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
ZNF804A	91752	broad.mit.edu	37	2	185803037	185803037	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:185803037C>A	ENST00000302277.6	+	4	3508	c.2914C>A	c.(2914-2916)Cat>Aat	p.H972N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	972						intracellular	zinc ion binding	p.H972N(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTATCTTTGCCATTATGAACT	0.388000													42	83					2.215e-12	2.92147e-12	0.002852	1	0
OR4D2	124538	broad.mit.edu	37	17	56247798	56247798	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:56247798C>A	ENST00000545221.1	+	1	782	c.782C>A	c.(781-783)cCc>cAc	p.P261H		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P261H(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TATGCCCGGCCCTTCACTCCA	0.542000													47	93					2.27781e-18	3.49161e-18	0.003610	1	0
C10orf12	26148	broad.mit.edu	37	10	98743249	98743249	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:98743249G>A	ENST00000286067.2	+	1	2209	c.2102G>A	c.(2101-2103)aGc>aAc	p.S701N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	701								p.S701N(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GCCCCATGCAGCTCTCTTGGG	0.507000													20	43					0	0	0.008871	0	0
NFS1	9054	broad.mit.edu	37	20	34278354	34278354	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:34278354C>A	ENST00000374092.4	-	5	612	c.542G>T	c.(541-543)aGt>aTt	p.S181I	NFS1_ENST00000374085.1_Missense_Mutation_p.S121I|NFS1_ENST00000540053.1_5'UTR|NFS1_ENST00000541387.1_Intron|NFS1_ENST00000397425.1_Missense_Mutation_p.S121I	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	181					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	p.S181I(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AATGATCCCACTCTTCTGCAC	0.517000													147	231					2.03784e-77	4.07568e-77	0.003610	1	0
MSGN1	343930	broad.mit.edu	37	2	17998189	17998189	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:17998189T>G	ENST00000281047.3	+	1	427	c.404T>G	c.(403-405)cTc>cGc	p.L135R		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	135					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L135R(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGGGAGAAGCTCAGGATGAGG	0.622000													17	29					0	0	0.004990	0	0
CPNE4	131034	broad.mit.edu	37	3	131283074	131283074	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:131283074G>T	ENST00000512055.1	-	15	3173	c.1047C>A	c.(1045-1047)tgC>tgA	p.C349*	CPNE4_ENST00000511604.1_Nonsense_Mutation_p.C349*|CPNE4_ENST00000429747.1_Nonsense_Mutation_p.C349*|CPNE4_ENST00000512332.1_Nonsense_Mutation_p.C367*|CPNE4_ENST00000502818.1_Nonsense_Mutation_p.C367*			Q96A23	CPNE4_HUMAN	copine IV	349	VWFA.							p.C349*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CATAGTCTTGGCAAATCTCCC	0.502000													29	58					2.65835e-16	3.94954e-16	0.007291	1	0
KRT33A	3883	broad.mit.edu	37	17	39506923	39506923	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:39506923C>A	ENST00000007735.3	-	1	141	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	33	Head.					intermediate filament	protein binding|structural molecule activity	p.G33L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TTGCAGGCCCCGGGCAGGGTG	0.637000													40	35					4.44401e-20	7.03549e-20	0.002522	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762639	130762639	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:130762639C>A	ENST00000392429.1	+	2	3450	c.1072C>A	c.(1072-1074)Cag>Aag	p.Q358K	TMEM200A_ENST00000296978.3_Missense_Mutation_p.Q358K|TMEM200A_ENST00000545622.1_Missense_Mutation_p.Q358K	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	358						integral to membrane		p.Q358K(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTTGTCGAGTCAGTACAAGTC	0.527000													9	26					2.17888e-05	2.38723e-05	0.006214	1	0
LPP	4026	broad.mit.edu	37	3	188590546	188590546	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:188590546T>A	ENST00000312675.4	+	10	1951	c.1705T>A	c.(1705-1707)Tgc>Agc	p.C569S	LPP_ENST00000543006.1_Missense_Mutation_p.C569S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	569	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.C569S(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTGCTACCGATGCGAGGTCTG	0.522000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								9	27					0	0	0.004482	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698205	111698205	+	Silent	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:111698205A>T	ENST00000340433.2	+	1	479	c.249A>T	c.(247-249)acA>acT	p.T83T		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	83							nucleic acid binding|zinc ion binding	p.T83T(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTACTTGACAGCTCTCCAAA	0.458000													40	77					0	0	0.007835	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967583	142967583	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:142967583G>T	ENST00000370494.1	+	1	411	c.381G>T	c.(379-381)gtG>gtT	p.V127V		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	127							acid-amino acid ligase activity	p.V127V(3)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATGATGTAGTGGAGCAGTGGA	0.448000													61	122					3.30712e-30	5.89871e-30	0.003610	1	0
ADRA2A	150	broad.mit.edu	37	10	112838132	112838132	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:112838132G>T	ENST00000280155.2	+	1	1343	c.378G>T	c.(376-378)gcG>gcT	p.A126A		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	111					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	p.A111A(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	TCTACCTGGCGCTCGACGTGC	0.607000													6	13					8.12818e-05	8.70785e-05	0.001984	1	0
OAS2	4939	broad.mit.edu	37	12	113445542	113445542	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:113445542G>T	ENST00000392583.2	+	9	1896	c.1689G>T	c.(1687-1689)ttG>ttT	p.L563F	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.L563F	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	563	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.L563F(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGGGGTCTTTGCCCCCAAAGT	0.552000													44	86					1.06522e-23	1.77362e-23	0.003214	1	0
MED12	9968	broad.mit.edu	37	X	70341002	70341002	+	Splice_Site	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:70341002G>A	ENST00000333646.6	+	5	934	c.735_splice	c.e5+1	p.Q245_splice	MED12_ENST00000374080.3_Splice_Site_p.Q245_splice|MED12_ENST00000374102.1_Splice_Site_p.Q245_splice	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	245					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.Q245Q(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCATGTTTCAGGTAGAGAGTA	0.557000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						21	68					0	0	0.002299	0	0
MASP1	5648	broad.mit.edu	37	3	186953834	186953834	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:186953834C>A	ENST00000296280.6	-	11	2050	c.1825G>T	c.(1825-1827)Ggc>Tgc	p.G609C	MASP1_ENST00000392472.2_Missense_Mutation_p.G496C|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	593	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.G609C(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTCCGTGTGCCACTGCTGATG	0.582000													39	58					1.38162e-09	1.69506e-09	0.008740	1	0
ZP1	22917	broad.mit.edu	37	11	60640699	60640699	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:60640699C>A	ENST00000278853.5	+	7	1177	c.1177C>A	c.(1177-1179)Ccc>Acc	p.P393T		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	393	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.P393T(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CATTTTCCCACCCCCATCGCC	0.597000													62	58					1.08241e-25	1.85242e-25	0.003610	1	0
ARID3B	10620	broad.mit.edu	37	15	74836611	74836611	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr15:74836611G>A	ENST00000346246.5	+	2	565	c.334G>A	c.(334-336)Gag>Aag	p.E112K		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E112K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						AGAGGTGGCTGAGAAAGAAAC	0.512000													8	37					0	0	0.003080	0	0
STXBP2	6813	broad.mit.edu	37	19	7712288	7712288	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:7712288G>T	ENST00000441779.2	+	18	1657	c.1620G>T	c.(1618-1620)cgG>cgT	p.R540R	STXBP2_ENST00000414284.2_Silent_p.R526R|STXBP2_ENST00000221283.5_Silent_p.R529R|STXBP2_ENST00000602355.1_Silent_p.R64R	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	529					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	p.R529R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TAGAAGCCCGGGCGGGCCCCC	0.672000													16	14					4.7546e-09	5.71906e-09	0.004007	1	0
NGFR	4804	broad.mit.edu	37	17	47583905	47583905	+	Silent	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:47583905C>T	ENST00000172229.3	+	3	578	c.453C>T	c.(451-453)gaC>gaT	p.D151D	NGFR_ENST00000504201.1_Silent_p.D57D|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	151					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		p.D151D(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					AGTGCCCCGACGGCACGTATT	0.711000													8	28					0	0	0.004482	0	0
SLC25A14	9016	broad.mit.edu	37	X	129499532	129499532	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:129499532G>T	ENST00000218197.5	+	8	964	c.737G>T	c.(736-738)gGt>gTt	p.G246V	SLC25A14_ENST00000361980.5_Missense_Mutation_p.G243V|SLC25A14_ENST00000339231.3_Missense_Mutation_p.G274V|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000543953.1_3'UTR	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	246					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	p.G246V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TTTACATGTGGTTTGGCTGGG	0.488000													57	76					3.28156e-27	5.70265e-27	0.003610	1	0
HRH2	3274	broad.mit.edu	37	5	175110971	175110971	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:175110971C>G	ENST00000231683.2	+	1	2508	c.735C>G	c.(733-735)atC>atG	p.I245M	HRH2_ENST00000377291.2_Missense_Mutation_p.I245M	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	245					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	p.I245M(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	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)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCTTCATCATCTGCTGGTTTC	0.557000													47	97					0	0	0.003610	0	0
PRUNE2	158471	broad.mit.edu	37	9	79259674	79259674	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr9:79259674C>A	ENST00000428286.1	-	12	8835	c.7635G>T	c.(7633-7635)agG>agT	p.R2545S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.R2903S|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Missense_Mutation_p.R152S|PRUNE2_ENST00000223609.6_Missense_Mutation_p.R168S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2903					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.R2903S(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAATGACTCTCCTGTAGGGCT	0.498000													22	16					1.96895e-08	2.31078e-08	0.002780	1	0
GABRG1	2565	broad.mit.edu	37	4	46060349	46060349	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:46060349G>A	ENST00000295452.4	-	7	968	c.801C>T	c.(799-801)agC>agT	p.S267S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	267					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.S267S(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCATTCTTCTGCTCAGGTCAA	0.313000													23	64					0	0	0.003954	0	0
MOG	4340	broad.mit.edu	37	6	29627268	29627268	+	Silent	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:29627268T>C	ENST00000376894.4	+	2	379	c.261T>C	c.(259-261)gaT>gaC	p.D87D	MOG_ENST00000376898.3_Silent_p.D87D|MOG_ENST00000376917.3_Silent_p.D87D|MOG_ENST00000494692.1_Silent_p.D87D|MOG_ENST00000376902.3_Silent_p.D87D|MOG_ENST00000396704.3_Silent_p.D87D|MOG_ENST00000376888.2_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000533330.2_Silent_p.D87D|MOG_ENST00000431798.2_Silent_p.D87D|MOG_ENST00000396701.2_Silent_p.D87D|MOG_ENST00000376891.4_Silent_p.D87D|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000416766.2_Silent_p.D87D|MOG_ENST00000483013.1_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	87	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.D87D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGGACCAAGATGGAGACCAGG	0.547000													28	17					0	0	0.005443	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38667062	38667062	+	RNA	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:38667062G>A	ENST00000494540.1	+	0	1030					NR_003086.1																						ggccaaggcagaaggatcact	0.453000													4	9					0	0	0.001168	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984938	41984938	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:41984938G>T	ENST00000333141.5	+	1	1226	c.1129G>T	c.(1129-1131)Gga>Tga	p.G377*		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	377								p.G377*(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GGGCATCCGGGGAGCAGCACC	0.612000													31	35					8.88839e-20	1.3941e-19	0.002096	1	0
SSPO	23145	broad.mit.edu	37	7	149479975	149479975	+	RNA	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:149479975G>T	ENST00000378016.2	+	0	1941							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)			GCTTGCCCTGGATTGGCGCTG	0.647000													7	26					5.18039e-06	5.81718e-06	0.003080	1	0
GZMA	3001	broad.mit.edu	37	5	54405931	54405931	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:54405931C>A	ENST00000274306.6	+	5	745	c.710C>A	c.(709-711)cCt>cAt	p.P237H		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	237	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	p.P237H(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGCGGAGACCCTCGTGGGCCT	0.448000													21	66					2.4624e-09	2.97778e-09	0.008871	1	0
ABI3	51225	broad.mit.edu	37	17	47299525	47299525	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:47299525C>T	ENST00000225941.1	+	7	1373	c.875C>T	c.(874-876)cCa>cTa	p.P292L	ABI3_ENST00000419580.2_Missense_Mutation_p.P286L	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	292	Pro-rich.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding	p.P292L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GGGCTGCCTCCACCCCCACCA	0.607000										HNSCC(55;0.14)			67	73					0	0	0.003610	0	0
GDF2	2658	broad.mit.edu	37	10	48413982	48413982	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:48413982C>A	ENST00000249598.1	-	2	1045	c.886G>T	c.(886-888)Ggt>Tgt	p.G296C		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	296					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.G296C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CTGCTCTCACCTGCCTCTGTG	0.612000													17	24					5.01169e-05	5.40336e-05	0.004990	1	0
SI	6476	broad.mit.edu	37	3	164776800	164776800	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:164776800T>A	ENST00000264382.3	-	12	1411	c.1349A>T	c.(1348-1350)cAa>cTa	p.Q450L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	450	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.Q450L(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCACACATGTTGTGTGTTTCC	0.363000										HNSCC(35;0.089)			19	41					0	0	0.006122	0	0
PCDH15	65217	broad.mit.edu	37	10	55626444	55626444	+	Silent	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:55626444A>T	ENST00000373965.2	-	28	4090	c.3696T>A	c.(3694-3696)acT>acA	p.T1232T	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Silent_p.T1225T|PCDH15_ENST00000414778.1_Silent_p.T1230T|PCDH15_ENST00000395445.1_Silent_p.T1232T|PCDH15_ENST00000395433.1_Silent_p.T1203T|PCDH15_ENST00000395438.1_Silent_p.T1225T|PCDH15_ENST00000395430.1_Silent_p.T1225T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Silent_p.T1188T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Silent_p.T836T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Silent_p.T1154T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Silent_p.T1225T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1225	Cadherin 11.				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	p.T1225T(2)|p.T1230T(2)		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)				CATAGTCGTCAGTTGCAATAA	0.418000										HNSCC(58;0.16)			37	59					0	0	0.008740	0	0
OR6N2	81442	broad.mit.edu	37	1	158747401	158747401	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:158747401G>T	ENST00000339258.1	-	1	24	c.25C>A	c.(25-27)Ctg>Atg	p.L9M		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L9M(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AATTCAGCCAGGCTTGAATGG	0.453000													16	21					2.31682e-05	2.53426e-05	0.003163	1	0
C9orf3	84909	broad.mit.edu	37	9	97522631	97522631	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr9:97522631G>T	ENST00000375315.2	+	1	566	c.566G>T	c.(565-567)cGt>cTt	p.R189L	C9orf3_ENST00000277198.2_Missense_Mutation_p.R189L|C9orf3_ENST00000297979.5_Missense_Mutation_p.R189L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	189					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R189L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CAGATTGTACGTGAACTTGTG	0.512000													26	24					6.32553e-13	8.55212e-13	0.004656	1	0
TTC40	54777	broad.mit.edu	37	10	134626371	134626371	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:134626371G>T	ENST00000368586.5	-	55	7519	c.7419C>A	c.(7417-7419)agC>agA	p.S2473R	TTC40_ENST00000263170.5_Missense_Mutation_p.S634R	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	634								p.S56R(1)|p.S634R(1)|p.S2473R(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AACCGCTGCAGCTGCCCAGGG	0.562000													14	30					4.3838e-07	5.0228e-07	0.001855	1	0
DCAF17	80067	broad.mit.edu	37	2	172337513	172337513	+	Silent	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:172337513A>G	ENST00000375255.3	+	14	1779	c.1452A>G	c.(1450-1452)agA>agG	p.R484R	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Silent_p.R417R	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	484						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		p.R484R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						ACTTTGACAGAGACTTGGTGC	0.393000													55	77					0	0	0.003610	0	0
IGFN1	91156	broad.mit.edu	37	1	201196209	201196209	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:201196209C>G	ENST00000335211.4	+	23	11116	c.10986C>G	c.(10984-10986)agC>agG	p.S3662R	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.S3662R(1)|p.S822R(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGGTGTACAGCACTGACCTGC	0.657000													9	35					0	0	0.006214	0	0
DMP1	1758	broad.mit.edu	37	4	88584032	88584032	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:88584032C>A	ENST00000339673.6	+	6	1201	c.1102C>A	c.(1102-1104)Ccc>Acc	p.P368T	DMP1_ENST00000282479.7_Missense_Mutation_p.P352T|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	368					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.P368T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGGAGATAACCCCGACCCCAC	0.537000													63	60					7.05995e-25	1.19313e-24	0.003610	1	0
STARD8	9754	broad.mit.edu	37	X	67938333	67938333	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:67938333C>A	ENST00000252336.6	+	5	1709	c.1337C>A	c.(1336-1338)gCc>gAc	p.A446D	STARD8_ENST00000374597.3_Missense_Mutation_p.A446D|STARD8_ENST00000374599.3_Missense_Mutation_p.A526D	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	446					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.A446D(2)|p.A526D(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GACACTGTGGCCTCCTCCAGC	0.607000													14	22					1.5842e-08	1.87552e-08	0.001855	1	0
FCER1G	2207	broad.mit.edu	37	1	161188514	161188514	+	Splice_Site	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:161188514G>A	ENST00000289902.1	+	4	223		c.e4+1		FCER1G_ENST00000367992.3_Splice_Site|FCER1G_ENST00000490414.1_Splice_Site	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide						platelet activation	integral to plasma membrane		p.?(1)		endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	TGTTTACACGGTAAGTGTGCC	0.562000													21	42					0	0	0.002299	0	0
PTCRA	171558	broad.mit.edu	37	6	42890818	42890818	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:42890818G>C	ENST00000304672.1	+	2	193	c.112G>C	c.(112-114)Gat>Cat	p.D38H	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	38						integral to membrane	receptor activity	p.D38H(1)		large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GCTGCTGGTGGATGGAAAGCA	0.592000													25	45					0	0	0.005443	0	0
SGK223	157285	broad.mit.edu	37	8	8234236	8234236	+	Silent	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:8234236T>A	ENST00000520004.1	-	3	1947	c.1683A>T	c.(1681-1683)ggA>ggT	p.G561G	SGK223_ENST00000330777.4_Silent_p.G561G			Q86YV5	SG223_HUMAN		561							ATP binding|non-membrane spanning protein tyrosine kinase activity	p.G561G(1)									CTGGGGGCCCTCCAGCAGACG	0.657000													26	15					0	0	0.002445	0	0
KRT33A	3883	broad.mit.edu	37	17	39506922	39506922	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:39506922C>A	ENST00000007735.3	-	1	142	c.98G>T	c.(97-99)gGg>gTg	p.G33V		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	33	Head.					intermediate filament	protein binding|structural molecule activity	p.G33L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GTTGCAGGCCCCGGGCAGGGT	0.637000													42	39					1.48734e-19	2.32203e-19	0.003214	1	0
ANP32D	23519	broad.mit.edu	37	12	48866732	48866732	+	Silent	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:48866732A>G	ENST00000266594.1	+	1	285	c.285A>G	c.(283-285)ttA>ttG	p.L95L		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	95								p.L95L(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						ATCTAAATTTAAGTGGCAACA	0.403000													26	48					0	0	0.006320	0	0
GALNT5	11227	broad.mit.edu	37	2	158114923	158114923	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:158114923G>A	ENST00000259056.4	+	1	814	c.329G>A	c.(328-330)aGg>aAg	p.R110K		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	110					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R110K(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CAAACCCAGAGGGAAAGAAAA	0.532000													24	57					0	0	0.005443	0	0
ANKRD18A	253650	broad.mit.edu	37	9	38577895	38577895	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr9:38577895T>G	ENST00000399703.5	-	13	2872	c.2498A>C	c.(2497-2499)gAa>gCa	p.E833A		NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	833								p.E833A(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						TTTTTCTATTTCCTGCACTGC	0.303000													5	13					0	0	0.004482	0	0
DRP2	1821	broad.mit.edu	37	X	100505910	100505910	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:100505910C>T	ENST00000395209.3	+	16	2230	c.1703C>T	c.(1702-1704)aCc>aTc	p.T568I	DRP2_ENST00000402866.1_Missense_Mutation_p.T568I|DRP2_ENST00000538510.1_Missense_Mutation_p.T568I|DRP2_ENST00000541709.1_Missense_Mutation_p.T490I	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	568					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	p.T565I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCGTAGAGCACCGGGAAGCCA	0.572000													51	100					0	0	0.003610	0	0
PLXNA1	5361	broad.mit.edu	37	3	126730864	126730864	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:126730864A>C	ENST00000251772.4	+	9	2176	c.2107A>C	c.(2107-2109)Acc>Ccc	p.T703P	PLXNA1_ENST00000393409.2_Missense_Mutation_p.T726P			Q9UIW2	PLXA1_HUMAN	plexin A1	726					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.T703P(2)		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)		AAAACCCATCACCCTGGCCGC	0.652000													7	51					0	0	0.004990	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945409	16945409	+	RNA	SNP	T	T	A	rs13566		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:16945409T>A	ENST00000412962.1	-	0	2110																											GCGGGATAGCTCGGTGGAGAG	0.612000													5	25					0	0	0.000602	0	0
LCT	3938	broad.mit.edu	37	2	136566900	136566900	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:136566900C>T	ENST00000264162.2	-	8	3027	c.3017G>A	c.(3016-3018)gGc>gAc	p.G1006D		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1006	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G1006D(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGCCACCAAGCCATTGATCAG	0.512000													14	30					0	0	0.002450	0	0
SLC2A10	81031	broad.mit.edu	37	20	45362393	45362393	+	Splice_Site	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:45362393A>G	ENST00000359271.2	+	5	1797		c.e5-1			NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10							endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	p.?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TTTGTCTGACAGGTTCACCCT	0.622000													12	59					0	0	0.004007	0	0
OR2G6	391211	broad.mit.edu	37	1	248684970	248684970	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:248684970C>A	ENST00000343414.4	+	1	55	c.23C>A	c.(22-24)tCt>tAt	p.S8Y		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8Y(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACAACAGCTCTGAAAAGGGA	0.418000													51	110					1.78197e-24	2.99654e-24	0.003610	1	0
HK2	3099	broad.mit.edu	37	2	75061718	75061718	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:75061718C>T	ENST00000290573.2	+	1	611	c.11C>T	c.(10-12)tCg>tTg	p.S4L		NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	4	Hydrophobic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.S4L(1)|p.S4W(1)		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						ATGATTGCCTCGCATCTGCTT	0.662000													8	42					0	0	0.008291	0	0
OR2L13	284521	broad.mit.edu	37	1	248262995	248262995	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:248262995G>T	ENST00000366478.2	+	3	655	c.318G>T	c.(316-318)atG>atT	p.M106I	OR2L13_ENST00000358120.2_Missense_Mutation_p.M106I	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.M106I(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TCCTGACCATGGCGTGTTCTG	0.517000													77	143					5.21738e-30	9.28145e-30	0.003610	1	0
TOPBP1	11073	broad.mit.edu	37	3	133371470	133371470	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:133371470C>G	ENST00000260810.5	-	8	1057	c.926G>C	c.(925-927)cGt>cCt	p.R309P	TOPBP1_ENST00000511439.1_Intron	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	309					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	p.R309P(1)|p.R222P(1)		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						TGAAAGAGTACGACCTACATA	0.303000								Other conserved DNA damage response genes					20	70					0	0	0.010504	0	0
KIF2C	11004	broad.mit.edu	37	1	45227636	45227636	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:45227636A>T	ENST00000372217.1	+	16	1921	c.1570A>T	c.(1570-1572)Acc>Tcc	p.T524S	RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.T537S|KIF2C_ENST00000372222.3_Missense_Mutation_p.T465S|KIF2C_ENST00000372224.4_Missense_Mutation_p.T578S			Q99661	KIF2C_HUMAN	kinesin family member 2C	578					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	p.T578S(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TACTTTAAACACCCTGAGATA	0.527000													31	40					0	0	0.002445	0	0
WDR3	10885	broad.mit.edu	37	1	118484427	118484427	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:118484427A>G	ENST00000349139.4	+	9	993	c.946A>G	c.(946-948)Aag>Gag	p.K316E		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	316						nuclear membrane|nucleolus		p.K316E(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GGAAATTCAGAAGAAAATGGA	0.343000													27	32					0	0	0.007291	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5306772	5306772	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:5306772C>A	ENST00000274181.7	+	21	3480	c.3342C>A	c.(3340-3342)tgC>tgA	p.C1114*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1114	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1114*(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGCTTCCATGCCCCAGGCACC	0.622000													14	72					2.61681e-11	3.34398e-11	0.002450	1	0
RNF128	79589	broad.mit.edu	37	X	106034405	106034405	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:106034405G>T	ENST00000255499.2	+	6	1344	c.1094G>T	c.(1093-1095)gGa>gTa	p.G365V	RNF128_ENST00000324342.3_Missense_Mutation_p.G339V	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	365						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	p.G365V(1)|p.G339V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GCATCATCTGGATATGCTTCA	0.463000													106	167					1.54984e-59	3.0545e-59	0.003610	1	0
USP11	8237	broad.mit.edu	37	X	47092493	47092493	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:47092493G>T	ENST00000377107.2	+	1	405	c.51G>T	c.(49-51)gcG>gcT	p.A17A	USP11_ENST00000218348.3_Silent_p.A60A			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	60					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.A61S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ctgtggcggcggcagcggcgg	0.642000													6	6					0.00198382	0.00206954	0.001984	1	0
SOGA1	140710	broad.mit.edu	37	20	35467808	35467808	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:35467808T>A	ENST00000237536.4	-	2	1065	c.724A>T	c.(724-726)Atg>Ttg	p.M242L	SOGA1_ENST00000357779.3_Missense_Mutation_p.M4L|SOGA1_ENST00000279034.5_Missense_Mutation_p.M4L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	4								p.M242L(3)|p.M4L(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						ACGTCCCGCATCTCCAGCATC	0.622000													12	36					0	0	0.002450	0	0
FAM175A	84142	broad.mit.edu	37	4	84383867	84383867	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:84383867G>T	ENST00000321945.7	-	9	1093	c.985C>A	c.(985-987)Cac>Aac	p.H329N	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Missense_Mutation_p.H280N	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	329					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	p.H329N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						ATGTCAGTGTGTTCTACCATT	0.373000													74	72					9.07738e-34	1.6858e-33	0.003610	1	0
ABCB5	340273	broad.mit.edu	37	7	20687598	20687598	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:20687598G>T	ENST00000404938.2	+	11	1755	c.1103G>T	c.(1102-1104)aGt>aTt	p.S368I	ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000258738.6_5'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	552	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.S368I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAGAAACCCAGTATAGATAAC	0.313000													13	25					9.31168e-06	1.03361e-05	0.001855	1	0
ASTN1	460	broad.mit.edu	37	1	176934374	176934374	+	Splice_Site	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:176934374C>A	ENST00000367654.2	-	9	1561		c.e9-1		ASTN1_ENST00000281881.3_Splice_Site|ASTN1_ENST00000424564.2_Splice_Site|ASTN1_ENST00000361833.2_Splice_Site|ASTN1_ENST00000367657.3_Splice_Site			O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane		p.?(1)		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						AGGCCATGGCCTAAAAGAAGA	0.428000													36	34					6.70999e-13	9.01779e-13	0.004289	1	0
SEMA3A	10371	broad.mit.edu	37	7	83634655	83634655	+	Splice_Site	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:83634655C>T	ENST00000265362.3	-	11	1674	c.1360_splice	c.e11+1	p.D454_splice	SEMA3A_ENST00000436949.1_Splice_Site_p.D454_splice	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	454	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.D454N(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AAAAATTTACCTGTTCCGATA	0.353000													48	81					0	0	0.003610	0	0
CUL7	9820	broad.mit.edu	37	6	43019062	43019062	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:43019062C>G	ENST00000535468.1	-	4	1215	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q	CUL7_ENST00000265348.3_Missense_Mutation_p.E293Q	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	293	Interaction with TP53.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.E293Q(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AACTCCAGCTCCAGTTGACCC	0.617000													7	40					0	0	0.001984	0	0
KCTD16	57528	broad.mit.edu	37	5	143586840	143586840	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:143586840G>T	ENST00000507359.2	+	2	1654	c.563G>T	c.(562-564)aGa>aTa	p.R188I	KCTD16_ENST00000512467.1_Missense_Mutation_p.R188I	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	188						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R188I(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AAGTTTCGGAGAGTTCCCCGG	0.517000													33	14					7.11191e-15	1.01857e-14	0.002836	1	0
PLTP	5360	broad.mit.edu	37	20	44540080	44540080	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:44540080G>A	ENST00000477313.1	-	1	606	c.12C>T	c.(10-12)ttC>ttT	p.F4F	PLTP_ENST00000542937.1_Silent_p.F24F|PLTP_ENST00000372431.3_Silent_p.F4F|PLTP_ENST00000354050.4_Silent_p.F4F|PLTP_ENST00000420868.2_Silent_p.F4F			P55058	PLTP_HUMAN	phospholipid transfer protein	4					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	p.F4F(2)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGAGGGCCCCGAAGAGGGCCA	0.642000													17	39					0	0	0.007413	0	0
CIITA	4261	broad.mit.edu	37	16	11000948	11000948	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr16:11000948C>G	ENST00000324288.8	+	11	1732	c.1599C>G	c.(1597-1599)ttC>ttG	p.F533L	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	533	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	p.F533L(2)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCGGCCTTTTCCAGAAGAAGC	0.687000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								10	30					0	0	0.008291	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303053	151303053	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:151303053G>T	ENST00000370323.4	-	4	1356	c.1040C>A	c.(1039-1041)aCc>aAc	p.T347N	MAGEA10_ENST00000244096.3_Missense_Mutation_p.T347N|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	347								p.T347N(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATCATCTGTGGTGGCAATTCT	0.458000													72	255					2.08929e-35	3.91235e-35	0.003610	1	0
ADCYAP1	116	broad.mit.edu	37	18	905426	905426	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr18:905426C>A	ENST00000579794.1	+	1	317	c.39C>A	c.(37-39)gtC>gtA	p.V13V	RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|ADCYAP1_ENST00000450565.3_Silent_p.V13V|RP11-672L10.2_ENST00000581719.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	13					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	p.V13V(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CCCTGCTGGTCTATGGGATAA	0.637000													41	56					5.34276e-22	8.7029e-22	0.003610	1	0
F5	2153	broad.mit.edu	37	1	169525912	169525912	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:169525912T>C	ENST00000367796.3	-	6	1125	c.924A>G	c.(922-924)atA>atG	p.I308M	F5_ENST00000546081.1_Missense_Mutation_p.I171M|F5_ENST00000367797.3_Missense_Mutation_p.I308M			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	308	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.I308M(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGAGAGAAGATATGATCCACT	0.478000													22	28					0	0	0.002299	0	0
C2	717	broad.mit.edu	37	6	31913078	31913078	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:31913078A>G	ENST00000299367.5	+	18	2479	c.2203A>G	c.(2203-2205)Atg>Gtg	p.M735V	C2_ENST00000452323.2_Missense_Mutation_p.M521V|CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.M603V|C2_ENST00000469372.1_Missense_Mutation_p.M489V|C2_ENST00000468407.1_Intron	NM_000063.4	NP_000054.2			complement component 2									p.M735V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TCTCTTCCGCATGCAGCCCTG	0.592000													25	21					0	0	0.003954	0	0
TIE1	7075	broad.mit.edu	37	1	43772926	43772926	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:43772926G>A	ENST00000372476.3	+	5	833	c.754G>A	c.(754-756)Ggc>Agc	p.G252S	TIE1_ENST00000538015.1_Missense_Mutation_p.G252S|TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Missense_Mutation_p.G252S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	252	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.G252S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGCTTCACTGGCACCCGCTG	0.622000													29	30					0	0	0.002096	0	0
MYOM3	127294	broad.mit.edu	37	1	24383961	24383961	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:24383961C>A	ENST00000330966.7	-	37	4378	c.4216G>T	c.(4216-4218)Ggc>Tgc	p.G1406C	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.G1403C|MYOM3_ENST00000338909.5_Missense_Mutation_p.G296C			Q5VTT5	MYOM3_HUMAN	myomesin 3	1403	Ig-like C2-type 4.							p.G1403C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCGTAGCGGCCGCTGTCTTCA	0.567000													10	35					0.00010058	0.000107582	0.001368	1	0
KLHL7	55975	broad.mit.edu	37	7	23213895	23213895	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:23213895A>G	ENST00000322231.7	+	12	2163	c.1673A>G	c.(1672-1674)aAt>aGt	p.N558S	KLHL7_ENST00000409689.1_Missense_Mutation_p.N532S|KLHL7_ENST00000545443.1_Missense_Mutation_p.N558S|KLHL7_ENST00000542558.1_Missense_Mutation_p.N355S|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000539124.1_Missense_Mutation_p.N504S|KLHL7_ENST00000339077.4_Missense_Mutation_p.N580S			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	580						Golgi apparatus|nucleolus|plasma membrane		p.N558S(1)|p.N580S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTGGAGCAAATGAAGAGACC	0.398000													40	48					0	0	0.008740	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697542	17697542	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:17697542G>A	ENST00000399080.2	-	1	2164	c.2141C>T	c.(2140-2142)cCt>cTt	p.P714L		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	714								p.P714L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACTTGTTGAGGACAACTCAT	0.318000													40	68					0	0	0.003214	0	0
SULF1	23213	broad.mit.edu	37	8	70515510	70515510	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:70515510G>A	ENST00000260128.4	+	11	1862	c.1145G>A	c.(1144-1146)gGc>gAc	p.G382D	SULF1_ENST00000458141.2_Missense_Mutation_p.G382D|SULF1_ENST00000402687.4_Missense_Mutation_p.G382D|SULF1_ENST00000419716.3_Missense_Mutation_p.G382D|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	382					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GATGTGGACGGCAAGTCTGTC	0.542000													4	118					0	0	0.009096	0	0
ATRX	546	broad.mit.edu	37	X	76939995	76939995	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:76939995C>A	ENST00000373344.5	-	9	967	c.753G>T	c.(751-753)aaG>aaT	p.K251N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K213N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	251	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.K251N(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGGACAACTCCTTTCGACCAA	0.423000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						101	151					3.86986e-33	7.14762e-33	0.003610	1	0
ITIH6	347365	broad.mit.edu	37	X	54817378	54817378	+	Silent	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:54817378A>G	ENST00000218436.6	-	4	537	c.508T>C	c.(508-510)Ttg>Ctg	p.L170L		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	170					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.L170L(1)									CTCTTCACCAATTGGCCAGGC	0.587000													17	26					0	0	0.006122	0	0
