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
KDM5C	8242	broad.mit.edu	37	X	53230770	53230770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chrX:53230770G>A	ENST00000452825.3	-	12	2354	c.1822C>T	c.(1822-1824)Caa>Taa	p.Q608*	KDM5C_ENST00000375383.3_Nonsense_Mutation_p.Q634*|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375401.3_Nonsense_Mutation_p.Q675*|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.Q674*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.Q675*	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	675	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.Q608*(1)|p.Q675*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CGCTCTTCTTGCACCATGATG	0.567000			"""N, F, S"""		clear cell renal carcinoma								45	48					0	0	0.870114	0	0
HTR6	3362	broad.mit.edu	37	1	20005133	20005133	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:20005133C>G	ENST00000289753.1	+	2	1255	c.788C>G	c.(787-789)gCc>gGc	p.A263G		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	263					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	p.A263G(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	AGCAGGAAGGCCCTGAAGGCC	0.617000													16	69					0	0	0.639603	0	0
OR4S2	219431	broad.mit.edu	37	11	55419045	55419045	+	Silent	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr11:55419045C>A	ENST00000312422.2	+	1	666	c.666C>A	c.(664-666)tcC>tcA	p.S222S		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L223M(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TCCTAGTTTCCCTGAGAAAGC	0.478000													99	44					1.50986e-39	2.37605e-39	0.870114	1	0
RTN1	6252	broad.mit.edu	37	14	60074059	60074059	+	Silent	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr14:60074059G>A	ENST00000267484.5	-	4	2252	c.1917C>T	c.(1915-1917)cgC>cgT	p.R639R	RTN1_ENST00000395090.1_Silent_p.R56R|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Silent_p.R71R	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	639	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.R639R(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ACTTGTAGATGCGGAAACTGA	0.587000													7	27					0	0	0.361761	0	0
TNS4	84951	broad.mit.edu	37	17	38644981	38644981	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr17:38644981T>A	ENST00000254051.6	-	3	838	c.680A>T	c.(679-681)aAt>aTt	p.N227I		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	227	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.N227I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCTGGGGGAATTTGGGGGTCG	0.642000													49	67					0	0	0.870114	0	0
OR13D1	286365	broad.mit.edu	37	9	107457252	107457252	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr9:107457252G>A	ENST00000318763.5	+	1	593	c.550G>A	c.(550-552)Ggc>Agc	p.G184S		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G184S(1)		large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTGGATCATAGGCTGTCTGAC	0.463000													27	140					0	0	0.681144	0	0
MEIS1	4211	broad.mit.edu	37	2	66798643	66798643	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:66798643G>T	ENST00000407092.2	+	12	1837	c.1380G>T	c.(1378-1380)atG>atT	p.M460I	MEIS1_ENST00000272369.9_3'UTR|MEIS1_ENST00000488550.1_3'UTR|MEIS1_ENST00000495021.2_3'UTR|MEIS1_ENST00000444274.2_3'UTR|MEIS1_ENST00000398506.2_Missense_Mutation_p.M458I			O00470	MEIS1_HUMAN	Meis homeobox 1	360							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GACAAGTCATGGACATTCATG	0.453000													11	8					3.07112e-06	3.37597e-06	0.387290	1	0
MYH7	4625	broad.mit.edu	37	14	23885394	23885394	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr14:23885394A>T	ENST00000355349.3	-	34	4934	c.4772T>A	c.(4771-4773)cTg>cAg	p.L1591Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1591					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1591Q(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CACCACCCGCAGGTGGTTGCG	0.607000													49	204					0	0	0.870114	0	0
NAALADL1	10004	broad.mit.edu	37	11	64821756	64821756	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr11:64821756C>T	ENST00000358658.3	-	6	985	c.958G>A	c.(958-960)Ggc>Agc	p.G320S	NAALADL1_ENST00000356632.3_Intron|NAALADL1_ENST00000340252.4_Missense_Mutation_p.G320S|NAALADL1_ENST00000339885.2_Missense_Mutation_p.G320S|NAALADL1_ENST00000355721.3_Missense_Mutation_p.G279S|NAALADL1_ENST00000355369.2_Missense_Mutation_p.G320S	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	320	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.G320S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGCCGGAAGCCGGGACCCAAC	0.637000													12	107					0	0	0.500413	0	0
USP7	7874	broad.mit.edu	37	16	8988972	8988972	+	Silent	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr16:8988972C>T	ENST00000344836.4	-	28	3153	c.2955G>A	c.(2953-2955)gaG>gaA	p.E985E	USP7_ENST00000535863.1_Silent_p.E886E|USP7_ENST00000381886.4_Silent_p.E969E	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	985					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E985E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCATCTCATTCTCTTTGTCTA	0.483000													63	594					0	0	0.870114	0	0
CFAP221	200373	broad.mit.edu	37	2	120383238	120383238	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:120383238G>A	ENST00000602047.1	+	16	1744	c.632G>A	c.(631-633)gGc>gAc	p.G211D	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Missense_Mutation_p.G497D			Q4G0U5	PCDP1_HUMAN		497						cilium	calmodulin binding	p.G211D(1)				Colorectal(110;0.196)					AGAAAGATTGGCCAAGCAAAA	0.428000													25	86					0	0	0.717897	0	0
ZNF83	55769	broad.mit.edu	37	19	53117543	53117543	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:53117543T>C	ENST00000597597.1	-	2	2528	c.275A>G	c.(274-276)cAc>cGc	p.H92R	ZNF83_ENST00000544146.1_Missense_Mutation_p.H92R|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.H92R|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.H92R|ZNF83_ENST00000391789.4_Missense_Mutation_p.H92R|ZNF83_ENST00000536937.1_Missense_Mutation_p.H92R|ZNF83_ENST00000301096.3_Missense_Mutation_p.H92R			P51522	ZNF83_HUMAN	zinc finger protein 83	92						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H92R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		ACATTTGTAGTGTTCTGTCCC	0.323000													55	35					0	0	0.870114	0	0
ACOX3	8310	broad.mit.edu	37	4	8407759	8407759	+	Silent	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr4:8407759C>A	ENST00000356406.5	-	7	776	c.699G>T	c.(697-699)ccG>ccT	p.P233P	ACOX3_ENST00000413009.2_Silent_p.P233P|ACOX3_ENST00000503233.1_Silent_p.P233P	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	233					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.P233P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GAAGGGTCTTCGGGTCCCGGA	0.493000													56	171					5.08636e-23	7.31165e-23	0.870114	1	0
OR2A5	393046	broad.mit.edu	37	7	143748183	143748183	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr7:143748183C>A	ENST00000408906.2	+	1	723	c.689C>A	c.(688-690)tCt>tAt	p.S230Y		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230Y(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					AGGATCCAGTCTGGGGAGGGC	0.602000													63	154					4.09171e-25	5.93893e-25	0.870114	1	0
CCHCR1	54535	broad.mit.edu	37	6	31112700	31112700	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr6:31112700C>A	ENST00000396268.3	-	14	2215	c.2027G>T	c.(2026-2028)cGg>cTg	p.R676L	CCHCR1_ENST00000451521.2_Missense_Mutation_p.R640L|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R534L|CCHCR1_ENST00000376266.5_Missense_Mutation_p.R587L	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	587					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	p.R676L(1)|p.R587L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CAGCTCCTGCCGCAGACTGGC	0.637000													47	75					8.44121e-28	1.26196e-27	0.870114	1	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652518	45652518	+	RNA	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr10:45652518G>A	ENST00000427229.2	+	0	2032																											CATCTGTAAAGACTGAATGCG	0.363000													7	21					0	0	0.307466	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	83					0	0	0.248553	0	0
MPC1	51660	broad.mit.edu	37	6	166779514	166779514	+	Missense_Mutation	SNP	C	C	A	rs139776186	by1000genomes	TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr6:166779514C>A	ENST00000341756.6	-	4	374	c.253G>T	c.(253-255)Gca>Tca	p.A85S	MPC1_ENST00000487218.1_5'UTR|MPC1_ENST00000360961.6_Missense_Mutation_p.A85S					mitochondrial pyruvate carrier 1									p.A85S(1)									TCATTTGTTGCGTGGCATGCA	0.443000													11	61					2.27111e-07	2.5433e-07	0.411799	1	0
GPR112	139378	broad.mit.edu	37	X	135432428	135432428	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chrX:135432428T>C	ENST00000394143.1	+	6	6854	c.6563T>C	c.(6562-6564)gTt>gCt	p.V2188A	GPR112_ENST00000287534.4_Missense_Mutation_p.V2125A|GPR112_ENST00000412101.1_Missense_Mutation_p.V1983A|GPR112_ENST00000394141.1_Missense_Mutation_p.V1983A|GPR112_ENST00000370652.1_Missense_Mutation_p.V2188A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2188					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V2188A(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACATCCACTGTTCCTGGAGCC	0.418000													79	125					0	0	0.870114	0	0
CHM	1121	broad.mit.edu	37	X	85233802	85233802	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chrX:85233802T>C	ENST00000357749.2	-	4	312	c.283A>G	c.(283-285)Att>Gtt	p.I95V	CHM_ENST00000358786.4_Missense_Mutation_p.I95V|CHM_ENST00000537751.1_Intron|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	95					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.I95V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ACATGTTGAATAGTTTTGTCC	0.368000													20	42					0	0	0.667858	0	0
NEIL1	79661	broad.mit.edu	37	15	75641515	75641515	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr15:75641515G>T	ENST00000564784.1	+	3	898	c.269G>T	c.(268-270)cGc>cTc	p.R90L	NEIL1_ENST00000569035.1_Missense_Mutation_p.R90L|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Missense_Mutation_p.R90L			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	90					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	p.R90L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CTGGTGCCCCGCGAGGAGCTG	0.692000								Base excision repair (BER), DNA glycosylases					17	31					1.01871e-10	1.21838e-10	0.575678	1	0
BHMT	635	broad.mit.edu	37	5	78426859	78426859	+	Nonsense_Mutation	SNP	G	G	T	rs148233515		TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:78426859G>T	ENST00000274353.5	+	8	1248	c.1141G>T	c.(1141-1143)Gag>Tag	p.E381*	BHMT_ENST00000524080.1_Nonsense_Mutation_p.E228*|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	381					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.E381*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	AGGAACAGCCGAGCTGATGCA	0.473000													73	136					1.21826e-31	1.83969e-31	0.870114	1	0
