4690T>C	c.(4690-4692)Tac>Cac	p.Y1564H	CR1_ENST00000400960.2_Missense_Mutation_p.Y1114H|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.Y1114H|CR1_ENST00000367052.1_Missense_Mutation_p.Y1114H|CR1_ENST00000367053.1_Missense_Mutation_p.Y1114H	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1114	Sushi 24.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCCTCCATATACTGCACCAG	0.502000													36	215					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62574681	62574681	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:62574681C>T	ENST00000262435.9	-	9	973	c.786G>A	c.(784-786)acG>acA	p.T262T	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	262	WW 2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GGCCTTGTTGCGTTGTCCTCT	0.373000													7	27					0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96051154	96051154	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:96051154A>T	ENST00000515059.1	+	9	1010	c.727A>T	c.(727-729)Aga>Tga	p.R243*	BMPR1B_ENST00000264568.4_Nonsense_Mutation_p.R243*|BMPR1B_ENST00000394931.1_Nonsense_Mutation_p.R243*|BMPR1B_ENST00000440890.2_Nonsense_Mutation_p.R273*	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	243	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CAGCTGGTTCAGAGAGACAGA	0.453000													12	41					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012595	29012595	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:29012595A>G	ENST00000377175.1	-	1	422	c.358T>C	c.(358-360)Tat>Cat	p.Y120H		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AAACGATCATAGGACATAACA	0.403000													6	82					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113418912	113418912	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:113418912G>C	ENST00000297405.5	-	35	5894	c.5650C>G	c.(5650-5652)Cca>Gca	p.P1884A	CSMD3_ENST00000352409.3_Missense_Mutation_p.P1814A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1780A|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1844A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1884	Sushi 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCGAATCTTGGTTCAGGCACA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			41	39					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93108766	93108766	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:93108766C>T	ENST00000359558.2	-	5	458	c.159G>A	c.(157-159)gaG>gaA	p.E53E	CALCR_ENST00000421592.1_Silent_p.E35E|CALCR_ENST00000394441.1_Silent_p.E35E|CALCR_ENST00000426151.1_Silent_p.E35E|CALCR_ENST00000360249.4_Silent_p.E35E	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	35					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATGGCTTGGGCTCTATTGTTG	0.423000													20	107					0	0	1	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107178989	107178989	+	RNA	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:107178989C>A	ENST00000390634.2	-	0	263																											CAGGGCCTTCCCTGGGGGCTG	0.532000													14	51					1.3612e-06	1.57761e-06	1	1	0
GPC6	10082	broad.mit.edu	37	13	94482464	94482464	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:94482464G>A	ENST00000377047.4	+	3	992	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	126						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ATGTTTGTACGGACCTATGGC	0.403000													14	43					0	0	1	0	0
ERCC5	2073	broad.mit.edu	37	13	103515012	103515012	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:103515012A>C	ENST00000355739.4	+	8	2936	c.1513A>C	c.(1513-1515)Agt>Cgt	p.S505R	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.E930A	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCCTCTGGAGAGTGCAGTGGT	0.468000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	42					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197115347	197115347	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:197115347A>G	ENST00000367409.4	-	1	477	c.221T>C	c.(220-222)gTg>gCg	p.V74A	ASPM_ENST00000294732.7_Missense_Mutation_p.V74A	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	74					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACTTCTGCCACCTCCTCGTT	0.607000													20	153					0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92923832	92923832	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:92923832C>T	ENST00000327111.3	+	2	2360	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	225					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.R225C(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GCTGGCCGCGCGCCTGCTCTT	0.657000													6	36					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180328098	180328098	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:180328098G>A	ENST00000296015.4	+	12	2213	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	694							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)			TCTGGATCACGTGATTTCAGT	0.408000													11	50					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114249340	114249340	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:114249340T>A	ENST00000369604.1	-	12	1757	c.1274A>T	c.(1273-1275)cAt>cTt	p.H425L	PHTF1_ENST00000393357.2_Missense_Mutation_p.H425L|PHTF1_ENST00000357783.2_Missense_Mutation_p.H425L|PHTF1_ENST00000369600.1_Missense_Mutation_p.H372L|PHTF1_ENST00000369596.2_Missense_Mutation_p.H372L|PHTF1_ENST00000369598.1_Missense_Mutation_p.H380L|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000447664.2_3'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	425						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		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)		CCAGAATAAATGATTCTGAGA	0.383000													19	45					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022249	120022249	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:120022249A>T	ENST00000379551.2	+	3	1048	c.691A>T	c.(691-693)Aca>Tca	p.T231S	PRR16_ENST00000446965.1_Missense_Mutation_p.T184S|PRR16_ENST00000505123.1_Missense_Mutation_p.T184S|PRR16_ENST00000407149.2_Missense_Mutation_p.T254S	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	254	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCTCCCTCCTACACCCCATCT	0.537000													12	21					0	0	1	0	0
GDNF	2668	broad.mit.edu	37	5	37816117	37816117	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:37816117C>A	ENST00000326524.2	-	3	471	c.272G>T	c.(271-273)cGg>cTg	p.R91L	GDNF_ENST00000381826.4_Missense_Mutation_p.R82L|GDNF_ENST00000515058.1_Missense_Mutation_p.R65L|GDNF_ENST00000344622.4_Missense_Mutation_p.R65L|GDNF_ENST00000427982.1_Missense_Mutation_p.R108L	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	91					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CTGCCGATTCCGCTCTCTTCT	0.478000													8	58					5.68852e-11	7.10164e-11	1	1	0
ANKIB1	54467	broad.mit.edu	37	7	92020624	92020624	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:92020624G>C	ENST00000265742.3	+	16	2573	c.2197G>C	c.(2197-2199)Gct>Cct	p.A733P		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	733							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCGGGGAGTAGCTCCTGCAGA	0.512000													8	26					0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103338753	103338753	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:103338753A>T	ENST00000267273.6	-	4	428	c.423T>A	c.(421-423)gaT>gaA	p.D141E		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	141							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CATCAGGCAAATCTGTTGCTG	0.423000													17	45					0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7036001	7036001	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:7036001T>C	ENST00000382040.3	+	6	1150	c.1014T>C	c.(1012-1014)ttT>ttC	p.F338F	RSAD2_ENST00000541728.1_Silent_p.F231F	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	338					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TCAGTGGATTTGATGAAAAGA	0.433000													10	47					0	0	1	0	0
HAPLN4	404037	broad.mit.edu	37	19	19369631	19369631	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:19369631C>A	ENST00000291481.7	-	4	581	c.518G>T	c.(517-519)cGa>cTa	p.R173L	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	173	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CAGCTTGTATCGGCCTCCACG	0.701000													5	8					1.23904e-05	1.38834e-05	1	1	0
DDX27	55661	broad.mit.edu	37	20	47858627	47858627	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:47858627A>G	ENST00000371764.4	+	18	2102	c.2093A>G	c.(2092-2094)gAa>gGa	p.E698G	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	698						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAGGCAGAGGAAAGGTCTCAG	0.602000													17	111					0	0	1	0	0
USP1	7398	broad.mit.edu	37	1	62907238	62907238	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:62907238A>G	ENST00000339950.4	+	3	1065	c.250A>G	c.(250-252)Aat>Gat	p.N84D	USP1_ENST00000371146.1_Missense_Mutation_p.N84D	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	84					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TGTGGGACTGAATAATCTCGG	0.348000													12	25					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690788	38690788	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:38690788A>G	ENST00000449981.2	+	2	312	c.203A>G	c.(202-204)gAa>gGa	p.E68G						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						ATTCCTTCTGAAGAAGGGATA	0.522000													30	23					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921200	12921200	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:12921200C>A	ENST00000240189.2	+	4	1078	c.991C>A	c.(991-993)Ctg>Atg	p.L331M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	331										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTACGTGCTGCTGTTCCG	0.498000													13	131					0.00136819	0.00145309	1	1	0
OR11L1	391189	broad.mit.edu	37	1	248004548	248004548	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:248004548G>T	ENST00000355784.2	-	1	706	c.651C>A	c.(649-651)ccC>ccA	p.P217P		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAAAACATAGGGCCCCAGTG	0.488000													15	62					2.32078e-09	2.83732e-09	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30935669	30935669	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:30935669G>T	ENST00000355537.3	+	2	1347	c.1200G>T	c.(1198-1200)tcG>tcT	p.S400S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACAAGCTGTCGGTGAAGAACA	0.612000													15	49					2.31682e-05	2.57886e-05	1	1	0
C12orf40	283461	broad.mit.edu	37	12	40040216	40040216	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:40040216G>T	ENST00000324616.5	+	4	442	c.288G>T	c.(286-288)tcG>tcT	p.S96S	C12orf40_ENST00000398716.1_Silent_p.S19S|C12orf40_ENST00000405531.3_Silent_p.S96S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	96								p.S96S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TTACAATGTCGCCTCACTGTG	0.323000													9	73					3.09899e-07	3.64169e-07	1	1	0
ZNF716	441234	broad.mit.edu	37	7	57529293	57529293	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:57529293G>C	ENST00000420713.1	+	4	1238	c.1126G>C	c.(1126-1128)Gga>Cga	p.G376R		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GATTCATACTGGAGAGAAACC	0.413000													5	27					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102822743	102822743	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:102822743T>C	ENST00000260302.3	-	5	825	c.797A>G	c.(796-798)tAt>tGt	p.Y266C	MMP13_ENST00000340273.4_Missense_Mutation_p.Y266C	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	266					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		CGAGTTACCATAGAGAGACTG	0.393000													36	764					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950335	38950335	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:38950335T>C	ENST00000357387.3	-	31	3645	c.3615A>G	c.(3613-3615)gtA>gtG	p.V1205V	RICTOR_ENST00000296782.5_Silent_p.V1205V	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1205					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTGAACTTTCTACTACTAACC	0.393000													43	136					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9445353	9445353	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:9445353G>A	ENST00000379719.3	+	10	1213	c.1071G>A	c.(1069-1071)ttG>ttA	p.L357L		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	357					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTTTCCATTGATGTGCTATA	0.313000													10	76					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12131255	12131255	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:12131255G>T	ENST00000263035.4	+	5	1049		c.e5+1		DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1						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)			TTGCTTACAGGTACTTGGAGC	0.557000													13	39					5.50884e-06	6.27381e-06	1	1	0
HRH3	11255	broad.mit.edu	37	20	60791154	60791154	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:60791154G>T	ENST00000340177.5	-	3	1530	c.1246C>A	c.(1246-1248)Cac>Aac	p.H416N	HRH3_ENST00000317393.6_Missense_Mutation_p.H416N	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	416					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	AAGCTGTGGTGGCACAGAGGG	0.627000													4	16					0.150653	0.15181	1	1	0
CPXM2	119587	broad.mit.edu	37	10	125521574	125521574	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:125521574G>T	ENST00000241305.3	-	11	1745	c.1591C>A	c.(1591-1593)Cgg>Agg	p.R531R	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	531					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R531W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CAGGGGGACCGCACCAGGTCG	0.632000													12	55					6.72482e-11	8.36002e-11	1	1	0
KIF14	9928	broad.mit.edu	37	1	200558485	200558485	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:200558485G>C	ENST00000367350.4	-	18	3412	c.2974C>G	c.(2974-2976)Caa>Gaa	p.Q992E		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	992	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTTTTCCTTTGAGACTCTTCT	0.313000													4	36					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24727207	24727207	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:24727207T>C	ENST00000396475.2	+	13	1896	c.1597T>C	c.(1597-1599)Tgg>Cgg	p.W533R	MPP6_ENST00000409761.1_Missense_Mutation_p.W421R|MPP6_ENST00000222644.4_Missense_Mutation_p.W533R	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	533					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GGAACCACAGTGGGTCCCAAT	0.343000													32	113					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921234	12921234	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:12921234C>A	ENST00000240189.2	+	4	1112	c.1025C>A	c.(1024-1026)gCt>gAt	p.A342D		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	342										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTAGGAGCTCTGCTAGAG	0.542000													83	52					1.4533e-46	1.95484e-46	1	1	0
AKAP11	11215	broad.mit.edu	37	13	42874407	42874407	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:42874407A>T	ENST00000025301.2	+	8	1700	c.1525A>T	c.(1525-1527)Act>Tct	p.T509S		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	509					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TACCCACCATACTAATACCCT	0.294000													16	51					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4673831	4673831	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:4673831G>T	ENST00000396952.5	+	2	725	c.75G>T	c.(73-75)gaG>gaT	p.E25D	OR51E1_ENST00000530215.1_Missense_Mutation_p.E25D	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTAGAAGAGGCTCAGTTCT	0.493000													28	91					1.61788e-16	2.11596e-16	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133799598	133799598	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:133799598A>G	ENST00000321016.8	-	12	1829	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	IGSF9B_ENST00000533871.2_Silent_p.Y533Y			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	533	Fibronectin type-III 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGCCTCCATCATAGCCTGGTT	0.602000													10	36					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33486947	33486947	+	Missense_Mutation	SNP	C	C	T	rs143674321	by1000genomes	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:33486947C>T	ENST00000254260.3	-	11	1440	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	RHPN2_ENST00000400226.4_Missense_Mutation_p.A318T	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	469					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					ACACTGGGGGCGTCGATCAGG	0.627000													12	49					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480526	73480526	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:73480526C>A	ENST00000523207.1	+	2	1145	c.557C>A	c.(556-558)cCt>cAt	p.P186H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	186					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGGAGAAACCTAACTCATCA	0.448000													10	98					1.76689e-08	2.12495e-08	1	1	0