SESTD1	91404	broad.mit.edu	37	2	180041248	180041248	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:180041248C>A	ENST00000428443.3	-	4	498	c.182G>T	c.(181-183)aGa>aTa	p.R61I	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	61	CRAL-TRIO.				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	p.R61I(1)		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)			GGTAAATCCTCTAGCCTTACA	0.338000													25	39					1.38267e-23	2.29089e-23	0.005443	1	0
CPAMD8	27151	broad.mit.edu	37	19	17085965	17085965	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:17085965C>A	ENST00000443236.1	-	17	2184	c.2153G>T	c.(2152-2154)cGc>cTc	p.R718L	CPAMD8_ENST00000388925.4_Missense_Mutation_p.R457L	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	671						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R718L(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GACAGAGGAGCGCCGGCGTCG	0.567000													8	6					5.18039e-06	5.81718e-06	0.003080	1	0
FCGR2A	2212	broad.mit.edu	37	1	161479723	161479723	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:161479723G>A	ENST00000271450.6	+	4	516	c.478G>A	c.(478-480)Gga>Aga	p.G160R	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.G159R	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	160	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity	p.G159R(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)	CTTCCAGAATGGAAAATCCCA	0.512000													31	44					0	0	0.002445	0	0
MAPRE3	22924	broad.mit.edu	37	2	27247075	27247075	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:27247075C>G	ENST00000233121.2	+	4	577	c.379C>G	c.(379-381)Ctg>Gtg	p.L127V	MAPRE3_ENST00000402218.1_Missense_Mutation_p.L127V|MAPRE3_ENST00000405074.3_Missense_Mutation_p.L127V			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	127					cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity	p.L127V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACAACCCTCTGCTGGCGCG	0.443000													18	58					0	0	0.007413	0	0
MYH6	4624	broad.mit.edu	37	14	23866799	23866799	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:23866799C>A	ENST00000405093.3	-	16	1985	c.1915G>T	c.(1915-1917)Ggc>Tgc	p.G639C	MYH6_ENST00000356287.3_Missense_Mutation_p.G639C	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	639	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.G639C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTTTTCTTGCCTCCTTTGCTT	0.567000													26	83					5.52252e-06	6.16043e-06	0.002096	1	0
FLT4	2324	broad.mit.edu	37	5	180036999	180036999	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:180036999C>A	ENST00000261937.6	-	28	3791	c.3713G>T	c.(3712-3714)gGg>gTg	p.G1238V	FLT4_ENST00000502649.1_Missense_Mutation_p.G1238V|FLT4_ENST00000393347.3_Missense_Mutation_p.G1238V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1238					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.G1238L(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGCCAGGCACCCGGGAAAGGA	0.562000													48	131					1.65492e-34	3.0904e-34	0.003610	1	0
TAF1	6872	broad.mit.edu	37	X	70614045	70614045	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:70614045C>T	ENST00000449580.1	+	22	3404	c.3353C>T	c.(3352-3354)tCa>tTa	p.S1118L	TAF1_ENST00000276072.3_Missense_Mutation_p.S1139L|TAF1_ENST00000423759.1_Missense_Mutation_p.S1139L|TAF1_ENST00000373790.4_Missense_Mutation_p.S1118L			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1118					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.S1118L(1)|p.S1139L(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCTCAGCTTTCACGTGAACGG	0.448000													25	38					0	0	0.007291	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36230167	36230167	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:36230167G>A	ENST00000258840.6	-	6	805	c.415C>T	c.(415-417)Ctt>Ttt	p.L139F	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.L139F|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.L139F|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.L139F			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	139					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.L139F(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTATTCTGAAGAGCTTGCAAC	0.348000													11	42					0	0	0.008291	0	0
GTDC1	79712	broad.mit.edu	37	2	144714907	144714907	+	Splice_Site	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:144714907C>A	ENST00000409214.1	-	9	1264		c.e9-1		AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000409298.1_Splice_Site|GTDC1_ENST00000344850.4_Splice_Site|GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000542155.1_Splice_Site|GTDC1_ENST00000463875.2_Splice_Site|GTDC1_ENST00000241391.5_Intron|GTDC1_ENST00000392869.1_Splice_Site	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1						biosynthetic process		transferase activity, transferring glycosyl groups	p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GAAAAAATATCTTTTAAAAAC	0.363000													19	34					3.32936e-07	3.83415e-07	0.006122	1	0
DNAH17	8632	broad.mit.edu	37	17	76539980	76539980	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:76539980C>A	ENST00000389840.5	-	17	2615	c.2491G>T	c.(2491-2493)Gca>Tca	p.A831S	DNAH17_ENST00000585328.1_Missense_Mutation_p.A831S					dynein, axonemal, heavy chain 17									p.A831S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCCTGACTGCTGCGTAGCGC	0.502000													129	172					3.16226e-57	6.19619e-57	0.003610	1	0
PHF20L1	51105	broad.mit.edu	37	8	133806689	133806689	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:133806689G>A	ENST00000395386.2	+	3	416	c.117G>A	c.(115-117)gaG>gaA	p.E39E	PHF20L1_ENST00000395390.2_Silent_p.E39E|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Silent_p.E39E|PHF20L1_ENST00000395383.1_Silent_p.E39E|PHF20L1_ENST00000395376.1_Silent_p.E39E|PHF20L1_ENST00000315808.10_Silent_p.E39E|PHF20L1_ENST00000395382.3_5'UTR|PHF20L1_ENST00000395379.1_Silent_p.E39E	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	39	Tudor 1.						nucleic acid binding|zinc ion binding	p.E39E(3)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTGACTATGAGGAGGGCAAGA	0.373000													16	60					0	0	0.004990	0	0
ATRX	546	broad.mit.edu	37	X	76920185	76920185	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:76920185C>A	ENST00000373344.5	-	11	4106	c.3892G>T	c.(3892-3894)Gaa>Taa	p.E1298*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E1260*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1298					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.E1298*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTTCCCTTCTTCTGGCTCA	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						47	104					6.68952e-21	1.06906e-20	0.003214	1	0
ANAPC5	51433	broad.mit.edu	37	12	121746298	121746298	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:121746298C>G	ENST00000261819.3	-	17	2374	c.2253G>C	c.(2251-2253)ttG>ttC	p.L751F	ANAPC5_ENST00000344395.4_Missense_Mutation_p.L639F|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.L738F|ANAPC5_ENST00000535482.1_Missense_Mutation_p.L417F|ANAPC5_ENST00000441917.2_Missense_Mutation_p.L639F	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	751					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.L751F(1)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGGTTTATCAAGGGTACCC	0.522000													13	60					0	0	0.001368	0	0
TSPEAR	54084	broad.mit.edu	37	21	45941973	45941973	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr21:45941973A>C	ENST00000323084.4	-	9	1424	c.1359T>G	c.(1357-1359)agT>agG	p.S453R	C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Missense_Mutation_p.S385R	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	453					cell adhesion	extracellular region	structural molecule activity	p.S453R(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGTAGATGACACTGTCGATGT	0.637000													45	108					0	0	0.003610	0	0
PLGRKT	55848	broad.mit.edu	37	9	5431905	5431905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr9:5431905G>A	ENST00000223864.2	-	3	294	c.73C>T	c.(73-75)Cga>Tga	p.R25*	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	25						integral to membrane		p.R25*(1)									ACCTGAAGTCGAGCATTCATA	0.318000													6	43					0	0	0.001984	0	0
HSD17B4	3295	broad.mit.edu	37	5	118866961	118866961	+	Splice_Site	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:118866961G>T	ENST00000504811.1	+	23	2114	c.1929_splice	c.e23-1	p.G644_splice	HSD17B4_ENST00000414835.2_Splice_Site_p.G479_splice|HSD17B4_ENST00000509514.1_Splice_Site_p.G357_splice|HSD17B4_ENST00000513628.1_Splice_Site_p.G482_splice|HSD17B4_ENST00000515320.1_Splice_Site_p.G601_splice|HSD17B4_ENST00000256216.6_Splice_Site_p.G619_splice|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000510025.1_Splice_Site_p.G595_splice	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	619	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	p.G619C(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TCGTTGTTAGGGCGGGAAGCT	0.353000													71	31					1.07363e-35	2.0273e-35	0.003610	1	0
SPATA5	166378	broad.mit.edu	37	4	124011851	124011851	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:124011851G>T	ENST00000274008.3	+	14	2400	c.2331G>T	c.(2329-2331)agG>agT	p.R777S	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	777					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.R777S(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GTCCAGATAGGATAGACAAGG	0.373000													76	60					1.41257e-51	2.74395e-51	0.003610	1	0
COL19A1	1310	broad.mit.edu	37	6	70894799	70894799	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:70894799G>T	ENST00000322773.4	+	46	2950	c.2848G>T	c.(2848-2850)Gga>Tga	p.G950*	COL19A1_ENST00000393344.1_Nonsense_Mutation_p.G572*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	950	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.G950R(1)|p.G950*(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGCCCCAAAGGAGAACGTGT	0.408000													18	34					7.21436e-19	1.116e-18	0.008871	1	0
DPP10	57628	broad.mit.edu	37	2	116510839	116510839	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:116510839C>T	ENST00000410059.1	+	11	1520	c.1040C>T	c.(1039-1041)aCa>aTa	p.T347I	DPP10_ENST00000310323.8_Missense_Mutation_p.T340I|DPP10_ENST00000393147.2_Missense_Mutation_p.T351I|DPP10_ENST00000409163.1_Missense_Mutation_p.T297I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	347					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.T347I(1)|p.T340I(1)		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						TCCATCCTCACAGTCTGTGAG	0.373000													38	57					0	0	0.006230	0	0
PEG3	5178	broad.mit.edu	37	19	57325336	57325336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:57325336C>A	ENST00000326441.9	-	10	4837	c.4474G>T	c.(4474-4476)Gaa>Taa	p.E1492*	PEG3_ENST00000423103.2_Nonsense_Mutation_p.E1492*|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.E1368*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.E1366*|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1492	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1492*(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTTCACCTTCTTCTGGGTCT	0.488000													53	29					7.77372e-23	1.27549e-22	0.003610	1	0
ORC2	4999	broad.mit.edu	37	2	201800586	201800586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:201800586C>A	ENST00000234296.2	-	9	793	c.544G>T	c.(544-546)Gaa>Taa	p.E182*		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	182					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	p.E182*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GCAGAATATTCGCTTTCACTG	0.428000													18	46					2.94398e-08	3.4491e-08	0.007413	1	0
TRPM2	7226	broad.mit.edu	37	21	45819245	45819245	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr21:45819245A>T	ENST00000397928.1	+	14	2574	c.2129A>T	c.(2128-2130)gAg>gTg	p.E710V	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.E710V|TRPM2_ENST00000397932.2_Missense_Mutation_p.E710V|TRPM2_ENST00000300481.9_Missense_Mutation_p.E690V	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	710						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.E710V(1)		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						CGCGTGTCCGAGGCCTGGGGG	0.632000													25	53					0	0	0.007291	0	0
KDR	3791	broad.mit.edu	37	4	55963855	55963855	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:55963855C>A	ENST00000263923.4	-	18	2883	c.2588G>T	c.(2587-2589)aGg>aTg	p.R863M		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	863	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R863M(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGCTACTGTCCTGCAAGTTGC	0.403000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			20	68					1.64293e-13	2.25736e-13	0.003330	1	0
HTATSF1	27336	broad.mit.edu	37	X	135592352	135592352	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:135592352G>T	ENST00000535601.1	+	9	1458	c.1036G>T	c.(1036-1038)Gca>Tca	p.A346S	HTATSF1_ENST00000218364.4_Missense_Mutation_p.A346S	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	346	RRM 2.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	p.A346S(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CACTGCCCAGGCATGGGATGG	0.448000													116	221					6.85551e-66	1.35904e-65	0.003610	1	0
PPBP	5473	broad.mit.edu	37	4	74852991	74852991	+	Nonstop_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:74852991A>T	ENST00000296028.3	-	3	478	c.385T>A	c.(385-387)Taa>Aaa	p.*129K		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	0					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			AGAACAAATTAATCAGCAGAT	0.393000													38	77					0	0	0.004289	0	0
IGSF10	285313	broad.mit.edu	37	3	151166649	151166649	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:151166649C>A	ENST00000282466.3	-	4	1119	c.1120G>T	c.(1120-1122)Gtg>Ttg	p.V374L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	374					cell differentiation|multicellular organismal development|ossification	extracellular region		p.V374L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTTGCCACACTGGCTGAATG	0.388000													26	34					1.42536e-11	1.83882e-11	0.004656	1	0
MIR379	494328	broad.mit.edu	37	14	101488468	101488468	+	RNA	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:101488468C>G	ENST00000362218.3	+	0	103					NR_029871.1																						TCCACTAACTCTCAGTATCCA	0.498000													13	17					0	0	0.003163	0	0
HYDIN	54768	broad.mit.edu	37	16	71212908	71212908	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr16:71212908G>C	ENST00000393567.2	-	4	454	c.304C>G	c.(304-306)Cca>Gca	p.P102A	HYDIN_ENST00000448089.2_Missense_Mutation_p.P102A|HYDIN_ENST00000321489.5_Missense_Mutation_p.P102A|HYDIN_ENST00000288168.10_Missense_Mutation_p.P119A|HYDIN_ENST00000541601.1_Missense_Mutation_p.P119A|HYDIN_ENST00000393550.2_Missense_Mutation_p.P102A|HYDIN_ENST00000448691.1_Missense_Mutation_p.P102A|HYDIN_ENST00000538248.1_Missense_Mutation_p.P129A	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	102								p.P102A(4)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTCTGATGGAAAGGGCTGG	0.388000													76	17					0	0	0.003610	0	0
SI	6476	broad.mit.edu	37	3	164735641	164735641	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:164735641G>T	ENST00000264382.3	-	30	3603	c.3541C>A	c.(3541-3543)Cct>Act	p.P1181T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1181	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.P1181T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTAGAGCAGGAGTTGGCTGG	0.353000										HNSCC(35;0.089)			21	34					7.45023e-12	9.68529e-12	0.010504	1	0
KCNK17	89822	broad.mit.edu	37	6	39271904	39271904	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:39271904G>T	ENST00000453413.2	-	4	657	c.517C>A	c.(517-519)Cct>Act	p.P173T	KCNK17_ENST00000373231.4_Missense_Mutation_p.P173T	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	173						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.P173T(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GCCTTGTCAGGATCCTGTGGG	0.672000													9	19					4.3838e-07	5.0228e-07	0.001855	1	0
ELK1	2002	broad.mit.edu	37	X	47497343	47497343	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:47497343C>A	ENST00000247161.3	-	4	992	c.893G>T	c.(892-894)gGc>gTc	p.G298V	ELK1_ENST00000592066.1_Missense_Mutation_p.G244V|ELK1_ENST00000376983.3_Missense_Mutation_p.G298V|ELK1_ENST00000343894.4_Intron	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	298					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G298V(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CGCATGGCCGCCCGCCTGCCC	0.687000													4	7					1.23904e-05	1.36638e-05	0.000602	1	0
ZMYM3	9203	broad.mit.edu	37	X	70470376	70470376	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:70470376G>A	ENST00000373998.1	-	5	1676	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	ZMYM3_ENST00000353904.2_Missense_Mutation_p.R327C|ZMYM3_ENST00000373981.1_Missense_Mutation_p.R327C|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R327C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R329C|ZMYM3_ENST00000373982.1_Missense_Mutation_p.R329C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R329C|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	327					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.R327C(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGCCCCTTGCGCTGATAGGCA	0.577000													16	17					0	0	0.004990	0	0
SNRNP40	9410	broad.mit.edu	37	1	31769581	31769581	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:31769581C>A	ENST00000263694.4	-	1	36	c.18G>T	c.(16-18)aaG>aaT	p.K6N	SNRNP40_ENST00000446633.2_Missense_Mutation_p.K6N	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	6						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	p.K6N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						GGCCCTTACGCTTCTGCTGTT	0.637000													12	40					6.72482e-11	8.44978e-11	0.003163	1	0
PLK4	10733	broad.mit.edu	37	4	128812264	128812264	+	Silent	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:128812264A>T	ENST00000270861.5	+	8	2122	c.1848A>T	c.(1846-1848)tcA>tcT	p.S616S	PLK4_ENST00000514379.1_Silent_p.S575S|PLK4_ENST00000513090.1_Silent_p.S584S|PLK4_ENST00000515069.1_Silent_p.S538S|PLK4_ENST00000507249.1_Silent_p.S582S	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	616					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S616S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TACTTGATTCAGAGGAGGTGT	0.338000													57	56					0	0	0.003610	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349150	103349150	+	Missense_Mutation	SNP	C	C	A	rs12862951		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:103349150C>A	ENST00000357421.4	-	2	971	c.791G>T	c.(790-792)cGa>cTa	p.R264L		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	264					transport	integral to membrane|mitochondrial inner membrane		p.R264L(1)									GAGCAGCTTTCGGCCCCGAGT	0.552000													27	27					7.41945e-09	8.84577e-09	0.005443	1	0
USP26	83844	broad.mit.edu	37	X	132160099	132160099	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:132160099G>T	ENST00000511190.1	-	6	2619	c.2150C>A	c.(2149-2151)aCt>aAt	p.T717N	USP26_ENST00000406273.1_Missense_Mutation_p.T717N|USP26_ENST00000370832.1_Missense_Mutation_p.T717N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	717					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.T717N(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CAAATCTTTAGTAGGATTGAT	0.343000													52	66					6.03219e-31	1.08451e-30	0.003610	1	0
DDI1	414301	broad.mit.edu	37	11	103908338	103908338	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:103908338C>A	ENST00000302259.3	+	1	1031	c.788C>A	c.(787-789)gCc>gAc	p.A263D	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	263					proteolysis		aspartic-type endopeptidase activity	p.A263D(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GACTCGGGCGCCCAGATGACC	0.542000													22	71					2.21704e-12	2.92147e-12	0.002780	1	0
CA10	56934	broad.mit.edu	37	17	49713294	49713294	+	Silent	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:49713294C>T	ENST00000451037.2	-	7	1651	c.711G>A	c.(709-711)ggG>ggA	p.G237G	CA10_ENST00000442502.2_Silent_p.G237G|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Silent_p.G243G|CA10_ENST00000570565.1_Silent_p.G162G|CA10_ENST00000285273.4_Silent_p.G237G	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	237					brain development			p.G237G(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TAGTCATCGACCCATCGTAAG	0.403000													47	73					0	0	0.003610	0	0
METAP1D	254042	broad.mit.edu	37	2	172942609	172942609	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:172942609A>C	ENST00000315796.4	+	7	1176	c.789A>C	c.(787-789)gaA>gaC	p.E263D	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	263					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	p.E263D(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						GACATCCAGAAATTTGGCATC	0.403000													21	82					0	0	0.003330	0	0
SULF1	23213	broad.mit.edu	37	8	70513913	70513913	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:70513913G>C	ENST00000260128.4	+	10	1627	c.910G>C	c.(910-912)Ggg>Cgg	p.G304R	SULF1_ENST00000458141.2_Missense_Mutation_p.G304R|SULF1_ENST00000402687.4_Missense_Mutation_p.G304R|SULF1_ENST00000419716.3_Missense_Mutation_p.G304R|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	304					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.G304R(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CGTGGAGACGGGGGAGCTGGA	0.448000													38	84					0	0	0.007835	0	0
LSG1	55341	broad.mit.edu	37	3	194373629	194373629	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:194373629C>A	ENST00000265245.5	-	8	1316	c.1002G>T	c.(1000-1002)caG>caT	p.Q334H		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	334					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	p.Q334H(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CCTTCCAGTCCTGGCTGCAGT	0.522000													79	86					1.38806e-43	2.66571e-43	0.003610	1	0
CLCA4	22802	broad.mit.edu	37	1	87031533	87031533	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:87031533C>A	ENST00000370563.3	+	6	826	c.784C>A	c.(784-786)Cta>Ata	p.L262I	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	262						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.L262I(1)		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)		AGCTCCAAGCCTACAAAACAT	0.323000													19	43					7.41877e-09	8.84577e-09	0.001882	1	0
OR4A5	81318	broad.mit.edu	37	11	51412190	51412190	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:51412190G>C	ENST00000319760.6	-	1	258	c.206C>G	c.(205-207)gCt>gGt	p.A69G		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A69G(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)				GGAATATGCAGCATCTATAAA	0.433000													23	20					0	0	0.002780	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718244	142718244	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:142718244C>G	ENST00000381779.4	-	2	906	c.681G>C	c.(679-681)tgG>tgC	p.W227C	SLITRK4_ENST00000338017.4_Missense_Mutation_p.W227C|SLITRK4_ENST00000356928.1_Missense_Mutation_p.W227C	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	227	LRRCT 1.					integral to membrane		p.W227C(1)		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)					TGTTCTCCAGCCAAGCTTTTA	0.413000													47	89					0	0	0.003610	0	0
FAT2	2196	broad.mit.edu	37	5	150924435	150924435	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:150924435G>C	ENST00000261800.5	-	9	6265	c.6253C>G	c.(6253-6255)Cca>Gca	p.P2085A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2085	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.P2085A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATCCCCTGGCTCTGTGCCA	0.453000													53	20					0	0	0.003610	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62010767	62010767	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:62010767C>A	ENST00000244926.3	+	2	160	c.62C>A	c.(61-63)gCc>gAc	p.A21D	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	21						extracellular space	binding	p.A21D(1)		breast(1)|endometrium(1)|lung(1)	3						GCAGCCAATGCCGAGTTCTGC	0.438000													34	31					9.04072e-19	1.39533e-18	0.003271	1	0
CASS4	57091	broad.mit.edu	37	20	55027266	55027266	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:55027266C>A	ENST00000371336.3	+	5	1235	c.1034C>A	c.(1033-1035)aCc>aAc	p.T345N	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.T345N	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	345					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.T345N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CAGCAGAACACCAAGCCCAAT	0.493000													28	49					2.44723e-14	3.43222e-14	0.004656	1	0
TAS2R16	50833	broad.mit.edu	37	7	122635640	122635640	+	Missense_Mutation	SNP	C	C	G	rs79856696	byFrequency	TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:122635640C>G	ENST00000249284.2	-	1	114	c.49G>C	c.(49-51)Gag>Cag	p.E17Q		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	17					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.E17Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTCAAGGACTCAAGCACATAG	0.448000													10	52					0	0	0.008291	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263191	144263191	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:144263191A>T	ENST00000360537.2	-	5	2675	c.762T>A	c.(760-762)agT>agA	p.S254R	PLAGL1_ENST00000367571.1_Missense_Mutation_p.S254R|PLAGL1_ENST00000429150.1_Missense_Mutation_p.S254R|PLAGL1_ENST00000367572.1_Missense_Mutation_p.S202R|PLAGL1_ENST00000416623.1_Missense_Mutation_p.S254R|PLAGL1_ENST00000392307.1_Missense_Mutation_p.S202R|PLAGL1_ENST00000444202.1_Missense_Mutation_p.S254R|PLAGL1_ENST00000392309.1_Missense_Mutation_p.S254R|PLAGL1_ENST00000354765.2_Missense_Mutation_p.S254R|PLAGL1_ENST00000437412.1_Missense_Mutation_p.S202R			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	254					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S254R(1)		endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CTGGCAAGCTACTTGCAAGCC	0.602000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	56					0	0	0.003330	0	0
FLT4	2324	broad.mit.edu	37	5	180037000	180037000	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:180037000C>A	ENST00000261937.6	-	28	3790	c.3712G>T	c.(3712-3714)Ggg>Tgg	p.G1238W	FLT4_ENST00000502649.1_Missense_Mutation_p.G1238W|FLT4_ENST00000393347.3_Missense_Mutation_p.G1238W	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1238					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.G1238L(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCCAGGCACCCGGGAAAGGAC	0.562000													45	134					1.5731e-28	2.77654e-28	0.002852	1	0
LRRC32	2615	broad.mit.edu	37	11	76372225	76372225	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:76372225T>A	ENST00000407242.2	-	3	654	c.412A>T	c.(412-414)Agc>Tgc	p.S138C	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.S138C|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.S138C	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	138						integral to plasma membrane		p.S138C(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCAGGCCGCTGTACAGGCTG	0.687000													14	40					0	0	0.004007	0	0
COL24A1	255631	broad.mit.edu	37	1	86488261	86488261	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:86488261G>C	ENST00000370571.2	-	17	2528	c.2162C>G	c.(2161-2163)aCa>aGa	p.T721R	COL24A1_ENST00000436319.1_Missense_Mutation_p.T721R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	721					cell adhesion	collagen	extracellular matrix structural constituent	p.T721R(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTCTCCTGCTGTGCCTTGTTC	0.333000													17	37					0	0	0.002299	0	0
MARCO	8685	broad.mit.edu	37	2	119731997	119731997	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:119731997G>T	ENST00000541757.1	+	6	695	c.315G>T	c.(313-315)atG>atT	p.M105I	MARCO_ENST00000327097.4_Missense_Mutation_p.M183I			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	183					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.M183I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGGGGCTATGGGACGAGATG	0.577000													5	16					0.00116845	0.0012246	0.001168	1	0
ANGPTL5	253935	broad.mit.edu	37	11	101777879	101777879	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:101777879C>G	ENST00000334289.3	-	3	791	c.196G>C	c.(196-198)Gat>Cat	p.D66H		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	66					signal transduction	extracellular space	receptor binding	p.D66H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GTTTTAACATCACATGATTCC	0.279000													9	19					0	0	0.004482	0	0
RPE65	6121	broad.mit.edu	37	1	68895518	68895518	+	Silent	SNP	G	G	T	rs121917745		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:68895518G>T	ENST00000262340.5	-	14	1596	c.1543C>A	c.(1543-1545)Cgg>Agg	p.R515R		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	515			R -> W (in RP20; this mutation has been found in compound heterozygosity in LCA2).		visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.R515R(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ACTTCAGCCCGGGCAACTTCA	0.448000													34	32					9.78485e-24	1.63322e-23	0.002836	1	0
INPP4A	3631	broad.mit.edu	37	2	99170827	99170827	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:99170827G>T	ENST00000074304.5	+	16	1849	c.1456G>T	c.(1456-1458)Gcc>Tcc	p.A486S	INPP4A_ENST00000409540.3_Missense_Mutation_p.A486S|INPP4A_ENST00000409851.3_Missense_Mutation_p.A481S|INPP4A_ENST00000545415.1_Missense_Mutation_p.A486S|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Missense_Mutation_p.A486S|INPP4A_ENST00000523221.1_Missense_Mutation_p.A486S	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	486					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.A486S(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGCCTCCAAGGCCTCTCCCAC	0.602000													7	17					0.00307968	0.00320287	0.003080	1	0
OR2T4	127074	broad.mit.edu	37	1	248525735	248525735	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:248525735G>C	ENST00000366475.1	+	1	853	c.853G>C	c.(853-855)Ggg>Cgg	p.G285R		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G285W(1)|p.G285R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CCTCTTCTATGGGGCTGCCAT	0.547000													43	103					0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113326136	113326136	+	Splice_Site	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:113326136T>A	ENST00000297405.5	-	49	7939	c.7696_splice	c.e49+1	p.I2565_splice	CSMD3_ENST00000343508.3_Splice_Site_p.I2525_splice|CSMD3_ENST00000455883.2_Splice_Site_p.I2461_splice|CSMD3_ENST00000352409.3_Splice_Site_p.I2495_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2565	CUB 14.					integral to membrane|plasma membrane		p.I2565I(1)|p.I2525I(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						TTTACATACCTATATATCTTA	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	64					0	0	0.006122	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425016	71425016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:71425016C>A	ENST00000373657.1	-	3	3834	c.3232G>T	c.(3232-3234)Gag>Tag	p.E1078*	ERCC6L_ENST00000334463.3_Nonsense_Mutation_p.E1201*|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1201					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	p.E1201*(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ACAAGAGTCTCATAGTCATTT	0.468000													26	37					2.44723e-14	3.43222e-14	0.004656	1	0
MARCH1	55016	broad.mit.edu	37	4	164450168	164450168	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:164450168A>T	ENST00000503008.1	-	8	1578	c.602T>A	c.(601-603)cTg>cAg	p.L201Q	MARCH1_ENST00000339875.5_Missense_Mutation_p.L184Q|MARCH1_ENST00000274056.7_Missense_Mutation_p.L201Q|MARCH1_ENST00000514618.1_Missense_Mutation_p.L457Q	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	201					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L184Q(1)|p.L201Q(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TACCACAACCAGTTTTGTCCA	0.418000													32	27					0	0	0.003755	0	0
VNN1	8876	broad.mit.edu	37	6	133014272	133014272	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:133014272C>T	ENST00000367928.4	-	4	730	c.717G>A	c.(715-717)atG>atA	p.M239I		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	239	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	p.M239I(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GCAAAACATTCATCCAAGCTG	0.433000													14	38					0	0	0.002450	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736044	12736044	+	Silent	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:12736044T>C	ENST00000380682.1	+	16	3605	c.3099T>C	c.(3097-3099)gaT>gaC	p.D1033D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1033					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.D1023D(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGCTGGCCGATGGTGAGGGGA	0.502000													39	23					0	0	0.008740	0	0
OR8D4	338662	broad.mit.edu	37	11	123777147	123777147	+	Silent	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:123777147A>T	ENST00000321355.2	+	1	39	c.9A>T	c.(7-9)gtA>gtT	p.V3V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V3V(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GAATGGGTGTAAAAAACCATT	0.383000													29	17					0	0	0.005443	0	0
THOC2	57187	broad.mit.edu	37	X	122771948	122771948	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:122771948G>T	ENST00000245838.8	-	18	1898	c.1867C>A	c.(1867-1869)Cca>Aca	p.P623T	THOC2_ENST00000355725.4_Missense_Mutation_p.P623T|THOC2_ENST00000491737.1_Missense_Mutation_p.P508T	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	623					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.P544T(1)|p.P623T(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCCTTTTCTGGATTAGCTAAA	0.308000													14	39					2.62699e-14	3.6767e-14	0.003163	1	0
TFPI2	7980	broad.mit.edu	37	7	93516687	93516687	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:93516687G>A	ENST00000222543.5	-	4	829	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	173	BPTI/Kunitz inhibitor 3.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.R173C(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AAATAATAGCGAGTCACATTG	0.378000													35	70					0	0	0.006230	0	0
SPC25	57405	broad.mit.edu	37	2	169745772	169745772	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:169745772C>G	ENST00000282074.2	-	3	304	c.163G>C	c.(163-165)Gaa>Caa	p.E55Q	SPC25_ENST00000472216.2_5'UTR	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	55	Interaction with the N-terminus of SPBC24.|Interaction with the NDC80-NUF2 subcomplex.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.E55Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						ACCATTCGTTCTTCTTCCTTT	0.303000													27	50					0	0	0.006320	0	0
SULF2	55959	broad.mit.edu	37	20	46313277	46313277	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:46313277C>A	ENST00000359930.4	-	6	1637	c.786G>T	c.(784-786)atG>atT	p.M262I	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Missense_Mutation_p.M262I|SULF2_ENST00000467815.1_Missense_Mutation_p.M262I|SULF2_ENST00000484875.1_Missense_Mutation_p.M262I	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	262					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.M262I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCGTGTAGCGCATGATCCAGT	0.592000													12	19					7.03913e-09	8.43697e-09	0.001368	1	0
PKD1L2	114780	broad.mit.edu	37	16	81167252	81167252	+	RNA	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr16:81167252G>T	ENST00000525539.1	-	0	5772				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTGAGAGGTGGCTGGTAGACA	0.552000													19	10					5.03518e-11	6.38609e-11	0.007413	1	0
SERPINA7	6906	broad.mit.edu	37	X	105280839	105280839	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:105280839C>A	ENST00000327674.4	-	1	546	c.211G>T	c.(211-213)Gtg>Ttg	p.V71L	SERPINA7_ENST00000372563.1_Missense_Mutation_p.V71L			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	71					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.V71L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GAAATGCTCACAGGGGAAAAG	0.483000													49	84					1.21353e-23	2.0156e-23	0.003610	1	0
PTPRB	5787	broad.mit.edu	37	12	70948943	70948943	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:70948943C>T	ENST00000334414.6	-	20	5184	c.5140G>A	c.(5140-5142)Gat>Aat	p.D1714N	PTPRB_ENST00000451516.2_Missense_Mutation_p.D1406N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1626N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1406N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1496N|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1406N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1496	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D1496N(2)|p.D1714N(1)		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)			AACTTACCATCAGCCTCTCTC	0.433000													12	68					0	0	0.003163	0	0
SATB2	23314	broad.mit.edu	37	2	200188633	200188633	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:200188633C>A	ENST00000443023.1	-	8	2723	c.1258G>T	c.(1258-1260)Gcc>Tcc	p.A420S	SATB2_ENST00000428695.1_Missense_Mutation_p.A361S|SATB2_ENST00000260926.5_Missense_Mutation_p.A479S|SATB2_ENST00000417098.1_Missense_Mutation_p.A479S|SATB2_ENST00000457245.1_Missense_Mutation_p.A479S			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	479						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.A479T(1)|p.A479S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGATGTTGGCGCCGTCCACC	0.468000													38	71					3.61848e-18	5.50921e-18	0.007835	1	0
ZBTB33	10009	broad.mit.edu	37	X	119389209	119389209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:119389209C>T	ENST00000326624.2	+	2	2167	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	ZBTB33_ENST00000557385.1_Nonsense_Mutation_p.Q647*	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	647	Interaction with CTNND1 (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	p.Q647*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTTTATTCAGCAGGAAAATGA	0.353000													39	102					0	0	0.006999	0	0
DNAH8	1769	broad.mit.edu	37	6	38840708	38840708	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:38840708G>T	ENST00000359357.3	+	49	6867	c.6613G>T	c.(6613-6615)Ggt>Tgt	p.G2205C	DNAH8_ENST00000441566.1_Missense_Mutation_p.G2169C|DNAH8_ENST00000449981.2_Missense_Mutation_p.G2422C					dynein, axonemal, heavy chain 8									p.G2205C(2)		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						CATTTTAGATGGTCCTGTGGA	0.348000													27	51					2.79863e-10	3.48412e-10	0.004656	1	0
SRCAP	10847	broad.mit.edu	37	16	30740811	30740811	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr16:30740811G>T	ENST00000262518.4	+	27	6430	c.6045G>T	c.(6043-6045)tgG>tgT	p.W2015C	SRCAP_ENST00000395059.2_Missense_Mutation_p.W1953C|SRCAP_ENST00000344771.4_Missense_Mutation_p.W1857C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2015					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.W2015C(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGAGCTCTGGCCCCGGGCTC	0.597000													29	64					2.46105e-21	3.94235e-21	0.002096	1	0