KLHL38	340359	broad.mit.edu	37	8	124664403	124664403	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr8:124664403G>A	ENST00000325995.7	-	1	787	c.764C>T	c.(763-765)gCc>gTc	p.A255V	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	255								p.A255V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CTGTCTCTTGGCGGTCTCCAA	0.537000													23	116					0	0	0.624587	0	0
MSH3	4437	broad.mit.edu	37	5	80021292	80021292	+	Missense_Mutation	SNP	G	G	T	rs144798521	by1000genomes	TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:80021292G>T	ENST00000265081.6	+	9	1441	c.1361G>T	c.(1360-1362)cGa>cTa	p.R454L	MSH3_ENST00000512258.1_3'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	454					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	p.R445L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GACAGAATTCGAGTCGAAAGG	0.353000								Mismatch excision repair (MMR)					31	137					4.3181e-19	5.86869e-19	0.769981	1	0
PABPC3	5042	broad.mit.edu	37	13	25670895	25670895	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr13:25670895G>T	ENST00000281589.3	+	1	596	c.559G>T	c.(559-561)Gca>Tca	p.A187S		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	187					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.A187S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGAGCTAGGGCAAAAGAGTT	0.418000													40	67					1.04594e-18	1.40872e-18	0.819951	1	0
APOL5	80831	broad.mit.edu	37	22	36123064	36123064	+	Silent	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr22:36123064C>T	ENST00000249044.2	+	3	949	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	317					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	p.L317L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CTGGAAGCACCTGGAGGATGG	0.587000													36	89					0	0	0.796494	0	0
PTPN3	5774	broad.mit.edu	37	9	112141905	112141905	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr9:112141905G>C	ENST00000412145.1	-	21	4833	c.2280C>G	c.(2278-2280)taC>taG	p.Y760*	PTPN3_ENST00000446349.1_Nonsense_Mutation_p.Y715*|PTPN3_ENST00000262539.3_Nonsense_Mutation_p.Y737*|PTPN3_ENST00000374541.2_Nonsense_Mutation_p.Y891*|PTPN3_ENST00000394827.3_Nonsense_Mutation_p.Y359*	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	891	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	p.Y891*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACACAAACTTGTACTGGCTCT	0.433000													26	57					0	0	0.729181	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181002	57181002	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr4:57181002C>G	ENST00000504228.1	+	6	1439	c.1334C>G	c.(1333-1335)tCc>tGc	p.S445C	KIAA1211_ENST00000264229.6_Missense_Mutation_p.S445C|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S438C			Q6ZU35	K1211_HUMAN	KIAA1211	445	Glu-rich.							p.S445C(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGAGAACACTCCGAGGAGCCA	0.612000													13	23					0	0	0.457914	0	0
KAT2B	8850	broad.mit.edu	37	3	20164279	20164279	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr3:20164279G>A	ENST00000263754.4	+	9	1851	c.1396G>A	c.(1396-1398)Gca>Aca	p.A466T		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	466					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	p.A466T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GGACCCTGCAGCAATGCTTGG	0.532000													17	56					0	0	0.539581	0	0
ABAT	18	broad.mit.edu	37	16	8844285	8844285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr16:8844285G>T	ENST00000396600.2	+	5	1143	c.205G>T	c.(205-207)Gag>Tag	p.E69*	ABAT_ENST00000425191.2_Nonsense_Mutation_p.E69*|ABAT_ENST00000268251.8_Nonsense_Mutation_p.E69*|ABAT_ENST00000569156.1_Nonsense_Mutation_p.E69*|ABAT_ENST00000567812.1_Nonsense_Mutation_p.E84*	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	69					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	p.E69*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CAAGAATGCAGAGGCTGTGCA	0.458000													23	141					5.26018e-13	6.49915e-13	0.608945	1	0
GLP2R	9340	broad.mit.edu	37	17	9791285	9791285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr17:9791285G>T	ENST00000262441.5	+	12	1834	c.1321G>T	c.(1321-1323)Gga>Tga	p.G441*	GLP2R_ENST00000574745.1_Nonsense_Mutation_p.G261*	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	441					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.G441*(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TTTTGCCAATGGAGAGGTATG	0.502000													147	202					2.11276e-59	3.452e-59	0.870114	1	0
ZNF730	100129543	broad.mit.edu	37	19	23328612	23328612	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:23328612T>A	ENST00000597761.2	+	4	965	c.766T>A	c.(766-768)Tac>Aac	p.Y256N		NM_001277403.1	NP_001264332.1			zinc finger protein 730									p.Y256N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						AGAAAAACCCTACCAATGTGA	0.328000													4	3					0	0	0.150653	0	0
POLR3G	10622	broad.mit.edu	37	5	89802489	89802489	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:89802489G>C	ENST00000399107.1	+	7	783	c.583G>C	c.(583-585)Gag>Cag	p.E195Q	POLR3G_ENST00000504930.1_Missense_Mutation_p.E195Q	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	195	Glu-rich.				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity	p.E195Q(1)		cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		agagcaagaagaggTAATGGT	0.358000													10	68					0	0	0.435327	0	0
BCHE	590	broad.mit.edu	37	3	165547581	165547581	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr3:165547581C>G	ENST00000264381.3	-	2	1407	c.1241G>C	c.(1240-1242)cGt>cCt	p.R414P	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	414			R -> C (in BChE deficiency).		choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.R414H(1)|p.R414P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CAAGGCCTCACGGTAGTTTTC	0.408000													21	85					0	0	0.624587	0	0
KIAA0368	23392	broad.mit.edu	37	9	114176921	114176921	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr9:114176921T>A	ENST00000259335.4	-	20	2308	c.2309A>T	c.(2308-2310)tAc>tTc	p.Y770F	KIAA0368_ENST00000338205.5_Missense_Mutation_p.Y592F	NM_001080398.1	NP_001073867.1			KIAA0368									p.Y770F(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CATGCGCAAGTACAGAACGAT	0.502000													27	135					0	0	0.681144	0	0
C3orf30	152405	broad.mit.edu	37	3	118865094	118865094	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr3:118865094G>T	ENST00000295622.1	+	1	98	c.58G>T	c.(58-60)Gct>Tct	p.A20S		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	20								p.A20S(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAGCCCAGCCGCTCCCTCAAG	0.567000													12	32					8.13963e-23	1.15893e-22	0.575678	1	0
UBE2J1	51465	broad.mit.edu	37	6	90039406	90039406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr6:90039406C>A	ENST00000435041.2	-	8	1227	c.949G>T	c.(949-951)Gag>Tag	p.E317*		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	317						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.E317*(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TATTATAACTCAAAGTCAAAT	0.353000													18	37					2.35188e-11	2.84701e-11	0.539581	1	0
OPA3	80207	broad.mit.edu	37	19	46032694	46032694	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:46032694G>A	ENST00000323060.3	-	2	240	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W		NM_001017989.2	NP_001017989.2	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	55					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		ATTTTGGTCCGCATCTCCAGC	0.617000													5	186					0	0	0.184627	0	0
TEAD3	7005	broad.mit.edu	37	6	35445092	35445092	+	Silent	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr6:35445092G>T	ENST00000338863.7	-	8	815	c.588C>A	c.(586-588)ctC>ctA	p.L196L	TEAD3_ENST00000402886.3_Silent_p.L136L	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN	TEA domain family member 3	196	Pro-rich.|Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L196L(1)|p.L233L(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						ACTTACTGCTGAGCGTCGGCG	0.632000													8	41					3.86212e-05	4.16886e-05	0.361761	1	0
RP11-159L20.2	0	broad.mit.edu	37	14	31290898	31290898	+	RNA	SNP	T	T	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr14:31290898T>C	ENST00000554665.1	-	0	208																											AGGTACTCTGTGGATATCCTC	0.418000													12	22					0	0	0.411799	0	0
PRSS38	339501	broad.mit.edu	37	1	228004983	228004983	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:228004983T>A	ENST00000366757.3	+	3	409	c.385T>A	c.(385-387)Tgg>Agg	p.W129R		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	129	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.W129R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCACACCCAGTGGTATGAGGT	0.537000													107	62					0	0	0.870114	0	0
CNBD2	140894	broad.mit.edu	37	20	34572656	34572656	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr20:34572656C>A	ENST00000373973.3	+	6	845	c.672C>A	c.(670-672)gaC>gaA	p.D224E	CNBD2_ENST00000538900.1_Missense_Mutation_p.D224E|CNBD2_ENST00000349339.1_Missense_Mutation_p.D224E					cyclic nucleotide binding domain containing 2									p.D224E(1)									ATAAGCTGGACCAGGAAGTTC	0.448000													160	197					8.61383e-77	1.41513e-76	0.870114	1	0
DIP2C	22982	broad.mit.edu	37	10	532472	532472	+	Splice_Site	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr10:532472T>A	ENST00000280886.6	-	2	173		c.e2-2		DIP2C_ENST00000381496.3_Splice_Site	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)							nucleus	catalytic activity|transcription factor binding	p.?(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGATGTCACCTGCAAGAGAAG	0.448000													35	125					0	0	0.779181	0	0
WDR72	256764	broad.mit.edu	37	15	53992108	53992108	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr15:53992108C>A	ENST00000396328.1	-	13	1843	c.1604G>T	c.(1603-1605)gGt>gTt	p.G535V	WDR72_ENST00000360509.5_Missense_Mutation_p.G535V|WDR72_ENST00000559418.1_Missense_Mutation_p.G545V|WDR72_ENST00000557913.1_Missense_Mutation_p.G532V	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	535								p.G535V(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGAATGGTCACCGCACACACA	0.448000													18	124					2.94398e-08	3.33428e-08	0.557998	1	0
GMIP	51291	broad.mit.edu	37	19	19750925	19750925	+	Missense_Mutation	SNP	G	G	A	rs143480494		TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:19750925G>A	ENST00000203556.4	-	7	643	c.506C>T	c.(505-507)aCa>aTa	p.T169I	GMIP_ENST00000445806.2_Missense_Mutation_p.T169I|GMIP_ENST00000587238.1_Missense_Mutation_p.T169I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	169					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	p.T169I(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGGGCCACTGTCTCCATGGC	0.577000													20	44					0	0	0.592651	0	0