FMN2	56776	broad.mit.edu	37	1	240255602	240255602	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:240255602A>T	ENST00000319653.9	+	1	423	c.193A>T	c.(193-195)Aag>Tag	p.K65*		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	65					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGCAAGAAGAAGAGCAAGTC	0.647000													5	9					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435462	158435462	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:158435462C>T	ENST00000289451.2	+	1	191	c.111C>T	c.(109-111)ttC>ttT	p.F37F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCTACCTGTTCACTCTGGGCA	0.507000													10	125					0	0	1	0	0
TEX264	51368	broad.mit.edu	37	3	51733556	51733556	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:51733556T>C	ENST00000415259.1	+	4	1696	c.615T>C	c.(613-615)ctT>ctC	p.L205L	TEX264_ENST00000341333.5_Silent_p.L205L|TEX264_ENST00000395057.1_Silent_p.L205L|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000457573.1_Silent_p.L205L|TEX264_ENST00000416589.1_Silent_p.L205L			Q9Y6I9	TX264_HUMAN	testis expressed 264	205						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GGCGGGGGCTTGTGGAGGCCA	0.577000													5	67					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855851	12855851	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:12855851C>A	ENST00000332296.7	+	4	1234	c.1131C>A	c.(1129-1131)tcC>tcA	p.S377S	PRAMEF1_ENST00000400814.3_Silent_p.S132S	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	377										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGGTGCTCCCAGCTCACCA	0.552000													12	80					4.96729e-08	5.94364e-08	1	1	0
ABCB1	5243	broad.mit.edu	37	7	87195421	87195421	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:87195421G>T	ENST00000265724.3	-	8	1084	c.667C>A	c.(667-669)Cct>Act	p.P223T	ABCB1_ENST00000543898.1_Missense_Mutation_p.P159T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	223	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCAAGAACAGGACTGATGGCC	0.463000													12	57					0.00136819	0.00145309	1	1	0
AP1G1	164	broad.mit.edu	37	16	71807199	71807199	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:71807199G>A	ENST00000299980.4	-	4	834	c.393C>T	c.(391-393)tcC>tcT	p.S131S	AP1G1_ENST00000433195.2_Silent_p.S154S|AP1G1_ENST00000423132.2_Silent_p.S131S|AP1G1_ENST00000393512.3_Silent_p.S131S|AP1G1_ENST00000569748.1_Silent_p.S131S	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	131					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ACATCTCTGAGGAGCCCATGC	0.438000													11	47					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80801393	80801393	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:80801393T>A	ENST00000466387.1	+	17	2571	c.1847T>A	c.(1846-1848)gTg>gAg	p.V616E	CTNNA2_ENST00000343114.3_Missense_Mutation_p.V295E|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V650E|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V616E|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V616E|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V616E|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V616E			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	616					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCTCGCCTGGTGTATGATGGC	0.517000													18	74					0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21106650	21106650	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:21106650A>G	ENST00000269221.3	+	13	1220	c.1110A>G	c.(1108-1110)ttA>ttG	p.L370L	C18orf8_ENST00000590868.1_Silent_p.L322L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	370										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TAAATCTCTTACCAGACAAAG	0.428000													6	48					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35451185	35451185	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:35451185A>G	ENST00000404801.1	-	3	623	c.237T>C	c.(235-237)gaT>gaC	p.D79D	ZNF792_ENST00000605484.1_Silent_p.D12D	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTGATGTCATATCCACACTGT	0.537000													4	28					0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70672916	70672916	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:70672916A>G	ENST00000373585.3	+	5	746		c.e5-1			NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CCTCTTGCTCAGGTACTTGTT	0.358000													5	41					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9445360	9445360	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:9445360T>C	ENST00000379719.3	+	10	1220	c.1078T>C	c.(1078-1080)Tat>Cat	p.Y360H		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	360					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATTGATGTGCTATACAGATGC	0.318000													8	76					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7608296	7608296	+	Missense_Mutation	SNP	G	G	A	rs150896441		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:7608296G>A	ENST00000256861.6	-	13	2302	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C	ITIH5_ENST00000446830.2_Missense_Mutation_p.R524C|ITIH5_ENST00000298441.6_Missense_Mutation_p.R528C|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	742					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.R742C(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTGATAGTGCGCAAGTAAGTG	0.527000													6	28					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249452	238249452	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:238249452T>G	ENST00000295550.4	-	38	8559	c.8107A>C	c.(8107-8109)Agc>Cgc	p.S2703R	COL6A3_ENST00000353578.4_Missense_Mutation_p.S2497R|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2497R|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2502R|COL6A3_ENST00000472056.1_Missense_Mutation_p.S2096R|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2503R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2703	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATTCCCCTGCTGAGGAAGTCC	0.552000													9	63					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234529224	234529224	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:234529224T>C	ENST00000040877.1	-	28	4443	c.4444A>G	c.(4444-4446)Agg>Ggg	p.R1482G	TARBP1_ENST00000483404.1_Splice_Site	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1482					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCACAGGTCCTGCACAGTCCT	0.502000													11	59					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45011817	45011817	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:45011817C>A	ENST00000258787.7	-	6	762	c.626G>T	c.(625-627)aGa>aTa	p.R209I		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	209	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTCACTGCCTCTCAGCAACTA	0.512000													5	59					0.014758	0.0151955	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2041800	2041800	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:2041800C>T	ENST00000262113.4	+	17	2148	c.2007C>T	c.(2005-2007)ttC>ttT	p.F669F	MYOM2_ENST00000523438.1_Silent_p.F94F	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	669	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTCTCAGGTTCGTGGTGCACG	0.498000													8	52					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42264609	42264609	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:42264609G>T	ENST00000327628.5	+	16	2642	c.2242G>T	c.(2242-2244)Ggc>Tgc	p.G748C	TRAK1_ENST00000396175.1_Missense_Mutation_p.G690C|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	748					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GAAGGAGCGGGGCATTTCTGC	0.637000													9	29					0.000274275	0.000295277	1	1	0
OR4M1	441670	broad.mit.edu	37	14	20248712	20248712	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:20248712A>T	ENST00000315957.4	+	1	312	c.231A>T	c.(229-231)acA>acT	p.T77T		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCCATTACAGCCCCTAAAA	0.438000													63	366					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93104408	93104408	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:93104408C>A	ENST00000298050.3	+	7	851	c.751C>A	c.(751-753)Ctc>Atc	p.L251I		NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	251										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAATCAGAAGCTCTTGCAAGA	0.308000													5	25					5.9392e-07	6.91735e-07	1	1	0
ADAM29	11086	broad.mit.edu	37	4	175897731	175897731	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:175897731C>A	ENST00000359240.3	+	5	1725	c.1055C>A	c.(1054-1056)cCt>cAt	p.P352H	ADAM29_ENST00000514159.1_Missense_Mutation_p.P352H|ADAM29_ENST00000445694.1_Missense_Mutation_p.P352H|ADAM29_ENST00000404450.4_Missense_Mutation_p.P352H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	352	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTTCACAACCTAGATGCATA	0.378000													7	132					2.0095e-06	2.31308e-06	1	1	0
CNOT2	4848	broad.mit.edu	37	12	70724089	70724089	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:70724089A>G	ENST00000229195.3	+	6	988	c.409A>G	c.(409-411)Agg>Ggg	p.R137G	CNOT2_ENST00000418359.3_Missense_Mutation_p.R137G|CNOT2_ENST00000548230.1_3'UTR	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	137					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TATGAATCCTAGGAATATGAT	0.403000													10	58					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67344982	67344982	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:67344982A>G	ENST00000382713.5	+	4	492	c.302A>G	c.(301-303)gAg>gGg	p.E101G	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	101	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CTGGAGGCCGAGGAGTGGTGC	0.532000													6	40					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48349667	48349667	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:48349667C>A	ENST00000435803.1	+	24	9469	c.9445C>A	c.(9445-9447)Cca>Aca	p.P3149T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3149					transport	integral to membrane	ATP binding|ATPase activity	p.P3149A(1)|p.P3094A(1)|p.P3149E(1)|p.P3094E(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGTAGCCTGCCAGGGTCAAA	0.488000													68	92					4.37588e-27	5.85931e-27	1	1	0
SRPRB	58477	broad.mit.edu	37	3	133526654	133526654	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:133526654T>C	ENST00000466490.2	+	4	599	c.314T>C	c.(313-315)gTc>gCc	p.V105A		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	105						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						GTATACAGAGTCAACAATAAC	0.383000													4	65					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15468400	15468400	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:15468400T>C	ENST00000281513.5	-	37	4409	c.4384A>G	c.(4384-4386)Aca>Gca	p.T1462A	NBAS_ENST00000441750.1_Missense_Mutation_p.T1342A	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1462										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCATTGGCTGTAGTTCCGATT	0.398000													32	147					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61602088	61602088	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:61602088C>A	ENST00000238508.3	+	8	865	c.806C>A	c.(805-807)aCc>aAc	p.T269N	AC009802.1_ENST00000599868.1_Missense_Mutation_p.G16V	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AAGGCCATCACCTATGAGAAG	0.438000													10	26					3.07112e-06	3.50773e-06	1	1	0
MCAT	27349	broad.mit.edu	37	22	43533109	43533109	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:43533109C>A	ENST00000290429.5	-	3	752	c.707G>T	c.(706-708)aGg>aTg	p.R236M	MCAT_ENST00000327555.5_Intron	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	236					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TGAAATCACCCTGCAATCTGG	0.527000											OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	125					0.000274275	0.000295277	1	1	0
PPP1CB	5500	broad.mit.edu	37	2	29016786	29016786	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:29016786G>C	ENST00000395366.2	+	7	1074	c.802G>C	c.(802-804)Gcc>Ccc	p.A268P	PPP1CB_ENST00000358506.2_Missense_Mutation_p.A268P|PPP1CB_ENST00000296122.6_Missense_Mutation_p.A268P|SPDYA_ENST00000462832.1_3'UTR	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	268					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTTATTTTCAGCCCCAAATTA	0.358000													4	36					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762906	92762906	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:92762906C>T	ENST00000318238.4	-	5	3595	c.2379G>A	c.(2377-2379)caG>caA	p.Q793Q	SAMD9L_ENST00000437805.1_Silent_p.Q793Q|SAMD9L_ENST00000411955.1_Silent_p.Q793Q	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	793										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GAATGTAATCCTGATGGCTCT	0.378000													22	81					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29417281	29417281	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:29417281A>T	ENST00000378993.1	+	5	1232	c.559A>T	c.(559-561)Aca>Tca	p.T187S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.T187S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	187	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGAATGCAGGACAAAAACATG	0.284000													14	18					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	5984019	5984019	+	Missense_Mutation	SNP	G	G	A	rs148296936		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:5984019G>A	ENST00000574946.1	+	2	431	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000317744.5_Missense_Mutation_p.R14Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1	14						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						TTTCTCCGCCGAACACAGTTC	0.672000													8	24					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134071879	134071879	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:134071879C>T	ENST00000264360.4	+	1	1410	c.584C>T	c.(583-585)gCg>gTg	p.A195V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	195	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGCAGCAAGCGGTGCACCGC	0.677000													3	31					0	0	1	0	0
CSNK2A3	283106	broad.mit.edu	37	11	11374301	11374301	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:11374301C>A	ENST00000528848.2	-	1	603	c.366G>T	c.(364-366)aaG>aaT	p.K122N	RP11-567I13.1_ENST00000526867.1_RNA|GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		GGTACAATTGCTTGAAGTCTG	0.438000													21	98					1.00905e-13	1.29955e-13	1	1	0
HOXD9	3235	broad.mit.edu	37	2	176988216	176988216	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:176988216G>A	ENST00000249499.6	+	1	1129	c.720G>A	c.(718-720)tcG>tcA	p.S240S	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	240						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCGGCTCGTCGGAGCCCTCAG	0.677000													3	9					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237813350	237813350	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:237813350C>A	ENST00000366574.2	+	50	8003	c.7686C>A	c.(7684-7686)acC>acA	p.T2562T	RYR2_ENST00000360064.6_Silent_p.T2560T|RYR2_ENST00000542537.1_Silent_p.T2546T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2562	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTCACTTACCAAAGCTCAGC	0.408000													44	145					5.2432e-18	6.90326e-18	1	1	0
ABCF1	23	broad.mit.edu	37	6	30553956	30553956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:30553956C>T	ENST00000326195.8	+	18	1871	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Nonsense_Mutation_p.R549*	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	587					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GCAGAAATGCCGACGGAAAAA	0.542000													9	32					0	0	1	0	0
LOC286238	286238	broad.mit.edu	37	9	91266874	91266874	+	RNA	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:91266874A>G	ENST00000418343.2	-	0	176																											caagtgactcacccctctgtg	0.463000													3	10					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137990553	137990553	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:137990553C>T	ENST00000409968.1	+	9	2178	c.2000C>T	c.(1999-2001)aCa>aTa	p.T667I	THSD7B_ENST00000413152.2_Missense_Mutation_p.T636I|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T667I					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)		CACTGGGAGACATCGCCTTGG	0.502000													16	23					0	0	1	0	0