HEXIM1	10614	broad.mit.edu	37	17	43227463	43227463	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:43227463G>A	ENST00000332499.2	+	1	2780	c.906G>A	c.(904-906)gaG>gaA	p.E302E		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	302	Mediates interaction with CCNT1.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	p.E302E(1)		breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGCGCATGGAGGACGAGAACA	0.647000													37	83					0	0	0.003610	0	0
OR2T33	391195	broad.mit.edu	37	1	248436889	248436889	+	Silent	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:248436889C>G	ENST00000318021.2	-	1	249	c.228G>C	c.(226-228)gtG>gtC	p.V76V		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V76V(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			CCATTTTGGGCACAGTGGTGG	0.567000													34	129					0	0	0.002522	0	0
MROH7	374977	broad.mit.edu	37	1	55158164	55158164	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:55158164G>T	ENST00000414150.2	+	16	3057	c.2779G>T	c.(2779-2781)Gag>Tag	p.E927*	MROH7_ENST00000409996.1_Nonsense_Mutation_p.E495*|MROH7_ENST00000395690.2_Nonsense_Mutation_p.E927*|MROH7_ENST00000545244.1_Nonsense_Mutation_p.E495*|MROH7_ENST00000454855.2_Nonsense_Mutation_p.E445*|MROH7_ENST00000339553.5_Nonsense_Mutation_p.E927*|MROH7_ENST00000421030.2_Nonsense_Mutation_p.E927*					maestro heat-like repeat family member 7									p.E927*(2)									CACGTTTCTGGAGGACCAGGG	0.597000													18	33					1.2644e-06	1.43653e-06	0.010504	1	0
ST18	9705	broad.mit.edu	37	8	53084901	53084901	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:53084901C>A	ENST00000276480.7	-	10	1203	c.520G>T	c.(520-522)Gat>Tat	p.D174Y		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	174						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D174Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTCTTCCATCATCAGAATGA	0.428000													38	62					9.85521e-28	1.72594e-27	0.006230	1	0
ITGA2	3673	broad.mit.edu	37	5	52376359	52376359	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:52376359C>G	ENST00000296585.5	+	25	3090	c.2947C>G	c.(2947-2949)Cca>Gca	p.P983A		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	983					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	p.P983A(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGGAAGTGTTCCAGTAAGCAT	0.423000													13	67					0	0	0.003163	0	0
GPRIN3	285513	broad.mit.edu	37	4	90168977	90168977	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:90168977C>A	ENST00000333209.3	-	2	2803	c.2285G>T	c.(2284-2286)cGc>cTc	p.R762L		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	762								p.R762L(1)|p.R762H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCAGTTGGGGCGTCGGAAGTT	0.488000													29	95					1.13719e-10	1.42096e-10	0.008361	1	0
KATNAL2	83473	broad.mit.edu	37	18	44627236	44627236	+	Splice_Site	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr18:44627236G>C	ENST00000245121.5	+	15	1455		c.e15-1		KATNAL2_ENST00000356157.7_Splice_Site	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2							cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.?(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TCTTATCCTAGAAAGCAGCGA	0.438000											OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	22					0	0	0.010504	0	0
CCDC120	90060	broad.mit.edu	37	X	48920019	48920019	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:48920019G>T	ENST00000376396.3	+	4	289	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S	CCDC120_ENST00000603986.1_Missense_Mutation_p.A59S|CCDC120_ENST00000597275.1_Missense_Mutation_p.A24S|CCDC120_ENST00000536628.2_Missense_Mutation_p.A12S|CCDC120_ENST00000496529.2_Missense_Mutation_p.A24S|CCDC120_ENST00000422185.2_Missense_Mutation_p.A24S	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	24							protein binding	p.A24S(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CGGAGAGGCTGCCCCCCAGGT	0.637000													17	41					9.16793e-09	1.08728e-08	0.004990	1	0
USP9X	8239	broad.mit.edu	37	X	41088907	41088907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:41088907C>T	ENST00000324545.7	+	43	7939	c.7306C>T	c.(7306-7308)Cag>Tag	p.Q2436*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q2436*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2436					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.Q2429*(1)|p.Q2436*(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGGCAATCCTCAGTACACTTA	0.428000													17	94					0	0	0.006122	0	0
CCDC47	57003	broad.mit.edu	37	17	61833629	61833629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:61833629C>A	ENST00000225726.5	-	8	1301	c.919G>T	c.(919-921)Gaa>Taa	p.E307*	CCDC47_ENST00000582252.1_Nonsense_Mutation_p.E307*|CCDC47_ENST00000403162.3_Nonsense_Mutation_p.E307*	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	307						integral to membrane	protein binding	p.E307*(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TCTGTGACTTCTCCCATCTCT	0.443000													32	45					2.68265e-12	3.52258e-12	0.002836	1	0
MAX	4149	broad.mit.edu	37	14	65544631	65544631	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:65544631C>T	ENST00000284165.6	-	4	443	c.295G>A	c.(295-297)Ggt>Agt	p.G99S	MAX_ENST00000358664.4_Splice_Site_p.V99_splice|MAX_ENST00000556443.1_Missense_Mutation_p.G90S|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Splice_Site_p.G90_splice|MAX_ENST00000358402.4_Splice_Site_p.V90_splice|MAX_ENST00000341653.2_Intron|MAX_ENST00000557746.1_Splice_Site_p.G90_splice|MAX_ENST00000557277.1_Splice_Site_p.K7_splice|MAX_ENST00000555419.1_Splice_Site_p.V63_splice|MAX_ENST00000556979.1_Splice_Site_p.G99_splice	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	0	Leucine-zipper.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.G99S(1)|p.V99I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GGGTGCTCACCTTGCTGCTCC	0.557000													17	11					0	0	0.004990	0	0
CSTF2	1478	broad.mit.edu	37	X	100087795	100087795	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:100087795C>A	ENST00000415585.2	+	11	1186	c.1164C>A	c.(1162-1164)ccC>ccA	p.P388P	CSTF2_ENST00000486615.1_3'UTR|CSTF2_ENST00000372972.2_Silent_p.P368P			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	368	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	p.P368P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GAGGACCACCCCCACATGAAC	0.562000													9	10					0.000673444	0.000709109	0.008291	1	0
PROL1	58503	broad.mit.edu	37	4	71275676	71275676	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:71275676C>A	ENST00000399575.2	+	3	805	c.631C>A	c.(631-633)Cgt>Agt	p.R211S		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	211	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.N210_R211>KS(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCTCGCCAACCGTCCTCACAC	0.453000													46	50					1.48734e-19	2.32203e-19	0.003214	1	0
NXF4	55999	broad.mit.edu	37	X	101818278	101818278	+	RNA	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:101818278G>T	ENST00000360035.2	+	0	868					NR_002216.1													p.R42L(1)		endometrium(2)|lung(8)	10						TTATATGGACGGCAACTTTGG	0.552000													26	38					3.7963e-18	5.76697e-18	0.003330	1	0
CACNA2D4	93589	broad.mit.edu	37	12	1995390	1995390	+	Splice_Site	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:1995390G>A	ENST00000382722.5	-	8	1354	c.993_splice	c.e8+1	p.A331_splice	CACNA2D4_ENST00000588077.1_Splice_Site_p.A267_splice|CACNA2D4_ENST00000587995.1_Splice_Site_p.A331_splice|CACNA2D4_ENST00000586184.1_Splice_Site_p.A331_splice|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Splice_Site_p.A267_splice	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	331	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.A331V(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CACATTTACCGCTATGATATT	0.507000													16	11					0	0	0.008871	0	0
ASH1L	55870	broad.mit.edu	37	1	155449759	155449759	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:155449759T>A	ENST00000368346.3	-	3	3541	c.2902A>T	c.(2902-2904)Aaa>Taa	p.K968*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.K968*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	968					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.K968*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTAATTTTTTTATCTGGTTCC	0.348000													46	93					0	0	0.002852	0	0
LVRN	206338	broad.mit.edu	37	5	115338980	115338980	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:115338980G>T	ENST00000357872.4	+	12	2064	c.1940G>T	c.(1939-1941)tGg>tTg	p.W647L	AQPEP_ENST00000395528.2_Missense_Mutation_p.W164L	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		647					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.W647L(1)									GACCATGACTGGGTGATTTTG	0.294000													69	23					3.61678e-42	6.90662e-42	0.003610	1	0
MAPK10	5602	broad.mit.edu	37	4	87019676	87019676	+	Splice_Site	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:87019676C>T	ENST00000395169.3	-	9	1409		c.e9+1		MAPK10_ENST00000359221.3_Splice_Site|MAPK10_ENST00000449047.2_Intron|MAPK10_ENST00000395161.2_Splice_Site|MAPK10_ENST00000395166.1_Splice_Site|MAPK10_ENST00000361569.2_Splice_Site|MAPK10_ENST00000395157.3_Splice_Site|MAPK10_ENST00000395160.3_Splice_Site	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	p.?(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TACAAGGATACAGTCCCTTCC	0.408000													15	77					0	0	0.003163	0	0
SLC1A3	6507	broad.mit.edu	37	5	36671334	36671334	+	Splice_Site	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:36671334A>T	ENST00000265113.4	+	4	999	c.524_splice	c.e4+1	p.R175_splice	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Splice_Site_p.R175_splice	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	175					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R175W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GGACTTGATCAGGTATGTCCT	0.493000													8	34					0	0	0.003080	0	0
ITGAX	3687	broad.mit.edu	37	16	31391128	31391128	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr16:31391128G>T	ENST00000268296.4	+	25	3040	c.2919G>T	c.(2917-2919)gtG>gtT	p.V973V	ITGAX_ENST00000562522.1_Silent_p.V973V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	973					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.V973V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACTTCTGGGTGCCTGTGGAGC	0.597000													10	12					6.40141e-05	6.87974e-05	0.000978	1	0
KRTAP5-9	3846	broad.mit.edu	37	11	71260011	71260011	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:71260011A>T	ENST00000528743.2	+	1	546	c.308A>T	c.(307-309)aAg>aTg	p.K103M		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	103	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament		p.K103M(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						AGCTGCTGCAAGCCCTACTGC	0.617000													29	45					0	0	0.007291	0	0
SLC6A1	6529	broad.mit.edu	37	3	11078613	11078613	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:11078613C>A	ENST00000287766.4	+	16	2182	c.1761C>A	c.(1759-1761)ccC>ccA	p.P587P	SLC6A1_ENST00000536032.1_Silent_p.P409P	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	587				QP -> HA (in Ref. 1; CAA38484).	neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P587P(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CTGAGCAGCCCCAGGCGGGCA	0.647000													17	11					1.00905e-13	1.39207e-13	0.008871	1	0
GPR161	23432	broad.mit.edu	37	1	168066241	168066241	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:168066241G>A	ENST00000367838.1	-	5	917	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	GPR161_ENST00000271357.5_Silent_p.L202L|GPR161_ENST00000361697.2_Silent_p.L202L|GPR161_ENST00000537209.1_Silent_p.L222L|GPR161_ENST00000539777.1_Silent_p.L124L|GPR161_ENST00000367836.1_Silent_p.L70L|GPR161_ENST00000546300.1_Silent_p.L88L|GPR161_ENST00000367835.1_Silent_p.L202L	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	202					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L202L(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AGCATGACCAGAAAGGGGAAG	0.587000													8	24					0	0	0.003080	0	0
NOX1	27035	broad.mit.edu	37	X	100105367	100105367	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:100105367C>T	ENST00000372966.3	-	9	1111	c.906G>A	c.(904-906)atG>atA	p.M302I	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.M265I|NOX1_ENST00000217885.5_Missense_Mutation_p.M302I	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	302	FAD-binding FR-type.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	p.M302I(1)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGGATGGGTGCATAACAACCT	0.463000													8	7					0	0	0.004482	0	0
HAT1	8520	broad.mit.edu	37	2	172821868	172821868	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:172821868G>T	ENST00000264108.4	+	5	355	c.319G>T	c.(319-321)Gtt>Ttt	p.V107F	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.V22F	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	107					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	p.V107F(1)		breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGCAGATGATGTTGAGGGCAA	0.313000													15	40					6.94344e-10	8.56527e-10	0.006122	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140788541	140788541	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:140788541G>T	ENST00000520790.1	+	1	772	c.772G>T	c.(772-774)Ggg>Tgg	p.G258W	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.G258W(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCCCCCTGGGTCCCCTGT	0.473000													29	12					2.48779e-11	3.19118e-11	0.005443	1	0
HERC5	51191	broad.mit.edu	37	4	89415467	89415467	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:89415467G>C	ENST00000264350.3	+	18	2582	c.2429G>C	c.(2428-2430)aGt>aCt	p.S810T	HERC5_ENST00000508159.1_Missense_Mutation_p.S448T	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	810	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	p.S810I(2)|p.S810T(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AAAGAACTCAGTCCTGATTTG	0.383000													38	24					0	0	0.007835	0	0
SRFBP1	153443	broad.mit.edu	37	5	121311046	121311046	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:121311046G>T	ENST00000339397.4	+	3	234	c.162G>T	c.(160-162)cgG>cgT	p.R54R		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		p.R54R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		ACCAAAGACGGGCGCAAAGAT	0.388000													64	20					8.27458e-37	1.57124e-36	0.003610	1	0
PCLO	27445	broad.mit.edu	37	7	82585288	82585288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:82585288C>A	ENST00000423517.2	-	5	5318	c.4981G>T	c.(4981-4983)Gga>Tga	p.G1661*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.G1661*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1592					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G1661*(2)|p.G1592*(1)		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						AGCCCTCCTCCTCCAGTAACT	0.368000													54	77					1.00221e-16	1.49228e-16	0.003610	1	0
PCSK7	9159	broad.mit.edu	37	11	117089187	117089187	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:117089187C>A	ENST00000320934.3	-	12	2159	c.1529G>T	c.(1528-1530)tGg>tTg	p.W510L	PCSK7_ENST00000540028.1_Missense_Mutation_p.W151L	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	510	Homo B/P.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	p.W510L(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CTTACCATTCCACAGGACCTC	0.517000			T	IGH@	MLCLS								48	48					3.50607e-19	5.44851e-19	0.003610	1	0
GCN1L1	10985	broad.mit.edu	37	12	120599747	120599747	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:120599747C>A	ENST00000300648.6	-	21	2291	c.2279G>T	c.(2278-2280)cGg>cTg	p.R760L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	760					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.R760L(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAACTCCTCCCGCGTCACCAG	0.587000													27	50					2.44723e-14	3.43222e-14	0.004656	1	0
ZFHX3	463	broad.mit.edu	37	16	72992181	72992181	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr16:72992181G>A	ENST00000268489.5	-	2	2536	c.1864C>T	c.(1864-1866)Cac>Tac	p.H622Y	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	622					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	p.H622Y(1)		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)				GAGCCAGCGTGCTGGTGATGG	0.617000													24	10					0	0	0.005443	0	0
NTNG2	84628	broad.mit.edu	37	9	135102363	135102363	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr9:135102363C>A	ENST00000393229.3	+	4	1761	c.985C>A	c.(985-987)Cgg>Agg	p.R329R	NTNG2_ENST00000393228.4_Silent_p.R329R|NTNG2_ENST00000360670.3_Silent_p.R329R|NTNG2_ENST00000372179.3_Silent_p.R329R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	329	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane		p.R329R(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCGGTCCTGGCGGGCCGGCTC	0.677000													4	9					3.59834e-05	3.90445e-05	0.001168	1	0
IGKV6D-21	28870	broad.mit.edu	37	2	90060948	90060948	+	RNA	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:90060948G>T	ENST00000436451.2	+	0	362																											TAGCCTGGAAGCTGAAGATGC	0.498000													45	99					1.07234e-20	1.70968e-20	0.003610	1	0
C4orf33	132321	broad.mit.edu	37	4	130030700	130030700	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:130030700A>T	ENST00000281146.4	+	5	1088	c.367A>T	c.(367-369)Agt>Tgt	p.S123C	C4orf33_ENST00000502887.1_Missense_Mutation_p.S123C|C4orf33_ENST00000425929.1_Missense_Mutation_p.S123C	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	123								p.S123C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TCTCCCTTGGAGTTATTTTCC	0.373000													33	22					0	0	0.002836	0	0
MUC17	140453	broad.mit.edu	37	7	100675916	100675916	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:100675916A>T	ENST00000306151.4	+	3	1283	c.1219A>T	c.(1219-1221)Agt>Tgt	p.S407C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	407	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S407C(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATTGGTGGCCAGTTCTGAGGC	0.463000													75	143					0	0	0.003610	0	0
FOXL2	668	broad.mit.edu	37	3	138665316	138665316	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:138665316G>A	ENST00000330315.3	-	1	666	c.249C>T	c.(247-249)taC>taT	p.Y83Y		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	83					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|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|ubiquitin conjugating enzyme binding	p.Y83Y(1)		large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						TCGCGATGATGTACTGGTAGA	0.592000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						23	34					0	0	0.003330	0	0
NCAPD2	9918	broad.mit.edu	37	12	6631034	6631034	+	Silent	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:6631034C>G	ENST00000315579.5	+	15	2584	c.1785C>G	c.(1783-1785)gtC>gtG	p.V595V	NCAPD2_ENST00000545962.1_Silent_p.V550V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	595	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	p.V595V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GACAGACTGTCTGTAAAAATA	0.468000													17	41					0	0	0.004990	0	0
OPN1SW	611	broad.mit.edu	37	7	128413825	128413825	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:128413825C>T	ENST00000249389.2	-	4	804	c.805G>A	c.(805-807)Gcc>Acc	p.A269T		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	269					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	p.A269T(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ATGTACATGGCGAAGGCCGCG	0.537000													12	19					0	0	0.001368	0	0
IL36G	56300	broad.mit.edu	37	2	113742503	113742503	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:113742503C>A	ENST00000259205.4	+	5	456	c.387C>A	c.(385-387)acC>acA	p.T129T	IL36G_ENST00000376489.2_Silent_p.T94T	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	129					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.T129T(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GGACCTCCACCCTTGAGTCTG	0.522000													49	56					4.86159e-25	8.23669e-25	0.003610	1	0
PRKD1	5587	broad.mit.edu	37	14	30133012	30133012	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:30133012T>A	ENST00000331968.5	-	4	818	c.589A>T	c.(589-591)Agc>Tgc	p.S197C	PRKD1_ENST00000415220.2_Missense_Mutation_p.S197C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	197					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.S197C(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTCACACCGCTGCAATTGTTG	0.433000													87	190					0	0	0.003610	0	0
SLC12A1	6557	broad.mit.edu	37	15	48513130	48513130	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr15:48513130C>G	ENST00000396577.3	+	4	780	c.565C>G	c.(565-567)Ctg>Gtg	p.L189V	SLC12A1_ENST00000561031.1_Missense_Mutation_p.L189V|SLC12A1_ENST00000558405.1_Missense_Mutation_p.L189V|SLC12A1_ENST00000330289.6_Missense_Mutation_p.L189V|SLC12A1_ENST00000380993.3_Missense_Mutation_p.L189V	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	189					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.L189V(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAGATGCATGCTGAACATCTG	0.468000													58	32					0	0	0.003610	0	0
TRAV36DV7	28646	broad.mit.edu	37	14	22694669	22694669	+	RNA	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:22694669C>A	ENST00000390463.3	+	0	29																											GATGAAGTGTCCACAGGCTTT	0.433000													20	34					3.8784e-16	5.69957e-16	0.001882	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125405480	125405480	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:125405480C>A	ENST00000431078.1	+	13	2383	c.2019C>A	c.(2017-2019)caC>caA	p.H673Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	673	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.H673Q(1)		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)		GCTCTGAGCACTGTGAGCAGG	0.637000													5	11					0.000602214	0.000635097	0.000602	1	0
FAM188A	80013	broad.mit.edu	37	10	15883599	15883599	+	Splice_Site	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:15883599C>A	ENST00000277632.3	-	4	456		c.e4-1		FAM188A_ENST00000477891.1_Splice_Site	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A						apoptosis	nucleus	calcium ion binding	p.?(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGCTCTTCCTCTAAAAATAAC	0.338000													24	22					3.73808e-20	5.94575e-20	0.005443	1	0
GPR150	285601	broad.mit.edu	37	5	94956254	94956254	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:94956254C>T	ENST00000380007.2	+	1	473	c.275C>T	c.(274-276)gCg>gTg	p.A92V		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	92						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A92V(1)		lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		CTGGCCCTGGCGGACCTGTAC	0.746000													5	1					0	0	0.000602	0	0
HTR3E	285242	broad.mit.edu	37	3	183824008	183824008	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:183824008C>G	ENST00000415389.2	+	8	1484	c.1018C>G	c.(1018-1020)Ccc>Gcc	p.P340A	HTR3E_ENST00000436361.2_Missense_Mutation_p.P340A|HTR3E_ENST00000425359.2_Missense_Mutation_p.P325A|HTR3E_ENST00000335304.2_Missense_Mutation_p.P355A|HTR3E_ENST00000440596.2_Missense_Mutation_p.P366A	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	340						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.P355A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CACCACCCAGCCCCCACCCCT	0.662000													25	47					0	0	0.003954	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232568021	232568021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:232568021C>A	ENST00000366630.1	-	15	4586	c.4228G>T	c.(4228-4230)Gag>Tag	p.E1410*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.E1410*|SIPA1L2_ENST00000308942.4_Nonsense_Mutation_p.E484*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1410					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.E1410*(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCAGGCTCCTCGGGCGGTGGG	0.527000													11	19					3.27435e-08	3.82952e-08	0.002450	1	0
DSC1	1823	broad.mit.edu	37	18	28719723	28719723	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr18:28719723C>A	ENST00000257197.3	-	11	1912	c.1651G>T	c.(1651-1653)Gca>Tca	p.A551S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.A551S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	551	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.A551S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCATCCACTGCAACAACTGAA	0.313000													16	11					1.15088e-07	1.33906e-07	0.004007	1	0
DOCK11	139818	broad.mit.edu	37	X	117739208	117739208	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:117739208A>T	ENST00000276204.6	+	24	2644	c.2570A>T	c.(2569-2571)cAt>cTt	p.H857L	DOCK11_ENST00000276202.7_Missense_Mutation_p.H857L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	857	DHR-1.				blood coagulation	cytosol	GTP binding	p.H857L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TAGTGTTTGCATGCCATGGAG	0.318000													63	124					0	0	0.003610	0	0
CDV3	55573	broad.mit.edu	37	3	133293931	133293931	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:133293931G>A	ENST00000264993.3	+	2	604	c.289G>A	c.(289-291)Ggc>Agc	p.G97S	CDV3_ENST00000511392.1_5'UTR|CDV3_ENST00000515421.1_5'UTR|CDV3_ENST00000420115.2_5'UTR|CDV3_ENST00000431519.2_Missense_Mutation_p.G97S|CDV3_ENST00000508481.1_5'UTR	NM_001134422.1|NM_017548.4	NP_001127894.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	97					cell proliferation	cytoplasm		p.G97S(2)		kidney(3)|lung(1)|prostate(1)	5						TGATTACAGCGGCCTCAGGGT	0.363000													3	62					0	0	0.009096	0	0
TMEM132E	124842	broad.mit.edu	37	17	32963144	32963144	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:32963144G>T	ENST00000321639.5	+	9	2154	c.1826G>T	c.(1825-1827)cGg>cTg	p.R609L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	609						integral to membrane		p.R609L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTCTCCCTGCGGCCCAGCCCT	0.647000													10	20					0.00829132	0.00860972	0.008291	1	0
SEMA3C	10512	broad.mit.edu	37	7	80374574	80374574	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:80374574C>A	ENST00000265361.3	-	18	2453	c.1892G>T	c.(1891-1893)cGc>cTc	p.R631L	SEMA3C_ENST00000419255.2_Missense_Mutation_p.R631L|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R649L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	631	Ig-like C2-type.				immune response|response to drug	membrane	receptor activity	p.R631L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTGAACAGAGCGGATCAGGAG	0.373000													27	38					1.39806e-14	1.98131e-14	0.008361	1	0
DNMBP	23268	broad.mit.edu	37	10	101639582	101639582	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:101639582C>A	ENST00000342239.3	-	16	4697	c.4606G>T	c.(4606-4608)Gca>Tca	p.A1536S	DNMBP_ENST00000540316.1_Missense_Mutation_p.A448S|DNMBP_ENST00000543621.1_Missense_Mutation_p.A758S|DNMBP_ENST00000324109.4_Missense_Mutation_p.A1512S			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1512	SH3 6.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	p.A1512S(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTGCCTTCTGCCTCACTGCCA	0.582000													21	46					7.41877e-09	8.84577e-09	0.001882	1	0
CLCA4	22802	broad.mit.edu	37	1	87045876	87045876	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:87045876G>T	ENST00000370563.3	+	14	2650	c.2608G>T	c.(2608-2610)Gca>Tca	p.A870S	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	870						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.A870S(1)		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)		TATCCCTCAAGCAAATCCTGA	0.348000													20	27					8.28177e-16	1.20917e-15	0.007413	1	0
OR13H1	347468	broad.mit.edu	37	X	130678719	130678719	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:130678719C>A	ENST00000338616.3	+	1	770	c.672C>A	c.(670-672)atC>atA	p.I224I		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I224I(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CTATGGCTATCATAAGGATTC	0.488000													93	167					6.09681e-45	1.1742e-44	0.003610	1	0
PCDHB13	56123	broad.mit.edu	37	5	140595649	140595649	+	Missense_Mutation	SNP	C	C	T	rs141899378		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:140595649C>T	ENST00000341948.4	+	1	2141	c.1954C>T	c.(1954-1956)Cgc>Tgc	p.R652C		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		652	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.R652C(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCCTCCGCGCTCGGCCAC	0.721000													42	14					0	0	0.003610	0	0
ANKRD1	27063	broad.mit.edu	37	10	92677489	92677489	+	Splice_Site	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:92677489C>G	ENST00000371697.3	-	5	800	c.552_splice	c.e5+1	p.M184_splice		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	184					cellular lipid metabolic process|defense response|signal transduction		DNA binding	p.M184I(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				ATATATTTACCATATCACGGA	0.408000													21	38					0	0	0.001882	0	0
SDAD1	55153	broad.mit.edu	37	4	76882214	76882214	+	Silent	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:76882214T>C	ENST00000356260.5	-	16	1441	c.1323A>G	c.(1321-1323)acA>acG	p.T441T	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Silent_p.T404T	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	441					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	p.T441T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGGATTCAGTGTTCGGAAGA	0.368000													58	137					0	0	0.003610	0	0
GSTA4	2941	broad.mit.edu	37	6	52852158	52852158	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:52852158C>A	ENST00000370959.1	-	3	253	c.136G>T	c.(136-138)Gat>Tat	p.D46Y	GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000370960.1_Intron|GSTA4_ENST00000541324.1_Intron			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	46	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	p.D46Y(1)		endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TACTCACCATCCTGCAACTTG	0.323000													77	219					1.20873e-29	2.13901e-29	0.003610	1	0
ZNF423	23090	broad.mit.edu	37	16	49557649	49557649	+	Splice_Site	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr16:49557649G>T	ENST00000561648.1	-	7	3764	c.3709_splice	c.e7-1	p.V1237_splice	ZNF423_ENST00000563137.2_Splice_Site_p.V1177_splice|ZNF423_ENST00000562871.1_Splice_Site_p.V1177_splice|ZNF423_ENST00000567169.1_Splice_Site_p.V1120_splice|ZNF423_ENST00000535559.1_Splice_Site_p.V1120_splice|ZNF423_ENST00000562520.1_Splice_Site_p.V1177_splice|ZNF423_ENST00000262383.2_Splice_Site_p.V1237_splice	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1237					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.V1237V(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCTGGACGAAGACTAGACACA	0.597000													22	4					1.96292e-10	2.44822e-10	0.010504	1	0
CYBB	1536	broad.mit.edu	37	X	37658310	37658310	+	Silent	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:37658310C>T	ENST00000378588.4	+	7	844	c.777C>T	c.(775-777)atC>atT	p.I259I	CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Silent_p.I227I|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	259	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	p.I259I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						AATGCCCAATCCCTCAGTTTG	0.383000													19	15					0	0	0.001882	0	0
MUC17	140453	broad.mit.edu	37	7	100684439	100684439	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:100684439G>T	ENST00000306151.4	+	3	9806	c.9742G>T	c.(9742-9744)Gac>Tac	p.D3248Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3248	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.D3248Y(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGTTGACTCCAACAC	0.502000													129	209					7.7863e-71	1.55267e-70	0.003610	1	0
SYP	6855	broad.mit.edu	37	X	49048117	49048117	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:49048117G>T	ENST00000263233.4	-	6	791	c.719C>A	c.(718-720)cCc>cAc	p.P240H	SYP_ENST00000479808.1_Missense_Mutation_p.P240H|SYP_ENST00000538567.1_Missense_Mutation_p.P122H	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	240					regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	p.P240H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				TTGTTTCTCGGGGGCGCCGGG	0.711000													9	6					0.000442599	0.000469697	0.006214	1	0
PLAGL2	5326	broad.mit.edu	37	20	30785030	30785030	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:30785030T>C	ENST00000246229.4	-	3	980	c.716A>G	c.(715-717)aAg>aGg	p.K239R		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	239						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K239R(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGGCTCTTCTTGACATGACG	0.582000													17	9					0	0	0.006122	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045608	142045608	+	RNA	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:142045608C>A	ENST00000390392.3	+	0	247																											TGAACAACATCTGGGGCATAA	0.448000													61	179					1.88225e-35	3.5443e-35	0.003610	1	0
NKAIN3	286183	broad.mit.edu	37	8	63502281	63502281	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:63502281G>T	ENST00000523211.1	+	3	333	c.201G>T	c.(199-201)gtG>gtT	p.V67V	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Silent_p.V67V	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	67						integral to membrane|plasma membrane		p.V67V(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				AGTATACAGTGTGGACTGCCC	0.363000													13	22					2.61681e-11	3.34398e-11	0.002450	1	0
KDR	3791	broad.mit.edu	37	4	55971027	55971027	+	Silent	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:55971027A>T	ENST00000263923.4	-	13	2065	c.1770T>A	c.(1768-1770)ccT>ccA	p.P590P		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	590	Ig-like C2-type 6.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.P590P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGATTGGCAGAGGCTGTGGGC	0.493000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			43	42					0	0	0.009718	0	0
IGSF1	3547	broad.mit.edu	37	X	130411007	130411007	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:130411007C>A	ENST00000370904.1	-	20	3397	c.2487G>T	c.(2485-2487)tcG>tcT	p.S829S	IGSF1_ENST00000370903.3_Silent_p.S843S|IGSF1_ENST00000370910.1_Silent_p.S829S|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000361420.3_Silent_p.S838S			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	838	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.S838S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAATGCCCACCGAAATGATTA	0.493000													176	299					2.46074e-80	4.93608e-80	0.003610	1	0
SYMPK	8189	broad.mit.edu	37	19	46330801	46330801	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:46330801G>A	ENST00000245934.7	-	16	2392	c.2148C>T	c.(2146-2148)gtC>gtT	p.V716V		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	716					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.V716V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGTCGAGGAGGACATGCAGGT	0.592000													6	20					0	0	0.001168	0	0
BCL11B	64919	broad.mit.edu	37	14	99724153	99724153	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:99724153C>A	ENST00000345514.2	-	2	348	c.82G>T	c.(82-84)Gcc>Tcc	p.A28S	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Missense_Mutation_p.A28S	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	0						nucleus	zinc ion binding	p.A28S(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TCGAGGATGGCGGCCTCCACA	0.607000			T	TLX3	T-ALL								12	9					6.40141e-05	6.87974e-05	0.000978	1	0
PTPRD	5789	broad.mit.edu	37	9	8340348	8340348	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr9:8340348C>A	ENST00000381196.4	-	39	5791	c.5248G>T	c.(5248-5250)Ggc>Tgc	p.G1750C	PTPRD_ENST00000356435.5_Missense_Mutation_p.G1750C|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1344C|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1343C|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1340C|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1343C|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1737C|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1750C|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1340C|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1728C|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1343C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1750	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.M1749_G1750>IC(2)|p.M1343_G1344>IC(1)|p.M1220_G1221>IC(1)		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)		CTTACTCTGCCCATTTCACGC	0.468000										TSP Lung(15;0.13)			48	36					1.19451e-25	2.03912e-25	0.003610	1	0
ZNF236	7776	broad.mit.edu	37	18	74627621	74627621	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr18:74627621G>A	ENST00000253159.8	+	19	3272	c.3074G>A	c.(3073-3075)tGc>tAc	p.C1025Y	ZNF236_ENST00000320610.9_Missense_Mutation_p.C1027Y	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1025					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C1025Y(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCGTTCAGCTGCAGTGTGTGC	0.478000													15	26					0	0	0.003163	0	0
DSG3	1830	broad.mit.edu	37	18	29054364	29054364	+	Silent	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr18:29054364T>A	ENST00000257189.4	+	15	2465	c.2382T>A	c.(2380-2382)tcT>tcA	p.S794S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	794					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.S794S(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTACTTTTCTCAGGTAATTT	0.368000													52	34					0	0	0.003610	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854358	12854358	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:12854358T>A	ENST00000332296.7	+	3	685	c.582T>A	c.(580-582)taT>taA	p.Y194*		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	194								p.Y194*(2)		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)		CGATTAAATATCTCAGAAAGT	0.403000													82	328					0	0	0.003610	0	0
LILRA2	11027	broad.mit.edu	37	19	55085876	55085876	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:55085876T>A	ENST00000251377.3	+	4	312	c.179T>A	c.(178-180)cTa>cAa	p.L60Q	LILRA2_ENST00000391738.3_Missense_Mutation_p.L60Q|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.L60Q|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.L48Q					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.L60Q(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGTACCATCTATATAGGGAA	0.567000													32	16					0	0	0.002096	0	0
DOCK11	139818	broad.mit.edu	37	X	117770346	117770346	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:117770346G>T	ENST00000276204.6	+	36	3998	c.3924G>T	c.(3922-3924)caG>caT	p.Q1308H	DOCK11_ENST00000276202.7_Missense_Mutation_p.Q1308H			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1308					blood coagulation	cytosol	GTP binding	p.Q1308H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATCACCTCAGGAGCTCATAA	0.289000													14	43					2.32078e-09	2.82676e-09	0.003163	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563269	140563269	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:140563269G>T	ENST00000361016.2	+	1	2290	c.1135G>T	c.(1135-1137)Ggg>Tgg	p.G379W		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		379	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.G379W(1)|p.K380fs*14(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAAACAATGGGAAGACGAT	0.488000													46	18					3.68427e-32	6.71311e-32	0.002522	1	0