RTTN	25914	broad.mit.edu	37	18	67801779	67801779	+	Splice_Site	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr18:67801779T>A	ENST00000255674.6	-	23	3172		c.e23-2		RTTN_ENST00000437017.1_Splice_Site|RTTN_ENST00000454359.1_Splice_Site	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin								binding	p.?(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTAACAGACCTATTTCATAAA	0.333000													5	7					0	0	0.217242	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530480	125530480	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:125530480G>C	ENST00000431078.1	+	17	2999	c.2635G>C	c.(2635-2637)Gct>Cct	p.A879P		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	879	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.A879P(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)		CTATGTCCGGGCTGAGAGGAA	0.542000													47	154					0	0	0.870114	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43860487	43860487	+	Silent	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:43860487G>A	ENST00000389420.3	-	9	1334	c.1335C>T	c.(1333-1335)aaC>aaT	p.N445N	ADAMTS20_ENST00000553158.1_Silent_p.N445N	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	445	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding	p.N445N(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)		TCCGACTACAGTTTGACCAGC	0.294000													14	23					0	0	0.500413	0	0
RPL15	6138	broad.mit.edu	37	3	23960893	23960893	+	Silent	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr3:23960893T>A	ENST00000307839.5	+	4	1155	c.516T>A	c.(514-516)cgT>cgA	p.R172R	RPL15_ENST00000435882.1_Silent_p.R172R|RPL15_ENST00000413699.1_Silent_p.R172R|RPL15_ENST00000456530.2_Intron|RPL15_ENST00000415719.1_Silent_p.R172R|RPL15_ENST00000354811.5_Silent_p.R172R|NKIRAS1_ENST00000421515.2_Intron	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	172					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	p.R172R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						GAAAGAGCCGTGGCCTTGGAA	0.552000													12	65					0	0	0.435327	0	0
ZNF423	23090	broad.mit.edu	37	16	49671383	49671383	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr16:49671383C>T	ENST00000561648.1	-	4	1733	c.1680G>A	c.(1678-1680)atG>atA	p.M560I	ZNF423_ENST00000562520.1_Missense_Mutation_p.M500I|ZNF423_ENST00000562871.1_Missense_Mutation_p.M500I|ZNF423_ENST00000262383.2_Missense_Mutation_p.M560I|ZNF423_ENST00000567169.1_Missense_Mutation_p.M443I|ZNF423_ENST00000563137.2_Missense_Mutation_p.M500I|ZNF423_ENST00000535559.1_Missense_Mutation_p.M443I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	560					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.M560I(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)				AATAGACCTCCATGAAGGACT	0.562000													29	110					0	0	0.769981	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													6	80					0	0	0.217242	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493000													5	108					0	0	0.248553	0	0
L3HYPDH	112849	broad.mit.edu	37	14	59939767	59939767	+	Silent	SNP	T	T	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr14:59939767T>C	ENST00000247194.4	-	5	1094	c.981A>G	c.(979-981)gtA>gtG	p.V327V	L3HYPDH_ENST00000543619.1_5'UTR	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)									p.V327V(1)									CTTGTCCTGATACTTCCACTA	0.378000													34	78					0	0	0.812448	0	0
ANK1	286	broad.mit.edu	37	8	41563717	41563717	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr8:41563717C>T	ENST00000396942.1	-	18	2124	c.2041G>A	c.(2041-2043)Gtt>Att	p.V681I	ANK1_ENST00000265709.8_Missense_Mutation_p.V714I|ANK1_ENST00000347528.4_Missense_Mutation_p.V681I|ANK1_ENST00000396945.1_Missense_Mutation_p.V681I|ANK1_ENST00000379758.2_Missense_Mutation_p.V681I|ANK1_ENST00000352337.4_Missense_Mutation_p.V681I|ANK1_ENST00000289734.7_Missense_Mutation_p.V681I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	681	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.V714I(1)|p.V681I(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCACTGGAACGTGGCCTTCT	0.537000													11	42					0	0	0.539581	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	83					0	0	0.248553	0	0
CHRM3	1131	broad.mit.edu	37	1	240070932	240070932	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:240070932G>T	ENST00000255380.4	+	5	960	c.181G>T	c.(181-183)Gga>Tga	p.G61*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	61					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.G61*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGACCCTCTGGGAGGTCATAC	0.537000													15	202					4.7546e-09	5.53162e-09	0.500413	1	0
TRPM1	4308	broad.mit.edu	37	15	31329913	31329913	+	Splice_Site	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr15:31329913C>G	ENST00000542188.1	-	19	2936		c.e19+1		TRPM1_ENST00000256552.6_Splice_Site|TRPM1_ENST00000397795.2_Splice_Site|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.?(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGGCCTCACTGTGTAAAAC	0.373000													31	84					0	0	0.788014	0	0
IRGC	56269	broad.mit.edu	37	19	44222905	44222905	+	Silent	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:44222905G>A	ENST00000244314.5	+	2	394	c.195G>A	c.(193-195)gcG>gcA	p.A65A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	65						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.A65A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGTCGGGCGCGGGCAAGTCCT	0.701000													56	58					0	0	0.870114	0	0
LRTM2	654429	broad.mit.edu	37	12	1943779	1943779	+	Silent	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:1943779C>T	ENST00000543818.1	+	5	1847	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Silent_p.Y335Y|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Silent_p.Y335Y|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	335						integral to membrane		p.Y335Y(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCTGCATCTACGCCTCCCTCA	0.637000													30	37					0	0	0.750413	0	0
MYH2	4620	broad.mit.edu	37	17	10451096	10451096	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr17:10451096C>A	ENST00000245503.5	-	3	526	c.142G>T	c.(142-144)Gtc>Ttc	p.V48F	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.V48F|MYH2_ENST00000532183.1_Missense_Mutation_p.V48F	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	48	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.V48F(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTCCCTTTGACAAAGGATTCT	0.502000													93	121					4.21773e-46	6.78012e-46	0.870114	1	0
KCNH7	90134	broad.mit.edu	37	2	163241275	163241275	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:163241275G>T	ENST00000332142.5	-	13	2984	c.2885C>A	c.(2884-2886)gCa>gAa	p.A962E		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	962					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.A962E(1)		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)	GAGCCCAGATGCTTTCCCTAT	0.428000													47	153					9.45407e-15	1.18772e-14	0.870114	1	0
CDHR5	53841	broad.mit.edu	37	11	617417	617417	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr11:617417C>G	ENST00000358353.3	-	16	2794	c.2472G>C	c.(2470-2472)gaG>gaC	p.E824D	CDHR5_ENST00000397542.2_Missense_Mutation_p.E824D|CDHR5_ENST00000349570.7_Missense_Mutation_p.E630D			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	824					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E824D(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CGCCCTCGCCCTCATCGCCGC	0.692000													14	18					0	0	0.520397	0	0
SCN9A	6335	broad.mit.edu	37	2	167133845	167133845	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:167133845C>G	ENST00000303354.6	-	16	2865	c.2525G>C	c.(2524-2526)cGa>cCa	p.R842P	SCN9A_ENST00000409672.1_Missense_Mutation_p.R830P|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.R841P|SCN9A_ENST00000375387.4_Missense_Mutation_p.R842P			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	841						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R830P(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTTGAAGACTCGGAGCTAAAA	0.368000													17	60					0	0	0.557998	0	0
PRSS12	8492	broad.mit.edu	37	4	119217009	119217009	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr4:119217009A>G	ENST00000296498.3	-	10	2122	c.1840T>C	c.(1840-1842)Tcc>Ccc	p.S614P	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	614						membrane	scavenger receptor activity	p.S614P(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GATGAGAGGGACTCTGAAGCA	0.423000													9	51					0	0	0.500413	0	0
CACNA1C	775	broad.mit.edu	37	12	2800361	2800361	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:2800361T>C	ENST00000399655.1	+	47	6678	c.6413T>C	c.(6412-6414)cTg>cCg	p.L2138P	CACNA1C_ENST00000399644.1_Missense_Mutation_p.L2138P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L2173P|CACNA1C_ENST00000347598.4_Missense_Mutation_p.L2186P|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L2157P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L2157P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L2144P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L2163P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L2138P|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L2166P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L2157P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L2146P|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L2173P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L2138P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L2209P|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L2138P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L2179P|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L2146P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L2138P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L2209P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L2155P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L2158P	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2221					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.L2251P(1)|p.L2173P(1)|p.L1673P(1)|p.L2186P(1)|p.L2179P(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTCAGCAGCCTGTAGTGGGCG	0.587000													5	20					0	0	0.335167	0	0
CSRNP3	80034	broad.mit.edu	37	2	166532856	166532856	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:166532856C>A	ENST00000314499.7	+	6	819	c.443C>A	c.(442-444)gCc>gAc	p.A148D	CSRNP3_ENST00000409420.1_Missense_Mutation_p.A180D|CSRNP3_ENST00000342316.4_Missense_Mutation_p.A148D	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	148					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A148D(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TCAGAAGAAGCCAGCACTCTT	0.393000													123	335					1.4482e-55	2.35333e-55	0.870114	1	0
HECTD2	143279	broad.mit.edu	37	10	93220277	93220277	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr10:93220277C>A	ENST00000446394.1	+	3	462	c.362C>A	c.(361-363)cCa>cAa	p.P121Q	HECTD2_ENST00000298068.5_Missense_Mutation_p.P121Q|HECTD2_ENST00000371681.4_Missense_Mutation_p.P121Q			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	121					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.P121Q(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CCAGTCCTTCCAGAACCTATT	0.408000													29	76					5.90632e-09	6.84493e-09	0.760397	1	0