CD200	4345	broad.mit.edu	37	3	112066479	112066479	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:112066479C>A	ENST00000315711.8	+	4	553	c.496C>A	c.(496-498)Cca>Aca	p.P166T	CD200_ENST00000383681.3_Missense_Mutation_p.P92T|CD200_ENST00000473539.1_Missense_Mutation_p.P191T	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	166	Ig-like C2-type.				regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CACTGCCCGCCCAGCCCCCAT	0.483000													45	80					2.24893e-16	2.93156e-16	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33561216	33561216	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:33561216G>C	ENST00000504830.1	-	20	4376	c.4041C>G	c.(4039-4041)gaC>gaG	p.D1347E	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1262E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1347	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGGCCGCACAGTCAGAATCCA	0.572000										HNSCC(64;0.19)			10	61					0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46111911	46111911	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:46111911A>G	ENST00000374366.3	-	11	2400	c.1935T>C	c.(1933-1935)gtT>gtC	p.V645V	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Silent_p.V719V|ZFAND4_ENST00000374371.2_3'UTR			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	719							zinc ion binding										TTGGTGCATTAACCACAGGAT	0.408000													9	104					0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282358	71282358	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:71282358C>A	ENST00000335793.3	-	2	676	c.282G>T	c.(280-282)agG>agT	p.R94S	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	94					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCCGCTCCCCCCTGGTCACCG	0.622000													13	47					9.31168e-06	1.05538e-05	1	1	0
SIK3	23387	broad.mit.edu	37	11	116734527	116734527	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:116734527A>G	ENST00000375300.1	-	15	1821	c.1816T>C	c.(1816-1818)Tac>Cac	p.Y606H	SIK3_ENST00000542607.1_Missense_Mutation_p.Y548H|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.Y606H|SIK3_ENST00000434315.2_Missense_Mutation_p.Y447H|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Missense_Mutation_p.Y548H			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	548	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAGTCCTTGTAGGTAGAGCTG	0.537000													19	77					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20442632	20442632	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:20442632A>G	ENST00000331849.4	+	10	1444	c.1297A>G	c.(1297-1299)Aat>Gat	p.N433D		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	433					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGTTTCTTCAATTGCTATTT	0.478000													8	67					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33316786	33316786	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:33316786A>G	ENST00000315596.10	+	23	2719	c.2533A>G	c.(2533-2535)Aaa>Gaa	p.K845E		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	845					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)		TAATCACAGTAAATCAGGAAC	0.333000													6	34					0	0	1	0	0
DEFB131	644414	broad.mit.edu	37	4	9452126	9452126	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:9452126T>C	ENST00000334879.1	+	2	99	c.99T>C	c.(97-99)taT>taC	p.Y33Y		NM_001040448.2|NM_001242853.1	NP_001035538.2|NP_001229782.1	P59861	DB131_HUMAN	defensin, beta 131	33					defense response to bacterium	extracellular region				lung(2)	2						CTTCAGAATATTATCATTGCA	0.333000													7	38					0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172809466	172809466	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:172809466A>C	ENST00000264108.4	+	4	292	c.256A>C	c.(256-258)Atg>Ctg	p.M86L	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Start_Codon_SNP_p.M1L	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	86					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCTGTCAACAATGTTCCGTGT	0.318000													8	66					0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72553991	72553991	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:72553991C>A	ENST00000569795.1	-	9	1140	c.453G>T	c.(451-453)aaG>aaT	p.K151N	PARP6_ENST00000287196.9_Missense_Mutation_p.K151N|PARP6_ENST00000260376.7_Missense_Mutation_p.K151N|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	151							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						CCTGCTGGGTCTTCAAGAAAT	0.483000													38	175					3.76114e-14	4.85985e-14	1	1	0
IPO4	79711	broad.mit.edu	37	14	24652867	24652867	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:24652867G>T	ENST00000354464.6	-	20	2168	c.1992C>A	c.(1990-1992)agC>agA	p.S664R	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	664					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CATTCTCCACGCTGTACCTAG	0.537000													5	57					0.00116845	0.00124318	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168096393	168096393	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:168096393C>T	ENST00000409195.1	+	6	976	c.887C>T	c.(886-888)aCt>aTt	p.T296I	XIRP2_ENST00000409605.1_Missense_Mutation_p.T74I|XIRP2_ENST00000409273.1_Missense_Mutation_p.T74I|XIRP2_ENST00000409756.2_Missense_Mutation_p.T296I|XIRP2_ENST00000295237.9_Missense_Mutation_p.T296I|XIRP2_ENST00000409728.1_Missense_Mutation_p.T329I|XIRP2_ENST00000420519.1_Missense_Mutation_p.T329I|XIRP2_ENST00000409043.1_Missense_Mutation_p.T296I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	121					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						CAGGTTGGCACTTCAAGAAGC	0.373000													24	34					0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105142882	105142882	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:105142882T>C	ENST00000356362.2	-	5	929	c.715A>G	c.(715-717)Aaa>Gaa	p.K239E	PUS7_ENST00000469408.1_Missense_Mutation_p.K239E	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	239					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						AAAGCCTTTTTCCCAGCTGCG	0.532000													15	72					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43907906	43907906	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:43907906C>A	ENST00000314537.5	+	7	904	c.679C>A	c.(679-681)Cgc>Agc	p.R227S	CRHR1_ENST00000398285.3_Missense_Mutation_p.R256S|CRHR1_ENST00000577353.1_Missense_Mutation_p.R227S|CRHR1_ENST00000352855.5_Missense_Mutation_p.R187S|CRHR1_ENST00000339069.5_Missense_Mutation_p.R126S|CRHR1_ENST00000293493.7_Missense_Mutation_p.R52S	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	256					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TGACCGGCTGCGCAAATGGAT	0.622000													6	77					0.217242	0.217611	1	1	0
KNTC1	9735	broad.mit.edu	37	12	123075220	123075220	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:123075220G>T	ENST00000333479.7	+	41	4243	c.4066G>T	c.(4066-4068)Gat>Tat	p.D1356Y	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1356					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACCTCAAAAAGATGTGTTTGA	0.393000													24	72					1.85244e-09	2.26708e-09	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25468286	25468286	+	RNA	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:25468286G>T	ENST00000453082.2	+	0	834					NR_003343.1																						AGTCCCTGGTGCACTGAAGCT	0.607000													33	26					1.08312e-15	1.40722e-15	1	1	0
APEH	327	broad.mit.edu	37	3	49720357	49720357	+	Silent	SNP	G	G	A	rs41290718	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:49720357G>A	ENST00000296456.5	+	20	2365	c.1965G>A	c.(1963-1965)tcG>tcA	p.S655S	APEH_ENST00000438011.1_Silent_p.S660S	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	655					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGACAAATCGCCCATCAGAT	0.597000													4	26					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183036004	183036004	+	Splice_Site	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:183036004G>C	ENST00000328913.3	-	7	902	c.603_splice	c.e7-1	p.A202_splice	MCF2L2_ENST00000414362.2_Splice_Site_p.A202_splice|MCF2L2_ENST00000473233.1_Splice_Site_p.A202_splice|MCF2L2_ENST00000447025.2_Splice_Site_p.A202_splice	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	202					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GTTTTCGATGGCCTGGAAGGT	0.458000													14	19					0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177480	89177480	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:89177480C>A	ENST00000561129.2	+	1	526	c.396C>A	c.(394-396)gcC>gcA	p.A132A	TGIF2LX_ENST00000283891.5_Silent_p.A132A			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	132						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATGCCCATGCCACCCACCTGC	0.582000													13	19					7.45023e-12	9.3703e-12	1	1	0
MAP3K4	4216	broad.mit.edu	37	6	161519335	161519335	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:161519335C>T	ENST00000392142.4	+	17	3698	c.3550C>T	c.(3550-3552)Cgg>Tgg	p.R1184W	MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1180W	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1184					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTCCGACGCGCGGAGCCATGG	0.547000													27	116					0	0	1	0	0
MMAB	326625	broad.mit.edu	37	12	110002929	110002929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:110002929G>A	ENST00000545712.2	-	4	736	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	MMAB_ENST00000540016.1_Nonsense_Mutation_p.Q63*|MMAB_ENST00000266839.5_Nonsense_Mutation_p.Q24*	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	115					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCACTTTCTGAAGCTCTTCG	0.468000													24	97					0	0	1	0	0
TAF1D	79101	broad.mit.edu	37	11	93471430	93471430	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:93471430T>A	ENST00000448108.2	-	3	954	c.304A>T	c.(304-306)Aca>Tca	p.T102S		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GGTCTTCCTGTTGGCTGGTAC	0.358000													11	148					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117622224	117622224	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:117622224C>A	ENST00000369466.3	+	9	1780	c.1736C>A	c.(1735-1737)gCt>gAt	p.A579D		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	579					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAGGCATTGGCTTGGTTACTA	0.443000													11	30					1.58986e-06	1.84081e-06	1	1	0
HCRTR2	3062	broad.mit.edu	37	6	55113517	55113517	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:55113517C>A	ENST00000370862.3	+	2	640	c.304C>A	c.(304-306)Ctc>Atc	p.L102I		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	102					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGCTGATGTGCTCGTGACCAT	0.458000													33	94					3.80469e-20	5.06578e-20	1	1	0
OR2T34	127068	broad.mit.edu	37	1	248737392	248737392	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:248737392A>G	ENST00000328782.2	-	1	688	c.667T>C	c.(667-669)Tac>Cac	p.Y223H		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAGGGTGTATGAGCTGGAG	0.562000													24	211					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768303	77768303	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:77768303A>G	ENST00000521891.2	+	10	9594	c.9146A>G	c.(9145-9147)tAc>tGc	p.Y3049C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Y3023C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Y3004C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Y3004C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3004						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGAAAGATTACTTGGCTCCG	0.517000										HNSCC(33;0.089)			10	85					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790450	4790450	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:4790450G>A	ENST00000380383.1	-	1	718	c.719C>T	c.(718-720)cCt>cTt	p.P240L	OR51F1_ENST00000343430.3_Missense_Mutation_p.P233L|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	233						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCATTCTTCAGGGGAGGCAAT	0.453000													31	82					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76326698	76326698	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:76326698T>C	ENST00000312916.7	+	1	489	c.107T>C	c.(106-108)cTg>cCg	p.L36P	AGGF1_ENST00000503538.1_Intron|AGGF1_ENST00000506806.1_Missense_Mutation_p.L36P	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	36					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GAACGTGAACTGCGGAGCTGC	0.667000													6	15					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325462	150325462	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:150325462A>G	ENST00000328902.5	-	3	440	c.224T>C	c.(223-225)gTg>gCg	p.V75A	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	75							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTCTTGGTCACGGGTCTGGT	0.577000													40	160					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57840569	57840569	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:57840569A>G	ENST00000321545.4	+	4	2084	c.1739A>G	c.(1738-1740)aAc>aGc	p.N580S		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACTTCAGTCAACATCCAGGAA	0.418000													16	56					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14280894	14280894	+	RNA	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:14280894A>T	ENST00000310358.7	+	0	2096							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CGGCATGGGCATGAGGTCCCG	0.627000													6	9					0	0	1	0	0
MID1IP1	58526	broad.mit.edu	37	X	38664362	38664362	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:38664362G>T	ENST00000336949.6	+	2	1108	c.163G>T	c.(163-165)Gag>Tag	p.E55*	MID1IP1_ENST00000378474.3_Nonsense_Mutation_p.E55*|MID1IP1_ENST00000457894.1_Nonsense_Mutation_p.E55*	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	55					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						TGTTGGCGTGGAGGTAGGCGG	0.657000													3	6					0.00909568	0.00942281	1	1	0
HIPK4	147746	broad.mit.edu	37	19	40895596	40895596	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:40895596C>T	ENST00000291823.2	-	1	498	c.214G>A	c.(214-216)Gtc>Atc	p.V72I		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	72	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AAGCGGATGACGTGGGCCTCT	0.522000													7	100					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31777849	31777849	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:31777849C>T	ENST00000375654.4	-	2	2090	c.1901G>A	c.(1900-1902)gGc>gAc	p.G634D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G634D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	634					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AATTGTGGGGCCTGTGGCAGG	0.453000													4	55					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526120	84526120	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:84526120G>T	ENST00000360700.4	+	10	2596	c.1710G>T	c.(1708-1710)atG>atT	p.M570I	ZNF711_ENST00000373165.3_Missense_Mutation_p.M524I|ZNF711_ENST00000276123.3_Missense_Mutation_p.M524I|ZNF711_ENST00000542798.1_Missense_Mutation_p.M366I|ZNF711_ENST00000395402.1_Missense_Mutation_p.M532I			Q9Y462	ZN711_HUMAN	zinc finger protein 711	524					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.M534I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGAAACATATGAGAACCCATA	0.393000													12	11					7.03913e-09	8.54389e-09	1	1	0
GAB2	9846	broad.mit.edu	37	11	77961261	77961261	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:77961261C>T	ENST00000361507.4	-	3	647	c.562G>A	c.(562-564)Gca>Aca	p.A188T	GAB2_ENST00000340149.2_Missense_Mutation_p.A150T|GAB2_ENST00000526030.1_Intron	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	188					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TCCTGAGGTGCGCTGGTGGAC	0.557000													28	115					0	0	1	0	0