PXDNL	137902	broad.mit.edu	37	8	52366224	52366224	+	Silent	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:52366224T>A	ENST00000356297.4	-	10	1204	c.1104A>T	c.(1102-1104)ggA>ggT	p.G368G	PXDNL_ENST00000543296.1_Silent_p.G368G	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	368	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.G368G(1)		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)				CCAGCTCCAATCCATTGTCCC	0.507000													20	43					0	0	0.008871	0	0
OR5H14	403273	broad.mit.edu	37	3	97868309	97868309	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:97868309T>A	ENST00000437310.1	+	1	140	c.80T>A	c.(79-81)cTg>cAg	p.L27Q		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L27Q(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAAATACCCCTGTTCCTGGCA	0.423000													108	51					0	0	0.003610	0	0
SAMD3	154075	broad.mit.edu	37	6	130535490	130535490	+	Silent	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:130535490T>A	ENST00000532763.1	-	3	390	c.261A>T	c.(259-261)gcA>gcT	p.A87A	SAMD3_ENST00000368134.2_Silent_p.A87A|SAMD3_ENST00000457563.2_Silent_p.A111A|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Silent_p.A87A|SAMD3_ENST00000324172.6_Silent_p.A87A|SAMD3_ENST00000437477.2_Silent_p.A87A			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	87								p.A87A(1)		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)		ACTCTCGAGCTGCTTCTGTTT	0.423000													36	74					0	0	0.007835	0	0
DCHS1	8642	broad.mit.edu	37	11	6655050	6655050	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:6655050G>T	ENST00000299441.3	-	4	2599	c.2188C>A	c.(2188-2190)Ccc>Acc	p.P730T	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	730	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P730T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAGTGGGGGGCTGTTGCCA	0.607000													41	23					1.15505e-17	1.739e-17	0.009718	1	0
APOB	338	broad.mit.edu	37	2	21251398	21251398	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:21251398G>T	ENST00000233242.1	-	13	1757	c.1630C>A	c.(1630-1632)Ctt>Att	p.L544I	APOB_ENST00000399256.4_Missense_Mutation_p.L544I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	544	Vitellogenin.				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	p.L544I(1)		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)	GTCTGAAGAAGAACCTCCTGG	0.468000													46	59					1.15505e-17	1.739e-17	0.009718	1	0
KIAA1549	57670	broad.mit.edu	37	7	138604108	138604108	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:138604108G>T	ENST00000440172.1	-	2	312	c.264C>A	c.(262-264)agC>agA	p.S88R	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S38R|KIAA1549_ENST00000422774.1_Missense_Mutation_p.S88R	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	88						integral to membrane		p.S38R(1)|p.S88R(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTTGTGCAGCGCTGTGCCCAG	0.532000			O	BRAF	pilocytic astrocytoma								21	40					4.63292e-17	6.92888e-17	0.008871	1	0
EHD3	30845	broad.mit.edu	37	2	31483646	31483646	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:31483646G>T	ENST00000322054.5	+	4	1058	c.773G>T	c.(772-774)tGg>tTg	p.W258L	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	258					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	p.W258L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGCTCCTTCTGGTCCCACCCC	0.602000													35	53					4.14481e-20	6.57721e-20	0.006230	1	0
ZP4	57829	broad.mit.edu	37	1	238048734	238048734	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:238048734T>G	ENST00000366570.4	-	8	1275	c.1117A>C	c.(1117-1119)Act>Cct	p.T373P	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	373	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.T373P(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGGGTCAGTGCTGGGTGTT	0.537000													29	56					0	0	0.009535	0	0
ZNF454	285676	broad.mit.edu	37	5	178392950	178392950	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:178392950G>A	ENST00000320129.3	+	5	1848	c.1545G>A	c.(1543-1545)caG>caA	p.Q515Q	ZNF454_ENST00000519564.1_Silent_p.Q515Q	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q515Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TTCAGCATCAGAGACATCATA	0.383000													45	100					0	0	0.003610	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116070142	116070142	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:116070142G>T	ENST00000369271.3	-	8	1153	c.853C>A	c.(853-855)Ccg>Acg	p.P285T	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.P338T|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.P285T	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	285					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	p.P285T(1)|p.P303T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGGGCATCCGGGGTGTACTGG	0.537000													22	35					3.6726e-16	5.40889e-16	0.003954	1	0
RB1CC1	9821	broad.mit.edu	37	8	53573726	53573726	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:53573726C>T	ENST00000025008.5	-	10	1997	c.1474G>A	c.(1474-1476)Gtt>Att	p.V492I	RB1CC1_ENST00000539297.1_Missense_Mutation_p.V492I|RB1CC1_ENST00000435644.2_Missense_Mutation_p.V492I|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	492					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	p.V492I(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATCTGAGGAACTGTACTAAGA	0.378000													47	94					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	216262461	216262461	+	Silent	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:216262461A>G	ENST00000366943.2	-	23	5165	c.4779T>C	c.(4777-4779)acT>acC	p.T1593T	USH2A_ENST00000307340.3_Silent_p.T1593T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1593	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T1593T(1)		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)		CATTAGTTGTAGTTACTTCCA	0.333000										HNSCC(13;0.011)			50	72					0	0	0.003610	0	0
OR4P4	81300	broad.mit.edu	37	11	55406611	55406611	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:55406611G>C	ENST00000314612.2	+	1	778	c.778G>C	c.(778-780)Gtc>Ctc	p.V260L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V260L(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CATTAGACCGGTCACAACATT	0.418000													26	42					0	0	0.005443	0	0
TRIM48	79097	broad.mit.edu	37	11	55033171	55033171	+	Splice_Site	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:55033171G>C	ENST00000417545.2	+	3	641	c.555_splice	c.e3+1	p.K185_splice		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	169						intracellular	zinc ion binding	p.K169N(1)|p.K185N(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCCACTGGAAGGTTAGTCCTG	0.413000													10	19					0	0	0.001368	0	0
CCDC39	339829	broad.mit.edu	37	3	180381658	180381658	+	Silent	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:180381658T>A	ENST00000273654.4	-	8	1078	c.459A>T	c.(457-459)acA>acT	p.T153T	CCDC39_ENST00000442201.2_Silent_p.T69T			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	69					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.T69T(1)|p.T153T(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	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)			ACTGTACCTGTGTAATTGAGA	0.338000													19	59					0	0	0.007413	0	0
TARS2	80222	broad.mit.edu	37	1	150463952	150463952	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:150463952G>A	ENST00000369064.3	+	5	629	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TARS2_ENST00000606933.1_Missense_Mutation_p.E199K|TARS2_ENST00000438568.2_Missense_Mutation_p.R157K|TARS2_ENST00000369054.2_Missense_Mutation_p.E199K	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	199					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.E199K(2)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCGGAGGCTAGAGGCTTCACG	0.532000													33	71					0	0	0.003271	0	0
DOCK11	139818	broad.mit.edu	37	X	117782933	117782933	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:117782933G>T	ENST00000276204.6	+	41	4498	c.4424G>T	c.(4423-4425)aGa>aTa	p.R1475I	DOCK11_ENST00000276202.7_Missense_Mutation_p.R1475I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1475					blood coagulation	cytosol	GTP binding	p.R1475I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTCAAAGGAAGAGTAAACATG	0.343000													61	76					1.08141e-31	1.95987e-31	0.003610	1	0
SPIB	6689	broad.mit.edu	37	19	50926091	50926091	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:50926091G>T	ENST00000595883.1	+	4	161	c.136G>T	c.(136-138)Gac>Tac	p.D46Y	SPIB_ENST00000596074.1_Intron|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000597855.1_Missense_Mutation_p.D46Y|SPIB_ENST00000270632.7_Missense_Mutation_p.D46Y	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	46	TAD2.				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	p.D46Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTCCCTGTGGGACTGGACTGT	0.647000													27	22					5.77227e-19	8.94967e-19	0.008361	1	0
MYPN	84665	broad.mit.edu	37	10	69881655	69881655	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:69881655G>C	ENST00000358913.5	+	2	948	c.460G>C	c.(460-462)Gct>Cct	p.A154P	MYPN_ENST00000540630.1_Missense_Mutation_p.A154P|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.A154P	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	154	Interaction with CARP.					nucleus|sarcomere	actin binding	p.A154P(1)		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						TTTAAATAAGGCTGCCGACTT	0.448000													17	38					0	0	0.008871	0	0
ZIK1	284307	broad.mit.edu	37	19	58099970	58099970	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:58099970G>A	ENST00000597850.1	+	3	351	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ZIK1_ENST00000307468.4_Intron|ZIK1_ENST00000536878.2_Missense_Mutation_p.E33K|ZIK1_ENST00000598726.1_3'UTR|ZIK1_ENST00000599456.1_5'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E46K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACTTCTTGATGAGGCTCAGAG	0.522000													21	44					0	0	0.001882	0	0
EHF	26298	broad.mit.edu	37	11	34664191	34664191	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:34664191G>C	ENST00000257831.3	+	2	135	c.14G>C	c.(13-15)gGa>gCa	p.G5A	EHF_ENST00000450654.2_Missense_Mutation_p.G5A|EHF_ENST00000531728.1_Missense_Mutation_p.G5A|EHF_ENST00000527001.1_3'UTR|EHF_ENST00000533754.1_Missense_Mutation_p.G5A|EHF_ENST00000531794.1_Missense_Mutation_p.G27A|EHF_ENST00000527935.1_Missense_Mutation_p.G5A|EHF_ENST00000530286.1_Missense_Mutation_p.G5A	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	5					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G5A(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			ATTCTGGAAGGAGGTGGTGTA	0.507000													8	4					0	0	0.004482	0	0
MERTK	10461	broad.mit.edu	37	2	112786078	112786078	+	Silent	SNP	G	G	A	rs139897984		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:112786078G>A	ENST00000295408.4	+	19	2894	c.2637G>A	c.(2635-2637)gaG>gaA	p.E879E	MERTK_ENST00000409780.1_Silent_p.E703E|MERTK_ENST00000421804.2_Silent_p.E879E			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	879					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E879E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGTTGCTGGAGAGCTCTGAGG	0.522000													4	98					0	0	0.000602	0	0
PTPRC	5788	broad.mit.edu	37	1	198703333	198703333	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:198703333A>T	ENST00000367376.2	+	21	2316	c.2145A>T	c.(2143-2145)aaA>aaT	p.K715N	PTPRC_ENST00000594404.1_Missense_Mutation_p.K554N|PTPRC_ENST00000442510.2_Missense_Mutation_p.K717N|PTPRC_ENST00000352140.3_Missense_Mutation_p.K667N|PTPRC_ENST00000348564.6_Missense_Mutation_p.K556N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	715	Tyrosine-protein phosphatase 1.				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.K715N(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						AGGGTTTCAAAGAACCCAGGA	0.294000													32	47					0	0	0.003755	0	0
PAK3	5063	broad.mit.edu	37	X	110435808	110435808	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:110435808G>T	ENST00000519681.1	+	14	1459	c.1017G>T	c.(1015-1017)agG>agT	p.R339S	PAK3_ENST00000262836.4_Missense_Mutation_p.R333S|PAK3_ENST00000518291.1_Missense_Mutation_p.R354S|PAK3_ENST00000446737.1_Missense_Mutation_p.R318S|PAK3_ENST00000425146.1_Missense_Mutation_p.R318S|PAK3_ENST00000372007.4_Missense_Mutation_p.R318S|PAK3_ENST00000372010.1_Missense_Mutation_p.R333S|PAK3_ENST00000417227.1_Missense_Mutation_p.R339S|PAK3_ENST00000360648.4_Missense_Mutation_p.R354S			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	333	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.R354S(1)|p.R318S(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TGGTCATGAGGGAAAATAAGA	0.308000										TSP Lung(19;0.15)			18	48					0.000958276	0.00100589	0.007413	1	0
KNDC1	85442	broad.mit.edu	37	10	135012623	135012623	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:135012623G>A	ENST00000304613.3	+	14	2632	c.2611G>A	c.(2611-2613)Gac>Aac	p.D871N	KNDC1_ENST00000368571.2_Missense_Mutation_p.D806N|KNDC1_ENST00000368572.2_Missense_Mutation_p.D871N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	871	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.D871N(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCGGCCCGCAGACCGGAGGCT	0.721000													6	9					0	0	0.001984	0	0
PRKCB	5579	broad.mit.edu	37	16	24231390	24231390	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr16:24231390G>T	ENST00000321728.7	+	17	2147	c.1972G>T	c.(1972-1974)Gct>Tct	p.A658S	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	658	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.A658S(1)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AAATGAATTTGCTGGCTTCTC	0.453000													25	65					1.85244e-09	2.26447e-09	0.003330	1	0
ACSS1	84532	broad.mit.edu	37	20	25003719	25003719	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:25003719T>A	ENST00000537502.1	-	3	2099	c.568A>T	c.(568-570)Aag>Tag	p.K190*	ACSS1_ENST00000432802.2_Nonsense_Mutation_p.K273*|ACSS1_ENST00000323482.4_Nonsense_Mutation_p.K273*|ACSS1_ENST00000542618.1_Nonsense_Mutation_p.K152*			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	273					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	p.K273*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGTCCTCCTTGGCCATTTCC	0.607000													8	8					0	0	0.004482	0	0
MLEC	9761	broad.mit.edu	37	12	121132798	121132798	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:121132798G>T	ENST00000228506.3	+	3	1014	c.586G>T	c.(586-588)Gtc>Ttc	p.V196F	MLEC_ENST00000412616.2_Intron	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	196					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.V196F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CATTGAGTTTGTCAAGGTAAT	0.493000													74	126					3.05759e-45	5.90551e-45	0.003610	1	0
HAS2	3037	broad.mit.edu	37	8	122626456	122626456	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:122626456G>A	ENST00000303924.4	-	4	2089	c.1552C>T	c.(1552-1554)Ctc>Ttc	p.L518F		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	518						integral to plasma membrane	hyaluronan synthase activity	p.L518F(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CATGCATAGAGCAACGTTCCA	0.418000													60	47					0	0	0.003610	0	0
LGR6	59352	broad.mit.edu	37	1	202287530	202287530	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:202287530C>G	ENST00000367278.3	+	18	2188	c.2099C>G	c.(2098-2100)gCc>gGc	p.A700G	LGR6_ENST00000255432.7_Missense_Mutation_p.A648G|LGR6_ENST00000439764.2_Missense_Mutation_p.A561G	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	700						integral to membrane|plasma membrane	protein-hormone receptor activity	p.A700G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCAGGGCTGGCCGCCGCGCTG	0.706000													5	12					0	0	0.001168	0	0
BLK	640	broad.mit.edu	37	8	11420536	11420536	+	Missense_Mutation	SNP	G	G	T	rs149924770		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:11420536G>T	ENST00000259089.4	+	12	1821	c.1229G>T	c.(1228-1230)gGg>gTg	p.G410V	BLK_ENST00000529894.1_Missense_Mutation_p.G339V	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	410	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.G410V(1)		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)		ATCCACTTCGGGGTCTTCACC	0.607000													13	12					2.27111e-07	2.62439e-07	0.001368	1	0
BAI2	576	broad.mit.edu	37	1	32193111	32193111	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:32193111G>T	ENST00000373658.3	-	33	5009	c.4668C>A	c.(4666-4668)ccC>ccA	p.P1556P	BAI2_ENST00000398542.1_Silent_p.P1437P|BAI2_ENST00000257070.4_Silent_p.P1522P|BAI2_ENST00000398556.3_Silent_p.P1471P|BAI2_ENST00000373655.2_Silent_p.P1555P|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Silent_p.P1146P|BAI2_ENST00000398538.1_Silent_p.P1525P|BAI2_ENST00000527361.1_Silent_p.P1522P|BAI2_ENST00000398547.1_Silent_p.P1470P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1556					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1556P(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGGGCTTGGGGGGCAGCGAGC	0.637000													9	15					0.000442599	0.000469697	0.006214	1	0
NPAP1	23742	broad.mit.edu	37	15	24923236	24923236	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr15:24923236C>A	ENST00000329468.2	+	1	2696	c.2222C>A	c.(2221-2223)tCa>tAa	p.S741*		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S741*(1)									AACACTGCCTCAGTCCAAGGC	0.542000													94	32					4.85238e-36	9.18826e-36	0.003610	1	0
RPE65	6121	broad.mit.edu	37	1	68904918	68904918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:68904918C>A	ENST00000262340.5	-	8	867	c.814G>T	c.(814-816)Gga>Tga	p.G272*		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	272					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.G272*(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TAGTTGGCTCCCCAAAGACTC	0.378000													31	27					6.00712e-18	9.10497e-18	0.002445	1	0
DHCR7	1717	broad.mit.edu	37	11	71146760	71146760	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:71146760G>A	ENST00000355527.3	-	9	1365	c.1089C>T	c.(1087-1089)cgC>cgT	p.R363R	DHCR7_ENST00000407721.2_Silent_p.R363R	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	363					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.R363R(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GCCCATCCGTGCGGCGGAACA	0.657000									Smith-Lemli-Opitz syndrome				13	20					0	0	0.001855	0	0
DSG1	1828	broad.mit.edu	37	18	28913555	28913555	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr18:28913555T>C	ENST00000257192.4	+	7	900	c.688T>C	c.(688-690)Tac>Cac	p.Y230H		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	230	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.Y230H(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTTTTAGCAATACGGCCAGTA	0.423000													32	23					0	0	0.003755	0	0
CYTH2	9266	broad.mit.edu	37	19	48981804	48981804	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:48981804C>T	ENST00000427476.1	+	11	1370	c.1070C>T	c.(1069-1071)tCg>tTg	p.S357L	CYTH2_ENST00000452733.2_Missense_Mutation_p.S356L	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	357	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.S357L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TACCGGATCTCGGCCCCCACG	0.612000													9	12					0	0	0.006214	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704209	47704209	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr21:47704209C>T	ENST00000397708.1	-	2	1246	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R331Q			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	331					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.R331Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCCCGGGGTCGATTCAGGCG	0.537000													24	135					0	0	0.003954	0	0
KMT2C	58508	broad.mit.edu	37	7	151962241	151962241	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:151962241G>T	ENST00000355193.2	-	8	1284	c.1066C>A	c.(1066-1068)Cag>Aag	p.Q356K	KMT2C_ENST00000262189.6_Missense_Mutation_p.Q356K					lysine (K)-specific methyltransferase 2C									p.Q356K(4)									CAAAAGAACTGATCTAAGAGG	0.413000													15	356					6.33239e-15	9.08852e-15	0.010504	1	0
BTBD11	121551	broad.mit.edu	37	12	108008883	108008883	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:108008883C>G	ENST00000280758.5	+	7	2473	c.1945C>G	c.(1945-1947)Cgc>Ggc	p.R649G	BTBD11_ENST00000357167.4_Missense_Mutation_p.R186G|BTBD11_ENST00000490090.2_Missense_Mutation_p.R649G|BTBD11_ENST00000420571.2_Missense_Mutation_p.R649G|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	649						integral to membrane	DNA binding	p.R649G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCCCGAGACCCGCCATTGGAC	0.408000													15	34					0	0	0.008871	0	0
MYLIP	29116	broad.mit.edu	37	6	16130898	16130898	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:16130898G>T	ENST00000356840.3	+	2	396	c.198G>T	c.(196-198)atG>atT	p.M66I	MYLIP_ENST00000349606.4_Intron	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	66	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.M66I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CCCAGCAGATGGATGGGCTAG	0.443000													60	44					7.92265e-33	1.45932e-32	0.003610	1	0
RGPD4	285190	broad.mit.edu	37	2	108496518	108496518	+	Silent	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:108496518T>A	ENST00000408999.3	+	21	5096	c.5019T>A	c.(5017-5019)ctT>ctA	p.L1673L	RGPD4_ENST00000354986.4_Silent_p.L1673L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1673					intracellular transport		binding	p.L1673L(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACGGCCTGCTTCGGGAAGCAG	0.463000													70	142					0	0	0.003610	0	0
WDR17	116966	broad.mit.edu	37	4	177063217	177063217	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:177063217A>G	ENST00000393643.2	+	11	1778	c.1526A>G	c.(1525-1527)aAt>aGt	p.N509S	WDR17_ENST00000508596.1_Missense_Mutation_p.N509S|WDR17_ENST00000507824.2_Missense_Mutation_p.N516S|WDR17_ENST00000280190.4_Missense_Mutation_p.N533S	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	533								p.N533S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGCCAAAACAATAAGTAAGTG	0.274000													47	92					0	0	0.003610	0	0
TMCO2	127391	broad.mit.edu	37	1	40717240	40717240	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:40717240A>G	ENST00000372766.3	+	2	616	c.523A>G	c.(523-525)Aca>Gca	p.T175A	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	175						integral to membrane		p.T175A(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCCCTTGTCCACATCAGGGTT	0.478000													17	32					0	0	0.008871	0	0
DCHS2	54798	broad.mit.edu	37	4	155219046	155219046	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:155219046G>T	ENST00000357232.3	-	18	5054	c.5055C>A	c.(5053-5055)agC>agA	p.S1685R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1685	Cadherin 14.|Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S1685R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAGGTGGTGGCTGAAGGAAA	0.443000													26	55					5.35047e-06	5.99821e-06	0.003330	1	0
THBS3	7059	broad.mit.edu	37	1	155167905	155167905	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:155167905C>A	ENST00000368378.3	-	18	2201	c.2181G>T	c.(2179-2181)cgG>cgT	p.R727R	THBS3_ENST00000457183.2_Silent_p.R607R|THBS3_ENST00000428962.2_3'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000541990.1_Silent_p.R256R|THBS3_ENST00000541576.1_Silent_p.R124R	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	727	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	p.R727R(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTGATAGGCCCGAAAATCCG	0.552000													22	36					3.62473e-10	4.50426e-10	0.001882	1	0
CALCA	796	broad.mit.edu	37	11	14991586	14991586	+	Missense_Mutation	SNP	G	G	C	rs147263808	byFrequency	TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:14991586G>C	ENST00000361010.3	-	3	196	c.122C>G	c.(121-123)aCg>aGg	p.T41R	CALCB_ENST00000523376.1_Intron|CALCA_ENST00000331587.4_Missense_Mutation_p.T41R|CALCA_ENST00000359642.3_Missense_Mutation_p.T41R|CALCA_ENST00000396372.2_Missense_Mutation_p.T41R|CALCA_ENST00000486207.1_Missense_Mutation_p.T41R	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	41					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity	p.T41R(2)		central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	CTCACTGAGCGTGGCCGGGTC	0.637000											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	8					0	0	0.001368	0	0
EXTL1	2134	broad.mit.edu	37	1	26356998	26356998	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:26356998C>A	ENST00000374280.3	+	4	1880	c.1013C>A	c.(1012-1014)gCa>gAa	p.A338E	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	338					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	p.A338E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTCCCCTGCACGGGTCCTC	0.582000													19	57					3.99206e-14	5.57568e-14	0.007413	1	0
HNF4A	3172	broad.mit.edu	37	20	43042431	43042431	+	Silent	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:43042431G>C	ENST00000316099.3	+	4	572	c.483G>C	c.(481-483)ctG>ctC	p.L161L	HNF4A_ENST00000457232.1_Silent_p.L139L|HNF4A_ENST00000415691.1_Silent_p.L161L|HNF4A_ENST00000443598.2_Silent_p.L161L	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	161					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	p.L161L(2)|p.L139L(1)		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)			CGGAGGTCCTGTCCCGACAGG	0.642000													4	10					0	0	0.009096	0	0
AGAP1	116987	broad.mit.edu	37	2	236706531	236706531	+	Splice_Site	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:236706531G>T	ENST00000409538.1	+	7	2092		c.e7+1		AGAP1_ENST00000304032.7_Splice_Site|AGAP1_ENST00000336665.5_Splice_Site|AGAP1_ENST00000409457.1_Splice_Site|AGAP1_ENST00000428334.2_Splice_Site			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1						protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.?(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATCAGCCAGGTACGTTAGGT	0.478000													91	58					1.59803e-59	3.14031e-59	0.003610	1	0
OPN1SW	611	broad.mit.edu	37	7	128413885	128413885	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:128413885G>T	ENST00000249389.2	-	4	744	c.745C>A	c.(745-747)Cgc>Agc	p.R249S		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	249					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	p.R249S(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ACCACCATGCGGCTCACCTCC	0.567000													19	25					2.4624e-09	2.97778e-09	0.008871	1	0
UTP14A	10813	broad.mit.edu	37	X	129063440	129063440	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:129063440G>A	ENST00000394422.3	+	15	2200	c.2172G>A	c.(2170-2172)aaG>aaA	p.K724K	UTP14A_ENST00000425117.2_Silent_p.K672K|UTP14A_ENST00000371051.5_Silent_p.K670K|UTP14A_ENST00000371042.3_Silent_p.K556K|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	724					rRNA processing	nucleolus|small-subunit processome	protein binding	p.K724K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TCGTCACCAAGCCAGGCCATA	0.502000													31	58					0	0	0.002096	0	0
ABHD5	51099	broad.mit.edu	37	3	43743798	43743798	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:43743798G>A	ENST00000458276.2	+	3	348	c.225G>A	c.(223-225)aaG>aaA	p.K75K		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	75					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity	p.K75K(1)		kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TTTCAAATAAGACTCCACTTG	0.398000													62	49					0	0	0.003610	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884537	24884537	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:24884537C>A	ENST00000382554.3	+	9	3900	c.3582C>A	c.(3580-3582)ctC>ctA	p.L1194L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1194					DNA integration	integral to membrane	DNA binding	p.L1194L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AACCCCTCCTCCCTGATGAGG	0.637000													71	122					3.27973e-32	6.00839e-32	0.003610	1	0
SOGA1	140710	broad.mit.edu	37	20	35467806	35467806	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:35467806C>A	ENST00000237536.4	-	2	1067	c.726G>T	c.(724-726)atG>atT	p.M242I	SOGA1_ENST00000357779.3_Missense_Mutation_p.M4I|SOGA1_ENST00000279034.5_Missense_Mutation_p.M4I	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	4								p.M242I(3)|p.M4I(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						AGACGTCCCGCATCTCCAGCA	0.627000													12	39					0.000219431	0.000233968	0.002450	1	0
UGT2A3	79799	broad.mit.edu	37	4	69811094	69811094	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:69811094G>T	ENST00000251566.4	-	2	824	c.794C>A	c.(793-795)cCt>cAt	p.P265H	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	265						integral to membrane	glucuronosyltransferase activity	p.P265H(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTATGGTTGAGGAAATTCAAA	0.373000													39	55					8.16277e-20	1.28626e-19	0.006999	1	0
PLXNB3	5365	broad.mit.edu	37	X	153035264	153035264	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:153035264G>T	ENST00000538966.1	+	8	1839	c.1568G>T	c.(1567-1569)tGt>tTt	p.C523F	PLXNB3_ENST00000361971.5_Missense_Mutation_p.C500F|PLXNB3_ENST00000538776.1_Missense_Mutation_p.C153F|PLXNB3_ENST00000538543.1_Missense_Mutation_p.C50F|PLXNB3_ENST00000538282.1_Missense_Mutation_p.C110F	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	500					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	p.C500F(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGCAGGTGTACCCGGAAG	0.672000													5	23					3.59834e-05	3.90445e-05	0.001168	1	0
FLT1	2321	broad.mit.edu	37	13	29008057	29008057	+	Missense_Mutation	SNP	G	G	T	rs139202898		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr13:29008057G>T	ENST00000282397.4	-	6	963	c.712C>A	c.(712-714)Cgc>Agc	p.R238S	FLT1_ENST00000541932.1_Missense_Mutation_p.R238S|FLT1_ENST00000539099.1_Missense_Mutation_p.R238S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	238	Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.R238S(2)|p.R238C(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTGACTGGGCGTGGTGTGCTT	0.383000													60	102					4.09171e-25	6.94973e-25	0.003610	1	0
GUCY2F	2986	broad.mit.edu	37	X	108631889	108631889	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:108631889C>A	ENST00000218006.2	-	15	3076	c.2785G>T	c.(2785-2787)Gag>Tag	p.E929*		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	929	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.E929*(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCAATGGTCTCTACCTGGGAA	0.448000													57	123					3.76997e-23	6.20072e-23	0.003610	1	0
FIGN	55137	broad.mit.edu	37	2	164467657	164467657	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:164467657G>A	ENST00000333129.3	-	3	999	c.685C>T	c.(685-687)Cca>Tca	p.P229S	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	229	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.P229S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AAGGCTGGTGGCGGAGGAGGT	0.557000													16	37					0	0	0.007413	0	0
DMXL2	23312	broad.mit.edu	37	15	51756966	51756966	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr15:51756966A>C	ENST00000251076.5	-	32	7998	c.7711T>G	c.(7711-7713)Tat>Gat	p.Y2571D	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.Y1935D|DMXL2_ENST00000543779.2_Missense_Mutation_p.Y2572D	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2571						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.Y2571D(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTGTTGATATAGTTAGGGGGT	0.403000													73	34					0	0	0.003610	0	0
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs71905623		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667000									Androgen Insensitivity Syndrome				4	24					0	0	0.009096	0	0
PUM2	23369	broad.mit.edu	37	2	20483206	20483206	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:20483206C>T	ENST00000361078.2	-	10	1355	c.1333G>A	c.(1333-1335)Ggt>Agt	p.G445S	PUM2_ENST00000403432.1_Missense_Mutation_p.G445S|PUM2_ENST00000338086.5_Missense_Mutation_p.G445S|PUM2_ENST00000536417.1_Missense_Mutation_p.G389S|PUM2_ENST00000319801.5_Missense_Mutation_p.G445S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	445	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.G445S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTAAGGCACCAGTCTGATCA	0.418000													27	66					0	0	0.005443	0	0
DISP1	84976	broad.mit.edu	37	1	223178057	223178057	+	Silent	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:223178057C>T	ENST00000284476.6	+	8	3482	c.3318C>T	c.(3316-3318)acC>acT	p.T1106T		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1106					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.T1106T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TAGCTTACACCCAGCTGGGCA	0.572000													18	32					0	0	0.007413	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981097	61981097	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:61981097G>T	ENST00000370263.4	-	5	1887	c.1666C>A	c.(1666-1668)Ccg>Acg	p.P556T	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	556					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.P556T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGCAGGTGCGGGGGCGGCGCT	0.662000													23	38					6.32553e-13	8.55212e-13	0.004656	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222831	140222831	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:140222831C>G	ENST00000531613.1	+	1	1925	c.1925C>G	c.(1924-1926)tCt>tGt	p.S642C	PCDHA8_ENST00000378123.3_Missense_Mutation_p.S642C|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1												p.S642C(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCGGACTCTCCGCGCCAC	0.657000													22	109					0	0	0.003954	0	0
ADAM32	203102	broad.mit.edu	37	8	39027465	39027465	+	Silent	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:39027465A>T	ENST00000379907.4	+	10	991	c.864A>T	c.(862-864)gcA>gcT	p.A288A	ADAM32_ENST00000437682.2_Silent_p.A295A|ADAM32_ENST00000519315.1_Silent_p.A288A	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	288	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.A287A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATTTGGGAGCAGTGTTTCCTG	0.254000													29	53					0	0	0.004289	0	0
USH2A	7399	broad.mit.edu	37	1	215847564	215847564	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:215847564G>C	ENST00000366943.2	-	63	14075	c.13689C>G	c.(13687-13689)atC>atG	p.I4563M	USH2A_ENST00000307340.3_Missense_Mutation_p.I4563M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4563	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.I4563M(1)		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)		GGGTATAATTGATGATATCAC	0.408000										HNSCC(13;0.011)			54	101					0	0	0.003610	0	0
VPS26B	112936	broad.mit.edu	37	11	134104877	134104877	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:134104877G>T	ENST00000281187.5	+	2	788	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	VPS26B_ENST00000525095.2_Missense_Mutation_p.A104S|VPS26B_ENST00000530402.1_3'UTR	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	104					protein transport|vacuolar transport	cytosol|retromer complex		p.A104S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		CCAGTCGCAGGCCTTCGACTT	0.552000													26	17					4.7796e-09	5.73892e-09	0.004656	1	0
CYP11B1	1584	broad.mit.edu	37	8	143957750	143957750	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:143957750G>T	ENST00000292427.4	-	5	893	c.861C>A	c.(859-861)acC>acA	p.T287T	CYP11B1_ENST00000517471.1_Silent_p.T287T|CYP11B1_ENST00000377675.3_Silent_p.T358T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	287					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.T287T(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCACGATGCTGGTGTACTGTT	0.582000									Familial Hyperaldosteronism type I				5	15					3.59834e-05	3.90445e-05	0.001168	1	0
MN1	4330	broad.mit.edu	37	22	28194003	28194003	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr22:28194003G>T	ENST00000302326.4	-	1	3483	c.2529C>A	c.(2527-2529)aaC>aaA	p.N843K		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	843							binding	p.N843K(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCACGTTGAGGTTGGGGGCCC	0.642000			T	ETV6	"""AML, meningioma"""								51	42					4.96213e-28	8.71273e-28	0.003610	1	0
SPAG4	6676	broad.mit.edu	37	20	34205716	34205716	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:34205716C>A	ENST00000374273.3	+	4	604	c.492C>A	c.(490-492)atC>atA	p.I164I	SPAG4_ENST00000462896.1_Intron	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	164					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	p.I164I(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TCTGTTCCATCCGCTTCCTGT	0.637000													37	65					1.03484e-13	1.42474e-13	0.005524	1	0
CSHL1	1444	broad.mit.edu	37	17	61988148	61988148	+	Silent	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:61988148C>T	ENST00000392824.4	-	2	208	c.147G>A	c.(145-147)ctG>ctA	p.L49L	CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Silent_p.L49L|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	49						extracellular region	hormone activity|metal ion binding	p.L49L(1)		endometrium(3)|lung(6)	9						TGTCAATGGCCAGCTGGTGTG	0.567000													60	138					0	0	0.003610	0	0
GPR26	2849	broad.mit.edu	37	10	125426527	125426527	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:125426527C>G	ENST00000284674.1	+	1	657	c.604C>G	c.(604-606)Cat>Gat	p.H202D		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	202					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H202D(1)		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)				GGCCCGCTTCCATTGCAAGCG	0.627000													5	8					0	0	0.000602	0	0
DRP2	1821	broad.mit.edu	37	X	100505911	100505911	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:100505911C>A	ENST00000395209.3	+	16	2231	c.1704C>A	c.(1702-1704)acC>acA	p.T568T	DRP2_ENST00000402866.1_Silent_p.T568T|DRP2_ENST00000538510.1_Silent_p.T568T|DRP2_ENST00000541709.1_Silent_p.T490T	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	568					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	p.T565I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CGTAGAGCACCGGGAAGCCAG	0.572000													52	100					1.13148e-14	1.61027e-14	0.003610	1	0
F10	2159	broad.mit.edu	37	13	113803753	113803753	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr13:113803753C>A	ENST00000375559.3	+	8	1427	c.1389C>A	c.(1387-1389)gaC>gaA	p.D463E	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	463	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	p.D463E(1)		endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTGGATCGACAGGTCCATGA	0.572000													30	70					1.08312e-15	1.5746e-15	0.009535	1	0