ZMAT5	55954	broad.mit.edu	37	22	30144421	30144421	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr22:30144421T>C	ENST00000397781.3	-	3	363	c.113A>G	c.(112-114)tAc>tGc	p.Y38C	ZMAT5_ENST00000344318.3_Missense_Mutation_p.Y38C	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	38					mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding	p.Y38C(2)		large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			GAACATGTCGTACCAGACCTT	0.577000													31	57					0	0	0.788014	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	10					0.00198382	0.00209598	0.248553	1	0
AMER3	205147	broad.mit.edu	37	2	131521154	131521154	+	Silent	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:131521154C>A	ENST00000423981.1	+	2	1619	c.1509C>A	c.(1507-1509)gcC>gcA	p.A503A	AMER3_ENST00000321420.4_Silent_p.A503A	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.A503A(1)									CTGAGCTCGCCATCACCATGG	0.687000													8	31					0.00621372	0.00638454	0.335167	1	0
RC3H2	54542	broad.mit.edu	37	9	125613500	125613500	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr9:125613500C>A	ENST00000373670.1	-	19	3840	c.3240G>T	c.(3238-3240)ttG>ttT	p.L1080F	RC3H2_ENST00000357244.2_Missense_Mutation_p.L1080F			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1080						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	p.L1080F(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCTGTATGTCCAAGATCTCCT	0.358000													35	126					5.8336e-16	7.42233e-16	0.779181	1	0
MAGEB6	158809	broad.mit.edu	37	X	26211902	26211902	+	Splice_Site	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chrX:26211902G>T	ENST00000379034.1	+	2	88		c.e2-1			NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6											breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTCCCATCCAGGTGCCAGCCT	0.557000													23	28					1.96895e-08	2.23846e-08	0.639603	1	0
C16orf71	146562	broad.mit.edu	37	16	4790184	4790184	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr16:4790184G>A	ENST00000299320.5	+	4	785	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.E117K	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	103								p.E103K(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						ATTGGCCACAGAACCTGGGTG	0.483000													10	275					0	0	0.361761	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328441	61328441	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr18:61328441G>C	ENST00000283752.5	-	2	153	c.10C>G	c.(10-12)Ctc>Gtc	p.L4V	SERPINB3_ENST00000332821.8_Missense_Mutation_p.L4V|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	4					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCTTCACTGAGTGAATTCATG	0.393000													5	287					0	0	0.184627	0	0
VPS13C	54832	broad.mit.edu	37	15	62239393	62239393	+	Splice_Site	SNP	A	A	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr15:62239393A>G	ENST00000261517.5	-	43	4948	c.4876_splice	c.e43+1	p.H1625_splice	VPS13C_ENST00000395896.4_Splice_Site_p.H1625_splice|VPS13C_ENST00000249837.3_Splice_Site_p.H1582_splice|VPS13C_ENST00000395898.3_Splice_Site_p.H1582_splice	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1625					protein localization			p.H1625H(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACTACTTACCATGTATTTTAA	0.313000													12	35					0	0	0.411799	0	0
LUC7L3	51747	broad.mit.edu	37	17	48823140	48823140	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr17:48823140G>T	ENST00000505658.1	+	8	942	c.753G>T	c.(751-753)aaG>aaT	p.K251N	LUC7L3_ENST00000393227.2_Missense_Mutation_p.K251N|LUC7L3_ENST00000240304.1_Missense_Mutation_p.K251N|LUC7L3_ENST00000544170.1_Missense_Mutation_p.K175N			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	251	Arg/Ser-rich.|Glu-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	p.K251N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAAAGGAGaagcaagaaagag	0.378000													18	20					1.00905e-13	1.26236e-13	0.575678	1	0
EP400	57634	broad.mit.edu	37	12	132490798	132490798	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:132490798C>T	ENST00000333577.4	+	15	3294	c.3185C>T	c.(3184-3186)gCg>gTg	p.A1062V	EP400_ENST00000389561.2_Missense_Mutation_p.A1026V|EP400_ENST00000389562.2_Missense_Mutation_p.A1025V|EP400_ENST00000330386.6_Missense_Mutation_p.A1026V|EP400_ENST00000332482.4_Missense_Mutation_p.A989V			Q96L91	EP400_HUMAN	E1A binding protein p400	1062	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.A1025V(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GACGTCACTGCGGTGGCTGAA	0.552000													11	107					0	0	0.500413	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139390	90139390	+	RNA	SNP	G	G	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:90139390G>C	ENST00000492446.1	+	0	188																											ATTAGCAGCTGGTTAGCCTGG	0.522000													80	266					0	0	0.870114	0	0
PEBP1	5037	broad.mit.edu	37	12	118577338	118577338	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:118577338G>T	ENST00000261313.2	+	3	680	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	PEBP1_ENST00000542939.1_3'UTR	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	110							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity	p.G110W(1)		ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTGGGCTCGGGGCCTCCCAA	0.522000													40	107					2.35958e-20	3.26628e-20	0.847076	1	0
ROBO2	6092	broad.mit.edu	37	3	77651390	77651390	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr3:77651390G>T	ENST00000461745.1	+	20	3784	c.2884G>T	c.(2884-2886)Gat>Tat	p.D962Y	ROBO2_ENST00000487694.3_Missense_Mutation_p.D978Y|ROBO2_ENST00000332191.8_Missense_Mutation_p.D962Y	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	962					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.D978Y(1)|p.D962Y(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGGCCAAGGGGATAAAACAGC	0.448000													33	85					2.42023e-17	3.18788e-17	0.779181	1	0
OR4S2	219431	broad.mit.edu	37	11	55419046	55419046	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr11:55419046C>A	ENST00000312422.2	+	1	667	c.667C>A	c.(667-669)Ctg>Atg	p.L223M		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L223M(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CCTAGTTTCCCTGAGAAAGCA	0.478000													100	45					2.67636e-39	4.18969e-39	0.870114	1	0
FRMPD1	22844	broad.mit.edu	37	9	37692711	37692711	+	Missense_Mutation	SNP	C	C	G	rs142418624		TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr9:37692711C>G	ENST00000539465.1	+	2	666	c.73C>G	c.(73-75)Ctt>Gtt	p.L25V	FRMPD1_ENST00000377765.3_Missense_Mutation_p.L25V|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	25						cytoskeleton|cytosol|plasma membrane		p.L25V(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGCAAGATGGCTTCGGCGCTC	0.512000													47	127					0	0	0.870114	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763196	77763196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr8:77763196G>T	ENST00000521891.2	+	10	4487	c.4039G>T	c.(4039-4041)Gag>Tag	p.E1347*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E1302*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E1321*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E1302*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1302						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1347*(2)		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)			AAAGAATGAGGAGCAGAAACC	0.403000										HNSCC(33;0.089)			12	32					6.40141e-05	6.88497e-05	0.387290	1	0
RPL10L	140801	broad.mit.edu	37	14	47120353	47120353	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr14:47120353C>G	ENST00000298283.3	-	1	675	c.587G>C	c.(586-588)gGa>gCa	p.G196A		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	196					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.G196A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GTACTTGACTCCACAACCATC	0.507000													31	95					0	0	0.760397	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174671252	174671252	+	Splice_Site	SNP	A	A	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:174671252A>T	ENST00000251507.4	+	17	2201	c.2025_splice	c.e17-1	p.E676_splice	RABGAP1L_ENST00000367687.1_Splice_Site_p.E2_splice|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000347255.2_Splice_Site_p.E3_splice|RABGAP1L_ENST00000325589.5_5'UTR	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	676	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	p.E3V(1)|p.E676V(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GACTTTTAGGAACAGCTACCG	0.428000													16	143					0	0	0.520397	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579492	140579492	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:140579492G>T	ENST00000354757.3	+	1	145	c.145G>T	c.(145-147)Gca>Tca	p.A49S	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		49	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A49S(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCAATCTGGCAAAGGACCT	0.522000													29	143					6.00712e-18	7.94748e-18	0.760397	1	0
TCF23	150921	broad.mit.edu	37	2	27375674	27375674	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:27375674C>A	ENST00000296096.5	+	3	714	c.584C>A	c.(583-585)cCt>cAt	p.P195H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	195					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		p.P195H(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCAAGTCCCTGGAGAGGCA	0.547000													89	143					2.5264e-35	3.87382e-35	0.870114	1	0
TRPM2	7226	broad.mit.edu	37	21	45826567	45826567	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr21:45826567C>A	ENST00000397928.1	+	19	3326	c.2881C>A	c.(2881-2883)Cgc>Agc	p.R961S	TRPM2_ENST00000300482.5_Missense_Mutation_p.R961S|TRPM2_ENST00000397932.2_Missense_Mutation_p.R961S|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R941S	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	961						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.R961S(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						CCACAACGAGCGCCGGGTGGA	0.627000													6	12					0.00829132	0.00849008	0.361761	1	0
GOLGA6D	653643	broad.mit.edu	37	15	75586689	75586689	+	Splice_Site	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr15:75586689T>A	ENST00000434739.3	+	18	1996	c.1954_splice	c.e18-1	p.V652_splice		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	652										kidney(1)|lung(1)	2						CTCTCCGAAGTTTTTTATGAA	0.617000													4	48					0	0	0.387290	0	0
POLA1	5422	broad.mit.edu	37	X	24844572	24844572	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chrX:24844572G>A	ENST00000379068.3	+	32	3633	c.3590G>A	c.(3589-3591)aGg>aAg	p.R1197K	POLA1_ENST00000379059.3_Missense_Mutation_p.R1191K			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1191					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	p.R1191K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GCAAGTCAGAGGGCCTATGCG	0.468000													12	10					0	0	0.520397	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554050	140554050	+	Missense_Mutation	SNP	C	C	T	rs148889209		TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:140554050C>T	ENST00000231137.3	+	1	1808	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		545	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A545V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAGCGAGGCGCTGGTGCGC	0.706000													30	72					0	0	0.796494	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607299	84607299	+	Silent	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr9:84607299C>T	ENST00000344803.2	+	4	1961	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.G638G(2)									GTTTGTGGGGCTTACCCTCTG	0.478000													5	108					0	0	0.184627	0	0