GLT8D2	83468	broad.mit.edu	37	12	104397073	104397073	+	Missense_Mutation	SNP	C	C	T	rs140897214	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:104397073C>T	ENST00000360814.4	-	5	529	c.124G>A	c.(124-126)Gag>Aag	p.E42K	GLT8D2_ENST00000548660.1_Missense_Mutation_p.E42K|GLT8D2_ENST00000546436.1_Missense_Mutation_p.E42K	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	42						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TCAGGAGTCTCGGATTCATCA	0.453000													14	49					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33873837	33873837	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:33873837A>T	ENST00000389232.4	+	14	1636	c.1566A>T	c.(1564-1566)aaA>aaT	p.K522N	RYR3_ENST00000415757.3_Missense_Mutation_p.K522N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	522					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCTCTACAAATTGCTGGGTA	0.458000													4	49					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190738243	190738243	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:190738243A>T	ENST00000441310.2	+	12	2728	c.2495A>T	c.(2494-2496)tAc>tTc	p.Y832F	PMS1_ENST00000447232.2_Missense_Mutation_p.Y670F|PMS1_ENST00000418224.3_Missense_Mutation_p.Y656F|PMS1_ENST00000432292.3_Missense_Mutation_p.Y656F|PMS1_ENST00000409823.3_Missense_Mutation_p.Y793F	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	832					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACTGAAAATTACTTGGAAATA	0.279000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					14	23					0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2565886	2565886	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:2565886A>G	ENST00000222725.5	+	6	850	c.830A>G	c.(829-831)cAc>cGc	p.H277R	LFNG_ENST00000402506.1_Missense_Mutation_p.H206R|LFNG_ENST00000359574.3_Missense_Mutation_p.H277R|LFNG_ENST00000338732.3_Missense_Mutation_p.H148R|LFNG_ENST00000402045.1_Missense_Mutation_p.H148R	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	277					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		AGCGGGGGTCACTTCATGAAT	0.677000													29	34					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100020219	100020219	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:100020219C>T	ENST00000258428.3	-	19	3333	c.3105G>A	c.(3103-3105)gcG>gcA	p.A1035A	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.A1034A	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1035					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.A1035A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTGATCATACGCTGCTTTCA	0.498000								Direct reversal of damage					23	57					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9028257	9028257	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:9028257A>T	ENST00000397910.4	-	11	36738	c.36535T>A	c.(36535-36537)Tac>Aac	p.Y12179N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12181	SEA 1.				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						TCCAGGGTGTAGGGGCCCAGC	0.567000													27	226					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48530280	48530280	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:48530280G>A	ENST00000358350.4	-	51	7581	c.6977C>T	c.(6976-6978)gCt>gTt	p.A2326V	FRYL_ENST00000503238.1_Missense_Mutation_p.A2326V|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.A2326V|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2326					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTAGTGACAGCAATAACTTT	0.388000													6	29					0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132099497	132099497	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:132099497G>A	ENST00000296873.7	-	4	718	c.435C>T	c.(433-435)taC>taT	p.Y145Y	SEPT8_ENST00000378719.2_Silent_p.Y145Y|SEPT8_ENST00000458488.2_Silent_p.Y145Y|SEPT8_ENST00000448933.1_Silent_p.Y85Y|SEPT8_ENST00000378721.4_Silent_p.Y143Y|SEPT8_ENST00000378699.2_Silent_p.Y85Y|SEPT8_ENST00000378706.1_Silent_p.Y145Y|SEPT8_ENST00000378701.1_Silent_p.Y143Y	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	145					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTGTCATGGTAGTCGAAGA	0.502000											OREG0003468	type=REGULATORY REGION|Gene=LOC540614|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	27	101					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792215	143792215	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:143792215G>T	ENST00000408949.2	+	1	75	c.15G>T	c.(13-15)caG>caT	p.Q5H		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAAGCAATCAGACCTGGATCA	0.398000													13	31					1.36491e-13	1.75023e-13	1	1	0
CAMK2G	818	broad.mit.edu	37	10	75607836	75607836	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:75607836G>T	ENST00000423381.1	-	9	729	c.606C>A	c.(604-606)gtC>gtA	p.V202V	CAMK2G_ENST00000322680.3_Silent_p.V202V|CAMK2G_ENST00000322635.3_Silent_p.V202V|CAMK2G_ENST00000351293.3_Silent_p.V202V|CAMK2G_ENST00000305762.7_Silent_p.V202V|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000372765.1_Silent_p.V202V|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Silent_p.V202V	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	202	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					TATACAGGATGACCCCTACGA	0.532000													17	70					4.7546e-09	5.78289e-09	1	1	0
MMRN1	22915	broad.mit.edu	37	4	90856406	90856406	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:90856406G>T	ENST00000394980.1	+	7	1894	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.Q267H|MMRN1_ENST00000264790.2_Missense_Mutation_p.Q525H			Q13201	MMRN1_HUMAN	multimerin 1	525					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAACTGAACAGGTATCAGACC	0.363000													18	71					1.99824e-07	2.36702e-07	1	1	0
GALNT13	114805	broad.mit.edu	37	2	155295153	155295153	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:155295153T>A	ENST00000392825.3	+	12	2012	c.1445T>A	c.(1444-1446)tTg>tAg	p.L482*	GALNT13_ENST00000409237.1_Nonsense_Mutation_p.L482*|AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	482	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GACTTGTGCTTGGATGTTTCT	0.328000													5	64					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1879636	1879636	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:1879636T>C	ENST00000505790.1	-	5	1174	c.718A>G	c.(718-720)Aag>Gag	p.K240E	IRX4_ENST00000231357.2_Missense_Mutation_p.K240E|IRX4_ENST00000513692.1_Missense_Mutation_p.K240E|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	240					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TTGGAGCTCTTGAGGGGctcc	0.682000													12	23					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173352323	173352323	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:173352323T>C	ENST00000375221.2	+	17	2529	c.2326T>C	c.(2326-2328)Tgt>Cgt	p.C776R	ITGA6_ENST00000264107.7_Missense_Mutation_p.C737R|ITGA6_ENST00000409080.1_Missense_Mutation_p.C737R|ITGA6_ENST00000409532.1_Missense_Mutation_p.C618R|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Missense_Mutation_p.C776R|ITGA6_ENST00000343713.4_Missense_Mutation_p.C732R			P23229	ITA6_HUMAN	integrin, alpha 6	776					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GCAAGCTGACTGTGAGCTCGG	0.403000													12	66					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140458994	140458994	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:140458994C>A	ENST00000277540.2	-	8	998	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		CCACCCTGCACAGGCGTATCT	0.527000													10	70					6.40141e-05	7.02608e-05	1	1	0
DCT	1638	broad.mit.edu	37	13	95121241	95121241	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:95121241G>A	ENST00000377028.5	-	2	767	c.354C>T	c.(352-354)tgC>tgT	p.C118C	DCT_ENST00000446125.1_Silent_p.C118C	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	118					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCTTCCGCTCGCAGTTGGGAC	0.498000													25	131					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241714	126241714	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:126241714A>T	ENST00000394329.3	+	1	4161	c.4148A>T	c.(4147-4149)cAg>cTg	p.Q1383L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1383	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTGAAACACAGTCTTTGTAT	0.363000													36	108					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83358848	83358848	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:83358848T>A	ENST00000549919.1	+	6	3431	c.1626T>A	c.(1624-1626)caT>caA	p.H542Q	TMTC2_ENST00000548305.1_Missense_Mutation_p.H548Q|TMTC2_ENST00000321196.3_Missense_Mutation_p.H548Q			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	548						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AAGCACTACATTATTATAAAT	0.358000													10	51					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24505254	24505254	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:24505254A>G	ENST00000264463.4	-	8	1867	c.1360T>C	c.(1360-1362)Tgg>Cgg	p.W454R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	454	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGATTATGCCACTGAGATAGT	0.318000										HNSCC(23;0.051)			8	40					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829316	115829316	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:115829316T>C	ENST00000369512.2	-	3	269	c.101A>G	c.(100-102)cAa>cGa	p.Q34R	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	34					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCAGTGGGCTTGGGGGATGGT	0.592000													12	40					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31086146	31086146	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:31086146C>A	ENST00000597505.1	-	18	2460	c.2461G>T	c.(2461-2463)Ggt>Tgt	p.G821C	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGCTTCAGACCAAGGTTGCTG	0.423000													18	67					8.00594e-06	9.10011e-06	1	1	0
IQGAP1	8826	broad.mit.edu	37	15	91038012	91038012	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:91038012G>A	ENST00000268182.5	+	36	4820	c.4696G>A	c.(4696-4698)Gca>Aca	p.A1566T	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A994T	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1566	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATATACAGCAGCAAGACTACA	0.333000													14	61					0	0	1	0	0
JKAMP	51528	broad.mit.edu	37	14	59967908	59967908	+	Splice_Site	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:59967908G>A	ENST00000554271.1	+	6	1208		c.e6-1		JKAMP_ENST00000425728.2_Splice_Site|JKAMP_ENST00000356057.5_Splice_Site|JKAMP_ENST00000261247.9_Splice_Site|RP11-701B16.2_ENST00000554253.1_RNA			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein						ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TTATCTTTCAGATTACGCCTT	0.313000													4	33					0	0	1	0	0
PFDN4	5203	broad.mit.edu	37	20	52831911	52831911	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:52831911T>C	ENST00000371419.2	+	3	459	c.205T>C	c.(205-207)Tat>Cat	p.Y69H	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	69					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			AATGATACCTTATCAAATTGG	0.328000													5	51					0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136412196	136412196	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:136412196G>A	ENST00000393061.3	+	9	1559	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.G267D|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G267D			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	267					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TTCTTCAACGGCAACTACAAG	0.562000													30	182					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139395128	139395128	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:139395128C>T	ENST00000277541.6	-	31	5885	c.5810G>A	c.(5809-5811)cGc>cAc	p.R1937H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1937					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGTGAGTAGCGGGCGGCCAG	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			23	115					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64159496	64159496	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:64159496T>C	ENST00000395254.3	+	5	1452	c.1172T>C	c.(1171-1173)aTc>aCc	p.I391T	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAAGGCAACATCAGGCCCAAA	0.532000													5	43					0	0	1	0	0
TMEM59	9528	broad.mit.edu	37	1	54497896	54497896	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:54497896C>G	ENST00000371344.1	-	5	1925	c.506G>C	c.(505-507)aGa>aCa	p.R169T	TMEM59_ENST00000371341.1_Missense_Mutation_p.R169T|TMEM59_ENST00000371348.1_Missense_Mutation_p.R169T|TMEM59_ENST00000234831.5_Missense_Mutation_p.R300T|TMEM59_ENST00000470395.1_5'UTR			Q9BXS4	TMM59_HUMAN	transmembrane protein 59	300						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGTTTTAGATCTAACAACCAC	0.348000													6	15					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326568	158326568	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:158326568T>C	ENST00000444681.2	+	5	1045	c.752T>C	c.(751-753)aTg>aCg	p.M251T	CD1E_ENST00000368157.1_Missense_Mutation_p.M94T|CD1E_ENST00000368156.1_Missense_Mutation_p.M248T|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368160.3_Missense_Mutation_p.M338T|CD1E_ENST00000452291.2_Missense_Mutation_p.M161T|CD1E_ENST00000368163.3_Missense_Mutation_p.M283T|CD1E_ENST00000368165.3_Missense_Mutation_p.M260T|CD1E_ENST00000368167.3_Missense_Mutation_p.M350T|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368154.1_Missense_Mutation_p.M106T|CD1E_ENST00000368166.3_Missense_Mutation_p.M149T|CD1E_ENST00000368155.3_Missense_Mutation_p.M193T	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	350	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTCTTTCTCATGGGAGCCAAC	0.433000													19	115					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32542019	32542019	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:32542019T>C	ENST00000360538.2	-	3	2620	c.2504A>G	c.(2503-2505)aAc>aGc	p.N835S	TOPORS_ENST00000379858.1_Missense_Mutation_p.N770S	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	835	Interaction with TOP1.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.N835S(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATTTTTGTAGTTTCCATCCAA	0.413000													12	116					0	0	1	0	0
GALM	130589	broad.mit.edu	37	2	38960634	38960634	+	Missense_Mutation	SNP	G	G	A	rs116100345	by1000genomes	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:38960634G>A	ENST00000272252.5	+	7	1208	c.956G>A	c.(955-957)cGc>cAc	p.R319H	GALM_ENST00000410063.1_Missense_Mutation_p.R171H	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	319					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				TCACAGCCCCGCTTCCCTCCT	0.532000													21	84					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89345689	89345689	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:89345689C>T	ENST00000301030.4	-	9	7721	c.7261G>A	c.(7261-7263)Gcc>Acc	p.A2421T	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A2421T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2421						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCTTGATGGCGTCCACGATG	0.612000													3	8					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756150	10756150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:10756150C>T	ENST00000416569.2	-	3	1264	c.1238G>A	c.(1237-1239)tGg>tAg	p.W413*	XKR6_ENST00000304437.2_Nonsense_Mutation_p.W134*	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	413						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GATCTCCTCCCACTTGGACAT	0.488000													7	23					0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46407202	46407202	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:46407202G>T	ENST00000433765.2	-	1	905	c.906C>A	c.(904-906)acC>acA	p.T302T		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	302					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TGGTGTTCTGGGTGGCACTGC	0.697000													4	59					1.23904e-05	1.38834e-05	1	1	0
ZBTB37	84614	broad.mit.edu	37	1	173840201	173840201	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:173840201G>T	ENST00000367704.1	+	3	1237	c.838G>T	c.(838-840)Ggc>Tgc	p.G280C	ZBTB37_ENST00000432989.1_Missense_Mutation_p.G280C|ZBTB37_ENST00000367701.4_Missense_Mutation_p.G280C|ZBTB37_ENST00000427304.1_Missense_Mutation_p.G280C|ZBTB37_ENST00000367702.1_Missense_Mutation_p.G280C			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TGATACCACAGGCCATGGTTC	0.493000													4	54					0.150653	0.15181	1	1	0
C2CD3	26005	broad.mit.edu	37	11	73765676	73765676	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:73765676C>A	ENST00000334126.7	-	26	5357	c.5131G>T	c.(5131-5133)Gtc>Ttc	p.V1711F	C2CD3_ENST00000313663.7_Missense_Mutation_p.V1711F			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1711	C2 2.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACTTTGAAGACCAGGGTTTGT	0.353000													12	66					9.31168e-06	1.05538e-05	1	1	0