NOVA1	4857	broad.mit.edu	37	14	26918160	26918160	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:26918160T>A	ENST00000539517.2	-	5	846	c.529A>T	c.(529-531)Ata>Tta	p.I177L	NOVA1_ENST00000267422.7_Missense_Mutation_p.I55L|NOVA1_ENST00000465357.2_Missense_Mutation_p.I153L	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	180	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.I177L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTGGGAACTATAATCTTTACC	0.363000													40	99					0	0	0.008740	0	0
MMP26	56547	broad.mit.edu	37	11	5010946	5010946	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:5010946G>T	ENST00000380390.1	+	3	384	c.168G>T	c.(166-168)caG>caT	p.Q56H	MMP26_ENST00000300762.1_Missense_Mutation_p.Q56H|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	56					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q56H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACAAACACAGCTCCTGCAAC	0.502000													10	11					5.16669e-11	6.52837e-11	0.000978	1	0
SLC35A2	7355	broad.mit.edu	37	X	48762039	48762039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:48762039C>A	ENST00000376521.1	-	4	1468	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	SLC35A2_ENST00000452555.2_Nonsense_Mutation_p.E411*|SLC35A2_ENST00000376529.3_Missense_Mutation_p.G186V|SLC35A2_ENST00000247138.5_Nonsense_Mutation_p.E383*|SLC35A2_ENST00000445167.2_Missense_Mutation_p.G186V|SLC35A2_ENST00000413561.2_Nonsense_Mutation_p.E322*|SLC35A2_ENST00000376515.3_Missense_Mutation_p.G162V	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	383					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	p.G186V(1)|p.E383*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						AGAAAGGGCTCCGTGATGAGG	0.662000													12	27					6.31663e-08	7.37485e-08	0.003163	1	0
CTNND2	1501	broad.mit.edu	37	5	11199707	11199707	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:11199707G>C	ENST00000304623.8	-	11	2017	c.1828C>G	c.(1828-1830)Cgt>Ggt	p.R610G	CTNND2_ENST00000359640.2_Missense_Mutation_p.R610G|CTNND2_ENST00000511377.1_Missense_Mutation_p.R519G|CTNND2_ENST00000458100.2_Missense_Mutation_p.R177G|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.R273G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	610					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.R610G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGGCACTACGGTGGACTTCG	0.507000													156	68					0	0	0.003610	0	0
DRP2	1821	broad.mit.edu	37	X	100509421	100509421	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:100509421C>T	ENST00000395209.3	+	18	2512	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	DRP2_ENST00000402866.1_Missense_Mutation_p.S662F|DRP2_ENST00000538510.1_Missense_Mutation_p.S662F|DRP2_ENST00000541709.1_Missense_Mutation_p.S584F	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	662					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	p.S659F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAGACCACATCCAGTGAGAAC	0.512000													18	24					0	0	0.007413	0	0
SUCO	51430	broad.mit.edu	37	1	172571257	172571257	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:172571257G>T	ENST00000367723.3	+	20	3652	c.3528G>T	c.(3526-3528)ttG>ttT	p.L1176F	SUCO_ENST00000263688.3_Missense_Mutation_p.L1024F	NM_016227.2	NP_057311.2			SUN domain containing ossification factor									p.L1024F(1)|p.L1176F(1)									GTGTTGTCTTGGGACTGATGC	0.343000													39	85					1.49673e-21	2.42636e-21	0.006230	1	0
RLIM	51132	broad.mit.edu	37	X	73811822	73811822	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:73811822C>A	ENST00000332687.6	-	4	1546	c.1328G>T	c.(1327-1329)cGg>cTg	p.R443L	RLIM_ENST00000349225.2_Missense_Mutation_p.R443L	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	443	Ser-rich.				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.R443L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTCCACTCCGTGACTCTGC	0.468000													45	79					6.81593e-30	1.20934e-29	0.003610	1	0
OR2T34	127068	broad.mit.edu	37	1	248737546	248737546	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:248737546G>T	ENST00000328782.2	-	1	534	c.513C>A	c.(511-513)ttC>ttA	p.F171L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F171L(1)		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)			GGCAAAAGGGGAAGCTCATGG	0.522000													26	9					1.13719e-10	1.42096e-10	0.008361	1	0
SLC10A3	8273	broad.mit.edu	37	X	153716008	153716008	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:153716008C>G	ENST00000263512.4	-	2	1770	c.1272G>C	c.(1270-1272)caG>caC	p.Q424H	SLC10A3_ENST00000393586.1_Missense_Mutation_p.Q479H|SLC10A3_ENST00000393587.4_Missense_Mutation_p.Q424H|SLC10A3_ENST00000369649.4_Missense_Mutation_p.Q395H	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	424					organic anion transport	integral to membrane	bile acid:sodium symporter activity	p.Q424H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGGCTGTTCTGCACCCCTA	0.652000													17	51					0	0	0.006122	0	0
PAIP1	10605	broad.mit.edu	37	5	43535036	43535036	+	Silent	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:43535036G>C	ENST00000306846.3	-	8	1348	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L	PAIP1_ENST00000514514.1_Silent_p.L293L|PAIP1_ENST00000338972.4_Silent_p.L260L|PAIP1_ENST00000436644.2_Silent_p.L293L	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	372	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	p.L372L(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TACTTGACCGGAGTTCTACAA	0.393000													27	133					0	0	0.007291	0	0
TNN	63923	broad.mit.edu	37	1	175049402	175049402	+	Nonsense_Mutation	SNP	C	C	A	rs34902018		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:175049402C>A	ENST00000239462.4	+	4	1001	c.888C>A	c.(886-888)taC>taA	p.Y296*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	296	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.Y296*(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)		TCAGCTACTACCCCCTGGGGA	0.572000													13	35					7.93312e-07	9.04349e-07	0.002450	1	0
ZNF510	22869	broad.mit.edu	37	9	99521205	99521205	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr9:99521205G>T	ENST00000375231.1	-	6	2557	c.1907C>A	c.(1906-1908)aCt>aAt	p.T636N	ZNF510_ENST00000223428.4_Missense_Mutation_p.T636N			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T636N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTGGCCAAAAGTTTTCCCACA	0.383000													62	42					1.11378e-47	2.15735e-47	0.003610	1	0
SEMG2	6407	broad.mit.edu	37	20	43851752	43851752	+	Silent	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:43851752T>C	ENST00000372769.3	+	2	1569	c.1479T>C	c.(1477-1479)agT>agC	p.S493S		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	493	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.S493S(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCCAAAGCAGTATTTCTTTCC	0.383000													21	50					0	0	0.008871	0	0
EFHC2	80258	broad.mit.edu	37	X	44094637	44094637	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:44094637C>A	ENST00000420999.1	-	9	1420	c.1337G>T	c.(1336-1338)tGt>tTt	p.C446F		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	446	DM10 3.						calcium ion binding	p.C446F(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CAAGTCAACACATTTGTCTGT	0.358000													5	11					0.000602214	0.000635097	0.000602	1	0
MS4A6A	64231	broad.mit.edu	37	11	59947340	59947340	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:59947340C>A	ENST00000528851.1	-	3	386	c.246G>T	c.(244-246)ctG>ctT	p.L82L	MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000530839.1_Silent_p.L82L|MS4A6A_ENST00000426738.2_Intron|MS4A6A_ENST00000412309.2_Silent_p.L110L|MS4A6A_ENST00000420732.2_Silent_p.L82L|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529054.1_Silent_p.L110L|MS4A6A_ENST00000323961.3_Silent_p.L82L|MS4A6A_ENST00000532169.1_Silent_p.L82L			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	82						integral to membrane	receptor activity	p.L110L(1)|p.L82L(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAGTTCAACAGTGTAGAAG	0.458000													23	37					1.9806e-07	2.30049e-07	0.002299	1	0
KTI12	112970	broad.mit.edu	37	1	52499255	52499255	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:52499255C>A	ENST00000371614.1	-	1	233	c.179G>T	c.(178-180)gGa>gTa	p.G60V	TXNDC12_ENST00000472624.1_Intron|RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	60							ATP binding	p.G60V(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						TCGCAGAGCTCCACGCAATGC	0.637000													12	13					9.31168e-06	1.03361e-05	0.001855	1	0
UBASH3A	53347	broad.mit.edu	37	21	43857596	43857596	+	Splice_Site	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr21:43857596A>T	ENST00000319294.6	+	11	1424		c.e11-1		UBASH3A_ENST00000398367.1_Splice_Site|UBASH3A_ENST00000291535.6_Splice_Site	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A							cytosol|nucleus		p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACTATTTTCCAGGGGACGCGC	0.542000													16	25					0	0	0.004990	0	0
PRDM4	11108	broad.mit.edu	37	12	108147786	108147786	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:108147786C>T	ENST00000228437.5	-	4	705	c.246G>A	c.(244-246)atG>atA	p.M82I	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	82					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.M82I(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GTAACCCACACATCACCCCTC	0.507000													22	72					0	0	0.001882	0	0
CARD11	84433	broad.mit.edu	37	7	2949713	2949713	+	Silent	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:2949713C>T	ENST00000396946.4	-	24	3634	c.3231G>A	c.(3229-3231)cgG>cgA	p.R1077R		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1077	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R1070R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCTCACACACCCGGATGAAGA	0.587000			Mis		DLBCL								37	82					0	0	0.005524	0	0
OR2M5	127059	broad.mit.edu	37	1	248308657	248308657	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:248308657G>C	ENST00000366476.1	+	1	208	c.208G>C	c.(208-210)Gac>Cac	p.D70H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D70H(1)|p.D70N(1)		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)			GTTCCTCATGGACCTCATGCT	0.502000													119	198					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168115203	168115203	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:168115203C>T	ENST00000409728.1	+	11	2335	c.2246C>T	c.(2245-2247)tCa>tTa	p.S749L	XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.S749L|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.S494L|XIRP2_ENST00000409043.1_Missense_Mutation_p.S716L|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.S716L	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1267					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						GTAGCAGTCTCATATCTGAAT	0.308000													14	55					0	0	0.002450	0	0
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:140481411C>A	ENST00000288602.6	-	11	1457	c.1397G>T	c.(1396-1398)gGa>gTa	p.G466V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	466	Protein kinase.		G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G466V(15)|p.G466E(5)|p.G466A(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCAAATGATCCAGATCCAAT	0.378000	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				62	107					6.25564e-26	1.07878e-25	0.003610	1	0
ZNF711	7552	broad.mit.edu	37	X	84525804	84525804	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:84525804G>T	ENST00000360700.4	+	10	2280	c.1394G>T	c.(1393-1395)tGt>tTt	p.C465F	ZNF711_ENST00000373165.3_Missense_Mutation_p.C419F|ZNF711_ENST00000542798.1_Missense_Mutation_p.C261F|ZNF711_ENST00000276123.3_Missense_Mutation_p.C419F|ZNF711_ENST00000395402.1_Missense_Mutation_p.C427F			Q9Y462	ZN711_HUMAN	zinc finger protein 711	419					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.C429F(1)|p.C419F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGTACAGATTGTGACTTTACA	0.318000													8	21					5.18039e-06	5.81718e-06	0.003080	1	0
TRBV24-1	28563	broad.mit.edu	37	7	142364503	142364503	+	RNA	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:142364503G>A	ENST00000390397.2	+	0	174																											CTCAGACTAAGGGTCATGATA	0.438000													7	21					0	0	0.004482	0	0
HDX	139324	broad.mit.edu	37	X	83581269	83581269	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:83581269G>T	ENST00000297977.5	-	9	1975	c.1864C>A	c.(1864-1866)Caa>Aaa	p.Q622K	HDX_ENST00000373177.2_Missense_Mutation_p.Q622K|HDX_ENST00000506585.2_Missense_Mutation_p.Q564K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	622						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q622K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTTGCTTTTGAATCTCGAGC	0.333000													26	54					7.92952e-12	1.02886e-11	0.003954	1	0
TYRO3	7301	broad.mit.edu	37	15	41857260	41857260	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr15:41857260A>G	ENST00000263798.3	+	6	928	c.704A>G	c.(703-705)aAg>aGg	p.K235R	TYRO3_ENST00000559066.1_Missense_Mutation_p.K190R	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	235	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.K227R(1)|p.K235R(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACCGTGACAAAGCTTTCCAGC	0.607000													17	4					0	0	0.007413	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423189	107423189	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:107423189G>T	ENST00000409382.3	-	6	2145	c.1535C>A	c.(1534-1536)cCc>cAc	p.P512H	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P512H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	512					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.P512H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTGGAAGCCGGGAAGAACCAC	0.547000													26	52					8.24728e-16	1.20917e-15	0.004656	1	0
COL5A2	1290	broad.mit.edu	37	2	189925510	189925510	+	Splice_Site	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:189925510C>A	ENST00000374866.3	-	31	2306		c.e31-1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.?(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAGGAAGCCCCTAAAACAAAA	0.393000													12	39					0.00185496	0.0019411	0.001855	1	0
MSC	9242	broad.mit.edu	37	8	72754925	72754925	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:72754925C>A	ENST00000325509.4	-	2	881	c.592G>T	c.(592-594)Gcc>Tcc	p.A198S	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	198					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.A198S(1)		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)			AGTCTGTTGGCTGCGGAAACT	0.478000													183	351					9.20376e-97	1.8628e-96	0.003610	1	0
PTPRN2	5799	broad.mit.edu	37	7	157387960	157387960	+	Silent	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:157387960C>T	ENST00000389413.3	-	16	2482	c.2379G>A	c.(2377-2379)ccG>ccA	p.P793P	PTPRN2_ENST00000404321.2_Silent_p.P845P|PTPRN2_ENST00000389416.4_Silent_p.P805P|PTPRN2_ENST00000409483.1_Silent_p.P784P|PTPRN2_ENST00000389418.4_Silent_p.P822P	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	822	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P822P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGGCGGGCAGCGGTCCCTGGG	0.517000													21	51					0	0	0.001882	0	0
ENPP3	5169	broad.mit.edu	37	6	132047241	132047241	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:132047241G>T	ENST00000414305.1	+	21	2182	c.1854G>T	c.(1852-1854)aaG>aaT	p.K618N	ENPP3_ENST00000357639.3_Missense_Mutation_p.K618N|ENPP3_ENST00000358229.5_Missense_Mutation_p.K618N			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	618	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.K618N(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TACTGCAGAAGAACGTGGACC	0.408000													22	52					1.50039e-11	1.93193e-11	0.001882	1	0
UNC5C	8633	broad.mit.edu	37	4	96137361	96137361	+	Splice_Site	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:96137361T>A	ENST00000453304.1	-	10	1995	c.1645_splice	c.e10-1	p.G549_splice	UNC5C_ENST00000506749.1_Splice_Site_p.G568_splice	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	549	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.G549G(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCAAGCTGACTCCTGAATAGC	0.443000													6	36					0	0	0.001168	0	0
ULBP2	80328	broad.mit.edu	37	6	150267592	150267592	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:150267592G>A	ENST00000367351.3	+	3	507	c.434G>A	c.(433-435)gGg>gAg	p.G145E		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	145	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity	p.G145E(1)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AGTTTCGATGGGCAGATCTTC	0.502000													26	64					0	0	0.004656	0	0
GPKOW	27238	broad.mit.edu	37	X	48972137	48972137	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:48972137C>A	ENST00000156109.5	-	9	1231	c.1153G>T	c.(1153-1155)Gat>Tat	p.D385Y		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	385						nucleus	nucleic acid binding	p.D385Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CTTAGGACATCTTCAATTATC	0.547000													34	67					1.07637e-12	1.44084e-12	0.004878	1	0
GCC1	79571	broad.mit.edu	37	7	127223354	127223354	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:127223354C>T	ENST00000321407.2	-	2	1466	c.1042G>A	c.(1042-1044)Gca>Aca	p.A348T	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	348						Golgi membrane|plasma membrane	protein binding	p.A348T(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGATCCTCTGCAAGAGCTGTC	0.512000													48	75					0	0	0.003610	0	0
VPS33A	65082	broad.mit.edu	37	12	122724487	122724487	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:122724487C>T	ENST00000267199.4	-	9	1214	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.E329K	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	368					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.E368K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AAAAAGTCTTCAGAAGCTAAA	0.313000													24	86					0	0	0.004656	0	0
PNCK	139728	broad.mit.edu	37	X	152938117	152938117	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:152938117C>T	ENST00000393831.2	-	3	538	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	PNCK_ENST00000340888.3_Missense_Mutation_p.R35Q|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Missense_Mutation_p.R118Q|PNCK_ENST00000370142.1_Missense_Mutation_p.R35Q|PNCK_ENST00000370145.4_Missense_Mutation_p.R52Q|PNCK_ENST00000370150.1_Missense_Mutation_p.R35Q	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	35	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.R52Q(1)|p.R35Q(1)|p.R64Q(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCGGAGCCCCGCTCCTGGGC	0.682000													13	97					0	0	0.001368	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931732	102931732	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:102931732G>T	ENST00000423833.2	-	3	1449	c.224C>A	c.(223-225)aCc>aAc	p.T75N	MORF4L2_ENST00000422154.2_Missense_Mutation_p.T75N|MORF4L2_ENST00000441076.2_Missense_Mutation_p.T75N|MORF4L2_ENST00000360458.1_Missense_Mutation_p.T75N|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Missense_Mutation_p.T75N|MORF4L2_ENST00000433176.2_Missense_Mutation_p.T75N			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	75					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	p.T75N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GTTCTTTCTGGTCTTCCTCAC	0.572000													27	65					2.12542e-12	2.81722e-12	0.006320	1	0
C6orf118	168090	broad.mit.edu	37	6	165706873	165706873	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:165706873A>T	ENST00000543069.1	-	6	1418	c.837T>A	c.(835-837)taT>taA	p.Y279*	C6orf118_ENST00000230301.8_Intron			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	0										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CAAAGCACCCATAAGGAAGGA	0.502000													22	51					0	0	0.003954	0	0
RYR2	6262	broad.mit.edu	37	1	237580393	237580393	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:237580393C>T	ENST00000366574.2	+	11	1135	c.818C>T	c.(817-819)tCc>tTc	p.S273F	RYR2_ENST00000542537.1_Missense_Mutation_p.S257F|RYR2_ENST00000360064.6_Missense_Mutation_p.S271F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	273	MIR 3.				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	p.S271F(1)		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)			CATGCACGTTCCCTTTGGAGA	0.418000													9	48					0	0	0.008291	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45711277	45711277	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:45711277C>G	ENST00000310806.4	-	4	1561	c.1103G>C	c.(1102-1104)aGa>aCa	p.R368T	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	368					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.R368T(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTGAAATATTCTTGGAGGAGA	0.318000													24	126					0	0	0.002299	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056732	120056732	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:120056732C>A	ENST00000235547.6	+	4	731	c.592C>A	c.(592-594)Cga>Aga	p.R198R	HSD3B1_ENST00000528909.1_Silent_p.R196R|HSD3B1_ENST00000369413.3_Silent_p.R196R	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	196					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.R196R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GGAAGGAAGCCGATTCCTTTC	0.488000													19	61					2.4624e-09	2.97778e-09	0.008871	1	0
PRCC	5546	broad.mit.edu	37	1	156770211	156770211	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:156770211A>T	ENST00000271526.4	+	7	1707	c.1435A>T	c.(1435-1437)Aag>Tag	p.K479*	PRCC_ENST00000353233.3_Nonsense_Mutation_p.K447*	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	479					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.K479*(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTCAGAGAACAAGCTCAGCCG	0.582000			T	TFE3	papillary renal								19	35					0	0	0.003330	0	0
MC5R	4161	broad.mit.edu	37	18	13825812	13825812	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr18:13825812C>A	ENST00000324750.3	+	1	270	c.48C>A	c.(46-48)gcC>gcA	p.A16A		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	16					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.A16A(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ACCTGAATGCCACAGAGGGCA	0.438000													38	57					2.66277e-13	3.65118e-13	0.006999	1	0
L1CAM	3897	broad.mit.edu	37	X	153135652	153135652	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:153135652G>T	ENST00000370060.1	-	9	1039	c.850C>A	c.(850-852)Cca>Aca	p.P284T	L1CAM_ENST00000538883.1_Missense_Mutation_p.P286T|L1CAM_ENST00000543994.1_Missense_Mutation_p.P286T|L1CAM_ENST00000370057.3_Missense_Mutation_p.P284T|L1CAM_ENST00000361699.4_Missense_Mutation_p.P284T|L1CAM_ENST00000361981.3_Missense_Mutation_p.P279T|L1CAM_ENST00000370055.1_Missense_Mutation_p.P279T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	284	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.P284T(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGTCGGCTGGCATGGGGCCA	0.622000													83	414					4.9328e-52	9.60972e-52	0.003610	1	0
DEFB110	245913	broad.mit.edu	37	6	49989688	49989688	+	Translation_Start_Site	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:49989688T>A	ENST00000371148.2	-	0	6					NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus						defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ACAGACCTCCTTTTTCAAGTC	0.363000													14	14					0	0	0.001855	0	0
BAGE2	85319	broad.mit.edu	37	21	11049568	11049568	+	RNA	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr21:11049568G>T	ENST00000470054.1	-	0	540									B melanoma antigen family, member 2															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)		CAAAAGAACTGATCTAAGAGG	0.413000													12	320					1.45105e-14	2.05211e-14	0.006122	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6083359	6083359	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:6083359G>T	ENST00000409021.3	-	6	1527	c.1078C>A	c.(1078-1080)Ctc>Atc	p.L360I	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.L195I|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.L195I|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.L360I|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.L360I	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	360	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.L360I(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCGCGTGAGGTTCTTGATT	0.532000													23	67					1.10513e-12	1.47642e-12	0.002299	1	0
BCAN	63827	broad.mit.edu	37	1	156622711	156622711	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:156622711C>A	ENST00000361588.5	+	8	2010	c.1969C>A	c.(1969-1971)Ctc>Atc	p.L657I	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000329117.4_Intron	NM_198427.1	NP_940819.1	Q96GW7	PGCB_HUMAN	brevican	0	EGF-like.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.L657I(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCAACTGCCCTCTCTATCCT	0.587000													24	59					4.59853e-10	5.69342e-10	0.005443	1	0
NALCN	259232	broad.mit.edu	37	13	101833607	101833607	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr13:101833607G>T	ENST00000376196.3	-	15	2005	c.1846C>A	c.(1846-1848)Cct>Act	p.P616T	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000251127.6_Intron			Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1529						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)					TGGCTTCCAGGCAGAGGGTTT	0.547000													22	47					1.85244e-09	2.26447e-09	0.003330	1	0
DENND5B	160518	broad.mit.edu	37	12	31586069	31586069	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:31586069C>A	ENST00000354285.4	-	9	2371	c.2192G>T	c.(2191-2193)tGg>tTg	p.W731L	DENND5B_ENST00000306833.6_Intron|DENND5B_ENST00000536562.1_Intron|DENND5B_ENST00000389082.5_Intron			Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	0						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGAGGCACCCCAGGAAGGTAG	0.478000													39	20					9.73076e-26	1.66954e-25	0.006999	1	0
PROX1	5629	broad.mit.edu	37	1	214170994	214170994	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:214170994G>T	ENST00000366958.4	+	2	1724	c.1116G>T	c.(1114-1116)tcG>tcT	p.S372S	PROX1_ENST00000261454.4_Silent_p.S372S|PROX1_ENST00000498508.2_Silent_p.S372S|PROX1_ENST00000435016.1_Silent_p.S372S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	372					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.S372S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAGTCTTTTCGGCCAAGCCCT	0.532000													26	40					4.87955e-14	6.77326e-14	0.005443	1	0
LRP4	4038	broad.mit.edu	37	11	46894955	46894955	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:46894955G>T	ENST00000378623.1	-	29	4661	c.4419C>A	c.(4417-4419)ccC>ccA	p.P1473P	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1473				EPRA -> D (in Ref. 2; BAE19679).	endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.P1473P(1)		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)		CAATGGCCCGGGGCTCATCCA	0.542000													15	9					1.99824e-07	2.31303e-07	0.004990	1	0
THBS2	7058	broad.mit.edu	37	6	169648614	169648614	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:169648614G>A	ENST00000366787.3	-	4	756	c.507C>T	c.(505-507)ctC>ctT	p.L169L		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	169	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.L169L(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGCTGTCTATGAGGTCGCAGC	0.612000													13	37					0	0	0.001368	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184388	130184388	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:130184388G>T	ENST00000422113.2	-	2	1261	c.935C>A	c.(934-936)tCc>tAc	p.S312Y		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	312						integral to membrane		p.S312Y(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGAATTTCTGGAGATGGAAAC	0.507000													20	29					6.33239e-15	9.08852e-15	0.010504	1	0
XDH	7498	broad.mit.edu	37	2	31625983	31625983	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:31625983C>A	ENST00000379416.3	-	3	176	c.128G>T	c.(127-129)tGt>tTt	p.C43F		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	43	2Fe-2S ferredoxin-type.				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	p.C43F(1)		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)	CCCCTCTCCACAGCCGAGCTT	0.567000													17	45					5.35267e-07	6.12251e-07	0.007413	1	0
RGS7	6000	broad.mit.edu	37	1	240990412	240990412	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:240990412G>T	ENST00000366565.1	-	10	1051	c.670C>A	c.(670-672)Cac>Aac	p.H224N	RGS7_ENST00000348120.2_Missense_Mutation_p.H171N|RGS7_ENST00000331110.7_Missense_Mutation_p.H198N|RGS7_ENST00000366562.4_Missense_Mutation_p.H224N|RGS7_ENST00000407727.1_Missense_Mutation_p.H224N|RGS7_ENST00000366563.1_Missense_Mutation_p.H224N|RGS7_ENST00000366564.1_Missense_Mutation_p.H224N|RGS7_ENST00000401882.1_Missense_Mutation_p.H171N|RGS7_ENST00000446183.2_Missense_Mutation_p.H140N	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	224					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.H224N(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CGTGTTTTGTGGGGGTTTCTC	0.403000													24	59					2.41591e-17	3.62924e-17	0.004656	1	0
C6orf222	389384	broad.mit.edu	37	6	36293104	36293104	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:36293104T>C	ENST00000437635.2	-	6	1301	c.1124A>G	c.(1123-1125)cAg>cGg	p.Q375R		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	375								p.Q375R(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCCAGGTTCCTGGCTCTCTGA	0.557000													33	16					0	0	0.003271	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22175692	22175692	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:22175692G>T	ENST00000344041.6	-	23	2233	c.1921C>A	c.(1921-1923)Cca>Aca	p.P641T	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.P491T	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	491					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	p.P355T(1)|p.P643T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						ATTTTTGGTGGCTTCATCTTT	0.333000													11	70					5.16669e-11	6.52837e-11	0.000978	1	0
TNN	63923	broad.mit.edu	37	1	175067611	175067611	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:175067611G>T	ENST00000239462.4	+	9	2112	c.1999G>T	c.(1999-2001)Ggg>Tgg	p.G667W		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	667	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G667W(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)		GGTTCCGGTGGGGAAGGAGCA	0.627000													22	60					5.26018e-13	7.16911e-13	0.001882	1	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971153	31971153	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr21:31971153C>A	ENST00000334897.3	-	1	66	c.41G>T	c.(40-42)gGc>gTc	p.G14V		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	14						intermediate filament		p.G14V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GCACCCATAGCCATGGTCGCC	0.557000													19	49					1.15919e-05	1.2825e-05	0.008871	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72051003	72051003	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:72051003T>A	ENST00000378743.3	-	2	1035	c.677A>T	c.(676-678)gAa>gTa	p.E226V	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.E226V|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.E226V|ZFC3H1_ENST00000549407.1_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	226					RNA processing	intracellular	metal ion binding	p.E226V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAGCAAATCTTCAAAAGTTTC	0.318000													21	46					0	0	0.010504	0	0
IGSF11	152404	broad.mit.edu	37	3	118645047	118645047	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:118645047C>T	ENST00000354673.2	-	6	858	c.478G>A	c.(478-480)Gtc>Atc	p.V160I	IGSF11_ENST00000491903.1_Missense_Mutation_p.V161I|IGSF11_ENST00000425327.2_Missense_Mutation_p.V160I|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000441144.2_Missense_Mutation_p.V160I|IGSF11_ENST00000393775.2_Missense_Mutation_p.V161I|IGSF11_ENST00000489689.1_Missense_Mutation_p.V161I	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	161	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.V161I(1)|p.V160I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGCAGGATGACATCGCTGCCA	0.468000													32	40					0	0	0.009535	0	0
TECTA	7007	broad.mit.edu	37	11	120996407	120996407	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:120996407C>A	ENST00000392793.1	+	8	1871	c.1600C>A	c.(1600-1602)Ctg>Atg	p.L534M	TECTA_ENST00000264037.2_Missense_Mutation_p.L534M			O75443	TECTA_HUMAN	tectorin alpha	534	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.L534M(1)	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)		AGACGGCCCTCTGTGGGAGTG	0.602000													27	90					3.73148e-12	4.87907e-12	0.007291	1	0
BAGE2	85319	broad.mit.edu	37	21	11049455	11049455	+	RNA	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr21:11049455G>T	ENST00000470054.1	-	0	653									B melanoma antigen family, member 2															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)		CTTACTTGCAGTTCTGGCACA	0.418000													16	333					9.95505e-16	1.45035e-15	0.002299	1	0
WISP2	8839	broad.mit.edu	37	20	43355732	43355732	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:43355732C>A	ENST00000372865.4	+	3	798	c.290C>A	c.(289-291)cCc>cAc	p.P97H	WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000190983.4_Silent_p.P179P|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000372868.2_Silent_p.P179P			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	97					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	p.P179P(1)		skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCCTAGGACCCCAGTTTTCTG	0.622000													19	59					6.94344e-10	8.56527e-10	0.006122	1	0
TG	7038	broad.mit.edu	37	8	134030139	134030139	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:134030139C>A	ENST00000220616.4	+	38	6719	c.6679C>A	c.(6679-6681)Cag>Aag	p.Q2227K	TG_ENST00000519543.1_Missense_Mutation_p.Q360K|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.Q597K|TG_ENST00000377869.1_Missense_Mutation_p.Q2170K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2227					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.Q2227K(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCAAGTGGACCAGTTCCTTGG	0.617000													25	43					6.32553e-13	8.55212e-13	0.004656	1	0
MAML1	9794	broad.mit.edu	37	5	179192681	179192681	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:179192681C>G	ENST00000292599.3	+	2	933	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	224					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	p.L261V(1)|p.L224V(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTCGAAGACCTGCCTTGCAT	0.527000													11	45					0	0	0.000978	0	0
EGR1	1958	broad.mit.edu	37	5	137802793	137802793	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:137802793G>A	ENST00000239938.4	+	2	927	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	219			E -> D (in dbSNP:rs28365165).		cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E219K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATTTTCCCTGAGCCACAAAG	0.642000													121	38					0	0	0.003610	0	0
KYNU	8942	broad.mit.edu	37	2	143685270	143685270	+	Silent	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:143685270A>G	ENST00000264170.4	+	4	591	c.333A>G	c.(331-333)acA>acG	p.T111T	KYNU_ENST00000375773.2_Silent_p.T111T|KYNU_ENST00000409512.1_Silent_p.T111T|KYNU_ENST00000410015.2_Silent_p.T111T	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	111					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.T111T(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CTTGGATTACAGGAGATGAGA	0.358000													65	127					0	0	0.003610	0	0
CTAGE6	340307	broad.mit.edu	37	7	143453540	143453540	+	Silent	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:143453540C>T	ENST00000470691.2	-	1	1249	c.1212G>A	c.(1210-1212)gtG>gtA	p.V404V		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					AATTTTCCTCCACTGTTAATT	0.363000													21	135					0	0	0.008871	0	0
KRTAP6-3	337968	broad.mit.edu	37	21	31964888	31964888	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr21:31964888T>A	ENST00000391624.1	+	1	130	c.103T>A	c.(103-105)Tgt>Agt	p.C35S		NM_181605.3	NP_853636.3			keratin associated protein 6-3									p.C35S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						ctatgggtgctgtggctacgg	0.607000													15	32					0	0	0.003163	0	0
ELTD1	64123	broad.mit.edu	37	1	79403823	79403823	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:79403823T>C	ENST00000370742.3	-	5	601	c.538A>G	c.(538-540)Atc>Gtc	p.I180V		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	180					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.I180V(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTGGCTGAGATAGTGTTGTTC	0.313000													12	67					0	0	0.002450	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507409	74507409	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:74507409C>A	ENST00000354431.4	-	7	1397	c.1206G>T	c.(1204-1206)cgG>cgT	p.R402R	LRRIQ3_ENST00000395089.1_Silent_p.R402R	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	402								p.R402R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTTCATACTCCGCTCCAATC	0.353000													45	44					8.20599e-20	1.29006e-19	0.002852	1	0
NIPA1	123606	broad.mit.edu	37	15	23060868	23060868	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr15:23060868C>A	ENST00000437912.2	-	3	1336	c.39G>T	c.(37-39)acG>acT	p.T13T	NIPA1_ENST00000337435.4_Silent_p.T88T|NIPA1_ENST00000538684.1_5'UTR|NIPA1_ENST00000561183.1_Silent_p.T13T			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	88					cell death	early endosome|integral to membrane|plasma membrane		p.T88T(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TGGGGACCGCCGTGTAAGCCA	0.498000													25	11					6.32553e-13	8.55212e-13	0.004656	1	0
KCNH7	90134	broad.mit.edu	37	2	163374550	163374550	+	Silent	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:163374550T>C	ENST00000332142.5	-	4	681	c.582A>G	c.(580-582)tcA>tcG	p.S194S	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Silent_p.S194S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	194					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.S194S(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCATGGCTACTGAATCATCAC	0.448000													49	95					0	0	0.003610	0	0
FAM26D	221301	broad.mit.edu	37	6	116879196	116879196	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:116879196C>T	ENST00000368596.3	+	2	811	c.767C>T	c.(766-768)cCc>cTc	p.P256L	FAM26D_ENST00000368597.2_Missense_Mutation_p.P70L|FAM26D_ENST00000416171.2_Missense_Mutation_p.P112L|FAM26D_ENST00000405399.1_Missense_Mutation_p.P113L			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	256						integral to membrane		p.P70L(2)		endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		GGCTTCATTCCCGGGAGTGAA	0.473000													34	61					0	0	0.003271	0	0
QRSL1	55278	broad.mit.edu	37	6	107100454	107100454	+	Silent	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:107100454A>G	ENST00000369046.4	+	7	950	c.846A>G	c.(844-846)ccA>ccG	p.P282P	QRSL1_ENST00000369044.1_Silent_p.P282P	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	282					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor	p.P282P(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		TAGGAATTCCAAAGGTAACTT	0.428000													6	28					0	0	0.001168	0	0