DIO3OS	64150	broad.mit.edu	37	14	102026666	102026666	+	RNA	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr14:102026666C>A	ENST00000408206.1	-	0	93					NR_031649.1																						TTCGGGCGCTCCAGTCTCGAC	0.711000													6	10					0.0293803	0.02988	0.248553	1	0
AMZ1	155185	broad.mit.edu	37	7	2748319	2748319	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr7:2748319C>A	ENST00000312371.4	+	4	938	c.570C>A	c.(568-570)agC>agA	p.S190R	AMZ1_ENST00000407112.1_Missense_Mutation_p.S190R|AMZ1_ENST00000489665.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	190							metallopeptidase activity|zinc ion binding	p.S190R(1)		breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGGCCTGGAGCTTCACCTTCA	0.642000													101	101					3.46837e-39	5.40127e-39	0.870114	1	0
LACRT	90070	broad.mit.edu	37	12	55025579	55025579	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:55025579C>A	ENST00000257867.4	-	4	351	c.298G>T	c.(298-300)Gca>Tca	p.A100S	LACRT_ENST00000547511.1_Missense_Mutation_p.A89S	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	100					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding	p.A100S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CCTGCTTTTGCAAGGGCTTGT	0.418000													90	240					2.12943e-44	3.40482e-44	0.870114	1	0
TIMP1	7076	broad.mit.edu	37	X	47444781	47444781	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chrX:47444781C>T	ENST00000456754.2	+	4	454	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	TIMP1_ENST00000218388.4_Intron|TIMP1_ENST00000377018.2_Silent_p.R50R|TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000295987.7_Intron|SYN1_ENST00000340666.4_Intron			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	0	NTR.				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						CCCTGGGGCGCGGCCTAGCAA	0.627000													5	10					0	0	0.184627	0	0
SYNJ1	8867	broad.mit.edu	37	21	34067374	34067374	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr21:34067374G>C	ENST00000382499.2	-	5	814	c.815C>G	c.(814-816)aCa>aGa	p.T272R	SYNJ1_ENST00000322229.7_Missense_Mutation_p.T233R|SYNJ1_ENST00000433931.2_Missense_Mutation_p.T272R|SYNJ1_ENST00000357345.3_Missense_Mutation_p.T233R|SYNJ1_ENST00000382491.3_Missense_Mutation_p.T233R	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	233	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TACCTGTTCTGTTTCTACAAA	0.338000													3	142					0	0	0.115264	0	0
NKX2-5	1482	broad.mit.edu	37	5	172659670	172659670	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:172659670C>T	ENST00000329198.4	-	2	1150	c.877G>A	c.(877-879)Gtg>Atg	p.V293M		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	293					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	p.V293M(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCGAAGTTCACGAAGTTGTTG	0.682000													17	26					0	0	0.592651	0	0
ZBED4	9889	broad.mit.edu	37	22	50280790	50280790	+	Silent	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr22:50280790G>A	ENST00000216268.4	+	2	3957	c.3480G>A	c.(3478-3480)ttG>ttA	p.L1160L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1160						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.L1160L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TTATCTTTTTGAAAGTGAATC	0.478000													25	23					0	0	0.654019	0	0
ANXA6	309	broad.mit.edu	37	5	150483150	150483150	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:150483150G>A	ENST00000354546.5	-	25	2170	c.1943C>T	c.(1942-1944)tCt>tTt	p.S648F	ANXA6_ENST00000356496.5_Missense_Mutation_p.S642F|ANXA6_ENST00000377751.5_Missense_Mutation_p.S305F|ANXA6_ENST00000521512.1_Missense_Mutation_p.S435F|ANXA6_ENST00000523714.1_Missense_Mutation_p.S616F	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	648						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	p.S648F(1)|p.S694F(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGTGGAGAGACTTGTCATA	0.483000													7	30					0	0	0.278610	0	0
SERPINA3	12	broad.mit.edu	37	14	95090004	95090004	+	Silent	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr14:95090004C>T	ENST00000553947.1	+	8	2088	c.1200C>T	c.(1198-1200)gcC>gcT	p.A400A	SERPINA3_ENST00000393080.4_Silent_p.A375A|SERPINA3_ENST00000467132.1_Silent_p.A375A|SERPINA3_ENST00000393078.3_Silent_p.A375A|SERPINA3_ENST00000482740.1_Silent_p.A157A			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	375					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.A375A(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CATCTGCTGCCACAGCAGTCA	0.512000													37	103					0	0	0.819951	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117359591	117359591	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr7:117359591C>A	ENST00000160373.3	-	21	4702	c.4611G>T	c.(4609-4611)atG>atT	p.M1537I		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1537								p.M1537I(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGCTGGAGCACATGCTCTGAA	0.478000													41	114					6.21074e-16	7.86869e-16	0.859065	1	0
CHAC2	494143	broad.mit.edu	37	2	54001324	54001324	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:54001324G>A	ENST00000295304.4	+	3	312	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000263634.3_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	73										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGGAAAGGAAGAAGAAGTAAA	0.368000													5	248					0	0	0.184627	0	0
OR14C36	127066	broad.mit.edu	37	1	248512355	248512355	+	Silent	SNP	G	G	C	rs146830794		TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:248512355G>C	ENST00000317861.1	+	1	279	c.279G>C	c.(277-279)gcG>gcC	p.A93A		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A93A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTTCTAAGGCGGGATGTGTAG	0.478000													19	51					0	0	0.575678	0	0
TMEM55A	55529	broad.mit.edu	37	8	92033633	92033633	+	Splice_Site	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr8:92033633C>G	ENST00000285419.3	-	2	421		c.e2-1			NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A							integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	p.?(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GGGAGCTCCGCTGAAAAGATA	0.413000													25	90					0	0	0.681144	0	0
FASTKD5	60493	broad.mit.edu	37	20	3127954	3127954	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr20:3127954G>A	ENST00000380266.3	-	2	2084	c.1763C>T	c.(1762-1764)tCt>tTt	p.S588F	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	588					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.S588F(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CTCTAAGTCAGAAGATCGGGT	0.458000													28	163					0	0	0.681144	0	0
OR1K1	392392	broad.mit.edu	37	9	125563312	125563312	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr9:125563312C>T	ENST00000277309.2	+	1	943	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A304V(1)		endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GCACTCCGAGCCCTTCTCATT	0.582000													14	68					0	0	0.520397	0	0
IARS	3376	broad.mit.edu	37	9	95015732	95015732	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr9:95015732T>A	ENST00000375643.3	-	21	2407	c.2141A>T	c.(2140-2142)tAt>tTt	p.Y714F	IARS_ENST00000447699.2_Missense_Mutation_p.Y604F|IARS_ENST00000443024.2_Missense_Mutation_p.Y714F|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	714					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	p.Y714F(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ATAAAGCCTATAAGCTAAAAG	0.463000													4	57					0	0	0.184627	0	0
OR1A1	8383	broad.mit.edu	37	17	3119264	3119264	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr17:3119264C>T	ENST00000304094.1	+	1	350	c.350C>T	c.(349-351)gCa>gTa	p.A117V		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A117V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						ATTTTGGCTGCAATGGCATAT	0.478000													25	82					0	0	0.693898	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744543	140744543	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:140744543G>T	ENST00000518069.1	+	1	646	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.D216Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGCTTTAGATGGCGGAGA	0.577000													21	72					1.96895e-08	2.23846e-08	0.639603	1	0
TRAC	28755	broad.mit.edu	37	14	23019579	23019579	+	RNA	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr14:23019579T>A	ENST00000478163.3	+	0	397																											TTTAATCTGCTCATGACGCTG	0.547000													18	74					0	0	0.639603	0	0
GRIK2	2898	broad.mit.edu	37	6	102124642	102124642	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr6:102124642A>T	ENST00000369138.1	+	4	1176	c.686A>T	c.(685-687)gAt>gTt	p.D229V	GRIK2_ENST00000358361.3_Missense_Mutation_p.D229V|GRIK2_ENST00000369137.3_Missense_Mutation_p.D229V|GRIK2_ENST00000318991.6_Missense_Mutation_p.D229V|GRIK2_ENST00000413795.1_Missense_Mutation_p.D229V|GRIK2_ENST00000421544.1_Missense_Mutation_p.D229V|GRIK2_ENST00000369134.4_Missense_Mutation_p.D180V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	229					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.D229V(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTAATCTTTGATTGTAGCCAT	0.338000													6	28					0	0	0.278610	0	0
SMG1	23049	broad.mit.edu	37	16	18882139	18882139	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr16:18882139C>T	ENST00000446231.2	-	17	2786	c.2374G>A	c.(2374-2376)Gat>Aat	p.D792N	SMG1_ENST00000389467.3_Missense_Mutation_p.D792N			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	792	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.D792N(1)|p.D788N(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAAAGATCATCTGGCAAGGAA	0.373000													4	11					0	0	0.150653	0	0
EOMES	8320	broad.mit.edu	37	3	27759217	27759217	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr3:27759217G>A	ENST00000295743.4	-	6	1608	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	EOMES_ENST00000537516.1_Missense_Mutation_p.R193W|EOMES_ENST00000449599.1_Missense_Mutation_p.R488W			O95936	EOMES_HUMAN	eomesodermin	469					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R469W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACGCCGTACCGACCTCCAGGG	0.493000													20	117					0	0	0.575678	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73164047	73164047	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr4:73164047G>T	ENST00000286657.4	-	18	2573	c.2537C>A	c.(2536-2538)aCt>aAt	p.T846N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	846	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.T846N(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCACTCAAAAGTATCTAATTC	0.378000													21	47					7.4402e-23	1.06441e-22	0.667858	1	0