GOT1L1	137362	broad.mit.edu	37	8	37794833	37794833	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:37794833G>C	ENST00000307599.4	-	4	580	c.481C>G	c.(481-483)Cta>Gta	p.L161V		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	161					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TCCATGCATAGCTTCTTGGGG	0.542000													5	6					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136488	40136488	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:40136488G>A	ENST00000278198.2	-	2	3318	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	LRRC4C_ENST00000528697.1_Missense_Mutation_p.S452F|LRRC4C_ENST00000530763.1_Missense_Mutation_p.S452F|LRRC4C_ENST00000527150.1_Missense_Mutation_p.S452F			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	452					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGAAAAGTAAGAGAAAGGAGT	0.488000													33	69					0	0	1	0	0
ASB18	401036	broad.mit.edu	37	2	237103581	237103581	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:237103581G>T	ENST00000330842.6	-	5	1342	c.1248C>A	c.(1246-1248)ccC>ccA	p.P416P	AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000409749.3_Silent_p.P445P|AC079135.1_ENST00000415226.1_RNA			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	445	SOCS box.				intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		AGGGTAACAGGGGGATGAGGT	0.537000													6	16					3.59834e-05	3.97534e-05	1	1	0
GPR176	11245	broad.mit.edu	37	15	40093574	40093574	+	Missense_Mutation	SNP	G	G	A	rs150836804		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:40093574G>A	ENST00000299092.3	-	4	1502	c.1304C>T	c.(1303-1305)cCg>cTg	p.P435L	GPR176_ENST00000561100.1_Missense_Mutation_p.P436L|GPR176_ENST00000543580.1_Missense_Mutation_p.P391L	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	436					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGGGGCTGCCGGTGCCACCTG	0.577000													21	59					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113657345	113657345	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:113657345A>T	ENST00000297405.5	-	20	3547	c.3303T>A	c.(3301-3303)caT>caA	p.H1101Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.H1101Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H997Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.H1061Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1101	CUB 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCTTTTCCATGGGTTACAT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	30					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090543	238090543	+	RNA	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:238090543C>T	ENST00000450451.1	+	0	2049					NR_027247.2																						CCATCCAGCCCGTGCTATCCC	0.587000													4	63					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65022183	65022183	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:65022183A>G	ENST00000394156.3	-	7	1329	c.876T>C	c.(874-876)gcT>gcC	p.A292A	CDH11_ENST00000566827.1_Silent_p.A166A|CDH11_ENST00000268603.4_Silent_p.A292A			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	292	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGGATCTTTAGCTTTCACTC	0.408000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			19	84					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104899951	104899951	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:104899951A>G	ENST00000533400.1	-	7	941	c.906T>C	c.(904-906)tcT>tcC	p.S302S	CASP1_ENST00000598974.1_Silent_p.S302S|CASP1_ENST00000593315.1_Silent_p.S281S|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000393136.4_Silent_p.S281S|CASP1_ENST00000527979.1_Silent_p.S265S|CASP1_ENST00000436863.3_Silent_p.S302S|CASP1_ENST00000526568.1_Silent_p.S209S|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000525825.1_Silent_p.S281S|CASP1_ENST00000528974.1_Silent_p.S263S|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	302					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	ATAGGTTTCCAGAAACTCCTA	0.413000													11	29					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256362	63256362	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:63256362A>G	ENST00000323865.3	-	1	1418	c.1185T>C	c.(1183-1185)ctT>ctC	p.L395L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	395					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGACGGGGTTAAGCAGAGAGT	0.507000													33	147					0	0	1	0	0
TRIM65	201292	broad.mit.edu	37	17	73887174	73887174	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:73887174C>A	ENST00000269383.3	-	6	1305	c.1240G>T	c.(1240-1242)Gac>Tac	p.D414Y		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	414	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAATGTTGTCTGTGTGGGGC	0.701000													4	40					0.00909568	0.00942281	1	1	0
TRPV6	55503	broad.mit.edu	37	7	142569486	142569486	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:142569486C>T	ENST00000359396.3	-	15	2397	c.2152G>A	c.(2152-2154)Ggg>Agg	p.G718R		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	718					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGCTCTCCCCGTCCTCCAGA	0.527000													5	80					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	576801	576801	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:576801G>A	ENST00000230449.4	-	12	1409	c.1274C>T	c.(1273-1275)gCg>gTg	p.A425V	EXOC2_ENST00000448181.3_Missense_Mutation_p.A20V	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	425					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTCAGGGACGCTGTCTGACT	0.507000													6	45					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178410697	178410697	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:178410697G>T	ENST00000448150.3	+	7	1606	c.788G>T	c.(787-789)aGt>aTt	p.S263I	RASAL2_ENST00000367649.3_Missense_Mutation_p.S281I|RASAL2_ENST00000462775.1_Missense_Mutation_p.S133I	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	133	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ACCTACTTAAGTGGAAGTAAA	0.383000													19	32					7.45023e-12	9.3703e-12	1	1	0
SIMC1	375484	broad.mit.edu	37	5	175717418	175717418	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:175717418A>G	ENST00000443967.1	+	4	1241	c.834A>G	c.(832-834)ttA>ttG	p.L278L	SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Silent_p.L297L					SUMO-interacting motifs containing 1																		AAAGCATATTACATCCACAAG	0.542000													7	29					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	13					0.000274275	0.000295277	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99772192	99772192	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:99772192G>A	ENST00000370185.3	+	7	2415	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	LPPR4_ENST00000370184.1_Missense_Mutation_p.E482K|LPPR4_ENST00000457765.1_Missense_Mutation_p.E582K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		640							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCCGTCCACTGAAGGTGAAGG	0.537000													11	29					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717407	142717407	+	Silent	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:142717407G>A	ENST00000381779.4	-	2	1743	c.1518C>T	c.(1516-1518)aaC>aaT	p.N506N	SLITRK4_ENST00000338017.4_Silent_p.N506N|SLITRK4_ENST00000356928.1_Silent_p.N506N	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	506						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACATGAATTTGTTGTTCCTCA	0.448000													25	93					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110236656	110236656	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:110236656C>T	ENST00000418703.2	-	5	1009	c.915G>A	c.(913-915)acG>acA	p.T305T	TRPV4_ENST00000541794.1_Silent_p.T258T|TRPV4_ENST00000544971.1_Silent_p.T258T|TRPV4_ENST00000537083.1_Silent_p.T305T|TRPV4_ENST00000392719.2_Silent_p.T258T|TRPV4_ENST00000536838.1_Silent_p.T271T|TRPV4_ENST00000346520.2_Silent_p.T305T|TRPV4_ENST00000261740.2_Silent_p.T305T	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	305					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGGGGTTCTCCGTCAGGTAGT	0.647000													29	42					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55532222	55532222	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:55532222C>A	ENST00000219070.4	+	11	2140	c.1631C>A	c.(1630-1632)tCa>tAa	p.S544*	MMP2_ENST00000570308.1_Nonsense_Mutation_p.S468*|MMP2_ENST00000543485.1_Nonsense_Mutation_p.S468*|MMP2_ENST00000437642.2_Nonsense_Mutation_p.S494*	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	544	Hemopexin-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGGATCTACTCAGCCAGCACC	0.587000													7	33					0.000157383	0.000170993	1	1	0
RNF128	79589	broad.mit.edu	37	X	106033443	106033443	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:106033443C>T	ENST00000255499.2	+	5	1165	c.915C>T	c.(913-915)gaC>gaT	p.D305D	RNF128_ENST00000324342.3_Silent_p.D279D	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	305						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CATGTGTTGACCCATGGCTGT	0.323000													7	49					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166981331	166981331	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:166981331A>T	ENST00000061240.2	+	15	2645	c.1998A>T	c.(1996-1998)gaA>gaT	p.E666D	TLL1_ENST00000507499.1_Missense_Mutation_p.E689D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	666	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTGAATTGGAAGGCAATGAAG	0.363000													9	37					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114401078	114401078	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:114401078T>C	ENST00000536312.1	-	6	1544	c.652A>G	c.(652-654)Act>Gct	p.T218A	NXPE1_ENST00000424269.1_Missense_Mutation_p.T218A|NXPE1_ENST00000251921.2_Missense_Mutation_p.T76A					neurexophilin and PC-esterase domain family, member 1																		CCACATTCAGTGAAGACATGA	0.458000													15	55					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136324131	136324131	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:136324131T>C	ENST00000394945.1	-	8	1077	c.908A>G	c.(907-909)tAc>tGc	p.Y303C	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Missense_Mutation_p.Y303C	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	303					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGGAAGCAGTAGCACCACTC	0.522000													15	54					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73657775	73657775	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:73657775C>T	ENST00000420326.2	-	5	944	c.785G>A	c.(784-786)gGc>gAc	p.G262D	RECQL5_ENST00000423245.2_Missense_Mutation_p.G235D|RECQL5_ENST00000584999.1_Missense_Mutation_p.G262D|RECQL5_ENST00000340830.5_Missense_Mutation_p.G262D|RECQL5_ENST00000317905.5_Missense_Mutation_p.G262D	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	262	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTACACAATGCCGCAGCCAGA	0.512000								Other identified genes with known or suspected DNA repair function					4	59					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122775152	122775152	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:122775152G>T	ENST00000227349.2	+	3	1161	c.864_splice	c.e3+1	p.Q288_splice	C11orf63_ENST00000307257.6_Splice_Site_p.Q288_splice|C11orf63_ENST00000531316.1_Splice_Site_p.Q288_splice	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	288										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ATCCAGAACAGGTACGTAGTG	0.388000													36	117					2.42023e-17	3.17941e-17	1	1	0
MTRF1	9617	broad.mit.edu	37	13	41814395	41814395	+	Splice_Site	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:41814395A>G	ENST00000379480.4	-	6	971		c.e6+1		MTRF1_ENST00000430347.2_Splice_Site|MTRF1_ENST00000379477.1_Splice_Site	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1						regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TCCTGAGGTTACCTCATCTGG	0.502000													22	62					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20666449	20666449	+	RNA	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:20666449A>G	ENST00000428453.1	-	0	869																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTTACTGGCACATTCAATCT	0.438000													5	46					0	0	1	0	0
ETNPPL	64850	broad.mit.edu	37	4	109677636	109677636	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:109677636G>T	ENST00000296486.3	-	4	502	c.348C>A	c.(346-348)aaC>aaA	p.N116K	ETNPPL_ENST00000512646.1_Missense_Mutation_p.N58K|ETNPPL_ENST00000510706.1_Missense_Mutation_p.N76K|ETNPPL_ENST00000411864.2_Missense_Mutation_p.N110K	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		AGGCTAAGTCGTTGGCTTCGG	0.468000													6	21					2.0095e-06	2.31308e-06	1	1	0
BPHL	670	broad.mit.edu	37	6	3129350	3129350	+	Silent	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:3129350A>T	ENST00000380368.2	+	5	1043	c.399A>T	c.(397-399)gcA>gcT	p.A133A	BPHL_ENST00000380379.5_Silent_p.A150A|BPHL_ENST00000380375.3_Silent_p.A133A|BPHL_ENST00000434640.1_Silent_p.A133A			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	150					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TTGCTGCTGCAAAATATCCAT	0.507000													45	29					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39596688	39596688	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:39596688T>A	ENST00000246646.3	-	1	485	c.486A>T	c.(484-486)caA>caT	p.Q162H		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	162	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCACCTTCTGTTGGAGCTCCT	0.567000													13	71					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961569	34961569	+	Silent	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:34961569G>T	ENST00000329357.5	+	1	657	c.621G>T	c.(619-621)ccG>ccT	p.P207P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	207	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAAGACTCCGGTGTCCAGTC	0.652000													12	20					6.40141e-05	7.02608e-05	1	1	0
SYNRG	11276	broad.mit.edu	37	17	35928998	35928998	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:35928998T>C	ENST00000339208.6	-	11	1516	c.1376A>G	c.(1375-1377)cAg>cGg	p.Q459R	SYNRG_ENST00000585472.1_Missense_Mutation_p.Q380R|SYNRG_ENST00000502449.2_Missense_Mutation_p.Q381R|SYNRG_ENST00000346661.4_Missense_Mutation_p.Q459R|SYNRG_ENST00000394378.2_Missense_Mutation_p.Q381R|SYNRG_ENST00000345615.4_Missense_Mutation_p.Q381R|SYNRG_ENST00000591288.1_Missense_Mutation_p.Q298R|SYNRG_ENST00000588194.1_5'UTR	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	459					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGAAAATCCTGGAAGTCATC	0.363000													16	68					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9781262	9781262	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:9781262C>T	ENST00000383829.2	+	3	1583	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	BRPF1_ENST00000302054.3_Silent_p.G393G|BRPF1_ENST00000457855.1_Silent_p.G393G|BRPF1_ENST00000433861.2_Silent_p.G393G|BRPF1_ENST00000424362.1_Silent_p.G393G	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	393					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)					AACAACGGGGCTCAGGGGCCT	0.557000													6	64					0	0	1	0	0
ECHDC3	79746	broad.mit.edu	37	10	11797413	11797413	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:11797413A>G	ENST00000379215.4	+	4	608	c.397A>G	c.(397-399)Atg>Gtg	p.M133V	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969.2	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	133						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						GCAGGTCATGATGCACATCCG	0.532000													5	73					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235826260	235826260	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:235826260T>C	ENST00000389794.3	-	53	11560	c.11386A>G	c.(11386-11388)Agc>Ggc	p.S3796G	LYST_ENST00000389793.2_Missense_Mutation_p.S3796G|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3796					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCATAGCTGCTAAGGAAGGAA	0.473000													8	161					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22214083	22214083	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:22214083A>G	ENST00000374695.3	-	8	867	c.788T>C	c.(787-789)aTg>aCg	p.M263T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	263					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGCTGTCGCATGATGGTTGT	0.637000													5	55					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104508420	104508420	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:104508420G>T	ENST00000409874.4	+	34	3918	c.3870G>T	c.(3868-3870)agG>agT	p.R1290S	TDRD9_ENST00000339063.5_Missense_Mutation_p.R1099S	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1290					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATATTCTCAGGGCTGCTATTA	0.433000													15	22					6.31663e-08	7.54291e-08	1	1	0