MYO7A	4647	broad.mit.edu	37	11	76867814	76867814	+	Silent	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:76867814C>T	ENST00000409709.3	+	6	851	c.579C>T	c.(577-579)acC>acT	p.T193T	MYO7A_ENST00000458637.2_Silent_p.T193T|MYO7A_ENST00000409893.1_Silent_p.T193T|MYO7A_ENST00000409619.2_Silent_p.T182T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	193	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.T193T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGAGGCCACCCCCATTCTGG	0.627000													18	61					0	0	0.002299	0	0
VPS13B	157680	broad.mit.edu	37	8	100168776	100168776	+	Splice_Site	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:100168776G>A	ENST00000395996.1	+	15	2124		c.e15-1		VPS13B_ENST00000355155.1_Splice_Site|VPS13B_ENST00000358544.2_Splice_Site|VPS13B_ENST00000357162.2_Splice_Site			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport			p.?(2)		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)			TTATTTTCTAGAACTCAAGTA	0.378000													13	92					0	0	0.001855	0	0
KDM4C	23081	broad.mit.edu	37	9	7049148	7049148	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr9:7049148C>T	ENST00000381309.3	+	17	2937	c.2372C>T	c.(2371-2373)cCa>cTa	p.P791L	KDM4C_ENST00000428870.2_Missense_Mutation_p.P478L|KDM4C_ENST00000543771.1_Missense_Mutation_p.P791L|KDM4C_ENST00000442236.2_Missense_Mutation_p.P536L|KDM4C_ENST00000535193.1_Missense_Mutation_p.P813L|KDM4C_ENST00000381306.3_Missense_Mutation_p.P791L|KDM4C_ENST00000536108.1_Intron	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	791					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.P791L(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ACTAATGTCCCAGAAAGGACA	0.403000													92	42					0	0	0.003610	0	0
PLXND1	23129	broad.mit.edu	37	3	129275994	129275994	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:129275994T>A	ENST00000324093.4	-	34	5696	c.5518A>T	c.(5518-5520)Aag>Tag	p.K1840*	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_5'UTR	NM_015103.2	NP_055918.2	Q9Y4D7	PLXD1_HUMAN	plexin D1	1840					axon guidance	integral to membrane|intracellular|plasma membrane		p.K1840*(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGATCTGCTTGTAGTAGCGC	0.612000													26	33					0	0	0.003954	0	0
RYR2	6262	broad.mit.edu	37	1	237732578	237732578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:237732578C>A	ENST00000366574.2	+	29	3874	c.3557C>A	c.(3556-3558)tCa>tAa	p.S1186*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.S1170*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.S1184*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1186	4 X approximate repeats.|B30.2/SPRY 2.				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	p.S1184*(1)		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)			CTTGATGATTCAGGCTCAGAA	0.448000													7	19					5.18039e-06	5.81718e-06	0.003080	1	0
USP34	9736	broad.mit.edu	37	2	61431428	61431428	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:61431428T>C	ENST00000398571.2	-	74	9423	c.9347A>G	c.(9346-9348)aAt>aGt	p.N3116S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3116					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.N3116S(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GAGGCACATATTGAGTTCAGG	0.413000													40	79					0	0	0.006999	0	0
SLIT2	9353	broad.mit.edu	37	4	20619132	20619132	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:20619132G>T	ENST00000504154.1	+	36	4459	c.4207G>T	c.(4207-4209)Ggt>Tgt	p.G1403C	SLIT2_ENST00000273739.5_Missense_Mutation_p.G1416C|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1399C|SLIT2_ENST00000503823.1_Missense_Mutation_p.G1395C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1403					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.G1403C(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGGCCATGGAGGTGTCCTCTG	0.552000													21	29					0.000132079	0.000141051	0.008871	1	0
TTN	7273	broad.mit.edu	37	2	179583250	179583250	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:179583250T>A	ENST00000589042.1	-	85	24807	c.24583A>T	c.(24583-24585)Act>Tct	p.T8195S	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T7878S|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T6951S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7878	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T6951S(1)		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)			GGTGTGCCAGTGTATGTGGCC	0.428000													27	37					0	0	0.004656	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518371	41518371	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:41518371G>T	ENST00000324071.4	+	7	1140	c.1133G>T	c.(1132-1134)cGa>cTa	p.R378L	CYP2B6_ENST00000593831.1_Missense_Mutation_p.R142L|CYP2B6_ENST00000330446.5_Missense_Mutation_p.R178L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	378					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R378L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCAGCTTCCGAGGGTACATC	0.512000													11	21					9.70103e-10	1.19452e-09	0.008291	1	0
KCTD8	386617	broad.mit.edu	37	4	44176822	44176822	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:44176822C>A	ENST00000360029.3	-	2	1690	c.1407G>T	c.(1405-1407)caG>caT	p.Q469H		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	469						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.Q469H(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ACCCATACTTCTGCAACAGTT	0.373000										HNSCC(17;0.042)			50	79					2.64514e-33	4.89894e-33	0.003610	1	0
ACSM2A	123876	broad.mit.edu	37	16	20497895	20497895	+	Splice_Site	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr16:20497895G>T	ENST00000573854.1	+	14	1743		c.e14-1		ACSM2A_ENST00000417235.2_Splice_Site|ACSM2A_ENST00000219054.6_Splice_Site|ACSM2A_ENST00000396104.2_Splice_Site|ACSM2A_ENST00000536134.1_Splice_Site|ACSM2A_ENST00000575690.1_Splice_Site	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTTTTCAACAGATAGAGTTTG	0.502000													60	95					8.72158e-25	1.47027e-24	0.003610	1	0
URI1	8725	broad.mit.edu	37	19	30498541	30498541	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:30498541G>A	ENST00000392271.1	+	7	979	c.454G>A	c.(454-456)Gat>Aat	p.D152N	URI1_ENST00000360605.4_Missense_Mutation_p.D210N|URI1_ENST00000542441.2_Missense_Mutation_p.D228N|URI1_ENST00000574176.1_3'UTR|URI1_ENST00000312051.6_Missense_Mutation_p.D188N	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	228					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	p.D228N(1)									GGGTGAACTTGATAGGTACTT	0.323000													8	101					0	0	0.004482	0	0
IGHV4-39	28394	broad.mit.edu	37	14	106877900	106877900	+	RNA	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:106877900C>A	ENST00000390619.2	-	0	143																											GGGCCCGACTCCTGCAGCTGC	0.582000													23	23					4.59853e-10	5.69342e-10	0.005443	1	0
IGKV1-12	28940	broad.mit.edu	37	2	89339910	89339910	+	RNA	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:89339910C>T	ENST00000480492.1	-	0	208																											ACCAGGCTAACCAGCTGCTAA	0.537000													29	94					0	0	0.003610	0	0
COL26A1	136227	broad.mit.edu	37	7	101183184	101183184	+	RNA	SNP	T	T	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:101183184T>G	ENST00000313669.7	+	0	650				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1									p.L153R(1)									GTCCTCCTGCTAGAAGCAGCA	0.622000													14	26					0	0	0.006122	0	0
FAT3	120114	broad.mit.edu	37	11	92088206	92088206	+	Silent	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:92088206C>G	ENST00000298047.6	+	1	2945	c.2928C>G	c.(2926-2928)gtC>gtG	p.V976V	FAT3_ENST00000525166.1_Silent_p.V826V|FAT3_ENST00000409404.2_Silent_p.V976V|FAT3_ENST00000541502.1_Silent_p.V976V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	976	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V976V(2)		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)				ATTCTTTGGTCAATGACTATA	0.443000										TCGA Ovarian(4;0.039)			15	36					0	0	0.004007	0	0
PCDH19	57526	broad.mit.edu	37	X	99662981	99662981	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:99662981G>C	ENST00000373034.4	-	1	2290	c.615C>G	c.(613-615)agC>agG	p.S205R	PCDH19_ENST00000420881.2_Missense_Mutation_p.S205R|PCDH19_ENST00000255531.7_Missense_Mutation_p.S205R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	205	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S205R(1)		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						TGATTCGGAAGCTGTAGTGCG	0.617000													38	72					0	0	0.004878	0	0
SYNM	23336	broad.mit.edu	37	15	99672854	99672854	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr15:99672854C>G	ENST00000336292.6	+	5	4406	c.4286C>G	c.(4285-4287)gCt>gGt	p.A1429G	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1430	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	p.A1429G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TTTGTGCTTGCTGGTTCAGCG	0.512000													123	51					0	0	0.003610	0	0
GABRA3	2556	broad.mit.edu	37	X	151336957	151336957	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:151336957C>A	ENST00000370314.4	-	10	1460	c.1222G>T	c.(1222-1224)Gcc>Tcc	p.A408S	GABRA3_ENST00000535043.1_Missense_Mutation_p.A408S|GABRA3_ENST00000370311.1_Missense_Mutation_p.A408S|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	408					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.A408S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTGTCCTTGGCCAGGTTGATG	0.542000													90	322					1.50328e-30	2.69553e-30	0.003610	1	0
HEG1	57493	broad.mit.edu	37	3	124732515	124732515	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:124732515G>A	ENST00000311127.4	-	6	1975	c.1908C>T	c.(1906-1908)taC>taT	p.Y636Y	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	636	Ser-rich.					extracellular region|integral to membrane	calcium ion binding	p.Y636Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGGTGGGTGTGTAGGACGGAA	0.488000													13	21					0	0	0.001855	0	0
ABCD1	215	broad.mit.edu	37	X	153008744	153008744	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:153008744G>A	ENST00000218104.3	+	9	2334	c.1935G>A	c.(1933-1935)caG>caA	p.Q645Q	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	645	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	p.Q645Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATCTTCCAGGCGGCCAAGG	0.672000													11	11					0	0	0.000978	0	0
F8	2157	broad.mit.edu	37	X	154157135	154157135	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:154157135T>A	ENST00000360256.4	-	14	5130	c.4930A>T	c.(4930-4932)Acc>Tcc	p.T1644S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1644	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.T1644S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTGCCCAGGTGACTTCTATT	0.428000													154	111					0	0	0.003610	0	0
ZNF8	7554	broad.mit.edu	37	19	58806844	58806844	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:58806844G>T	ENST00000196548.5	+	4	1801	c.1670G>T	c.(1669-1671)gGg>gTg	p.G557V	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G557V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CACGTTATTGGGGTGGAAGAG	0.458000													28	16					1.17739e-12	1.56677e-12	0.005443	1	0
ANKHD1	54882	broad.mit.edu	37	5	139864795	139864795	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:139864795C>T	ENST00000297183.6	+	12	2084	c.1960C>T	c.(1960-1962)Ctc>Ttc	p.L654F	ANKHD1_ENST00000360839.2_Missense_Mutation_p.L654F|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L654F	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1									p.L654F(2)|p.L134F(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGAGCTTCTCTTGGCTCA	0.483000													13	45					0	0	0.002450	0	0
PAPLN	89932	broad.mit.edu	37	14	73733266	73733266	+	Silent	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:73733266C>G	ENST00000427855.1	+	24	3423	c.3321C>G	c.(3319-3321)ggC>ggG	p.G1107G	PAPLN_ENST00000340738.5_Silent_p.G1080G|PAPLN_ENST00000555445.1_Silent_p.G1091G|PAPLN_ENST00000554301.1_Silent_p.G1107G|PAPLN_ENST00000381166.3_Intron			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1107	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.G1080G(1)|p.G1107G(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TAGAAGATGGCGGCTTCTACA	0.587000													22	16					0	0	0.010504	0	0
AP2M1	1173	broad.mit.edu	37	3	183894823	183894823	+	Silent	SNP	G	G	C	rs2231214	by1000genomes	TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:183894823G>C	ENST00000382456.3	+	2	356	c.42G>C	c.(40-42)gtG>gtC	p.V14V	AP2M1_ENST00000411763.2_Silent_p.V14V|AP2M1_ENST00000292807.5_Silent_p.V14V|AP2M1_ENST00000439647.1_Silent_p.V14V|EIF2B5_ENST00000444495.1_Intron	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	14					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	p.V14V(1)		endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGGGAGGTGCTCATCTCCC	0.607000													15	19					0	0	0.004007	0	0
MYO18B	84700	broad.mit.edu	37	22	26400716	26400716	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr22:26400716A>T	ENST00000335473.7	+	42	6615	c.6365A>T	c.(6364-6366)gAg>gTg	p.E2122V	MYO18B_ENST00000407587.2_Missense_Mutation_p.E2123V|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2122V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2122						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.E2123V(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCCAGCCAGAGGGCAGCCTG	0.512000													69	19					0	0	0.003610	0	0
KDM5B	10765	broad.mit.edu	37	1	202736142	202736142	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:202736142T>A	ENST00000367265.3	-	5	1787	c.623A>T	c.(622-624)tAc>tTc	p.Y208F	KDM5B_ENST00000367264.2_Missense_Mutation_p.Y208F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	208					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.Y208F(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATGGGGTTTGTACTCCTTGTC	0.473000													40	86					0	0	0.008740	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43886354	43886354	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:43886354C>G	ENST00000389420.3	-	6	1029	c.1030G>C	c.(1030-1032)Gat>Cat	p.D344H	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D344H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	344	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding	p.D344H(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGAACATCATCAAGGTCATTC	0.393000													6	24					0	0	0.001168	0	0
ADH6	130	broad.mit.edu	37	4	100130052	100130052	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:100130052G>T	ENST00000394897.1	-	6	683	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_De_novo_Start_InFrame|ADH6_ENST00000394899.2_Missense_Mutation_p.L201M|ADH6_ENST00000237653.7_Missense_Mutation_p.L201M|ADH6_ENST00000504257.1_5'UTR			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	201					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	p.L201M(2)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ACTCCTCCCAGGCCAAACACA	0.458000													107	121					1.85156e-62	3.65981e-62	0.003610	1	0
LMF1	64788	broad.mit.edu	37	16	929718	929718	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr16:929718G>A	ENST00000262301.11	-	6	767	c.749C>T	c.(748-750)cCt>cTt	p.P250L	LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000399843.2_Missense_Mutation_p.P250L|LMF1_ENST00000543238.1_Missense_Mutation_p.P13L|LMF1_ENST00000568897.1_Missense_Mutation_p.P33L	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	250						endoplasmic reticulum membrane|integral to membrane		p.P250L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GTACGCCACAGGATTGGGCAT	0.652000													4	5					0	0	0.009096	0	0
POM121L12	285877	broad.mit.edu	37	7	53103905	53103905	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:53103905G>T	ENST00000408890.4	+	1	557	c.541G>T	c.(541-543)Gcg>Tcg	p.A181S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	181								p.A181S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCTGCTGGGGGCGCTCAGCCA	0.721000													17	35					9.16793e-09	1.08728e-08	0.004990	1	0
ACACB	32	broad.mit.edu	37	12	109639376	109639376	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:109639376T>C	ENST00000338432.7	+	19	2902	c.2783T>C	c.(2782-2784)aTg>aCg	p.M928T	ACACB_ENST00000377848.3_Missense_Mutation_p.M928T|ACACB_ENST00000377854.5_Missense_Mutation_p.M928T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	928	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.M928T(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AAATAGGTGATGAAGATGATC	0.567000													47	106					0	0	0.003214	0	0
KIF2B	84643	broad.mit.edu	37	17	51901662	51901662	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:51901662C>A	ENST00000268919.4	+	1	1424	c.1268C>A	c.(1267-1269)tCc>tAc	p.S423Y		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	423	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.S423Y(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCTCACTCATCCAGGAGCCAT	0.498000													10	30					6.42651e-13	8.6713e-13	0.000978	1	0
ELMSAN1	91748	broad.mit.edu	37	14	74196470	74196470	+	Silent	SNP	C	C	A	rs149124754		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:74196470C>A	ENST00000286523.5	-	4	2750	c.1968G>T	c.(1966-1968)ccG>ccT	p.P656P	ELMSAN1_ENST00000394071.2_Silent_p.P656P	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1									p.P656P(1)									GGATGGGGGGCGGCGTGTAGG	0.612000													23	8					4.26978e-12	5.5614e-12	0.003330	1	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967468	31967468	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:31967468C>G	ENST00000357886.4	-	9	1101	c.948G>C	c.(946-948)caG>caC	p.Q316H	CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.Q212H|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.Q302H|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.Q302H|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	316					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	p.Q302H(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TATTAACATTCTGACCAAGAA	0.373000													5	52					0	0	0.000602	0	0
GBP5	115362	broad.mit.edu	37	1	89732129	89732129	+	Silent	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:89732129T>C	ENST00000343435.5	-	7	1304	c.768A>G	c.(766-768)ctA>ctG	p.L256L	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Silent_p.L256L|GBP5_ENST00000481145.1_5'UTR	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	256						plasma membrane	GTP binding|GTPase activity	p.L256L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATTCAGGCTCTAGCTCATCAT	0.408000													38	113					0	0	0.007835	0	0
FAT3	120114	broad.mit.edu	37	11	92088025	92088025	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:92088025T>C	ENST00000298047.6	+	1	2764	c.2747T>C	c.(2746-2748)cTg>cCg	p.L916P	FAT3_ENST00000525166.1_Missense_Mutation_p.L766P|FAT3_ENST00000409404.2_Missense_Mutation_p.L916P|FAT3_ENST00000541502.1_Missense_Mutation_p.L916P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	916	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.L916P(2)		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)				GGTCAGCAGCTGTTTTCAGTT	0.433000										TCGA Ovarian(4;0.039)			59	82					0	0	0.003610	0	0
FCRLA	84824	broad.mit.edu	37	1	161682007	161682007	+	Splice_Site	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:161682007G>T	ENST00000367959.2	+	5	1094	c.853_splice	c.e5+1	p.Q284_splice	FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367953.3_Splice_Site_p.Q267_splice|FCRLA_ENST00000546024.1_Splice_Site_p.Q189_splice|FCRLA_ENST00000367957.2_Splice_Site_p.Q138_splice|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Splice_Site_p.Q172_splice|FCRLA_ENST00000294796.4_Splice_Site_p.Q127_splice|FCRLA_ENST00000236938.6_Splice_Site_p.Q278_splice|FCRLA_ENST00000540926.1_Splice_Site_p.Q267_splice|FCRLA_ENST00000540521.1_Splice_Site_p.Q144_splice|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000367950.1_Intron	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	261	Pro-rich.				cell differentiation	cytoplasm|extracellular region		p.Q284H(1)|p.Q261H(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TCAGAGTGCAGGGTGAGTTCG	0.527000													21	31					1.36565e-18	2.10291e-18	0.002780	1	0
FRG1	2483	broad.mit.edu	37	4	190878635	190878635	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:190878635C>A	ENST00000226798.4	+	6	737	c.515C>A	c.(514-516)gCa>gAa	p.A172E	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	172					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.A172E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGTAAAACAGCAGGAGAAGAA	0.363000													4	61					0.00307968	0.00320287	0.003080	1	0
HRH3	11255	broad.mit.edu	37	20	60791902	60791902	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:60791902C>A	ENST00000340177.5	-	3	782	c.498G>T	c.(496-498)ctG>ctT	p.L166L	HRH3_ENST00000317393.6_Silent_p.L166L	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	166					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	p.L166L(1)		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)	CTGGTCCGTACAGCAGGAAGG	0.637000													16	23					6.49762e-13	8.74978e-13	0.006122	1	0
TTN	7273	broad.mit.edu	37	2	179433110	179433110	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:179433110A>G	ENST00000589042.1	-	326	77973	c.77749T>C	c.(77749-77751)Tat>Cat	p.Y25917H	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y16852H|TTN_ENST00000591111.1_Missense_Mutation_p.Y24276H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y17044H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y23349H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y16977H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24276	Fibronectin type-III 88.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Y16852H(1)|p.Y23349H(1)|p.Y23347H(1)|p.Y16977H(1)|p.Y17044H(1)		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)			CCCCCTGTATATAATGGAGGG	0.398000													17	24					0	0	0.004007	0	0
OTOP1	133060	broad.mit.edu	37	4	4190646	4190646	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:4190646C>G	ENST00000296358.4	-	6	1747	c.1723G>C	c.(1723-1725)Gag>Cag	p.E575Q		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	575					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGACAATCTCCTCCAATCCA	0.493000													3	97					0	0	0.000602	0	0
G3BP1	10146	broad.mit.edu	37	5	151166233	151166233	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:151166233C>T	ENST00000394123.3	+	2	197	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	G3BP1_ENST00000356245.3_Nonsense_Mutation_p.Q18*|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	18	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	p.Q18*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			ATTTGTGAGACAGTATTACAC	0.463000													69	28					0	0	0.003610	0	0
UBE2A	7319	broad.mit.edu	37	X	118708874	118708874	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:118708874G>T	ENST00000371558.2	+	2	229	c.55G>T	c.(55-57)Gat>Tat	p.D19Y	UBE2A_ENST00000346330.3_Missense_Mutation_p.D19Y|UBE2A_ENST00000469205.1_3'UTR	NM_003336.2|NM_181762.1	NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	19					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	p.D19Y(2)		haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						GTTGCAGGAGGATCCTCCAGC	0.692000								Rad6 pathway					23	33					3.6726e-16	5.40889e-16	0.003954	1	0
C9	735	broad.mit.edu	37	5	39311461	39311461	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:39311461C>A	ENST00000263408.4	-	7	984	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	297	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.V297L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTCCTTTCACATGCAGAAAC	0.343000													88	56					8.03987e-26	1.38294e-25	0.003610	1	0
ABCG5	64240	broad.mit.edu	37	2	44064972	44064972	+	Splice_Site	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:44064972C>A	ENST00000543989.1	-	1	917		c.e1+1		ABCG5_ENST00000260645.1_Splice_Site|ABCG5_ENST00000405322.1_Splice_Site			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5						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	p.?(1)		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)				CCCAAGCTTACCTGAGCTTCC	0.458000													39	68					3.68427e-32	6.71311e-32	0.002522	1	0
ANKRD55	79722	broad.mit.edu	37	5	55471986	55471986	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:55471986G>T	ENST00000341048.4	-	4	456	c.305C>A	c.(304-306)aCc>aAc	p.T102N	ANKRD55_ENST00000513241.2_Missense_Mutation_p.T73N|ANKRD55_ENST00000504958.2_Missense_Mutation_p.T102N	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	101								p.T102N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TACCAGGTAGGTGGCCAGGCA	0.522000													31	92					9.78306e-22	1.58975e-21	0.009535	1	0
PRRC2C	23215	broad.mit.edu	37	1	171504659	171504659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:171504659C>T	ENST00000367742.3	+	13	2208	c.1966C>T	c.(1966-1968)Caa>Taa	p.Q656*	PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.Q654*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.Q656*|PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.Q654*			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	654							protein C-terminus binding	p.Q656*(2)									ATCAGGGTCTCAACCTCGGCC	0.453000													52	92					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9049773	9049773	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:9049773T>G	ENST00000397910.4	-	5	32061	c.31858A>C	c.(31858-31860)Agt>Cgt	p.S10620R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10622	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6253R(1)|p.S10620R(1)		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						TCTAATTCACTGTGGAAAAAA	0.463000													37	21					0	0	0.005524	0	0
SUV39H1	6839	broad.mit.edu	37	X	48558670	48558670	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:48558670G>A	ENST00000453214.2	+	3	381	c.166G>A	c.(166-168)Ggt>Agt	p.G56S	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Silent_p.L129L|SUV39H1_ENST00000376687.3_Silent_p.L118L			O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	0	Chromo.|Interaction with SIRT1.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	p.L118L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CCAACTACCTGGTGCAGAAGG	0.622000													3	16					0	0	0.000602	0	0
CBS	875	broad.mit.edu	37	21	44483093	44483093	+	Silent	SNP	G	G	A	rs149809170		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr21:44483093G>A	ENST00000398165.3	-	10	1183	c.924C>T	c.(922-924)taC>taT	p.Y308Y	CBS_ENST00000544202.1_Silent_p.Y220Y|CBS_ENST00000359624.3_Silent_p.Y308Y|CBS_ENST00000352178.5_Silent_p.Y308Y|CBS_ENST00000398158.1_Silent_p.Y308Y|CBS_ENST00000398168.1_Silent_p.Y308Y	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	308					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	p.Y308Y(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GGATGAAGTCGTAGCCGATCC	0.627000													55	65					0	0	0.003610	0	0
RTP1	132112	broad.mit.edu	37	3	186915369	186915369	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:186915369C>A	ENST00000312295.4	+	1	96	c.66C>A	c.(64-66)ttC>ttA	p.F22L	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	22					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.F22L(1)		breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TCTCCGTGTTCTCACTAAGGT	0.527000													39	66					1.62957e-23	2.68681e-23	0.008740	1	0
FAM135B	51059	broad.mit.edu	37	8	139151240	139151240	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:139151240C>A	ENST00000395297.1	-	18	4060	c.3890G>T	c.(3889-3891)aGc>aTc	p.S1297I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1297								p.S1297I(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTTTTTTGGCTTAGTTGGTA	0.443000										HNSCC(54;0.14)			22	21					5.35356e-11	6.75188e-11	0.002780	1	0
RNF112	7732	broad.mit.edu	37	17	19318159	19318159	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:19318159C>T	ENST00000461366.1	+	10	1300	c.1085C>T	c.(1084-1086)cCa>cTa	p.P362L		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	362							GTP binding|GTPase activity|zinc ion binding	p.P362L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						TTGCCTGCCCCAGGGAGGCGG	0.632000													14	13					0	0	0.004007	0	0
EXOC4	60412	broad.mit.edu	37	7	133692564	133692564	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:133692564G>A	ENST00000253861.4	+	17	2692	c.2663G>A	c.(2662-2664)cGg>cAg	p.R888Q	EXOC4_ENST00000541309.1_Missense_Mutation_p.R176Q|EXOC4_ENST00000545148.1_Missense_Mutation_p.R498Q|EXOC4_ENST00000539845.1_Missense_Mutation_p.R787Q	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	888					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	p.R888Q(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACCATGTCGCGGGAGGCAGAC	0.448000													8	30					0	0	0.006214	0	0
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:7577124C>T	ENST00000420246.2	-	8	946	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000269305.4_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (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.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		CAAACACGCACCTCAAAGCTG	0.527000		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)			8	8					0	0	0.003080	0	0
EDC4	23644	broad.mit.edu	37	16	67913196	67913196	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr16:67913196T>C	ENST00000358933.5	+	13	1764	c.1525T>C	c.(1525-1527)Ttt>Ctt	p.F509L	EDC4_ENST00000574770.1_Intron	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	509					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.F509L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CATCAAGCTCTTTTGTGTGCA	0.562000													52	24					0	0	0.003610	0	0
TEP1	7011	broad.mit.edu	37	14	20871902	20871902	+	Missense_Mutation	SNP	G	G	A	rs141943004		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:20871902G>A	ENST00000262715.5	-	6	1214	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	392	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.R392C(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGTGGCCGGCGGGGGTGTCTC	0.627000													50	55					0	0	0.003610	0	0
GREB1	9687	broad.mit.edu	37	2	11728879	11728879	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:11728879G>T	ENST00000381486.2	+	10	1467	c.1167G>T	c.(1165-1167)ggG>ggT	p.G389G	GREB1_ENST00000381483.2_Silent_p.G389G|GREB1_ENST00000234142.5_Silent_p.G389G	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	389						integral to membrane		p.G389G(2)		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)		CAGGCCATGGGAACTTCCCTT	0.572000													29	40					4.39465e-27	7.61739e-27	0.002836	1	0
MAU2	23383	broad.mit.edu	37	19	19449669	19449669	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:19449669G>C	ENST00000392313.5	+	5	518	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	MAU2_ENST00000262815.8_Missense_Mutation_p.E158Q	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	158					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	p.E158Q(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GCACACGCTTGAGAAGGACCT	0.557000													6	14					0	0	0.001168	0	0
TRHDE	29953	broad.mit.edu	37	12	72680536	72680536	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:72680536G>T	ENST00000261180.4	+	2	951	c.855G>T	c.(853-855)aaG>aaT	p.K285N		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	285					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.K285N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAATCTACAAGGCTACTTTCA	0.398000													59	117					2.44813e-32	4.49712e-32	0.003610	1	0
UGT2B17	7367	broad.mit.edu	37	4	69416547	69416547	+	Silent	SNP	A	A	G	rs147227030		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:69416547A>G	ENST00000317746.2	-	5	1203	c.1161T>C	c.(1159-1161)caT>caC	p.H387H		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	387					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.H387H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TAGGGATCCCATGGTAGATTG	0.438000													79	198					0	0	0.003610	0	0
FMR1	2332	broad.mit.edu	37	X	147030276	147030276	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:147030276G>T	ENST00000218200.8	+	16	1977	c.1748G>T	c.(1747-1749)cGg>cTg	p.R583L	FMR1_ENST00000440235.2_Missense_Mutation_p.R234L|FMR1_ENST00000370471.3_Missense_Mutation_p.G514C|FMR1_ENST00000370470.1_Missense_Mutation_p.R562L|FMR1_ENST00000370475.4_Missense_Mutation_p.R604L|FMR1_ENST00000370477.1_Missense_Mutation_p.R554L|FMR1_ENST00000439526.2_Missense_Mutation_p.R564L	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	604	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	p.R604L(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGTAGTCGGCTGCGCACG	0.428000									Fragile X syndrome				32	55					4.74835e-14	6.61832e-14	0.002096	1	0
TNS1	7145	broad.mit.edu	37	2	218675013	218675013	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:218675013C>A	ENST00000171887.4	-	29	5202	c.4750G>T	c.(4750-4752)Ggc>Tgc	p.G1584C	TNS1_ENST00000430930.1_Missense_Mutation_p.G1563C|TNS1_ENST00000419504.1_Missense_Mutation_p.G1570C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1584						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.G1584C(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTGGCAGGGCCGGAGCTATCT	0.517000													23	20					1.42536e-11	1.83882e-11	0.004656	1	0
CST8	10047	broad.mit.edu	37	20	23472318	23472318	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:23472318G>A	ENST00000246012.1	+	2	371	c.14G>A	c.(13-15)cGg>cAg	p.R5Q		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	5						extracellular region	cysteine-type endopeptidase inhibitor activity	p.R5Q(2)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CCCAGGTGCCGGTGGCTCTCC	0.607000													43	82					0	0	0.009718	0	0
KYNU	8942	broad.mit.edu	37	2	143712385	143712385	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:143712385A>G	ENST00000264170.4	+	5	638	c.380A>G	c.(379-381)aAt>aGt	p.N127S	KYNU_ENST00000375773.2_Missense_Mutation_p.N127S|KYNU_ENST00000409512.1_Missense_Mutation_p.N127S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	127					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.N127S(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ACAGGAGCCAATGAGAAAGAA	0.299000													24	54					0	0	0.002780	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995442	140995442	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:140995442C>T	ENST00000285879.4	+	4	2538	c.2252C>T	c.(2251-2253)aCt>aTt	p.T751I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	751							protein binding	p.T751I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCCACTTCTTTGAGT	0.562000										HNSCC(15;0.026)			120	240					0	0	0.003610	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351666	89351666	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr16:89351666G>A	ENST00000301030.4	-	9	1744	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	ANKRD11_ENST00000378330.2_Silent_p.L428L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	428						nucleus		p.L428L(1)		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)		TATGTGCCGAGAGTCTCAGCT	0.488000													16	33					0	0	0.006122	0	0
NELL1	4745	broad.mit.edu	37	11	21581860	21581860	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:21581860G>T	ENST00000298925.5	+	18	2149	c.1996G>T	c.(1996-1998)Ggg>Tgg	p.G666W	NELL1_ENST00000325319.5_Missense_Mutation_p.G581W|NELL1_ENST00000532434.1_Missense_Mutation_p.G591W|NELL1_ENST00000529218.1_Intron|NELL1_ENST00000357134.5_Missense_Mutation_p.G638W			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	638	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.G638W(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCCTCATGAAGGGGGGCTGAA	0.557000													21	20					2.4624e-09	2.97778e-09	0.008871	1	0
IGSF10	285313	broad.mit.edu	37	3	151166651	151166651	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:151166651G>T	ENST00000282466.3	-	4	1117	c.1118C>A	c.(1117-1119)cCa>cAa	p.P373Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	373					cell differentiation|multicellular organismal development|ossification	extracellular region		p.P373Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGCCACACTGGCTGAATGTG	0.388000													27	32					4.87955e-14	6.77326e-14	0.005443	1	0
WIBG	84305	broad.mit.edu	37	12	56295911	56295911	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:56295911C>G	ENST00000408946.2	-	3	511	c.360G>C	c.(358-360)gaG>gaC	p.E120D	WIBG_ENST00000398213.4_Missense_Mutation_p.E119D|WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000547925.1_3'UTR	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	120					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding	p.E120D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GTTGGGCTGTCTCTTCCAGGG	0.582000													44	91					0	0	0.002522	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629953	9629953	+	Nonsense_Mutation	SNP	G	G	C	rs139834398		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:9629953G>C	ENST00000382492.2	-	1	510	c.192C>G	c.(190-192)taC>taG	p.Y64*	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	64					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.Y64*(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TCACATTAACGTAGAAGATGA	0.368000													25	103					0	0	0.004656	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262933	140262933	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:140262933A>T	ENST00000289272.2	+	1	1080	c.1080A>T	c.(1078-1080)agA>agT	p.R360S	PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R360S|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.R360S(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCATCAGAGAAGACACTC	0.498000													74	23					0	0	0.003610	0	0
MRPS2	51116	broad.mit.edu	37	9	138395820	138395820	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr9:138395820G>T	ENST00000371785.1	+	5	941	c.732G>T	c.(730-732)ctG>ctT	p.L244L	MRPS2_ENST00000241600.5_Silent_p.L244L|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	244					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	p.L244L(1)		large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ACTCTCCGCTGGCTGTGCACC	0.617000													22	14					2.98393e-07	3.44221e-07	0.002780	1	0
PIK3R5	23533	broad.mit.edu	37	17	8791869	8791869	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:8791869C>A	ENST00000447110.1	-	10	1359	c.1235G>T	c.(1234-1236)cGa>cTa	p.R412L	PIK3R5_ENST00000584803.1_Missense_Mutation_p.R412L|PIK3R5_ENST00000581552.1_Missense_Mutation_p.R412L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	412					platelet activation	cytosol|membrane|nucleus		p.R412L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCGGTGGCCTCGGCGTTCCTG	0.622000													5	5					0.000602214	0.000635097	0.000602	1	0