PRPF38A	84950	broad.mit.edu	37	1	52878240	52878240	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:52878240G>T	ENST00000257181.9	+	5	739	c.553G>T	c.(553-555)Gaa>Taa	p.E185*	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	185					mRNA processing|RNA splicing	spliceosomal complex		p.E185*(1)		cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						TAGTGCTCTGGAAGAGGACAT	0.473000													8	60					0.00448238	0.0046698	0.307466	1	0
DOCK7	85440	broad.mit.edu	37	1	62941022	62941022	+	Splice_Site	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:62941022T>A	ENST00000251157.5	-	46	5962	c.5928_splice	c.e46-1	p.I1977_splice	DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000340370.5_Splice_Site_p.I1957_splice	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1988	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.I1957F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTTAAGATGATCTGAGTAAAA	0.348000													16	52					0	0	0.539581	0	0
DRD1	1812	broad.mit.edu	37	5	174870043	174870043	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:174870043G>T	ENST00000393752.2	-	2	1052	c.60C>A	c.(58-60)ttC>ttA	p.F20L		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	20					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	p.F20L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TACGAACAGAGAAGTCCCTCT	0.577000													64	123					6.52717e-41	1.03261e-40	0.870114	1	0
ERN2	10595	broad.mit.edu	37	16	23718374	23718374	+	Silent	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr16:23718374C>T	ENST00000256797.4	-	5	645	c.477G>A	c.(475-477)ctG>ctA	p.L159L	ERN2_ENST00000457008.2_Silent_p.L111L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	111					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	p.L159L(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGGCATGAACCAGCTCAGGGA	0.552000													11	75					0	0	0.387290	0	0
ARHGEF37	389337	broad.mit.edu	37	5	148989214	148989214	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:148989214G>T	ENST00000333677.6	+	4	577	c.414G>T	c.(412-414)gaG>gaT	p.E138D		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	138	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.E138D(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						ACCGGAAGGAGCCGGAGCTGC	0.577000													56	93					9.5628e-27	1.40851e-26	0.870114	1	0
COQ6	51004	broad.mit.edu	37	14	74416829	74416829	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr14:74416829G>T	ENST00000394026.4	+	1	201	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C	FAM161B_ENST00000534936.1_5'UTR|COQ6_ENST00000238709.4_5'UTR|FAM161B_ENST00000286544.3_Silent_p.A30A	NM_182480.2	NP_872286.2	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	102					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	p.A30A(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TTCTAGCTTTGGCGTCTGGTT	0.597000													17	30					9.16793e-09	1.05838e-08	0.520397	1	0
TRIM9	114088	broad.mit.edu	37	14	51475811	51475811	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr14:51475811G>T	ENST00000298355.3	-	5	2414	c.1293C>A	c.(1291-1293)ttC>ttA	p.F431L	TRIM9_ENST00000338969.5_Missense_Mutation_p.F431L|TRIM9_ENST00000360392.4_Missense_Mutation_p.F431L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	431	COS.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.F431L(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCACTTGCACGAAATCCAGCT	0.517000													30	98					8.88839e-20	1.22471e-19	0.750413	1	0
ARHGEF10L	55160	broad.mit.edu	37	1	17990971	17990971	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:17990971C>G	ENST00000361221.3	+	26	3049	c.2890C>G	c.(2890-2892)Ccc>Gcc	p.P964A	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P737A|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P667A|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.P959A|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P925A|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P925A	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	964					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.P964A(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GGAGAGCCCTCCCGTGTGCCT	0.697000													3	26					0	0	0.150653	0	0
PTPRT	11122	broad.mit.edu	37	20	41514452	41514452	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr20:41514452G>T	ENST00000373198.3	-	2	444	c.209C>A	c.(208-210)cCc>cAc	p.P70H	PTPRT_ENST00000373193.3_Missense_Mutation_p.P70H|PTPRT_ENST00000373201.1_Missense_Mutation_p.P70H|PTPRT_ENST00000373184.1_Missense_Mutation_p.P70H|PTPRT_ENST00000356100.2_Missense_Mutation_p.P70H|PTPRT_ENST00000373190.1_Missense_Mutation_p.P70H|PTPRT_ENST00000373187.1_Missense_Mutation_p.P70H	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	70	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.P70H(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CATACCTGTGGGCACTGCCTG	0.493000													17	79					4.7546e-09	5.53162e-09	0.500413	1	0
CGA	1081	broad.mit.edu	37	6	87795510	87795510	+	Silent	SNP	C	C	T	rs142673245		TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr6:87795510C>T	ENST00000369582.2	-	4	415	c.315G>A	c.(313-315)gcG>gcA	p.A105A		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	105					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	p.A105A(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TGCAGTGGCACGCCGTGTGGT	0.363000													4	25					0	0	0.217242	0	0
COL3A1	1281	broad.mit.edu	37	2	189871100	189871100	+	Silent	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:189871100T>A	ENST00000304636.3	+	43	3293	c.3123T>A	c.(3121-3123)ggT>ggA	p.G1041G	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1041	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G1041G(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GCTCTCCTGGTGCCCCTGGCG	0.478000													24	61					0	0	0.681144	0	0
HDAC5	10014	broad.mit.edu	37	17	42169750	42169750	+	Splice_Site	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr17:42169750C>A	ENST00000225983.6	-	8	1244	c.922_splice	c.e8+1	p.G307_splice	HDAC5_ENST00000586802.1_Splice_Site_p.G306_splice|HDAC5_ENST00000336057.5_Splice_Site_p.G306_splice|HDAC5_ENST00000393622.2_Splice_Site_p.G306_splice			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	306					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.G306G(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		AGCCCTTACCCCCAGGCCCGG	0.577000													21	81					6.32553e-13	7.78327e-13	0.681144	1	0
DCDC1	341019	broad.mit.edu	37	11	30926700	30926700	+	Silent	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr11:30926700C>T	ENST00000597505.1	-	29	4115	c.4116G>A	c.(4114-4116)tcG>tcA	p.S1372S	DCDC1_ENST00000339794.5_Silent_p.S451S|DCDC1_ENST00000406071.2_Silent_p.S107S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.S59S(3)|p.S451S(3)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTTGTCACACGACAAATCAA	0.363000													9	7					0	0	0.307466	0	0
KCNH5	27133	broad.mit.edu	37	14	63483638	63483638	+	Silent	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr14:63483638C>A	ENST00000322893.7	-	2	376	c.108G>T	c.(106-108)gtG>gtT	p.V36V	KCNH5_ENST00000394968.1_5'UTR|KCNH5_ENST00000394964.2_5'UTR|KCNH5_ENST00000420622.2_Silent_p.V36V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	36	PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.V36V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAGGCCAATCCACAATCTGGG	0.383000													19	40					1.33834e-09	1.57544e-09	0.557998	1	0
ADCY10	55811	broad.mit.edu	37	1	167873154	167873154	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:167873154A>G	ENST00000367851.4	-	3	408	c.224T>C	c.(223-225)cTc>cCc	p.L75P	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	75	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GTGGTAGTTGAGGATCTCCAC	0.418000													3	263					0	0	0.115264	0	0
FGFR4	2264	broad.mit.edu	37	5	176517431	176517431	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:176517431G>T	ENST00000292408.4	+	3	377	c.132G>T	c.(130-132)gaG>gaT	p.E44D	FGFR4_ENST00000393637.1_Missense_Mutation_p.E44D|FGFR4_ENST00000507708.1_3'UTR|FGFR4_ENST00000393648.2_Missense_Mutation_p.E44D|FGFR4_ENST00000502906.1_Missense_Mutation_p.E44D|FGFR4_ENST00000292410.3_Missense_Mutation_p.E44D	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	44	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	p.E44D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	AAGAGCAGGAGCTGACAGTAG	0.682000										TSP Lung(9;0.080)			33	41					1.07121e-22	1.51797e-22	0.827153	1	0
MUC16	94025	broad.mit.edu	37	19	9068625	9068625	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:9068625C>A	ENST00000397910.4	-	3	19024	c.18821G>T	c.(18820-18822)cGt>cTt	p.R6274L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6276	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R6274L(2)|p.R1907L(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						TTGAGGTGAACGAGTCACAGG	0.483000													42	97					3.77016e-25	5.49891e-25	0.864702	1	0
SFXN1	94081	broad.mit.edu	37	5	174936182	174936182	+	Silent	SNP	A	A	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:174936182A>T	ENST00000321442.5	+	3	566	c.312A>T	c.(310-312)acA>acT	p.T104T	SFXN1_ENST00000502393.1_Silent_p.T104T	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	104					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	p.T104T(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGACCATCACAGGTTGTATGA	0.353000													78	279					0	0	0.870114	0	0
SPPL2A	84888	broad.mit.edu	37	15	51017504	51017504	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr15:51017504C>A	ENST00000261854.5	-	12	1437	c.1163G>T	c.(1162-1164)aGa>aTa	p.R388I	SPPL2A_ENST00000559293.1_5'UTR	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	388						integral to membrane	aspartic-type endopeptidase activity	p.R388I(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TTTTGGTACTCTGATGACTAC	0.358000													44	88					3.05275e-18	4.07487e-18	0.864702	1	0
ABCA13	154664	broad.mit.edu	37	7	48443360	48443360	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr7:48443360C>T	ENST00000435803.1	+	39	11978	c.11954C>T	c.(11953-11955)tCc>tTc	p.S3985F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3985	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.S3985F(1)|p.S3930F(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGGAAGCTCTCCCTTGGCATT	0.532000													35	48					0	0	0.819951	0	0
TNRC6A	27327	broad.mit.edu	37	16	24788604	24788604	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr16:24788604C>G	ENST00000395799.3	+	5	643	c.514C>G	c.(514-516)Cag>Gag	p.Q172E	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q172E	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	172					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	p.Q172E(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GTTAAACAGCCAGTCAGAAAG	0.443000													64	275					0	0	0.870114	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488821	25488821	+	RNA	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr15:25488821C>A	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA	NR_003343.1																						AAATCATGCTCAATAGGATTA	0.502000													177	414					1.42273e-83	2.35026e-83	0.870114	1	0