RANBP3L	202151	broad.mit.edu	37	5	36249757	36249757	+	Nonstop_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:36249757C>A	ENST00000296604.3	-	14	1882	c.1397G>T	c.(1396-1398)tGa>tTa	p.*466L	RANBP3L_ENST00000502994.1_Nonstop_Mutation_p.*491L	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	0					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AGGTAGTATTCATGAACAGGC	0.323000													10	42					2.10051e-16	2.7411e-16	1	1	0
TP53	7157	broad.mit.edu	37	17	7578236	7578236	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:7578236A>G	ENST00000420246.2	-	6	745	c.613T>C	c.(613-615)Tat>Cat	p.Y205H	TP53_ENST00000269305.4_Missense_Mutation_p.Y205H|TP53_ENST00000413465.2_Missense_Mutation_p.Y205H|TP53_ENST00000359597.4_Missense_Mutation_p.Y205H|TP53_ENST00000445888.2_Missense_Mutation_p.Y205H|TP53_ENST00000455263.2_Missense_Mutation_p.Y205H|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205D(13)|p.0?(8)|p.Y205N(8)|p.?(5)|p.Y205H(5)|p.Y112N(2)|p.Y73N(2)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCATCCAAATACTCCACACGC	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	16					0	0	1	0	0
PACRGL	133015	broad.mit.edu	37	4	20706396	20706396	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:20706396C>T	ENST00000360916.5	+	3	557	c.166C>T	c.(166-168)Cct>Tct	p.P56S	PACRGL_ENST00000513459.1_Missense_Mutation_p.P56S|PACRGL_ENST00000295290.8_Missense_Mutation_p.P56S|PACRGL_ENST00000507634.1_Missense_Mutation_p.P56S|PACRGL_ENST00000538990.1_Missense_Mutation_p.P56S|PACRGL_ENST00000444671.2_Missense_Mutation_p.P56S|PACRGL_ENST00000503585.1_Missense_Mutation_p.P56S|PACRGL_ENST00000502938.1_Missense_Mutation_p.P56S|PACRGL_ENST00000502374.1_Missense_Mutation_p.P56S	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	56							binding			endometrium(2)|lung(7)|prostate(1)	10						AAAACTTCATCCTAGACCAAG	0.393000													8	48					0	0	1	0	0
PSMC4	5704	broad.mit.edu	37	19	40487098	40487098	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:40487098G>T	ENST00000157812.2	+	11	1341		c.e11-1		PSMC4_ENST00000455878.2_Splice_Site	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCCTTCAACAGAGTGGAATGT	0.493000													12	43					1.05317e-09	1.29427e-09	1	1	0
ACAD9	28976	broad.mit.edu	37	3	128623263	128623263	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:128623263T>C	ENST00000308982.7	+	11	1145	c.1064T>C	c.(1063-1065)gTc>gCc	p.V355A	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	355						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AAGGCTTACGTCATGGAGAGT	0.498000													21	57					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547904	43547904	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr21:43547904G>A	ENST00000400427.1	+	19	4217	c.3821G>A	c.(3820-3822)cGc>cAc	p.R1274H	UMODL1_ENST00000408989.2_Missense_Mutation_p.R1346H|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.1_Missense_Mutation_p.R1146H|UMODL1_ENST00000408910.2_Missense_Mutation_p.R1218H	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1218						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCAAACTCCGCGTCTGCATG	0.468000													10	38					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1464569	1464569	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:1464569A>G	ENST00000308219.9	+	7	955	c.569A>G	c.(568-570)gAg>gGg	p.E190G	BRSK2_ENST00000382179.1_Missense_Mutation_p.E236G|BRSK2_ENST00000308230.5_Missense_Mutation_p.E190G|BRSK2_ENST00000526678.1_Missense_Mutation_p.E190G|BRSK2_ENST00000528841.1_Missense_Mutation_p.E190G|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000531197.1_Missense_Mutation_p.E190G|BRSK2_ENST00000528710.1_Missense_Mutation_p.E130G	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	190	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CCACAGGGGGAGAAGTATGAC	0.716000													3	5					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80808944	80808944	+	Splice_Site	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:80808944G>T	ENST00000466387.1	+	18	2731	c.2007_splice	c.e18+1	p.R669_splice	CTNNA2_ENST00000343114.3_Splice_Site_p.R348_splice|CTNNA2_ENST00000361291.4_Splice_Site_p.R703_splice|CTNNA2_ENST00000402739.4_Splice_Site_p.R669_splice|CTNNA2_ENST00000541047.1_Splice_Site_p.R669_splice|CTNNA2_ENST00000540488.1_Splice_Site_p.R669_splice|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Splice_Site_p.R669_splice			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	669					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGAGCGCACGGGTGAGTGGAC	0.493000													3	29					0.115264	0.116847	1	1	0
IQCF3	401067	broad.mit.edu	37	3	51864635	51864635	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:51864635A>G	ENST00000456080.1	+	8	1448	c.283A>G	c.(283-285)Aag>Gag	p.K95E	IQCF3_ENST00000446775.1_Missense_Mutation_p.K95E|IQCF3_ENST00000444293.1_Missense_Mutation_p.Q58R|IQCF3_ENST00000440739.2_Missense_Mutation_p.K95E|IQCF3_ENST00000437810.2_Missense_Mutation_p.K95E|IQCF3_ENST00000462079.1_3'UTR			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	95	IQ.									endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCGACGGTCAAGCTCCAGTC	0.597000													4	37					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582643	55582643	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:55582643A>G	ENST00000361849.3	-	34	5243	c.4849T>C	c.(4849-4851)Tgt>Cgt	p.C1617R	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.C1592R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.C1575R|PCDH15_ENST00000320301.6_Missense_Mutation_p.C1615R|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.C1612R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.C1546R|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1615					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)				TTGTTTGTACAGATTCCAGTG	0.428000										HNSCC(58;0.16)			16	108					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27480569	27480569	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:27480569C>T	ENST00000263980.3	-	1	832	c.257G>A	c.(256-258)cGc>cAc	p.R86H	SLC9A1_ENST00000545949.1_5'UTR|SLC9A1_ENST00000374086.3_Missense_Mutation_p.R86H	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	86					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.R86H(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AAAGGCCTTGCGCGGCTTCAT	0.587000													8	54					0	0	1	0	0
TNNT1	7138	broad.mit.edu	37	19	55656924	55656924	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:55656924C>T	ENST00000588981.1	-	6	320	c.116G>A	c.(115-117)cGc>cAc	p.R39H	TNNT1_ENST00000356783.5_Missense_Mutation_p.R28H|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000587758.1_Missense_Mutation_p.R28H|TNNT1_ENST00000536926.1_Intron|TNNT1_ENST00000291901.8_Missense_Mutation_p.R39H|TNNT1_ENST00000592920.1_5'UTR	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	39					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TGGTTTGGGGCGTTCCTCTTC	0.542000													41	102					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763648	82763648	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr7:82763648G>T	ENST00000423517.2	-	3	3555	c.3218C>A	c.(3217-3219)cCt>cAt	p.P1073H	PCLO_ENST00000333891.8_Missense_Mutation_p.P1073H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1019					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGTTAGGAGGATCCTTAGA	0.403000													3	14					0.115264	0.116847	1	1	0
ZNF625	90589	broad.mit.edu	37	19	12256520	12256520	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:12256520A>G	ENST00000355738.1	-	4	862	c.513T>C	c.(511-513)caT>caC	p.H171H	ZNF625_ENST00000439556.2_Silent_p.H237H|ZNF625_ENST00000542938.1_Silent_p.H171H|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						GAGTTCTTTCATGTATTCGAA	0.413000													21	82					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626899	108626899	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:108626899G>T	ENST00000264047.2	+	9	1601	c.1325G>T	c.(1324-1326)gGc>gTc	p.G442V	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G337V|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G442V	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	442					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TATGTTTCTGGCCTCTTCCTG	0.453000													23	60					3.08376e-08	3.69363e-08	1	1	0
ATXN1	6310	broad.mit.edu	37	6	16326806	16326806	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:16326806A>G	ENST00000244769.4	-	8	2672	c.1736T>C	c.(1735-1737)aTc>aCc	p.I579T	ATXN1_ENST00000436367.1_Missense_Mutation_p.I579T	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	579	AXH.|Interaction with USP7.|RNA-binding.|Self-association.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CAACTGGATGATGGAGCCTTT	0.572000													17	78					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182605387	182605387	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr3:182605387G>A	ENST00000323116.5	+	24	2989	c.2729G>A	c.(2728-2730)aGc>aAc	p.S910N		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	910					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTGTATGACAGCGTGTACCTG	0.313000													19	70					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454373	84454373	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:84454373C>T	ENST00000377084.2	-	1	2155	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	424						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CACCTGAGGTCCAAAAGGTTC	0.468000													36	117					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53384157	53384157	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:53384157T>C	ENST00000595635.1	-	8	1723	c.1222A>G	c.(1222-1224)Act>Gct	p.T408A	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.T408A	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TTCTCTCCAGTATGAAGTTTT	0.388000													11	48					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10318842	10318842	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:10318842C>A	ENST00000403437.2	-	7	689	c.595G>T	c.(595-597)Gca>Tca	p.A199S	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	199	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCAATTGTTGCAAAGTATTGG	0.463000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				24	48					7.07758e-08	8.44305e-08	1	1	0
TMEM182	130827	broad.mit.edu	37	2	103414332	103414332	+	Silent	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:103414332T>C	ENST00000412401.2	+	4	547	c.342T>C	c.(340-342)ggT>ggC	p.G114G	TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409528.1_Silent_p.G18G|TMEM182_ENST00000409173.1_Silent_p.G71G	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	114						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TTTACCGTGGTTTCTGGGCAG	0.463000													14	44					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31939953	31939953	+	Silent	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:31939953C>A	ENST00000375331.2	+	1	346	c.180C>A	c.(178-180)atC>atA	p.I60I	DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Silent_p.I60I|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	60						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GGGAGCCAATCCGCGGCCGGC	0.706000													23	51					0.000229342	0.000248489	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1269131	1269131	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:1269131C>A	ENST00000447027.1	+	31	11088	c.11030C>A	c.(11029-11031)aCc>aAc	p.T3677N	MUC5B_ENST00000529681.1_Missense_Mutation_p.T3674N|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3674	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCCCCAGCACCCCGGCCACC	0.597000													18	78					2.89027e-11	3.6159e-11	1	1	0
DBF4B	80174	broad.mit.edu	37	17	42807349	42807349	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:42807349G>T	ENST00000315005.3	+	4	440	c.302G>T	c.(301-303)gGg>gTg	p.G101V	DBF4B_ENST00000398338.3_Missense_Mutation_p.G101V|DBF4B_ENST00000393547.2_Missense_Mutation_p.G101V|DBF4B_ENST00000526915.1_3'UTR	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	101	BRCT.				cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GAGAGCAGTGGGAAAAGCCAT	0.537000													5	41					1.024e-07	1.22033e-07	1	1	0
PCNX	22990	broad.mit.edu	37	14	71575562	71575562	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:71575562C>T	ENST00000304743.2	+	34	6989	c.6543C>T	c.(6541-6543)agC>agT	p.S2181S	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Silent_p.S2109S|PCNX_ENST00000439984.3_Silent_p.S2070S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2181	Ser-rich.					integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGGTCAGAGCGGCCTGGCCT	0.567000													5	40					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763165	43763165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:43763165G>A	ENST00000418820.2	-	3	651	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	PSG9_ENST00000443718.3_Nonsense_Mutation_p.Q185*|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000270077.3_Nonsense_Mutation_p.Q278*			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	185	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGGAGGCTCTGACCGTTTAGC	0.478000													59	252					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4941903	4941903	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:4941903T>C	ENST00000345988.2	-	16	1966	c.1877A>G	c.(1876-1878)gAg>gGg	p.E626G	PPL_ENST00000590782.2_Missense_Mutation_p.E624G	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	626					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGCCAGCAACTCCCAGCTCTG	0.627000													6	73					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100844812	100844812	+	Silent	SNP	A	A	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:100844812A>G	ENST00000358544.2	+	52	9732	c.9621A>G	c.(9619-9621)agA>agG	p.R3207R	VPS13B_ENST00000357162.2_Silent_p.R3182R|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3207					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTATAGTTAGACCAGAGTTTC	0.483000													9	42					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003980	74003980	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:74003980C>T	ENST00000301607.3	-	22	5559	c.5306G>A	c.(5305-5307)gGc>gAc	p.G1769D	EVPL_ENST00000586740.1_Missense_Mutation_p.G1791D	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1769	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGCAGGTGGCCGTCCTTGTA	0.617000													4	30					0	0	1	0	0
C11orf88	399949	broad.mit.edu	37	11	111386831	111386831	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:111386831A>T	ENST00000529167.1	+	3	335	c.335A>T	c.(334-336)cAa>cTa	p.Q112L	RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Missense_Mutation_p.Q112L|C11orf88_ENST00000332814.6_Missense_Mutation_p.Q112L			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	112										endometrium(1)|large_intestine(3)|lung(2)	6						AAGTATCTCCAAAAGGTAGGC	0.308000													5	62					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760409	133760409	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:133760409G>T	ENST00000318560.5	+	11	3113	c.2732G>T	c.(2731-2733)gGa>gTa	p.G911V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	911	DNA-binding (By similarity).|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GGGAAGGCTGGAGGAAAGCCC	0.642000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								7	15					1	1	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3046418	3046418	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:3046418C>T	ENST00000602557.1	-	36	6072	c.5517G>A	c.(5515-5517)tcG>tcA	p.S1839S	CSMD1_ENST00000520002.1_Silent_p.S1839S|CSMD1_ENST00000400186.3_Silent_p.S1839S|CSMD1_ENST00000539096.1_Silent_p.S1838S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.S1839S|CSMD1_ENST00000542608.1_Silent_p.S1838S|CSMD1_ENST00000537824.1_Silent_p.S1838S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1839	CUB 11.					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)		CCTGAATTCCCGAGCCCTCCG	0.468000													3	7					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21859696	21859696	+	Silent	SNP	T	T	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:21859696T>A	ENST00000434536.1	+	25	2985	c.2883T>A	c.(2881-2883)cgT>cgA	p.R961R	XPO7_ENST00000252512.9_Silent_p.R952R|XPO7_ENST00000433566.4_Silent_p.R953R			Q9UIA9	XPO7_HUMAN	exportin 7	952					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGCTGTCACGTAGCACCAAGA	0.537000													4	7					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79898509	79898509	+	Silent	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr9:79898509C>T	ENST00000360280.3	+	31	3542	c.3282C>T	c.(3280-3282)aaC>aaT	p.N1094N	VPS13A_ENST00000376634.4_Silent_p.N1094N|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Silent_p.N1094N|VPS13A_ENST00000376636.3_Silent_p.N1055N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1094					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGAAATAAACGCAAAGCTAA	0.284000													8	25					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	7866286	7866286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:7866286C>T	ENST00000344293.5	+	2	378	c.172C>T	c.(172-174)Cga>Tga	p.R58*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	58					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTCAGATGGCCGAACAGACCC	0.353000													15	125					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59560342	59560342	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:59560342G>A	ENST00000393853.4	+	9	1269	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.R368H			P57082	TBX4_HUMAN	T-box 4	368					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CACTATTTCCGTTCCCCCCCT	0.562000													13	18					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1961597	1961598	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:1961597_1961598insG	ENST00000378585.4	+	9	1318_1319	c.1235_1236insG	c.(1234-1236)cggfs	p.R412fs		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	412						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCAGGAGGCCAGGGGGGCATCC	0.678													11	43	---	---	---	---					