C6	729	broad.mit.edu	37	5	41195923	41195923	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:41195923G>T	ENST00000263413.3	-	5	822	c.558C>A	c.(556-558)ccC>ccA	p.P186P	C6_ENST00000337836.5_Silent_p.P186P	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	186	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.P186P(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACTAGGGATGGGATTATACT	0.433000													158	113					1.11308e-80	2.23941e-80	0.003610	1	0
HS6ST2	90161	broad.mit.edu	37	X	131762609	131762609	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:131762609A>G	ENST00000370836.2	-	4	1875	c.1460T>C	c.(1459-1461)tTg>tCg	p.L487S	HS6ST2_ENST00000406696.3_Missense_Mutation_p.L213S|HS6ST2_ENST00000521489.1_Missense_Mutation_p.L527S|HS6ST2_ENST00000370833.2_Missense_Mutation_p.L381S|HS6ST2_ENST00000370837.1_Missense_Mutation_p.L341S	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	487						integral to membrane	sulfotransferase activity	p.L341S(1)|p.L527S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATAGCTGTACAACTCCATATC	0.433000													105	185					0	0	0.003610	0	0
PTPRD	5789	broad.mit.edu	37	9	8340349	8340349	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr9:8340349C>T	ENST00000381196.4	-	39	5790	c.5247G>A	c.(5245-5247)atG>atA	p.M1749I	PTPRD_ENST00000356435.5_Missense_Mutation_p.M1749I|PTPRD_ENST00000355233.5_Missense_Mutation_p.M1343I|PTPRD_ENST00000397606.3_Missense_Mutation_p.M1342I|PTPRD_ENST00000397611.3_Missense_Mutation_p.M1339I|PTPRD_ENST00000397617.3_Missense_Mutation_p.M1342I|PTPRD_ENST00000360074.4_Missense_Mutation_p.M1736I|PTPRD_ENST00000540109.1_Missense_Mutation_p.M1749I|PTPRD_ENST00000537002.1_Missense_Mutation_p.M1339I|PTPRD_ENST00000358503.5_Missense_Mutation_p.M1727I|PTPRD_ENST00000486161.1_Missense_Mutation_p.M1342I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1749	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.M1749_G1750>IC(2)|p.M1343_G1344>IC(1)|p.M1220_G1221>IC(1)		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)		TTACTCTGCCCATTTCACGCA	0.473000										TSP Lung(15;0.13)			47	35					0	0	0.003610	0	0
OR52L1	338751	broad.mit.edu	37	11	6007393	6007393	+	Silent	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:6007393A>G	ENST00000332249.4	-	1	822	c.768T>C	c.(766-768)ttT>ttC	p.F256F		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F241F(1)|p.F256F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACATGTGCTAAACGCCTTAA	0.507000													36	34					0	0	0.004878	0	0
BANP	54971	broad.mit.edu	37	16	88017823	88017823	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr16:88017823G>T	ENST00000393207.1	+	4	517	c.296G>T	c.(295-297)gGc>gTc	p.G99V	BANP_ENST00000538234.1_Missense_Mutation_p.G107V|BANP_ENST00000479780.2_Missense_Mutation_p.G107V|BANP_ENST00000355022.4_Missense_Mutation_p.G107V|BANP_ENST00000286122.7_Missense_Mutation_p.G99V|BANP_ENST00000355163.5_Missense_Mutation_p.G113V|BANP_ENST00000393208.2_Missense_Mutation_p.G107V	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	99					cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G99V(1)|p.G107V(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ATGGTGGCCGGCTCCCCTCTC	0.577000													15	10					4.7546e-09	5.71906e-09	0.004007	1	0
HTR4	3360	broad.mit.edu	37	5	147889330	147889330	+	Silent	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:147889330G>C	ENST00000360693.3	-	6	903	c.765C>G	c.(763-765)acC>acG	p.T255T	HTR4_ENST00000377888.3_Silent_p.T255T|HTR4_ENST00000517929.1_Silent_p.T255T|HTR4_ENST00000314512.6_Silent_p.T255T|HTR4_ENST00000521735.1_Silent_p.T255T|HTR4_ENST00000362016.2_Silent_p.T269T|HTR4_ENST00000521530.1_Silent_p.T255T|HTR4_ENST00000520514.1_Silent_p.T255T|HTR4_ENST00000354217.2_Silent_p.T255T	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	255					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	p.T255T(2)|p.T269T(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TGGCTGCTTTGGTCTCTGTCC	0.532000													38	13					0	0	0.007835	0	0
RELN	5649	broad.mit.edu	37	7	103183200	103183200	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:103183200C>T	ENST00000424685.2	-	43	6808	c.6649G>A	c.(6649-6651)Gac>Aac	p.D2217N	RELN_ENST00000343529.5_Missense_Mutation_p.D2217N|RELN_ENST00000428762.1_Missense_Mutation_p.D2217N			P78509	RELN_HUMAN	reelin	2217					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	p.D2217N(1)		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)		AAATCCAGGTCTCGTGTCATC	0.378000													47	73					0	0	0.003610	0	0
TECTA	7007	broad.mit.edu	37	11	120983879	120983879	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:120983879C>A	ENST00000392793.1	+	5	856	c.585C>A	c.(583-585)ggC>ggA	p.G195G	TECTA_ENST00000264037.2_Silent_p.G195G			O75443	TECTA_HUMAN	tectorin alpha	195	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.G195G(1)	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)		CGGCGAGTGGCGGCGACCCCC	0.577000											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	34					5.01169e-05	5.40336e-05	0.004990	1	0
CACNA1I	8911	broad.mit.edu	37	22	40043907	40043907	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr22:40043907C>A	ENST00000336649.4	+	11	1543	c.1543C>A	c.(1543-1545)Cct>Act	p.P515T	CACNA1I_ENST00000401624.1_Missense_Mutation_p.P515T|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000407673.1_Intron|CACNA1I_ENST00000404898.1_Intron|CACNA1I_ENST00000402142.3_Missense_Mutation_p.P515T			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	515					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.P515T(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCCTGCCTCCCCTGGAAATGA	0.572000													10	46					7.48243e-07	8.54412e-07	0.006214	1	0
PEG3	5178	broad.mit.edu	37	19	57335710	57335710	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:57335710C>A	ENST00000326441.9	-	4	677	c.314G>T	c.(313-315)tGg>tTg	p.W105L	PEG3_ENST00000423103.2_Missense_Mutation_p.W105L|ZIM2_ENST00000221722.5_5'UTR|PEG3_ENST00000598410.1_5'UTR|PEG3_ENST00000593695.1_5'UTR|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000594706.1_5'UTR|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000601070.1_5'UTR|ZIM2_ENST00000593711.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	105	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W105L(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGCTCGCACCCAAGGCTTGAG	0.542000													39	19					4.32679e-17	6.48539e-17	0.006999	1	0
BAIAP2L1	55971	broad.mit.edu	37	7	97933593	97933593	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:97933593C>A	ENST00000005260.8	-	12	1552	c.1337G>T	c.(1336-1338)gGg>gTg	p.G446V		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	446					filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	p.G446V(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GGCAGCTGCCCCCATGGACAA	0.587000													9	13					2.17888e-05	2.38723e-05	0.006214	1	0
KLRD1	3824	broad.mit.edu	37	12	10466042	10466042	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:10466042A>T	ENST00000381908.3	+	5	612	c.352A>T	c.(352-354)Att>Ttt	p.I118F	KLRD1_ENST00000381907.4_Missense_Mutation_p.I117F|KLRD1_ENST00000543420.1_Intron|KLRD1_ENST00000336164.4_Missense_Mutation_p.I117F|KLRD1_ENST00000543777.1_Missense_Mutation_p.I96F|KLRD1_ENST00000350274.5_Missense_Mutation_p.I86F			Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	117	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	p.I117F(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						ATTTTACTGGATTGGACTCTC	0.398000													76	55					0	0	0.003610	0	0
RNF217	154214	broad.mit.edu	37	6	125366429	125366429	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:125366429G>T	ENST00000521654.2	+	2	955	c.955G>T	c.(955-957)Gtc>Ttc	p.V319F	RNF217_ENST00000359704.2_Missense_Mutation_p.V27F|RNF217_ENST00000454842.2_3'UTR|RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000560949.1_Missense_Mutation_p.V84F			Q8TC41	RN217_HUMAN	ring finger protein 217	27					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	p.V319F(1)|p.V27F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AACAACTGTTGTCTATAACTT	0.428000													24	40					7.87624e-14	1.08882e-13	0.002780	1	0
MAPKBP1	23005	broad.mit.edu	37	15	42105978	42105978	+	Splice_Site	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr15:42105978A>T	ENST00000457542.2	+	9	1265	c.980_splice	c.e9+1	p.S327_splice	MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000514566.1_Splice_Site_p.S327_splice|MAPKBP1_ENST00000456763.2_Splice_Site_p.S333_splice|MAPKBP1_ENST00000260357.7_Splice_Site_p.S215_splice	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	333								p.S327C(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CACCGAGGCCAGGTGAGCTAT	0.582000													48	22					0	0	0.003610	0	0
DTX1	1840	broad.mit.edu	37	12	113534584	113534584	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:113534584C>A	ENST00000257600.3	+	9	2206	c.1703C>A	c.(1702-1704)aCc>aAc	p.T568N	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	568					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.T568K(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ACGTCCAACACCACGGGCGAG	0.632000													8	16					3.07112e-06	3.4717e-06	0.000978	1	0
ATP8A2	51761	broad.mit.edu	37	13	26273380	26273380	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr13:26273380G>T	ENST00000381655.2	+	25	2423	c.2281G>T	c.(2281-2283)Gcc>Tcc	p.A761S	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.A721S	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	721					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.A761S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AAATGACGTGGCCCTGATCAT	0.522000													30	44					2.85442e-18	4.36558e-18	0.002096	1	0
ATP1A1	476	broad.mit.edu	37	1	116941357	116941357	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:116941357G>C	ENST00000537345.1	+	16	2602	c.2239G>C	c.(2239-2241)Gac>Cac	p.D747H	ATP1A1_ENST00000295598.5_Missense_Mutation_p.D747H|ATP1A1_ENST00000369496.4_Missense_Mutation_p.D716H	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	747					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	p.D747N(1)|p.D747H(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GCAAGCTGCTGACATGATTCT	0.463000													51	53					0	0	0.003610	0	0
POLR3B	55703	broad.mit.edu	37	12	106804616	106804616	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:106804616A>G	ENST00000228347.4	+	12	1201	c.979A>G	c.(979-981)Aat>Gat	p.N327D	POLR3B_ENST00000539066.1_Missense_Mutation_p.N269D|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	327					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.N327D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TAAGGAATTCAATTTCCGAGC	0.333000													24	47					0	0	0.003954	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563213	129563213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:129563213C>A	ENST00000422113.2	-	8	2307	c.1981G>T	c.(1981-1983)Gag>Tag	p.E661*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.E199*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	661						integral to membrane		p.E661*(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTCACCTTCTCGTCCAGCACA	0.567000													45	63					2.61675e-31	4.71714e-31	0.003214	1	0
SND1	27044	broad.mit.edu	37	7	127528055	127528055	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:127528055G>A	ENST00000354725.3	+	13	1638	c.1444G>A	c.(1444-1446)Gca>Aca	p.A482T		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	482	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	p.A482T(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ACTGCTTGCTGCAGAGGCCAG	0.468000													10	22					0	0	0.000978	0	0
DNAI2	64446	broad.mit.edu	37	17	72281270	72281270	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:72281270A>T	ENST00000579490.1	+	2	581	c.446A>T	c.(445-447)cAg>cTg	p.Q149L	DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000446837.2_Missense_Mutation_p.Q92L|DNAI2_ENST00000311014.6_Missense_Mutation_p.Q92L|DNAI2_ENST00000582036.1_Missense_Mutation_p.Q92L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	92					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.Q92L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAGCTGGAGCAGACCATCCGT	0.567000									Kartagener syndrome				17	43					0	0	0.004007	0	0
FAM78B	149297	broad.mit.edu	37	1	166039616	166039616	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:166039616C>A	ENST00000338353.3	-	3	1237	c.648G>T	c.(646-648)caG>caT	p.Q216H	FAM78B_ENST00000354422.3_Missense_Mutation_p.Q216H			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	216								p.Q216H(1)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GCTGCTCCTGCTGAGTCCTGC	0.597000													25	39					3.6726e-16	5.40889e-16	0.003954	1	0
USP11	8237	broad.mit.edu	37	X	47092494	47092494	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:47092494G>T	ENST00000377107.2	+	1	406	c.52G>T	c.(52-54)Gca>Tca	p.A18S	USP11_ENST00000218348.3_Missense_Mutation_p.A61S			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	61					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.A61S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						tgtggcggcggcagcggcggt	0.642000													6	6					0.00198382	0.00206954	0.001984	1	0
POC1A	25886	broad.mit.edu	37	3	52183986	52183986	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:52183986A>C	ENST00000394970.2	-	3	438	c.121T>G	c.(121-123)Tca>Gca	p.S41A	POC1A_ENST00000474012.1_Missense_Mutation_p.S3A|POC1A_ENST00000296484.2_Missense_Mutation_p.S41A	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	41						centriole|microtubule basal body		p.S41A(1)		endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						ATGAGGCATGAGTCCATGGAG	0.577000													10	6					0	0	0.001368	0	0
CNTRL	11064	broad.mit.edu	37	9	123920368	123920368	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr9:123920368T>C	ENST00000373855.1	+	30	5005	c.4745T>C	c.(4744-4746)cTg>cCg	p.L1582P	CNTRL_ENST00000238341.5_Missense_Mutation_p.L1582P|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.L1030P|CNTRL_ENST00000373844.1_Missense_Mutation_p.L27P|CNTRL_ENST00000373847.1_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1582					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.L1582P(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGAGCCGAGCTGGAAAAGCTG	0.398000													16	11					0	0	0.004007	0	0
TUBB8	347688	broad.mit.edu	37	10	93853	93853	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:93853G>T	ENST00000447903.2	-	4	578	c.263C>A	c.(262-264)cCa>cAa	p.P88Q	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.P160Q			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	160					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.P160Q(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GATCCTGTCTGGGTACTCCTC	0.597000													41	78					8.04919e-23	1.31749e-22	0.003610	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95442627	95442627	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:95442627G>T	ENST00000324972.6	+	4	536	c.343G>T	c.(343-345)Ggc>Tgc	p.G115C	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.G115C|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.G98C|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.G98C|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.G98C|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.G98C|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.G98C	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	115	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.G115S(1)|p.G115C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCAAGACTCAGGCGATCTGGG	0.423000													36	36					1.90571e-15	2.75269e-15	0.004289	1	0
NR4A2	4929	broad.mit.edu	37	2	157183331	157183331	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:157183331C>A	ENST00000339562.4	-	6	1622	c.1260G>T	c.(1258-1260)tgG>tgT	p.W420C	NR4A2_ENST00000426264.1_Missense_Mutation_p.W357C|NR4A2_ENST00000539077.1_Missense_Mutation_p.W431C|NR4A2_ENST00000409572.1_Missense_Mutation_p.W420C|NR4A2_ENST00000409108.2_Missense_Mutation_p.W420C|NR4A2_ENST00000429376.1_Missense_Mutation_p.W357C	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	420	Ligand-binding (Potential).				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.W420C(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TCTTCTCTGCCCAGCCCCGGA	0.502000													74	116					1.24833e-42	2.39058e-42	0.003610	1	0
SNHG14	104472715	broad.mit.edu	37	15	25415759	25415759	+	RNA	SNP	G	G	T	rs2714734	by1000genomes	TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr15:25415759G>T	ENST00000549301.1	+	0	273				SNHG14_ENST00000553149.1_RNA																							GCCAGCCCCCGGTGCGCTGAA	0.652000													11	9					1.08611e-07	1.26588e-07	0.000978	1	0
PAK3	5063	broad.mit.edu	37	X	110439861	110439861	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:110439861C>A	ENST00000519681.1	+	17	1905	c.1463C>A	c.(1462-1464)cCa>cAa	p.P488Q	PAK3_ENST00000262836.4_Missense_Mutation_p.P482Q|PAK3_ENST00000518291.1_Missense_Mutation_p.P503Q|PAK3_ENST00000446737.1_Missense_Mutation_p.P467Q|PAK3_ENST00000425146.1_Missense_Mutation_p.P467Q|PAK3_ENST00000372007.4_Missense_Mutation_p.P467Q|PAK3_ENST00000372010.1_Missense_Mutation_p.P482Q|PAK3_ENST00000417227.1_Missense_Mutation_p.P488Q|PAK3_ENST00000360648.4_Missense_Mutation_p.P503Q			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	482	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.P467Q(1)|p.P503Q(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AATGAAAATCCACTCAGGGTA	0.433000										TSP Lung(19;0.15)			39	89					7.53189e-24	1.26029e-23	0.007835	1	0
ZNF479	90827	broad.mit.edu	37	7	57187552	57187552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:57187552C>A	ENST00000331162.4	-	5	1840	c.1570G>T	c.(1570-1572)Gaa>Taa	p.E524*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E524*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCATATTATTCACATTTGTAG	0.358000													15	21					2.32078e-09	2.82676e-09	0.003163	1	0
MAP4K1	11184	broad.mit.edu	37	19	39086175	39086175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:39086175G>A	ENST00000591517.1	-	29	2318	c.2290C>T	c.(2290-2292)Cag>Tag	p.Q764*	MAP4K1_ENST00000586296.1_Nonsense_Mutation_p.Q338*|MAP4K1_ENST00000589130.1_Nonsense_Mutation_p.Q760*|MAP4K1_ENST00000396857.2_Nonsense_Mutation_p.Q764*	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	764	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	p.Q764*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGAAGGCCTGAAGCTGACCT	0.587000													7	15					0	0	0.001984	0	0
MORC1	27136	broad.mit.edu	37	3	108833273	108833273	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:108833273C>A	ENST00000232603.5	-	2	159	c.77G>T	c.(76-78)aGt>aTt	p.S26I	MORC1_ENST00000483760.1_Missense_Mutation_p.S26I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	26					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.S26I(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AAAAAGGAAACTGTGAGTGGT	0.373000													10	21					2.68362e-12	3.52258e-12	0.001368	1	0
DSG3	1830	broad.mit.edu	37	18	29046559	29046559	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr18:29046559C>A	ENST00000257189.4	+	11	1561	c.1478C>A	c.(1477-1479)cCa>cAa	p.P493Q		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	493	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.P493Q(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACAATTGTCCAACAGCTGTC	0.398000													63	45					1.77791e-30	3.17955e-30	0.003610	1	0
UBE3C	9690	broad.mit.edu	37	7	156974295	156974295	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:156974295G>T	ENST00000348165.5	+	7	1060	c.700G>T	c.(700-702)Gca>Tca	p.A234S	UBE3C_ENST00000389103.4_Missense_Mutation_p.A191S	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	234					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.A234S(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AGTTCCTATAGCAAAAATTTT	0.348000													38	74					3.21399e-22	5.24797e-22	0.004878	1	0
OR6Q1	219952	broad.mit.edu	37	11	57799282	57799282	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:57799282G>T	ENST00000302622.3	+	1	881	c.858G>T	c.(856-858)acG>acT	p.T286T	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T286T(2)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CTGTTGTCACGCCCATGCTCA	0.473000													30	35					1.68575e-08	1.98878e-08	0.007291	1	0
OR10K1	391109	broad.mit.edu	37	1	158435355	158435355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:158435355G>T	ENST00000289451.2	+	1	84	c.4G>T	c.(4-6)Gag>Tag	p.E2*		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E2*(1)		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)					GCTCTCCATGGAGCAAGTCAA	0.493000													8	20					1.12685e-05	1.24877e-05	0.004482	1	0
MYH13	8735	broad.mit.edu	37	17	10265460	10265460	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:10265460G>T	ENST00000418404.3	-	4	643	c.480C>A	c.(478-480)gaC>gaA	p.D160E	MYH13_ENST00000570743.1_Missense_Mutation_p.D160E|MYH13_ENST00000252172.4_Missense_Mutation_p.D160E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	160	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.D160E(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GATAGGCATTGTCAGAGATGG	0.498000													60	37					2.6465e-34	4.92847e-34	0.003610	1	0
ASCC3	10973	broad.mit.edu	37	6	101166053	101166053	+	Silent	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:101166053T>A	ENST00000369162.2	-	12	2321	c.1977A>T	c.(1975-1977)acA>acT	p.T659T	ASCC3_ENST00000522650.1_Silent_p.T659T	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	659	Helicase ATP-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.T659T(1)		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)		CATGTAAAAATGTGGCAACAT	0.363000													18	48					0	0	0.006122	0	0
MEPE	56955	broad.mit.edu	37	4	88766962	88766962	+	Silent	SNP	A	A	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:88766962A>T	ENST00000497649.2	+	6	1248	c.870A>T	c.(868-870)ggA>ggT	p.G290G	MEPE_ENST00000560249.1_Silent_p.G201G|MEPE_ENST00000361056.3_Silent_p.G314G|MEPE_ENST00000424957.3_Silent_p.G314G|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Silent_p.G345G|MEPE_ENST00000540395.1_Silent_p.G201G			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	314					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.G314G(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAAATGGTGGAAATACCATTG	0.438000													27	37					0	0	0.004656	0	0
C6orf118	168090	broad.mit.edu	37	6	165706874	165706874	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:165706874T>A	ENST00000543069.1	-	6	1417	c.836A>T	c.(835-837)tAt>tTt	p.Y279F	C6orf118_ENST00000230301.8_Intron			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	0										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AAAGCACCCATAAGGAAGGAC	0.498000													21	51					0	0	0.003954	0	0
DTX1	1840	broad.mit.edu	37	12	113534585	113534585	+	Silent	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:113534585C>G	ENST00000257600.3	+	9	2207	c.1704C>G	c.(1702-1704)acC>acG	p.T568T	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	568					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.T568K(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGTCCAACACCACGGGCGAGT	0.632000													8	17					0	0	0.000978	0	0
CRYGN	155051	broad.mit.edu	37	7	151135214	151135214	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:151135214G>C	ENST00000337323.2	-	2	264	c.138C>G	c.(136-138)agC>agG	p.S46R	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	46	Beta/gamma crystallin 'Greek key' 1.							p.S46R(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGGCTCCGCTCTCCACGT	0.597000													21	39					0	0	0.002780	0	0
HCN1	348980	broad.mit.edu	37	5	45262167	45262167	+	Silent	SNP	T	T	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:45262167T>C	ENST00000303230.4	-	8	2586	c.2529A>G	c.(2527-2529)cgA>cgG	p.R843R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	843						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R843R(1)		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						ACGACATCTGTCGGAAGAGGG	0.647000													34	78					0	0	0.007835	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677378	3677378	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:3677378G>T	ENST00000344754.4	-	10	2537	c.2538C>A	c.(2536-2538)tcC>tcA	p.S846S	SIGLEC1_ENST00000202578.4_Silent_p.S846S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	846	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.S846S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCGACCATGGGATGGGACCT	0.627000													33	20					2.51541e-25	4.28317e-25	0.004878	1	0
TRBV11-1	28582	broad.mit.edu	37	7	142223821	142223821	+	RNA	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:142223821C>T	ENST00000390367.3	-	0	362																											AACGCTGTGGCTAAGCTGCTG	0.532000													14	50					0	0	0.003163	0	0
LPAL2	80350	broad.mit.edu	37	6	160888578	160888578	+	RNA	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:160888578C>G	ENST00000335388.5	-	0	1678					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TTTACTTGTTCGGAAGGAGCC	0.507000													6	18					0	0	0.001984	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657385	40657385	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:40657385G>T	ENST00000406785.1	-	2	225	c.36C>A	c.(34-36)acC>acA	p.T12T	SLC8A1_ENST00000405269.1_Silent_p.T12T|SLC8A1_ENST00000542756.1_Silent_p.T12T|SLC8A1_ENST00000542024.1_Silent_p.T12T|SLC8A1_ENST00000408028.2_Silent_p.T12T|SLC8A1_ENST00000405901.3_Silent_p.T12T|SLC8A1_ENST00000403092.1_Silent_p.T12T|SLC8A1_ENST00000402441.1_Silent_p.T12T|SLC8A1_ENST00000332839.4_Silent_p.T12T|SLC8A1_ENST00000406391.2_Silent_p.T12T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	12					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.T12T(3)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCATTGAAAAGGTGGGTGAAA	0.408000													38	72					7.53189e-24	1.26029e-23	0.007835	1	0
CNTN1	1272	broad.mit.edu	37	12	41419119	41419119	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:41419119G>T	ENST00000551295.2	+	21	2808	c.2691G>T	c.(2689-2691)gaG>gaT	p.E897D	CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.E897D|CNTN1_ENST00000348761.2_Missense_Mutation_p.E886D	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	897	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.E897D(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ACATGATTGAGGCTTTCACCA	0.443000													97	151					2.83271e-70	5.6321e-70	0.003610	1	0
SLIT2	9353	broad.mit.edu	37	4	20255565	20255565	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:20255565G>C	ENST00000504154.1	+	1	379	c.127G>C	c.(127-129)Ggg>Cgg	p.G43R	SLIT2_ENST00000273739.5_Missense_Mutation_p.G43R|SLIT2_ENST00000503837.1_Missense_Mutation_p.G43R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G43R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	43	LRRNT.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.G43R(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGACTGTCACGGGCTGGCGCT	0.667000													25	58					0	0	0.003954	0	0
HENMT1	113802	broad.mit.edu	37	1	109191532	109191532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:109191532C>A	ENST00000370032.5	-	8	1258	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000370031.1_Nonsense_Mutation_p.E311*|HENMT1_ENST00000402983.1_Nonsense_Mutation_p.E280*	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	280					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	p.E280*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						CTTAAGCTTTCCACTTGTTGG	0.483000													26	48					7.01153e-11	8.79369e-11	0.007291	1	0
ZFHX4	79776	broad.mit.edu	37	8	77616460	77616460	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:77616460C>G	ENST00000521891.2	+	2	585	c.137C>G	c.(136-138)tCc>tGc	p.S46C	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S46C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S46C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S46C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	46						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S46C(1)		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)			GAAAACAGCTCCACAGATGAC	0.498000										HNSCC(33;0.089)			15	50					0	0	0.003163	0	0
EIF1	10209	broad.mit.edu	37	17	39846406	39846406	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:39846406G>A	ENST00000469257.1	+	3	408	c.262G>A	c.(262-264)Gac>Aac	p.D88N	EIF1_ENST00000310837.4_3'UTR|JUP_ENST00000540235.1_Intron|EIF1_ENST00000591776.1_Missense_Mutation_p.D88N			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1	88					regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity	p.D88N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCTACAGGGTGACCAACGCAA	0.458000													42	47					0	0	0.002852	0	0
GPR128	84873	broad.mit.edu	37	3	100356236	100356236	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:100356236G>T	ENST00000273352.3	+	6	956	c.688G>T	c.(688-690)Gcc>Tcc	p.A230S	GPR128_ENST00000475887.1_Missense_Mutation_p.M17I	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	230					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A230S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TAATGATGATGCCCTTACAAC	0.383000													30	21					3.1745e-13	4.34405e-13	0.008361	1	0
DKC1	1736	broad.mit.edu	37	X	153999154	153999154	+	Splice_Site	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:153999154G>A	ENST00000369550.5	+	10	1246	c.1036_splice	c.e10+1	p.A346_splice	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	346	PUA.				cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	p.A346T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATCTGCATGGGTAAGAGGGG	0.398000									Congenital Dyskeratosis				54	192					0	0	0.003610	0	0
ASAP2	8853	broad.mit.edu	37	2	9463317	9463317	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:9463317G>T	ENST00000281419.3	+	6	878	c.538G>T	c.(538-540)Gga>Tga	p.G180*	ASAP2_ENST00000315273.4_Nonsense_Mutation_p.G180*	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	180					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	p.G180*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TGAAATAAGCGGAGCGGAAAT	0.507000													61	115					6.05568e-20	9.56458e-20	0.003610	1	0
IL31RA	133396	broad.mit.edu	37	5	55201965	55201965	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:55201965C>A	ENST00000396834.1	+	11	1540	c.1044C>A	c.(1042-1044)tgC>tgA	p.C348*	IL31RA_ENST00000447346.2_Nonsense_Mutation_p.C367*|IL31RA_ENST00000297015.3_Nonsense_Mutation_p.C225*|IL31RA_ENST00000359040.5_Nonsense_Mutation_p.C367*|IL31RA_ENST00000354961.4_Nonsense_Mutation_p.C348*|IL31RA_ENST00000396836.2_Nonsense_Mutation_p.C367*|IL31RA_ENST00000490985.1_Nonsense_Mutation_p.C225*	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	335	Fibronectin type-III 4.				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	p.C367*(1)		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)				TGCAGGCCTGCGTTGCTGAGG	0.512000													25	70					2.44723e-14	3.43222e-14	0.004656	1	0
TMPRSS11A	339967	broad.mit.edu	37	4	68795710	68795710	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:68795710G>T	ENST00000508048.1	-	5	401	c.366C>A	c.(364-366)ttC>ttA	p.F122L	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.F123L|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.F126L			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	126	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.F126L(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CAGTAGAGGGGAACTGGAACA	0.393000													82	97					2.05912e-35	3.86657e-35	0.003610	1	0
SEMA6C	10500	broad.mit.edu	37	1	151109355	151109355	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:151109355C>A	ENST00000341697.3	-	11	2643	c.952G>T	c.(952-954)Gtc>Ttc	p.V318F				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	318	Sema.					integral to membrane	receptor activity	p.V318F(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTGGTGAAGACCCCAAAGAGA	0.537000													28	87					1.17739e-12	1.56677e-12	0.005443	1	0
EDNRB	1910	broad.mit.edu	37	13	78492704	78492704	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr13:78492704T>A	ENST00000377211.4	-	2	427	c.275A>T	c.(274-276)cAg>cTg	p.Q92L	EDNRB_ENST00000446573.1_Missense_Mutation_p.Q2L|EDNRB_ENST00000334286.5_Missense_Mutation_p.Q2L|EDNRB_ENST00000475537.1_5'UTR	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	2					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.Q2L(1)|p.Q92L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TGGAGGCGGCTGCATGCTGCT	0.642000											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	18					0	0	0.001984	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073453	74073453	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:74073453A>C	ENST00000370367.3	+	3	577	c.524A>C	c.(523-525)cAg>cCg	p.Q175P		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member									p.Q175P(1)									GTGGAGGTGCAGGAGGCCGGG	0.692000													12	16					0	0	0.000978	0	0
BMPR1A	657	broad.mit.edu	37	10	88683407	88683407	+	Silent	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:88683407C>T	ENST00000372037.2	+	13	2067	c.1530C>T	c.(1528-1530)tcC>tcT	p.S510S		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	510	Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	p.S510S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						ATCCAGCCTCCAGACTCACAG	0.423000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				36	60					0	0	0.005524	0	0
ANKRD27	84079	broad.mit.edu	37	19	33117667	33117667	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:33117667C>G	ENST00000306065.4	-	16	1645	c.1487G>C	c.(1486-1488)gGa>gCa	p.G496A		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	496					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.G496A(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CGGAGTGGCTCCATGGTAGTC	0.602000													5	13					0	0	0.003080	0	0
COLEC11	78989	broad.mit.edu	37	2	3691504	3691504	+	Silent	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:3691504C>T	ENST00000403096.3	+	6	1025	c.534C>T	c.(532-534)ggC>ggT	p.G178G	COLEC11_ENST00000418971.2_Silent_p.G218G|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Silent_p.G130G|COLEC11_ENST00000402922.1_Silent_p.G154G|COLEC11_ENST00000349077.4_Silent_p.G204G|COLEC11_ENST00000236693.7_Silent_p.G201G|COLEC11_ENST00000402794.1_Silent_p.G154G|COLEC11_ENST00000382062.2_Silent_p.G180G	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	204	C-type lectin.			S -> T (in Ref. 7; CAI56781).		collagen	mannose binding	p.G201G(1)|p.G218G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TCTTCATCGGCATCAACGACC	0.652000													6	26					0	0	0.003080	0	0
OR5M11	219487	broad.mit.edu	37	11	56310300	56310300	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:56310300G>T	ENST00000528616.2	-	1	457	c.434C>A	c.(433-435)aCa>aAa	p.T145K		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T145K(1)|p.T146K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ATAGGGAAATGTGGCCAAGCA	0.507000													4	5					0.00909568	0.00943049	0.009096	1	0
EFCAB1	79645	broad.mit.edu	37	8	49644012	49644012	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:49644012C>A	ENST00000262103.3	-	2	189	c.109G>T	c.(109-111)Gga>Tga	p.G37*	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000433756.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	37							calcium ion binding	p.G37*(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCTACTCCTCCCACCAAGTCA	0.338000													17	40					5.03518e-11	6.38609e-11	0.007413	1	0
MAGT1	84061	broad.mit.edu	37	X	77112882	77112882	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:77112882C>A	ENST00000358075.6	-	4	685	c.599G>T	c.(598-600)cGg>cTg	p.R200L		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	168					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R168L(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCGATCCACCGGGCAATCTG	0.463000													53	122					3.28156e-27	5.70265e-27	0.003610	1	0
SNCAIP	9627	broad.mit.edu	37	5	121759192	121759192	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:121759192C>A	ENST00000261367.7	+	6	2329	c.901C>A	c.(901-903)Cag>Aag	p.Q301K	SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.Q301K|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Q254K|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Q301K|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.Q254K|SNCAIP_ENST00000379538.3_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	254					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.Q301K(2)|p.Q254K(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GCCTGAAAACCAGAGTAAAGA	0.478000													42	13					1.47197e-15	2.13073e-15	0.007835	1	0
BAIAP2L1	55971	broad.mit.edu	37	7	97949370	97949370	+	Splice_Site	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:97949370G>A	ENST00000005260.8	-	5	563	c.348_splice	c.e5+1	p.N116_splice	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	116	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	p.N116N(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			ATGCACTTACGTTCATATATT	0.448000													44	67					0	0	0.003610	0	0
SEMA6A	57556	broad.mit.edu	37	5	115831129	115831129	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:115831129G>A	ENST00000343348.6	-	6	1211	c.424C>T	c.(424-426)Cct>Tct	p.P142S	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.P142S|SEMA6A_ENST00000510263.1_Missense_Mutation_p.P142S|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503962.1_5'UTR	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	142	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.P142T(1)|p.P142S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTGCAGGAAGGGTTGAAGGCA	0.378000													13	5					0	0	0.004990	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776343	77776343	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:77776343C>A	ENST00000521891.2	+	11	10841	c.10393C>A	c.(10393-10395)Cac>Aac	p.H3465N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.H3439N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H3416N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H3420N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3416	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H3449N(1)		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)			ACTTAGCCAACACCTCCAGTC	0.443000										HNSCC(33;0.089)			18	27					8.00594e-06	8.91601e-06	0.007413	1	0
DHX8	1659	broad.mit.edu	37	17	41597599	41597599	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:41597599G>T	ENST00000262415.3	+	19	2973	c.2901G>T	c.(2899-2901)ctG>ctT	p.L967L	DHX8_ENST00000540306.1_Silent_p.L967L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	967						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.L967L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGGGGGCCCTGGATGACGAGG	0.542000											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	64					5.19286e-32	9.43649e-32	0.003610	1	0