TGOLN2	10618	broad.mit.edu	37	2	85554633	85554633	+	Silent	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:85554633C>T	ENST00000377386.3	-	2	684	c.222G>A	c.(220-222)gcG>gcA	p.A74A	TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A74A|TGOLN2_ENST00000409232.3_Silent_p.A74A|TGOLN2_ENST00000398263.2_Silent_p.A74A			O43493	TGON2_HUMAN	trans-golgi network protein 2	74	14 X 14 AA tandem repeats.			A -> P (in Ref. 4; BAD96783).		integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CTGGGGTCTGCGCCTCCGCAC	0.607000													7	780					0	0	0.278610	0	0
ANAPC7	51434	broad.mit.edu	37	12	110825555	110825555	+	Silent	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:110825555G>A	ENST00000455511.3	-	5	765	c.765C>T	c.(763-765)atC>atT	p.I255I	ANAPC7_ENST00000450008.2_Silent_p.I255I|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	255					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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	p.I221I(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						AGATGGTACTGATTGCTCTTG	0.438000													19	74					0	0	0.575678	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607291	84607291	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr9:84607291T>G	ENST00000344803.2	+	4	1953	c.1906T>G	c.(1906-1908)Ttg>Gtg	p.L636V		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GCAGGAAAGTTTGTGGGGCTT	0.478000													3	113					0	0	0.115264	0	0
KLK7	5650	broad.mit.edu	37	19	51483127	51483127	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:51483127C>A	ENST00000391807.1	-	5	624	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	KLK7_ENST00000597707.1_Missense_Mutation_p.D103Y|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_Missense_Mutation_p.D62Y|KLK7_ENST00000595820.1_Missense_Mutation_p.D175Y	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	175	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	p.D175Y(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TTCGTGCAGTCCTGGGGGGAG	0.577000													11	13					1.58986e-06	1.76063e-06	0.361761	1	0
NALCN	259232	broad.mit.edu	37	13	101735223	101735223	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr13:101735223C>A	ENST00000251127.6	-	33	3783	c.3702G>T	c.(3700-3702)gaG>gaT	p.E1234D		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1234						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.E1234V(1)		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)					TCACCGGGTCCTCGACGTCCC	0.522000													35	45					3.62531e-18	4.81763e-18	0.796494	1	0
BCORL1	63035	broad.mit.edu	37	X	129148736	129148736	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chrX:129148736C>G	ENST00000540052.1	+	3	2032	c.1988C>G	c.(1987-1989)tCt>tGt	p.S663C	BCORL1_ENST00000218147.7_Missense_Mutation_p.S663C|BCORL1_ENST00000359304.2_Missense_Mutation_p.S663C|BCORL1_ENST00000303743.5_Missense_Mutation_p.S663C	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	663					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.S663C(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACAGTCCTGTCTAGGTCTCAG	0.612000													34	81					0	0	0.796494	0	0
ZIC4	84107	broad.mit.edu	37	3	147114235	147114235	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr3:147114235C>T	ENST00000383075.3	-	3	604	c.92G>A	c.(91-93)gGc>gAc	p.G31D	ZIC4_ENST00000484399.1_Missense_Mutation_p.G31D|ZIC4_ENST00000425731.3_Missense_Mutation_p.G69D|ZIC4_ENST00000473123.1_Missense_Mutation_p.G31D|ZIC4_ENST00000525172.2_Missense_Mutation_p.G81D|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	31						nucleus	DNA binding|zinc ion binding	p.G31D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGCTGGGGGCCATGGTGTCC	0.692000													9	45					0	0	0.387290	0	0
FAT3	120114	broad.mit.edu	37	11	92495049	92495049	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr11:92495049C>A	ENST00000298047.6	+	4	3714	c.3697C>A	c.(3697-3699)Cca>Aca	p.P1233T	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Missense_Mutation_p.P1083T|FAT3_ENST00000409404.2_Missense_Mutation_p.P1233T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1233	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P1233T(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)				TGGTCCCTCTCCAAAACAGTC	0.438000										TCGA Ovarian(4;0.039)			37	288					1.60099e-16	2.06334e-16	0.804634	1	0
ZNF676	163223	broad.mit.edu	37	19	22363671	22363671	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:22363671C>T	ENST00000397121.2	-	3	1165	c.848G>A	c.(847-849)tGt>tAt	p.C283Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C283Y(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTCTTCACATTTGTAGGG	0.413000													36	82					0	0	0.847076	0	0
ENTPD6	955	broad.mit.edu	37	20	25187965	25187965	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr20:25187965G>T	ENST00000360031.2	+	3	487	c.305G>T	c.(304-306)gGg>gTg	p.G102V	ENTPD6_ENST00000433259.2_Missense_Mutation_p.G103V|ENTPD6_ENST00000354989.5_Missense_Mutation_p.G86V|ENTPD6_ENST00000376652.4_Missense_Mutation_p.G103V	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	103						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	p.G103V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GTCTTCTACGGGATCATGTTT	0.662000													18	78					4.96729e-08	5.6046e-08	0.575678	1	0
PCDH11X	27328	broad.mit.edu	37	X	91134263	91134263	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chrX:91134263C>G	ENST00000373094.1	+	2	3869	c.3024C>G	c.(3022-3024)caC>caG	p.H1008Q	PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1008Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1008Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.H1008Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1008Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.H1008Q|PCDH11X_ENST00000504220.1_Missense_Mutation_p.H1008Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1008Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1008Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1008					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.H1008Q(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						TGTCCGTACACACCAGACCGG	0.403000													53	131					0	0	0.870114	0	0
ZNF10	7556	broad.mit.edu	37	12	133727658	133727658	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:133727658G>T	ENST00000248211.6	+	3	300	c.78G>T	c.(76-78)gaG>gaT	p.E26D	ZNF10_ENST00000540927.1_3'UTR|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.E26D|ZNF10_ENST00000402932.2_Missense_Mutation_p.E26D|ZNF268_ENST00000416488.1_Missense_Mutation_p.E26D|ZNF10_ENST00000426665.2_Missense_Mutation_p.E26D	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E26D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCACCAGGGAGGAGTGGAAGC	0.458000													41	95					2.95478e-19	4.03415e-19	0.840704	1	0
TMEM132B	114795	broad.mit.edu	37	12	126004076	126004076	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:126004076G>T	ENST00000299308.3	+	4	1191	c.1183G>T	c.(1183-1185)Gtg>Ttg	p.V395L		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	395						integral to membrane		p.V395L(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TACCTGGCAGGTGGAGTACCC	0.527000													45	104					3.54909e-21	4.95877e-21	0.859065	1	0
KCNH6	81033	broad.mit.edu	37	17	61619723	61619723	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr17:61619723G>T	ENST00000583023.1	+	9	2087	c.2076G>T	c.(2074-2076)gaG>gaT	p.E692D	KCNH6_ENST00000581784.1_Missense_Mutation_p.E639D|KCNH6_ENST00000456941.2_Missense_Mutation_p.E639D|KCNH6_ENST00000314672.5_Missense_Mutation_p.E692D	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	692					regulation of transcription, DNA-dependent|signal transduction			p.E692D(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ATCTGCTGGAGGTGCTGGACA	0.632000													50	95					6.32628e-17	8.2963e-17	0.870114	1	0
C17orf98	388381	broad.mit.edu	37	17	36991511	36991511	+	Silent	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr17:36991511G>A	ENST00000398575.4	-	3	461	c.396C>T	c.(394-396)cgC>cgT	p.R132R		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	132								p.R132R(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						GAGTGTTCCTGCGGTAGCCAA	0.542000													28	119					0	0	0.769981	0	0
DMRT2	10655	broad.mit.edu	37	9	1053762	1053762	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr9:1053762G>A	ENST00000259622.6	+	2	566	c.566G>A	c.(565-567)cGc>cAc	p.R189H	DMRT2_ENST00000382251.3_Missense_Mutation_p.R189H|DMRT2_ENST00000412350.2_Missense_Mutation_p.R189H|DMRT2_ENST00000302441.6_Missense_Mutation_p.R189H|DMRT2_ENST00000358146.2_Missense_Mutation_p.R189H|DMRT2_ENST00000382255.3_Missense_Mutation_p.R189H			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	189					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AATTTCGAGCGCAAAGCTGTG	0.448000													4	101					0	0	0.184627	0	0
PTPRD	5789	broad.mit.edu	37	9	8518211	8518211	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr9:8518211C>T	ENST00000381196.4	-	18	1723	c.1180G>A	c.(1180-1182)Gtt>Att	p.V394I	PTPRD_ENST00000486161.1_Missense_Mutation_p.V394I|PTPRD_ENST00000356435.5_Missense_Mutation_p.V394I|PTPRD_ENST00000355233.5_Missense_Mutation_p.V394I|PTPRD_ENST00000397606.3_Missense_Mutation_p.V384I|PTPRD_ENST00000397611.3_Missense_Mutation_p.V391I|PTPRD_ENST00000358503.5_Missense_Mutation_p.V381I|PTPRD_ENST00000537002.1_Missense_Mutation_p.V391I|PTPRD_ENST00000397617.3_Missense_Mutation_p.V384I|PTPRD_ENST00000540109.1_Missense_Mutation_p.V394I|PTPRD_ENST00000360074.4_Missense_Mutation_p.V381I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	394	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V394I(4)		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)		TTGACAGCAACAACCCTGAAT	0.522000										TSP Lung(15;0.13)			10	234					0	0	0.361761	0	0
ACACB	32	broad.mit.edu	37	12	109644622	109644622	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:109644622G>T	ENST00000338432.7	+	20	3140	c.3021G>T	c.(3019-3021)atG>atT	p.M1007I	ACACB_ENST00000377848.3_Missense_Mutation_p.M1007I|ACACB_ENST00000377854.5_Missense_Mutation_p.M1007I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1007					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.M1007I(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)	CCAACGTCATGAGTGGCTTTT	0.552000													55	175					1.54043e-34	2.34995e-34	0.870114	1	0
CPXM1	56265	broad.mit.edu	37	20	2776024	2776024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr20:2776024C>A	ENST00000380605.2	-	12	1823	c.1759G>T	c.(1759-1761)Gag>Tag	p.E587*		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	587					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.E587*(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACAGTGACCTCAAAGCAGTTG	0.562000													25	91					3.6726e-16	4.69277e-16	0.667858	1	0