MASP2	10747	broad.mit.edu	37	1	11107022	11107023	+	Frame_Shift_Ins	INS	-	-	G	rs146071877		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:11107022_11107023insG	ENST00000400897.3	-	2	174_175	c.159_160insC	c.(157-162)ccgctafs	p.L54fs	MASP2_ENST00000400898.3_Frame_Shift_Ins_p.L54fs	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	54	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGGCGGTAGCCGGGGGGTGCAG	0.663													2	4	---	---	---	---					
DLGAP3	58512	broad.mit.edu	37	1	35370730	35370731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:35370730_35370731insC	ENST00000373347.1	-	3	522_523	c.254_255insG	c.(253-255)gagfs	p.E85fs	DLGAP3_ENST00000235180.4_Frame_Shift_Ins_p.E85fs			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	85					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AGGTGCTGCTACCCCCCCCAAC	0.703													2	4	---	---	---	---					
C1orf168	199920	broad.mit.edu	37	1	57209836	57209836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:57209836delG	ENST00000343433.6	-	10	1571	c.1491delC	c.(1489-1491)tcfs	p.S497fs	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	497										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCTCTTTCCTGGAGTACTCGA	0.418													25	77	---	---	---	---					
ST6GALNAC3	256435	broad.mit.edu	37	1	76877904	76877905	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:76877904_76877905insT	ENST00000328299.3	+	3	573_574	c.425_426insT	c.(424-426)tttfs	p.F142fs	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	142					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AACCCTGATTATTTTTTCAAGG	0.411													26	68	---	---	---	---					
STXBP3	6814	broad.mit.edu	37	1	109338865	109338866	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:109338865_109338866insT	ENST00000370008.3	+	14	1170_1171	c.1120_1121insT	c.(1120-1122)tggfs	p.W374fs		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	374					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GGACCTGGCACTTGGAACTGAT	0.351													17	32	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													7	48	---	---	---	---					
HIST2H2BB	338391	broad.mit.edu	37	1	149375131	149375131	+	RNA	DEL	C	C	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:149375131delC	ENST00000415338.1	-	0	1061																											TTAAGTTTTTCCACTGGAATT	0.453													16	105	---	---	---	---					
C1orf51	148523	broad.mit.edu	37	1	150255794	150255794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:150255794delG	ENST00000290363.5	+	1	566	c.117delG	c.(115-117)aafs	p.K39fs	C1orf51_ENST00000369095.1_Frame_Shift_Del_p.K39fs|C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Intron	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	39										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGAGGACAAGGGGGCCCATG	0.592													40	154	---	---	---	---					
CD5L	922	broad.mit.edu	37	1	157803024	157803025	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:157803024_157803025insA	ENST00000368174.4	-	5	1092_1093	c.996_997insT	c.(994-999)ttacgafs	p.LR332fs		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	332	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTGCAGTCGTGAAACCCCCAAA	0.550													14	117	---	---	---	---					
AXDND1	126859	broad.mit.edu	37	1	179399628	179399629	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:179399628_179399629insT	ENST00000367618.3	+	14	1761_1762	c.1374_1375insT	c.(1372-1377)aaggagfs	p.KE458fs	AXDND1_ENST00000457238.2_Frame_Shift_Ins_p.KE458fs|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	458										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGACACAAAAATGGAGAAACTT	0.322													13	60	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181764117	181764118	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:181764117_181764118insC	ENST00000526775.1	+	44	6124_6125	c.5959_5960insC	c.(5959-5961)ccgfs	p.P1987fs	CACNA1E_ENST00000367567.4_Frame_Shift_Ins_p.P1613fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.P2030fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.P2006fs|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.P2000fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.P2049fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.P1938fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2049					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TACCTACAAGTCCCGTCGCCGG	0.520													7	50	---	---	---	---					
PTPRC	5788	broad.mit.edu	37	1	198725188	198725189	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:198725188_198725189insC	ENST00000367376.2	+	33	3964_3965	c.3793_3794insC	c.(3793-3795)cccfs	p.P1265fs	PTPRC_ENST00000442510.2_Frame_Shift_Ins_p.P1267fs|PTPRC_ENST00000594404.1_Frame_Shift_Ins_p.P1104fs|PTPRC_ENST00000348564.6_Frame_Shift_Ins_p.P1106fs|PTPRC_ENST00000352140.3_Frame_Shift_Ins_p.P1217fs	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1265					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.A1265T(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCCACTTGGTGCCCCAGAAAAG	0.436													17	114	---	---	---	---					
TRIM17	51127	broad.mit.edu	37	1	228596778	228596779	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:228596778_228596779insC	ENST00000456946.2	-	6	1352_1353	c.977_978insG	c.(976-978)gtcfs	p.V326fs	TRIM17_ENST00000366698.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000295033.3_Intron	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S327fs*8(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CACTTGTAGAACCCCCCCCATT	0.569													7	47	---	---	---	---					
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527													10	116	---	---	---	---					
GTF3C2	2976	broad.mit.edu	37	2	27566406	27566406	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:27566406delC	ENST00000359541.2	-	2	445	c.16delG	c.(16-18)tcfs	p.V6fs	GTF3C2_ENST00000264720.3_Frame_Shift_Del_p.V6fs			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	6						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATAGCCGACCCCGCAGGTA	0.527													7	103	---	---	---	---					
OR7E62P	26479	broad.mit.edu	37	2	71283122	71283123	+	RNA	INS	-	-	T	rs35074164		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:71283122_71283123insT	ENST00000434990.1	-	0	61																											GGCACCACCCCCAGGAGTGGTG	0.530													4	6	---	---	---	---					
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:74687542_74687543insC	ENST00000393972.3	+	5	849_850	c.646_647insC	c.(646-648)cccfs	p.P216fs	WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs|WBP1_ENST00000494741.1_3'UTR			Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													10	121	---	---	---	---					
RNF103	7844	broad.mit.edu	37	2	86831014	86831015	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:86831014_86831015insT	ENST00000237455.4	-	4	2977_2978	c.2009_2010insA	c.(2008-2010)acafs	p.T670fs	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	670					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CATATGGCTGCTTTTTTTTATA	0.441													14	95	---	---	---	---					
RBM43	375287	broad.mit.edu	37	2	152112047	152112048	+	Splice_Site	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:152112047_152112048insT	ENST00000331426.5	-	2	364_365	c.214_splice	c.e2+1	p.NC71_splice		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	71	RRM.						nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCTT	0.287													23	95	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152534572	152534573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:152534572_152534573insT	ENST00000427231.2	-	33	3586_3587	c.3384_3385insA	c.(3382-3387)aaactafs	p.L1129fs	NEB_ENST00000172853.10_Frame_Shift_Ins_p.L1129fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.L1129fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.L1129fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.L1129fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.L1129fs	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1129					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTCATAGTCTTTTTTATACT	0.416													8	39	---	---	---	---					
ABCB11	8647	broad.mit.edu	37	2	169801236	169801237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:169801236_169801237insT	ENST00000263817.6	-	21	2612_2613	c.2488_2489insA	c.(2488-2490)gctfs	p.A830fs		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	830	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTTACGTAGCCTTTTTGTTAGG	0.396													16	74	---	---	---	---					
SSB	6741	broad.mit.edu	37	2	170665007	170665008	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:170665007_170665008insA	ENST00000409333.1	+	7	817_818	c.570_571insA	c.(568-573)gcaaaafs	p.AK190fs	SSB_ENST00000260956.4_Frame_Shift_Ins_p.AK190fs			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	190					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATTACTTTGCCAAAAAAAATGA	0.322													8	43	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171073882	171073883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:171073882_171073883insC	ENST00000334231.6	+	6	607_608	c.607_608insC	c.(607-609)cccfs	p.P203fs	MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.P194fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P194fs|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	194	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATCTGTTGGCACCCCGTTCTGG	0.436													10	195	---	---	---	---					
PSMD1	5707	broad.mit.edu	37	2	231931679	231931680	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr2:231931679_231931680insA	ENST00000308696.6	+	5	526_527	c.364_365insA	c.(364-366)aaafs	p.K122fs	PSMD1_ENST00000373635.4_Frame_Shift_Ins_p.K122fs|PSMD1_ENST00000409643.1_Frame_Shift_Ins_p.K122fs	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	122					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.K124fs*11(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCCTGAAGGAGAAAAAAAACCA	0.366													7	33	---	---	---	---					
ARHGAP24	83478	broad.mit.edu	37	4	86916559	86916560	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:86916559_86916560insG	ENST00000395184.1	+	9	2218_2219	c.1752_1753insG	c.(1750-1755)ttggggfs	p.LG584fs	ARHGAP24_ENST00000395183.2_Frame_Shift_Ins_p.LG489fs|ARHGAP24_ENST00000264343.4_Frame_Shift_Ins_p.LG491fs	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	584					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGACTTTTTTGGGGGGAACTT	0.559													17	55	---	---	---	---					
LOC90768	90768	broad.mit.edu	37	4	182827059	182827059	+	RNA	DEL	A	A	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr4:182827059delA	ENST00000509012.1	-	0	378																											CATTAAGTGCAAGCTCAGCAG	0.388													15	60	---	---	---	---					
C5orf42	65250	broad.mit.edu	37	5	37183684	37183685	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:37183684_37183685insT	ENST00000274258.7	-	26	4828_4829	c.1241_1242insA	c.(1240-1242)aacfs	p.N414fs	C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.N1533fs|C5orf42_ENST00000508244.1_Frame_Shift_Ins_p.N1533fs			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1533										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAGGAAGTGTATTTTGTGATAA	0.302													12	33	---	---	---	---					
DEPDC1B	55789	broad.mit.edu	37	5	59982868	59982869	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:59982868_59982869insT	ENST00000265036.5	-	2	301_302	c.234_235insA	c.(232-237)aatcctfs	p.NP78fs	DEPDC1B_ENST00000545085.1_Frame_Shift_Ins_p.NP51fs|DEPDC1B_ENST00000453022.2_Frame_Shift_Ins_p.NP78fs	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	78	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTCTTCAGGAATTTTTTTAGCA	0.465													39	120	---	---	---	---					
LMNB1	4001	broad.mit.edu	37	5	126154676	126154677	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:126154676_126154677delCT	ENST00000261366.5	+	6	1363_1364	c.1002_1003delCT	c.(1000-1005)aactfs	p.NS334fs	LMNB1_ENST00000395354.1_Frame_Shift_Del_p.NS334fs|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	334	Coil 2.|Rod.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		AAAAAGACAACTCTCGTCGCAT	0.391													22	62	---	---	---	---					
PCDHB6	56130	broad.mit.edu	37	5	140531175	140531175	+	Frame_Shift_Del	DEL	T	T	-	rs246707	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr5:140531175delT	ENST00000231136.1	+	1	1337	c.1337delT	c.(1336-1338)gcfs	p.V446fs	PCDHB6_ENST00000543635.1_Frame_Shift_Del_p.V310fs	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		446	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGACAACGTCCCCGCCTTC	0.582													37	96	---	---	---	---					
KIAA0319	9856	broad.mit.edu	37	6	24601319	24601320	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:24601319_24601320insG	ENST00000378214.3	-	2	536_537	c.12_13insC	c.(10-15)cccaggfs	p.R5fs	KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000537886.1_Frame_Shift_Ins_p.R5fs|KIAA0319_ENST00000543707.1_Frame_Shift_Ins_p.R5fs|KIAA0319_ENST00000535378.1_5'UTR	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	5					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGCACACCTGTGGGGGGCGCCA	0.525													8	129	---	---	---	---					
OR2J1	442185	broad.mit.edu	37	6	29068729	29068729	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr6:29068729delA	ENST00000377171.3	+	1	344	c.10delA	c.(10-12)aafs	p.K5fs						olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene)											breast(1)|lung(6)	7						AATGTTGATGAAAAAAAATGC	0.358													11	64	---	---	---	---					
NSMCE2	286053	broad.mit.edu	37	8	126194363	126194364	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr8:126194363_126194364insA	ENST00000287437.3	+	5	499_500	c.283_284insA	c.(283-285)aaafs	p.K95fs	NSMCE2_ENST00000522563.1_Frame_Shift_Ins_p.K95fs|NSMCE2_ENST00000517315.1_Frame_Shift_Ins_p.K35fs	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	95					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGAACGTCCAGAAAAAATACCA	0.287													14	196	---	---	---	---					