LONRF3	79836	broad.mit.edu	37	X	118124489	118124489	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:118124489G>T	ENST00000365713.2	+	4	1421	c.1258G>T	c.(1258-1260)Gac>Tac	p.D420Y	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.D420Y|LONRF3_ENST00000371628.3_Missense_Mutation_p.D461Y|LONRF3_ENST00000422289.2_Missense_Mutation_p.D205Y			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	461					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.D461Y(1)|p.D420Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TGCATCTTTCGACGCATCTGA	0.493000													57	89					1.59911e-31	2.89037e-31	0.003610	1	0
DSG1	1828	broad.mit.edu	37	18	28906836	28906836	+	Splice_Site	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr18:28906836G>C	ENST00000257192.4	+	3	296		c.e3-1			NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1						calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.?(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGTCATTTAAGGTAAGAGATT	0.358000													34	21					0	0	0.002445	0	0
NMNAT1	64802	broad.mit.edu	37	1	10041188	10041188	+	Silent	SNP	A	A	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:10041188A>G	ENST00000377205.1	+	4	543	c.399A>G	c.(397-399)caA>caG	p.Q133Q	NMNAT1_ENST00000403197.1_Silent_p.Q133Q	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	133					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding	p.Q133Q(1)		large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		CTGAAACACAAGATTCTAGTC	0.433000													40	30					0	0	0.007835	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133455	91133455	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:91133455G>T	ENST00000373094.1	+	2	3061	c.2216G>T	c.(2215-2217)tGt>tTt	p.C739F	PCDH11X_ENST00000395337.2_Missense_Mutation_p.C739F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.C739F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.C739F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.C739F|PCDH11X_ENST00000504220.1_Missense_Mutation_p.C739F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.C739F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.C739F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.C739F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	739	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.C739F(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATGGAGAAATGTGATGTTACA	0.418000													49	88					1.09907e-53	2.14731e-53	0.003610	1	0
GFM1	85476	broad.mit.edu	37	3	158409161	158409161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr3:158409161C>T	ENST00000486715.1	+	18	2518	c.2161C>T	c.(2161-2163)Cag>Tag	p.Q721*	GFM1_ENST00000264263.5_Nonsense_Mutation_p.Q740*	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	721					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	p.Q721*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TAGCAGGTATCAGCCATGTTT	0.343000													23	90					0	0	0.002780	0	0
KCNB2	9312	broad.mit.edu	37	8	73849569	73849569	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:73849569C>A	ENST00000523207.1	+	3	2567	c.1979C>A	c.(1978-1980)cCt>cAt	p.P660H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	660					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.P660H(1)		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)			GAGAAAGGACCTGCTGCCAGG	0.552000													23	53					2.21704e-12	2.92147e-12	0.002780	1	0
MDGA2	161357	broad.mit.edu	37	14	47530668	47530668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:47530668C>A	ENST00000426342.1	-	7	1161	c.415G>T	c.(415-417)Gag>Tag	p.E139*	MDGA2_ENST00000357362.3_Nonsense_Mutation_p.E139*|MDGA2_ENST00000439988.2_Nonsense_Mutation_p.E368*|MDGA2_ENST00000399232.2_Nonsense_Mutation_p.E437*	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	368	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.E139*(2)|p.E437*(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AATGTTAGCTCCTCAGAAGGA	0.423000													34	102					1.99505e-19	3.1075e-19	0.002445	1	0
PRKG2	5593	broad.mit.edu	37	4	82125934	82125934	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:82125934C>A	ENST00000395578.1	-	2	384	c.268G>T	c.(268-270)Gga>Tga	p.G90*	PRKG2_ENST00000264399.1_Nonsense_Mutation_p.G90*|PRKG2_ENST00000418486.2_Nonsense_Mutation_p.G90*			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	90					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.G90*(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GGGCTTCCTCCCTGCATATGC	0.562000													24	96					3.6726e-16	5.40889e-16	0.003954	1	0
TNN	63923	broad.mit.edu	37	1	175067610	175067610	+	Silent	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:175067610G>T	ENST00000239462.4	+	9	2111	c.1998G>T	c.(1996-1998)gtG>gtT	p.V666V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	666	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G667W(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)		AGGTTCCGGTGGGGAAGGAGC	0.622000													22	61					5.26018e-13	7.16911e-13	0.001882	1	0
PIK3AP1	118788	broad.mit.edu	37	10	98411062	98411062	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:98411062C>T	ENST00000339364.5	-	6	1050	c.931G>A	c.(931-933)Gca>Aca	p.A311T	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.A133T	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	311	DBB.					cytoplasm|plasma membrane		p.A311T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGTCCGCTTGCAGGGATATTG	0.438000													22	50					0	0	0.002780	0	0
RBP3	5949	broad.mit.edu	37	10	48382057	48382057	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:48382057C>G	ENST00000224600.4	-	4	3705	c.3592G>C	c.(3592-3594)Gtg>Ctg	p.V1198L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1198	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.V1198L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GAGGCCCCCACAGAACGGGCC	0.642000													19	54					0	0	0.010504	0	0
ACCS	84680	broad.mit.edu	37	11	44105108	44105108	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:44105108G>T	ENST00000263776.8	+	14	1823	c.1389G>T	c.(1387-1389)caG>caT	p.Q463H		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	463							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.Q463H(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCTCAGACCAGGTCCACCGGC	0.587000													22	20					5.45024e-15	7.85578e-15	0.003330	1	0
SULF2	55959	broad.mit.edu	37	20	46307517	46307517	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr20:46307517C>A	ENST00000359930.4	-	8	1947	c.1096G>T	c.(1096-1098)Gcc>Tcc	p.A366S	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Missense_Mutation_p.A366S|SULF2_ENST00000467815.1_Missense_Mutation_p.A366S|SULF2_ENST00000484875.1_Missense_Mutation_p.A366S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	366					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.A366S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATGGTGGGGGCCAGGTCAATG	0.627000													38	63					1.62957e-23	2.68681e-23	0.008740	1	0
PROL1	58503	broad.mit.edu	37	4	71275675	71275675	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:71275675C>A	ENST00000399575.2	+	3	804	c.630C>A	c.(628-630)aaC>aaA	p.N210K		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	210	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.N210_R211>KS(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTCTCGCCAACCGTCCTCACA	0.458000													45	49					1.7489e-18	2.68695e-18	0.002852	1	0
YTHDF3	253943	broad.mit.edu	37	8	64098882	64098882	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:64098882G>A	ENST00000539294.1	+	4	626	c.310G>A	c.(310-312)Gta>Ata	p.V104I	YTHDF3_ENST00000542911.2_5'UTR|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	105												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			ACCAGATGGTGTATTTAGTCA	0.448000													17	36					0	0	0.004990	0	0
COL26A1	136227	broad.mit.edu	37	7	101063285	101063285	+	RNA	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:101063285G>T	ENST00000313669.7	+	0	378				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1									p.R62R(1)									CAGTGACACGGACGGTGTCCT	0.642000													8	16					1.58986e-06	1.80327e-06	0.008291	1	0
TACR1	6869	broad.mit.edu	37	2	75276688	75276688	+	Silent	SNP	G	G	A	rs150773283		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:75276688G>A	ENST00000305249.4	-	5	1860	c.1095C>T	c.(1093-1095)caC>caT	p.H365H		NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	365					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	p.H365H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GCTCCTCCTCGTGGGCCCCCA	0.607000													39	66					0	0	0.005524	0	0
DSG3	1830	broad.mit.edu	37	18	29038552	29038552	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr18:29038552C>A	ENST00000257189.4	+	4	444	c.361C>A	c.(361-363)Cca>Aca	p.P121T		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	121	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.P121T(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGAGGAAACTCCAAGCTTCCT	0.438000													28	15					1.16021e-09	1.426e-09	0.007291	1	0
LGI1	9211	broad.mit.edu	37	10	95557398	95557398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:95557398G>A	ENST00000371418.4	+	8	1772	c.1512G>A	c.(1510-1512)tgG>tgA	p.W504*	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Nonsense_Mutation_p.W456*	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	504					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.W504*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TGTATAACTGGGATGCAGAGA	0.368000													23	48					0	0	0.002299	0	0
OR4A16	81327	broad.mit.edu	37	11	55111208	55111208	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:55111208G>T	ENST00000314721.2	+	1	582	c.532G>T	c.(532-534)Gac>Tac	p.D178Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D178Y(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						CTCTGTCTGTGACATGTACCC	0.438000													48	60					1.86633e-21	3.00391e-21	0.003610	1	0
MC5R	4161	broad.mit.edu	37	18	13826320	13826320	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr18:13826320G>T	ENST00000324750.3	+	1	778	c.556G>T	c.(556-558)Gtc>Ttc	p.V186F		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	186					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.V186F(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATCCACCTACGTCATCCTGTG	0.567000													232	404					1.64505e-95	3.31956e-95	0.003610	1	0
TBPL1	9519	broad.mit.edu	37	6	134301367	134301367	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:134301367G>A	ENST00000237264.4	+	2	379	c.104G>A	c.(103-105)gGa>gAa	p.G35E	TBPL1_ENST00000367871.1_Missense_Mutation_p.G35E	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	35					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity	p.G35E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		GCTTTGGAAGGAGCAAATGTA	0.308000													29	75					0	0	0.007291	0	0
KIF20B	9585	broad.mit.edu	37	10	91479222	91479222	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:91479222G>T	ENST00000416354.1	+	13	1553	c.1481G>T	c.(1480-1482)gGa>gTa	p.G494V	KIF20B_ENST00000394289.2_Missense_Mutation_p.G494V|KIF20B_ENST00000371728.3_Missense_Mutation_p.G494V|KIF20B_ENST00000260753.4_Missense_Mutation_p.G494V			Q96Q89	KI20B_HUMAN	kinesin family member 20B	494					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	p.G494V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAATTATTTGGACCTGTCAAA	0.318000													26	49					7.26314e-15	1.03803e-14	0.007291	1	0
EIF2AK1	27102	broad.mit.edu	37	7	6080771	6080771	+	Missense_Mutation	SNP	G	G	A	rs143036043	byFrequency	TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:6080771G>A	ENST00000199389.6	-	9	1017	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.R167C|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	291	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	p.R291C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TCTCCAAAGCGTTTTTCTTTT	0.383000													13	202					0	0	0.002450	0	0
CCDC73	493860	broad.mit.edu	37	11	32657241	32657241	+	Splice_Site	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:32657241C>A	ENST00000335185.5	-	14	1229		c.e14+1		CCDC73_ENST00000534415.1_Splice_Site	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73									p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTAAATTTTACCTGAAACTTT	0.259000													11	13					5.50884e-06	6.15533e-06	0.001368	1	0
CNBD1	168975	broad.mit.edu	37	8	87878781	87878781	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:87878781G>A	ENST00000518476.1	+	1	109	c.58G>A	c.(58-60)Gtg>Atg	p.V20M		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	20								p.V20M(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TATTAACAATGTGCCTCCTCC	0.453000													9	16					0	0	0.008291	0	0
PGM2L1	283209	broad.mit.edu	37	11	74049567	74049567	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:74049567C>A	ENST00000298198.4	-	13	2023	c.1712G>T	c.(1711-1713)gGa>gTa	p.G571V		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	571					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	p.G571V(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TGGTTCTGTTCCACTTGTCCG	0.368000													54	58					2.22609e-26	3.84868e-26	0.003610	1	0
GAK	2580	broad.mit.edu	37	4	871403	871403	+	Splice_Site	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:871403C>G	ENST00000314167.4	-	16	1966	c.1856_splice	c.e16+1	p.R619_splice	GAK_ENST00000511163.1_Splice_Site_p.R540_splice	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	619	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.R619P(1)		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)		CTGCACTCACCGCATCTTGTC	0.652000													15	24					0	0	0.003163	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090681	91090681	+	Missense_Mutation	SNP	G	G	T	rs34165727		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:91090681G>T	ENST00000373094.1	+	1	1023	c.178G>T	c.(178-180)Gct>Tct	p.A60S	PCDH11X_ENST00000395337.2_Missense_Mutation_p.A60S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A60S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A60S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A60S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A60S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A60S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A60S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A60S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	60	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.A60S(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTGACAACTGCTATGCAGTT	0.458000													27	75					2.80507e-11	3.57779e-11	0.002445	1	0
OR10R2	343406	broad.mit.edu	37	1	158450300	158450300	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:158450300C>A	ENST00000368152.1	+	1	633	c.633C>A	c.(631-633)aaC>aaA	p.N211K	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N211K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTTGTACCAACACAGATGTTA	0.383000													41	134					1.86633e-21	3.00391e-21	0.003610	1	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31726371	31726371	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:31726371C>G	ENST00000493662.2	+	14	1297	c.1241C>G	c.(1240-1242)cCc>cGc	p.P414R	MSH5_ENST00000534153.4_Missense_Mutation_p.P414R|MSH5_ENST00000395853.1_Missense_Mutation_p.P71R|MSH5_ENST00000375742.3_Missense_Mutation_p.P414R|MSH5_ENST00000431848.2_Missense_Mutation_p.P96R|MSH5_ENST00000375750.3_Missense_Mutation_p.P397R|MSH5_ENST00000375755.3_Missense_Mutation_p.P397R|MSH5_ENST00000375703.3_Missense_Mutation_p.P397R|MSH5_ENST00000375740.3_Missense_Mutation_p.P414R														p.P397R(1)|p.P414R(1)									ACAGTCCTCCCCAACATAGAT	0.532000													10	21					0	0	0.001368	0	0
FSIP1	161835	broad.mit.edu	37	15	40018855	40018855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr15:40018855C>A	ENST00000350221.3	-	9	1194	c.985G>T	c.(985-987)Gaa>Taa	p.E329*		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	329								p.E329*(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GCAGAGAGTTCTTGGAGTTTT	0.428000													44	18					5.85753e-14	8.11412e-14	0.003610	1	0
MAGED1	9500	broad.mit.edu	37	X	51639712	51639712	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:51639712C>A	ENST00000375695.2	+	5	1282	c.1129C>A	c.(1129-1131)Cag>Aag	p.Q377K	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.Q321K|MAGED1_ENST00000375722.1_Missense_Mutation_p.Q321K|MAGED1_ENST00000326587.7_Missense_Mutation_p.Q321K	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	321	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	p.Q377K(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					ACCAGCACGTCAGAGCCCTCC	0.617000										Multiple Myeloma(10;0.10)			20	26					3.51602e-12	4.60625e-12	0.008871	1	0
RNF17	56163	broad.mit.edu	37	13	25404638	25404638	+	Silent	SNP	G	G	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr13:25404638G>A	ENST00000255324.5	+	17	2314	c.2262G>A	c.(2260-2262)caG>caA	p.Q754Q	RNF17_ENST00000381921.1_Silent_p.Q754Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	754	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.Q754Q(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTGGACATCAGGAAGTTGAAG	0.328000													33	73					0	0	0.002836	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50474602	50474602	+	RNA	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:50474602C>T	ENST00000602139.1	+	0	959									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.L274F(1)|p.L312F(1)		endometrium(2)|kidney(2)|lung(6)	10						GGAGAACAGGCTTGGCTCCCA	0.682000													23	57					0	0	0.007291	0	0
FRYL	285527	broad.mit.edu	37	4	48572899	48572899	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:48572899C>A	ENST00000537810.1	-	27	3545	c.2941G>T	c.(2941-2943)Gta>Tta	p.V981L	FRYL_ENST00000503238.1_Missense_Mutation_p.V981L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.V981L|FRYL_ENST00000358350.4_Missense_Mutation_p.V981L			O94915	FRYL_HUMAN	FRY-like	981					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.V981L(1)		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						ACCAGTTGTACTCGTAAAATG	0.388000													34	91					4.0492e-12	5.28428e-12	0.006999	1	0
SYNE1	23345	broad.mit.edu	37	6	152501421	152501421	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr6:152501421T>A	ENST00000367255.5	-	129	23911	c.23310A>T	c.(23308-23310)ttA>ttT	p.L7770F	SYNE1_ENST00000265368.4_Missense_Mutation_p.L7770F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7699F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7382F|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2294F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7699F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7770					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.L7770F(2)|p.L7699F(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTGCCGCCTTAAGGAGAGCT	0.383000										HNSCC(10;0.0054)			22	36					0	0	0.001882	0	0
KIF22	3835	broad.mit.edu	37	16	29810961	29810961	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr16:29810961G>T	ENST00000561482.1	+	7	1436	c.799G>T	c.(799-801)Ggc>Tgc	p.G267C	KIF22_ENST00000400751.5_Missense_Mutation_p.G267C|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.G267C|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000160827.4_Missense_Mutation_p.G335C	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	335	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	p.G335C(1)		endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CTCTCTGGGTGGCTCAGCCCA	0.577000													17	20					0.00074312	0.000781259	0.006122	1	0
RYR1	6261	broad.mit.edu	37	19	38976771	38976771	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:38976771G>C	ENST00000355481.4	+	34	5607	c.5476G>C	c.(5476-5478)Gct>Cct	p.A1826P	RYR1_ENST00000360985.3_Missense_Mutation_p.A1826P|RYR1_ENST00000359596.3_Missense_Mutation_p.A1826P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1826	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A1826P(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGGCAGCACGCTCGCGACCC	0.687000													42	30					0	0	0.002852	0	0
AIFM1	9131	broad.mit.edu	37	X	129270036	129270036	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:129270036C>A	ENST00000287295.3	-	12	1519	c.1289G>T	c.(1288-1290)cGc>cTc	p.R430L	AIFM1_ENST00000346424.2_Missense_Mutation_p.R143L|AIFM1_ENST00000460436.2_Missense_Mutation_p.R91L|AIFM1_ENST00000440263.1_Missense_Mutation_p.R78L|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.R426L	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	430	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.R430H(1)|p.R426H(1)|p.R430L(1)|p.R426L(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						GATGTTAGAGCGTGCTTGTAG	0.522000													39	85					6.5261e-18	9.86945e-18	0.008740	1	0
CCDC60	160777	broad.mit.edu	37	12	119942925	119942925	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:119942925C>A	ENST00000327554.2	+	7	1165	c.700C>A	c.(700-702)Cgg>Agg	p.R234R	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	234								p.R234R(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAAACCAAGCCGGCGAGGCTC	0.542000													41	64					1.8453e-21	2.98426e-21	0.002522	1	0
SPATA17	128153	broad.mit.edu	37	1	217955618	217955618	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:217955618G>C	ENST00000366933.4	+	8	881	c.826G>C	c.(826-828)Gag>Cag	p.E276Q	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	276						cytoplasm	calmodulin binding	p.E276Q(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		GTTGGCCAGAGAGGAGCTCAG	0.433000													20	29					0	0	0.010504	0	0
OR4C16	219428	broad.mit.edu	37	11	55340249	55340249	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:55340249T>A	ENST00000314634.3	+	1	646	c.646T>A	c.(646-648)Tat>Aat	p.Y216N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y216N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				AATATTCTCCTATGTCATCTT	0.418000													19	17					0	0	0.008871	0	0
CAMK2N1	55450	broad.mit.edu	37	1	20810198	20810198	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:20810198C>T	ENST00000375078.3	-	2	1021	c.181G>A	c.(181-183)Gat>Aat	p.D61N	CAMK2N1_ENST00000489020.1_5'UTR	NM_018584.5	NP_061054.2	Q7Z7J9	CK2N1_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 1	61	Inhibitory domain (By similarity).					cell junction|postsynaptic density|postsynaptic membrane|synaptosome		p.D61N(1)		lung(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.00116)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		TCAATCCTATCATCTTCAATA	0.498000													34	52					0	0	0.003271	0	0
ATP10D	57205	broad.mit.edu	37	4	47571099	47571099	+	Silent	SNP	G	G	C			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:47571099G>C	ENST00000273859.3	+	16	3368	c.3099G>C	c.(3097-3099)ccG>ccC	p.P1033P		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1033					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P1033P(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAGCCACACCGCTGCAGAAAA	0.532000													16	33					0	0	0.008871	0	0
TGM7	116179	broad.mit.edu	37	15	43585737	43585737	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr15:43585737C>A	ENST00000452443.2	-	2	107	c.103G>T	c.(103-105)Gtg>Ttg	p.V35L		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	35					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.V35L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCGCGGCGCACAGTGAGCCGC	0.617000													62	33					2.14255e-21	3.44029e-21	0.003610	1	0
MAP1B	4131	broad.mit.edu	37	5	71493793	71493793	+	Silent	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:71493793C>A	ENST00000296755.7	+	5	4909	c.4611C>A	c.(4609-4611)ggC>ggA	p.G1537G		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1537						microtubule|microtubule associated complex	structural molecule activity	p.G1537G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTGATGAGGGCGTAGCAGAAG	0.463000													30	29					1.39806e-14	1.98131e-14	0.008361	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182888	140182888	+	Silent	SNP	C	C	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:140182888C>T	ENST00000522353.2	+	1	2106	c.2106C>T	c.(2104-2106)gtC>gtT	p.V702V	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.V702V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.V702V(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGATCGTCGCCATCTGCG	0.657000													71	32					0	0	0.003610	0	0
AUTS2	26053	broad.mit.edu	37	7	69583203	69583203	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:69583203G>T	ENST00000342771.4	+	3	929	c.608G>T	c.(607-609)cGg>cTg	p.R203L	AUTS2_ENST00000406775.2_Missense_Mutation_p.R203L|AUTS2_ENST00000403018.2_Missense_Mutation_p.R203L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	203								p.R203L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGCAGCTCTCGGGAAAGGCTC	0.433000													17	24					3.45872e-05	3.77721e-05	0.004007	1	0
CPNE8	144402	broad.mit.edu	37	12	39156000	39156000	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:39156000C>A	ENST00000331366.5	-	9	690	c.594G>T	c.(592-594)aaG>aaT	p.K198N	CPNE8_ENST00000360449.3_Missense_Mutation_p.K186N	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	198	C2 2.							p.K198N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CAACTTCTGTCTTGTGACAAA	0.333000													23	28					2.89027e-11	3.67951e-11	0.002299	1	0
COPA	1314	broad.mit.edu	37	1	160275343	160275343	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:160275343C>A	ENST00000241704.7	-	17	1776	c.1547G>T	c.(1546-1548)cGc>cTc	p.R516L	COPA_ENST00000368069.3_Missense_Mutation_p.R525L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	516					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	p.R525L(1)|p.R516L(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATCCAGTTTGCGGTTACAGAT	0.488000													30	40					8.16721e-17	1.21877e-16	0.002096	1	0
THEMIS2	9473	broad.mit.edu	37	1	28208975	28208975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:28208975delC	ENST00000373921.3	+	4	1144	c.1140delC	c.(1138-1140)ggfs	p.G380fs	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Intron	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		TGGGGCCTGGCCAGGCCCATG	0.647													14	19	---	---	---	---					
SYT6	148281	broad.mit.edu	37	1	114640403	114640403	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr1:114640403delC	ENST00000393296.1	-	6	1538	c.1461delG	c.(1459-1461)cgfs	p.R487fs	SYT6_ENST00000369547.1_Frame_Shift_Del_p.R402fs			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	487	Necessary for cell membrane association (isoform 2) (By similarity).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		CGATGGGCTTCCGGGGGTATG	0.572													21	38	---	---	---	---					
ABCB11	8647	broad.mit.edu	37	2	169780177	169780177	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:169780177delT	ENST00000263817.6	-	28	4045	c.3921delA	c.(3919-3921)aafs	p.K1307fs		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1307	ABC transporter 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)	AGTAGGCTCCTTTTTGGGCCA	0.502													21	52	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179401683	179401683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr2:179401683delT	ENST00000589042.1	-	356	100377	c.100153delA	c.(100153-100155)tcfs	p.I33386fs	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.I24446fs|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.I30818fs|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.I24321fs|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.I24513fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.I31745fs|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31745	Ig-like 146.						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)			CTCTTAATGATCACAACTGAG	0.378													11	26	---	---	---	---					
TKTL2	84076	broad.mit.edu	37	4	164394464	164394465	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr4:164394464_164394465insT	ENST00000280605.3	-	1	582_583	c.422_423insA	c.(421-423)atafs	p.I141fs		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	141						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTCAAGGTACTTGCCAGTATA	0.540													45	98	---	---	---	---					
PCDHGA12	26025	broad.mit.edu	37	5	140812476	140812476	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr5:140812476delG	ENST00000252085.3	+	1	2292	c.2150delG	c.(2149-2151)cgfs	p.R718fs	PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGCTGCGGCGCTGGCAC	0.652													83	43	---	---	---	---					
TFPI2	7980	broad.mit.edu	37	7	93518455	93518459	+	Frame_Shift_Del	DEL	TTAGA	TTAGA	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr7:93518455_93518459delTTAGA	ENST00000222543.5	-	3	660_664	c.348_352delTCTAA	c.(346-354)aagtfs	p.NLS116fs	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Splice_Site_p.95_splice	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	116	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GTCATGGAACTTAGATTAAAGAAAT	0.468													55	128	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77766151	77766163	+	Frame_Shift_Del	DEL	AAAAAGCAGTGTT	AAAAAGCAGTGTT	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:77766151_77766163delAAAAAGCAGTGTT	ENST00000521891.2	+	10	7442_7454	c.6994_7006delAAAAAGCAGTGTT	c.(6994-7008)acfs	p.KKQCY2332fs	ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.KKQCY2287fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.KKQCY2306fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.KKQCY2287fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2287						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K2317N(1)		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)			TACGCATCAGAAAAAGCAGTGTTACAAGGATGA	0.432										HNSCC(33;0.089)			30	99	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113241000	113241000	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:113241000delT	ENST00000297405.5	-	70	11193	c.10949delA	c.(10948-10950)ttfs	p.Y3650fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.Y3580fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.Y3481fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.Y3610fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3650						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						TTTATAAAGATAAAATCCAAA	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	38	---	---	---	---					
TRPS1	7227	broad.mit.edu	37	8	116426509	116426509	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr8:116426509delG	ENST00000395715.3	-	7	4204	c.3627delC	c.(3625-3627)ccfs	p.P1209fs	TRPS1_ENST00000519076.1_Frame_Shift_Del_p.P950fs|TRPS1_ENST00000520276.1_Frame_Shift_Del_p.P1200fs|TRPS1_ENST00000220888.5_Frame_Shift_Del_p.P1196fs	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1196	Transcriptional repressor domain (By similarity).				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)			CTACATTCAAGGGACCTTCAT	0.423									Langer-Giedion syndrome				8	56	---	---	---	---					
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)ggfs	p.R298fs	MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL								9	451	---	---	---	---					
CTSV	1515	broad.mit.edu	37	9	99799652	99799652	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr9:99799652delC	ENST00000259470.5	-	4	527	c.278delG	c.(277-279)gtfs	p.G93fs	CTSV_ENST00000538255.1_Frame_Shift_Del_p.G93fs|CTSV_ENST00000479932.1_5'UTR	NM_001333.3	NP_001324.2			cathepsin V																		TCGAAAGCAACCCATCATCTG	0.413													41	28	---	---	---	---					
GPR158	57512	broad.mit.edu	37	10	25886911	25886911	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr10:25886911delG	ENST00000376351.3	+	11	2715	c.2356delG	c.(2356-2358)ccfs	p.A786fs	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	786						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAAAGGCACTGCCCTCATCAG	0.547													35	26	---	---	---	---					
CNTN5	53942	broad.mit.edu	37	11	100141962	100141962	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr11:100141962delC	ENST00000524871.1	+	18	2593	c.2303delC	c.(2302-2304)aafs	p.T768fs	CNTN5_ENST00000418526.2_Frame_Shift_Del_p.T694fs|CNTN5_ENST00000279463.3_Frame_Shift_Del_p.T768fs|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Frame_Shift_Del_p.T768fs|CNTN5_ENST00000528682.1_Frame_Shift_Del_p.T768fs	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	768					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)		ATGATCCGCACAAATGAAGCA	0.443													12	21	---	---	---	---					
GLT1D1	144423	broad.mit.edu	37	12	129442128	129442128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr12:129442128delC	ENST00000442111.2	+	11	907	c.819delC	c.(817-819)atfs	p.I273fs	GLT1D1_ENST00000537468.1_Frame_Shift_Del_p.I278fs|GLT1D1_ENST00000281703.6_Frame_Shift_Del_p.I193fs|GLT1D1_ENST00000542193.1_Frame_Shift_Del_p.I190fs			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	273					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CCAGGAACATCCCCGGGAATG	0.498													13	50	---	---	---	---					
NUFIP1	26747	broad.mit.edu	37	13	45517710	45517711	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr13:45517710_45517711insT	ENST00000379161.4	-	9	1283_1284	c.1237_1238insA	c.(1237-1239)aaafs	p.K413fs		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	413					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TGAAAAATTTCTAACAGTTGCT	0.376													60	118	---	---	---	---					
HNRNPA1L2	144983	broad.mit.edu	37	13	53217101	53217102	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr13:53217101_53217102insA	ENST00000342657.3	+	7	1547_1548	c.474_475insA	c.(472-477)tctggafs	p.G159fs	HNRNPA1L2_ENST00000398039.1_Frame_Shift_Ins_p.G159fs|HNRNPA1L2_ENST00000357495.2_Frame_Shift_Ins_p.G159fs	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	159	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						ACCATGACTCCGTGGATAAGAT	0.436													39	46	---	---	---	---					
MDGA2	161357	broad.mit.edu	37	14	47530771	47530771	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:47530771delT	ENST00000426342.1	-	7	1058	c.312delA	c.(310-312)aafs	p.K104fs	MDGA2_ENST00000439988.2_Frame_Shift_Del_p.K333fs|MDGA2_ENST00000357362.3_Frame_Shift_Del_p.K104fs|MDGA2_ENST00000399232.2_Frame_Shift_Del_p.K402fs	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	333	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAAATCGTCCTTTTTTTAATG	0.353													11	58	---	---	---	---					
EIF5	1983	broad.mit.edu	37	14	103804756	103804757	+	In_Frame_Ins	INS	-	-	CAC	rs148191276		TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr14:103804756_103804757insCAC	ENST00000216554.3	+	7	1208_1209	c.532_533insCAC	c.(532-534)acc>CACacc	p.177_178insH	EIF5_ENST00000558506.1_In_Frame_Ins_p.177_178insH|EIF5_ENST00000392715.2_In_Frame_Ins_p.177_178insH	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	177					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CAGCAGTGAGAcaccaccacca	0.436													9	6	---	---	---	---					
SCAPER	49855	broad.mit.edu	37	15	76866552	76866552	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr15:76866552delC	ENST00000538941.2	-	23	2986	c.2047delG	c.(2047-2049)tgfs	p.V683fs	SCAPER_ENST00000324767.7_Frame_Shift_Del_p.V929fs|SCAPER_ENST00000563290.1_Frame_Shift_Del_p.V929fs	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	928	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AAAGCAGACACTTTATTGTTT	0.383													15	13	---	---	---	---					
ADAMTS7	11173	broad.mit.edu	37	15	79058941	79058943	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr15:79058941_79058943delCGC	ENST00000388820.4	-	19	3520_3522	c.3310_3312delGCG	c.(3310-3312)del	p.A1104del		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1104					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCGTGGAGGGCGCAGCAGGATGG	0.680													4	9	---	---	---	---					
KRT16P6	353194	broad.mit.edu	37	17	16723089	16723092	+	RNA	DEL	TTTG	TTTG	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr17:16723089_16723092delTTTG	ENST00000417510.1	-	0	871																											tttttttttttttgacagggtcta	0.490													2	4	---	---	---	---					
ZNF20	7568	broad.mit.edu	37	19	12243489	12243490	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chr19:12243489_12243490delTT	ENST00000334213.5	-	4	1735_1736	c.1511_1512delAA	c.(1510-1512)afs	p.K504fs	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						ATTGATAGGGTTTCTCTCCAGT	0.401													100	73	---	---	---	---					
ZBED1	9189	broad.mit.edu	37	X	2407837	2407838	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:2407837_2407838insA	ENST00000381223.4	-	2	1126_1127	c.923_924insT	c.(922-924)cggfs	p.R308fs	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Frame_Shift_Ins_p.R308fs|ZBED1_ENST00000381222.2_Frame_Shift_Ins_p.R308fs	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	308						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				GCAGCGCCCCCAGCTTCGGGAG	0.624													48	38	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38080652	38080652	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:38080652delG	ENST00000343800.6	-	1	44	c.45delC	c.(43-45)ccfs	p.P15fs	RP13-43E11.1_ENST00000423919.1_RNA|TM4SF2_ENST00000465127.1_Intron			P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	0					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						tggcagagcagggactggaac	0.453											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	24	---	---	---	---					
CCDC120	90060	broad.mit.edu	37	X	48920024	48920025	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:48920024_48920025insT	ENST00000376396.3	+	4	294_295	c.75_76insT	c.(73-78)ccaggtfs	p.G26fs	CCDC120_ENST00000597275.1_Frame_Shift_Ins_p.G26fs|CCDC120_ENST00000603986.1_Frame_Shift_Ins_p.G61fs|CCDC120_ENST00000536628.2_Frame_Shift_Ins_p.G14fs|CCDC120_ENST00000496529.2_Frame_Shift_Ins_p.G26fs|CCDC120_ENST00000422185.2_Frame_Shift_Ins_p.G26fs	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	26							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AGGCTGCCCCCCAGGTGAAGTC	0.634													17	45	---	---	---	---					
GPRASP2	114928	broad.mit.edu	37	X	101969960	101969960	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:101969960delA	ENST00000543253.1	+	5	1082	c.163delA	c.(163-165)agfs	p.K55fs	GPRASP2_ENST00000535209.1_Frame_Shift_Del_p.K55fs|GPRASP2_ENST00000332262.5_Frame_Shift_Del_p.K55fs	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AACTGAGACCAAGTCTGTGCC	0.562													46	109	---	---	---	---					
SERPINA7	6906	broad.mit.edu	37	X	105281019	105281019	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:105281019delC	ENST00000327674.4	-	1	366	c.31delG	c.(31-33)tafs	p.V11fs	SERPINA7_ENST00000372563.1_Frame_Shift_Del_p.V11fs			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	11					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGCCCAAGTACCAAGAGAACC	0.443													45	110	---	---	---	---					
SASH3	54440	broad.mit.edu	37	X	128925035	128925035	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6594-01A-11D-1753-08	TCGA-50-6594-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1365c7d-e93e-4478-a8e9-ae2d7ca30bc6	c5ddac52-34fa-46d8-898e-ff47aa9a9932	g.chrX:128925035delG	ENST00000356892.3	+	4	534	c.420delG	c.(418-420)gtfs	p.V140fs		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	140										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						AACTTCCGGTGCTCAGCCGCC	0.612													24	46	---	---	---	---					