CDC123	8872	broad.mit.edu	37	10	12291634	12291635	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:12291634_12291635insA	ENST00000281141.4	+	12	1181_1182	c.901_902insA	c.(901-903)tttfs	p.F301fs	CDC123_ENST00000378900.2_Frame_Shift_Ins_p.F260fs|CDC123_ENST00000455773.3_3'UTR	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	301					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						GCCCAGCCCCTATTTGAGTTAC	0.436													19	109	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	17110651	17110652	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:17110651_17110652insA	ENST00000377833.4	-	20	2808_2809	c.2743_2744insT	c.(2743-2745)tacfs	p.Y915fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	915	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTTTCAGTAGAAGAACTTTTC	0.361													16	122	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21804201	21804202	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:21804201_21804202insA	ENST00000449193.2	-	4	4802_4803	c.2550_2551insT	c.(2548-2553)ttcttgfs	p.FL850fs	SKIDA1_ENST00000444772.3_Frame_Shift_Ins_p.FL771fs	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		GGTGGACAAGGAAAATTTGCCA	0.436													7	53	---	---	---	---					
CUTC	51076	broad.mit.edu	37	10	101499503	101499504	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:101499503_101499504insG	ENST00000370476.5	+	3	299_300	c.170_171insG	c.(169-171)gggfs	p.G57fs	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	57					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGTTTATCAGAGGGGGGAACTA	0.401													7	106	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129913973	129913974	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr10:129913973_129913974insT	ENST00000368654.3	-	7	1073_1074	c.698_699insA	c.(697-699)agafs	p.R233fs	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	233					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGGGAGATTCATTTTTTTTGCT	0.347													9	54	---	---	---	---					
AMPD3	272	broad.mit.edu	37	11	10506451	10506452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:10506451_10506452insG	ENST00000444303.2	+	4	669_670	c.197_198insG	c.(196-198)cggfs	p.R66fs	AMPD3_ENST00000396554.3_Frame_Shift_Ins_p.R234fs	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	225					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GTCCACATGCAGGGGGGCATCC	0.569													12	58	---	---	---	---					
PIK3C2A	5286	broad.mit.edu	37	11	17156656	17156657	+	Splice_Site	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:17156656_17156657insC	ENST00000265970.7	-	9	1897		c.e9+1		PIK3C2A_ENST00000540361.1_Splice_Site|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha						cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTAAACACATACCCCTAGTTGA	0.347													9	157	---	---	---	---					
TTC17	55761	broad.mit.edu	37	11	43419030	43419031	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:43419030_43419031insAT	ENST00000039989.4	+	7	921_922	c.907_908insAT	c.(907-909)tatfs	p.Y303fs	TTC17_ENST00000299240.6_Frame_Shift_Ins_p.Y303fs|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	303							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CACTTTGGGGAATATATATGCA	0.406													33	210	---	---	---	---					
OR4A16	81327	broad.mit.edu	37	11	55110739	55110740	+	Frame_Shift_Ins	INS	-	-	A	rs77509752		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:55110739_55110740insA	ENST00000314721.2	+	1	113_114	c.63_64insA	c.(61-66)gtaaaafs	p.VK21fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V21V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCCTGATGTGAAAAAAACATT	0.416													18	57	---	---	---	---					
TNKS1BP1	85456	broad.mit.edu	37	11	57077972	57077972	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:57077972delG	ENST00000532437.1	-	5	2524	c.2213delC	c.(2212-2214)cafs	p.P738fs	TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.P738fs|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	738	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCTGGGCTGTGGGTCTCCTGT	0.517													10	37	---	---	---	---					
MPEG1	219972	broad.mit.edu	37	11	58979595	58979599	+	Frame_Shift_Del	DEL	CACGG	CACGG	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:58979595_58979599delCACGG	ENST00000361050.3	-	1	825_829	c.740_744delCCGTG	c.(739-744)afs	p.TV247fs		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	247	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				ATTTGAAGTTCACGGTGTTTTGAAA	0.532													8	19	---	---	---	---					
C2CD3	26005	broad.mit.edu	37	11	73829363	73829364	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:73829363_73829364insT	ENST00000334126.7	-	9	1655_1656	c.1429_1430insA	c.(1429-1431)aagfs	p.K477fs	C2CD3_ENST00000313663.7_Frame_Shift_Ins_p.K477fs			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	477						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGACTGGCTTATTTTTTTAGAA	0.431													13	70	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													10	30	---	---	---	---					
CASP5	838	broad.mit.edu	37	11	104874010	104874011	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr11:104874010_104874011insT	ENST00000393141.2	-	4	603_604	c.572_573insA	c.(571-573)acafs	p.T191fs	CASP5_ENST00000393139.2_Intron|CASP5_ENST00000526056.1_Frame_Shift_Ins_p.T191fs|CASP5_ENST00000444749.2_Frame_Shift_Ins_p.T120fs|CASP5_ENST00000531367.1_Frame_Shift_Ins_p.T36fs|CASP5_ENST00000418434.1_Frame_Shift_Ins_p.T36fs|CASP5_ENST00000260315.3_Frame_Shift_Ins_p.T178fs	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	178					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CCTCATCATGATTTTTTTTACA	0.401													9	110	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46315840	46315841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:46315840_46315841insT	ENST00000465950.1	-	5	4646_4647	c.3437_3438insA	c.(3436-3438)aatfs	p.N1146fs	SCAF11_ENST00000549162.1_Frame_Shift_Ins_p.N1269fs|SCAF11_ENST00000369367.3_Frame_Shift_Ins_p.N1461fs|SCAF11_ENST00000550629.1_Intron|SCAF11_ENST00000419565.2_Frame_Shift_Ins_p.N1461fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1461					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTCAGCCTATGTTTTTTTCAGT	0.376													31	155	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57598893	57598894	+	Splice_Site	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:57598893_57598894insC	ENST00000243077.3	+	73	11662_11663	c.11194_splice	c.e73-1	p.DP3732_splice		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3732	LDL-receptor class A 30.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.P3733S(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCCTCAGAGCCCCCCACAGC	0.589													7	40	---	---	---	---					
C12orf66	144577	broad.mit.edu	37	12	64588065	64588066	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:64588065_64588066insA	ENST00000311915.8	-	3	921_922	c.894_895insT	c.(892-897)ttgaaafs	p.LK298fs	C12orf66_ENST00000544871.1_Frame_Shift_Ins_p.LK245fs|C12orf66_ENST00000398055.3_Frame_Shift_Ins_p.LK298fs			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	298										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GAAATCTTTCCAAAAAAGTCTG	0.401													14	86	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100453146	100453147	+	Frame_Shift_Ins	INS	-	-	A	rs3748287		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:100453146_100453147insA	ENST00000279907.7	-	14	2120_2121	c.1908_1909insT	c.(1906-1911)ttgtaafs	p.L*636fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.L*286fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	636										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TATGTTTTACTAAAAAAATCAC	0.351													9	56	---	---	---	---					
BRAP	8315	broad.mit.edu	37	12	112082051	112082052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:112082051_112082052insC	ENST00000419234.4	-	12	1923_1924	c.1730_1731insG	c.(1729-1731)gagfs	p.E577fs	BRAP_ENST00000327551.6_Frame_Shift_Ins_p.E547fs|BRAP_ENST00000539060.1_Frame_Shift_Ins_p.E398fs	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	577					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTTCCCACTGCCCCCCGAAGA	0.604													12	49	---	---	---	---					
KNTC1	9735	broad.mit.edu	37	12	123087619	123087620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr12:123087619_123087620insA	ENST00000333479.7	+	48	5107_5108	c.4930_4931insA	c.(4930-4932)aaafs	p.K1644fs	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Frame_Shift_Ins_p.K69fs|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1644					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACACGTTTTCGAAAAAAAACTG	0.391													9	29	---	---	---	---					
N4BP2L1	90634	broad.mit.edu	37	13	32981855	32981856	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr13:32981855_32981856insA	ENST00000380130.2	-	2	328_329	c.233_234insT	c.(232-234)tttfs	p.F78fs	N4BP2L1_ENST00000380133.2_Frame_Shift_Ins_p.F78fs|N4BP2L1_ENST00000380139.4_Frame_Shift_Ins_p.F78fs|N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000530622.2_5'UTR	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	78					cell killing		ATP binding			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CTTCCCTGAAGAAAAAATCATC	0.426													8	91	---	---	---	---					
TRIM9	114088	broad.mit.edu	37	14	51446192	51446192	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:51446192delA	ENST00000298355.3	-	9	3104	c.1983delT	c.(1981-1983)ttfs	p.F661fs	TRIM9_ENST00000338969.5_Frame_Shift_Del_p.F742fs	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	661	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CATCGTTGATAAAAAATGTCA	0.473													7	219	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93761192	93761193	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr14:93761192_93761193insT	ENST00000334746.5	-	3	480_481	c.173_174insA	c.(172-174)aagfs	p.K58fs	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	58								p.K58fs*44(2)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CAGAGGTTCTCTTTTTTTTGTC	0.441													13	108	---	---	---	---					
SPRED1	161742	broad.mit.edu	37	15	38614463	38614463	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr15:38614463delA	ENST00000299084.4	+	3	1089	c.229delA	c.(229-231)aafs	p.K78fs	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	78	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATGTATGCTTAAAAAAGACCT	0.343									Legius syndrome				7	49	---	---	---	---					
CDH1	999	broad.mit.edu	37	16	68846036	68846037	+	Splice_Site	DEL	AG	AG	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr16:68846036_68846037delAG	ENST00000261769.5	+	8	1199		c.e8-1		CDH1_ENST00000422392.2_Splice_Site|CDH1_ENST00000562836.1_Splice_Site	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)						adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(9)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ATCTCTCTGCAGAGTTTCCCTA	0.510			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				15	57	---	---	---	---					
C17orf59	54785	broad.mit.edu	37	17	8092693	8092694	+	Frame_Shift_Ins	INS	-	-	G	rs8531	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:8092693_8092694insG	ENST00000389017.4	-	1	870_871	c.765_766insC	c.(763-768)cctcgafs	p.R256fs		NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	256	Pro-rich.									large_intestine(2)|lung(3)|urinary_tract(1)	6						TCGGGGTCGATTGGGGGAATGG	0.713													2	4	---	---	---	---					
ERBB2	2064	broad.mit.edu	37	17	37884217	37884218	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:37884217_37884218insG	ENST00000406381.2	+	29	4108_4109	c.3598_3599insG	c.(3598-3600)gggfs	p.G1200fs	ERBB2_ENST00000269571.5_Frame_Shift_Ins_p.G1230fs|ERBB2_ENST00000540147.1_Frame_Shift_Ins_p.G1200fs|ERBB2_ENST00000584601.1_Frame_Shift_Ins_p.G1200fs|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000541774.1_Frame_Shift_Ins_p.G1215fs|ERBB2_ENST00000445658.2_Frame_Shift_Ins_p.G954fs	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1230					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CCCACCAGAGCGGGGGGCTCCA	0.634		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			7	57	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056586	56056587	+	In_Frame_Ins	INS	-	-	TGT			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:56056586_56056587insTGT	ENST00000584396.1	-	5	1125_1126	c.1037_1038insACA	c.(1036-1038)cgt>cACAgt	p.346_346R>HS	VEZF1_ENST00000581208.1_In_Frame_Ins_p.355_355R>HS			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	355	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGCTTGTCACAtgttgttgttg	0.475													18	208	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													2	4	---	---	---	---					
BPTF	2186	broad.mit.edu	37	17	65871138	65871139	+	Splice_Site	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:65871138_65871139insA	ENST00000321892.4	+	4	1925		c.e4+2		BPTF_ENST00000306378.6_Splice_Site|BPTF_ENST00000335221.5_Splice_Site|BPTF_ENST00000424123.3_Splice_Site			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor						brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATCTGAGGGTAAAAAAATTAC	0.337													7	45	---	---	---	---					
SRP68	6730	broad.mit.edu	37	17	74068450	74068451	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:74068450_74068451insT	ENST00000307877.2	-	1	283_284	c.122_123insA	c.(121-123)agafs	p.R41fs	SRP68_ENST00000539137.1_Frame_Shift_Ins_p.R41fs|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	41					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						AAGGGCGTTCGTTTTCTTTATT	0.619													50	208	---	---	---	---					
RPTOR	57521	broad.mit.edu	37	17	78923270	78923271	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr17:78923270_78923271insT	ENST00000306801.3	+	28	3655_3656	c.3293_3294insT	c.(3292-3294)attfs	p.I1098fs	RPTOR_ENST00000544334.2_Frame_Shift_Ins_p.I940fs|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1098					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GTCTGGAAGAATTTTGCTGATT	0.614													27	168	---	---	---	---					
SMCHD1	23347	broad.mit.edu	37	18	2718223	2718224	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr18:2718223_2718224insA	ENST00000320876.6	+	18	2666_2667	c.2328_2329insA	c.(2326-2331)ttaaaafs	p.LK776fs	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Frame_Shift_Ins_p.LK776fs	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	776					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTTACTGGTTTAAAAAAATGGG	0.272													7	25	---	---	---	---					
ZNF93	81931	broad.mit.edu	37	19	20044269	20044270	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr19:20044269_20044270insA	ENST00000343769.5	+	4	533_534	c.505_506insA	c.(505-507)aaafs	p.K169fs	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	169						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AAGACATACTGAAAAAAAACCT	0.307													7	37	---	---	---	---					
PPP1R16B	26051	broad.mit.edu	37	20	37534665	37534665	+	Frame_Shift_Del	DEL	C	C	-	rs4812332	byFrequency	TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:37534665delC	ENST00000299824.1	+	7	939	c.750delC	c.(748-750)gafs	p.D250fs	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	250					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TCCTCCTGGACCATGGAGTGC	0.612													14	63	---	---	---	---					
HNF4A	3172	broad.mit.edu	37	20	43058204	43058204	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr20:43058204delG	ENST00000316099.3	+	10	1413	c.1324delG	c.(1324-1326)ggfs	p.G442fs	HNF4A_ENST00000415691.1_Frame_Shift_Del_p.G432fs|HNF4A_ENST00000457232.1_Frame_Shift_Del_p.G410fs	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	442					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGGTGGCTCAGGGTCTGAGCC	0.592													33	138	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20940865	20940866	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chr22:20940865_20940866insT	ENST00000263205.7	+	18	2310_2311	c.2241_2242insT	c.(2239-2244)cctcctfs	p.P748fs	MED15_ENST00000292733.7_Frame_Shift_Ins_p.P708fs|MED15_ENST00000425759.2_Frame_Shift_Ins_p.P597fs|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000406969.1_Frame_Shift_Ins_p.P682fs|MED15_ENST00000382974.2_Frame_Shift_Ins_p.P637fs|MED15_ENST00000541476.1_Frame_Shift_Ins_p.P682fs	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	748					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ACGCCAACCCCTTCCTCCAGTC	0.678													13	79	---	---	---	---					
CCNB3	85417	broad.mit.edu	37	X	50051702	50051703	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7567-01A-11D-2063-08	TCGA-95-7567-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	118e528b-c07f-4c32-a2dd-3f098916f81d	97f1e89e-69ae-476b-9dba-d46e08f126d1	g.chrX:50051702_50051703insA	ENST00000376042.1	+	6	831_832	c.533_534insA	c.(532-534)taafs	p.*178fs	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Frame_Shift_Ins_p.*178fs			Q8WWL7	CCNB3_HUMAN	cyclin B3	178					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCATTATCTTTAAAAAAGTGCT	0.426													22	30	---	---	---	---					