CPN1	1369	broad.mit.edu	37	10	101814119	101814119	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr10:101814119G>C	ENST00000370418.3	-	7	1347	c.1096C>G	c.(1096-1098)Cat>Gat	p.H366D		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	366					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.H366D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTGACATCATGGTTAATCCCA	0.453000													25	88					0	0	0.681144	0	0
DCC	1630	broad.mit.edu	37	18	50592527	50592527	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr18:50592527C>A	ENST00000442544.2	+	7	1868	c.1252C>A	c.(1252-1254)Cct>Act	p.P418T	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000412726.1_Missense_Mutation_p.P266T|DCC_ENST00000581580.1_Missense_Mutation_p.P73T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	418					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P418T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCTCATTGTCCCTAAGCCTGG	0.438000													30	70					1.55811e-20	2.16686e-20	0.729181	1	0
LHCGR	3973	broad.mit.edu	37	2	48950635	48950635	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:48950635C>T	ENST00000294954.7	-	6	517	c.496G>A	c.(496-498)Gga>Aga	p.G166R	LHCGR_ENST00000405626.1_Missense_Mutation_p.G166R|LHCGR_ENST00000403273.1_Missense_Mutation_p.G166R|LHCGR_ENST00000401907.1_Missense_Mutation_p.G166R|LHCGR_ENST00000344775.3_Missense_Mutation_p.G166R|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	166					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.G166R(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAAGCATTTCCTGGTATGGTG	0.363000													31	53					0	0	0.750413	0	0
ZNF711	7552	broad.mit.edu	37	X	84510681	84510681	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chrX:84510681A>T	ENST00000360700.4	+	4	1382	c.496A>T	c.(496-498)Aat>Tat	p.N166Y	ZNF711_ENST00000373165.3_Missense_Mutation_p.N166Y|ZNF711_ENST00000276123.3_Missense_Mutation_p.N166Y|ZNF711_ENST00000395402.1_Missense_Mutation_p.N144Y			Q9Y462	ZN711_HUMAN	zinc finger protein 711	166					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.N166Y(1)|p.N146Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TCTTGTAACTAATTCAGATAC	0.423000													53	21					0	0	0.870114	0	0
RP1	6101	broad.mit.edu	37	8	55542007	55542007	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr8:55542007G>T	ENST00000220676.1	+	4	5713	c.5565G>T	c.(5563-5565)aaG>aaT	p.K1855N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1855					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.K1855N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGAGGAGAAGGGTAGTCATC	0.418000													8	57					7.48243e-07	8.3169e-07	0.335167	1	0
GIMAP8	155038	broad.mit.edu	37	7	150171185	150171185	+	Silent	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr7:150171185C>T	ENST00000307271.3	+	4	1342	c.768C>T	c.(766-768)cgC>cgT	p.R256R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	256						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.R256R(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGGGGAAACGCGGTGCTGGAA	0.557000													42	137					0	0	0.834066	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361226	70361226	+	Silent	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr4:70361226T>A	ENST00000305107.6	-	1	400	c.354A>T	c.(352-354)acA>acT	p.T118T	UGT2B4_ENST00000512583.1_Silent_p.T118T|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	118					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.T118T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGTCATTAAATGTCCACATGA	0.333000													3	9					0	0	0.115264	0	0
TFRC	7037	broad.mit.edu	37	3	195798322	195798322	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr3:195798322T>G	ENST00000360110.4	-	6	801	c.632A>C	c.(631-633)tAc>tCc	p.Y211S	TFRC_ENST00000420415.1_Missense_Mutation_p.Y130S|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.Y211S	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	211					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	p.Y211S(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CTCCACCAGGTAAACAAGTCT	0.398000			T	BCL6	NHL								60	147					0	0	0.870114	0	0
DCTN5	84516	broad.mit.edu	37	16	23669925	23669925	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr16:23669925C>T	ENST00000300087.2	+	3	366	c.215C>T	c.(214-216)cCa>cTa	p.P72L	DCTN5_ENST00000568589.1_Missense_Mutation_p.P72L|DCTN5_ENST00000563998.1_Missense_Mutation_p.P72L	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	72						centrosome	transferase activity	p.P72L(1)		endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		ATAAGGCCACCATTCAAGAAG	0.433000													39	152					0	0	0.827153	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061009	15061009	+	Nonstop_Mutation	SNP	A	A	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:15061009A>T	ENST00000430939.2	-	9	1630	c.1501T>A	c.(1501-1503)Tga>Aga	p.*501R	SLC1A6_ENST00000221742.3_Nonstop_Mutation_p.*565R|SLC1A6_ENST00000600144.1_Nonstop_Mutation_p.*487R			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	0					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.*565R(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GAGGCCCCTCACATAGCACTC	0.647000													8	23					0	0	0.307466	0	0
VPS13A	23230	broad.mit.edu	37	9	79910762	79910762	+	Splice_Site	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr9:79910762G>T	ENST00000360280.3	+	33	4072	c.3812_splice	c.e33+1	p.R1271_splice	VPS13A_ENST00000357409.5_Splice_Site_p.R1271_splice|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Splice_Site_p.R1271_splice|VPS13A_ENST00000376636.3_Splice_Site_p.R1232_splice	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1271					Golgi to endosome transport|protein transport	intracellular	protein binding	p.R1271I(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGACTATACAGGTAAGCTTTT	0.333000													13	47					9.05144e-12	1.10015e-11	0.435327	1	0
OR2L2	26246	broad.mit.edu	37	1	248202145	248202145	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:248202145G>T	ENST00000366479.2	+	1	672	c.576G>T	c.(574-576)tgG>tgT	p.W192C	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W192C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAGACACTTGGGTCTATGAGA	0.463000													40	174					4.75955e-12	5.80859e-12	0.870114	1	0
ERCC6	2074	broad.mit.edu	37	10	50667200	50667200	+	Silent	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr10:50667200G>A	ENST00000355832.5	-	21	4221	c.4143C>T	c.(4141-4143)tcC>tcT	p.S1381S	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Silent_p.S751S	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1381					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	p.S1381S(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CGAGGGGCCCGGATGAAGAGT	0.473000								Direct reversal of damage;Nucleotide excision repair (NER)					77	220					0	0	0.870114	0	0
ACTR3	10096	broad.mit.edu	37	2	114709124	114709124	+	Silent	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:114709124T>A	ENST00000263238.2	+	9	1247	c.927T>A	c.(925-927)atT>atA	p.I309I	ACTR3_ENST00000535589.2_Silent_p.I258I|ACTR3_ENST00000536059.1_Silent_p.I247I	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	309					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	p.I309I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						ATTGTCCTATTGATGTCAGAC	0.303000													4	28					0	0	0.150653	0	0
AHDC1	27245	broad.mit.edu	37	1	27874554	27874554	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:27874554G>A	ENST00000374011.2	-	6	5041	c.4073C>T	c.(4072-4074)aCc>aTc	p.T1358I	AHDC1_ENST00000247087.5_Missense_Mutation_p.T1358I|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1358							DNA binding	p.T1358I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TTGGCCAAAGGTGCCATCGGA	0.637000													25	74					0	0	0.729181	0	0
ITIH4	3700	broad.mit.edu	37	3	52858333	52858333	+	Splice_Site	SNP	T	T	G	rs113532241		TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr3:52858333T>G	ENST00000266041.4	-	9	1142		c.e9-2		ITIH4_ENST00000406595.1_Splice_Site|ITIH4_ENST00000485816.1_Splice_Site|ITIH4_ENST00000346281.5_Splice_Site|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000434759.3_Splice_Site	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4						acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.?(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGTTGGTCCCTGAGGAACACG	0.617000													49	243					0	0	0.870114	0	0
ZNF430	80264	broad.mit.edu	37	19	21239980	21239980	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:21239980A>G	ENST00000261560.5	+	5	1047	c.866A>G	c.(865-867)tAc>tGc	p.Y289C		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y289C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GAGAAACCCTACAGATGTGAA	0.398000													29	93					0	0	0.717897	0	0
CACNA1S	779	broad.mit.edu	37	1	201028377	201028377	+	Silent	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:201028377C>A	ENST00000362061.3	-	27	3691	c.3465G>T	c.(3463-3465)gtG>gtT	p.V1155V	CACNA1S_ENST00000367338.3_Silent_p.V1155V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1155					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.V1155V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TAGTGAAGGCCACATTGAGGA	0.597000													62	68					5.01655e-19	6.7871e-19	0.870114	1	0
OR2A14	135941	broad.mit.edu	37	7	143826247	143826247	+	Silent	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr7:143826247G>A	ENST00000408899.2	+	1	97	c.42G>A	c.(40-42)ccG>ccA	p.P14P		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P14P(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TCACCTTGCCGCGATTCCAGG	0.517000													32	83					0	0	0.760397	0	0
KYNU	8942	broad.mit.edu	37	2	143676236	143676236	+	Silent	SNP	T	T	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:143676236T>G	ENST00000264170.4	+	3	486	c.228T>G	c.(226-228)ctT>ctG	p.L76L	KYNU_ENST00000375773.2_Silent_p.L76L|KYNU_ENST00000409512.1_Silent_p.L76L|KYNU_ENST00000410015.2_Silent_p.L76L	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	76					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.L76L(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)	GAAATTCTCTTGGCCTTCAAC	0.279000													6	14					0	0	0.248553	0	0
REXO1	57455	broad.mit.edu	37	19	1816518	1816518	+	Missense_Mutation	SNP	C	C	T	rs142299409		TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:1816518C>T	ENST00000170168.4	-	14	3462	c.3368G>A	c.(3367-3369)cGt>cAt	p.R1123H		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1123	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding	p.R1123H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGACGTCACGCAGCGTGAC	0.657000													10	50					0	0	0.387290	0	0
C6	729	broad.mit.edu	37	5	41160437	41160437	+	Silent	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:41160437G>T	ENST00000263413.3	-	11	1755	c.1491C>A	c.(1489-1491)atC>atA	p.I497I	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.I497I	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	497	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.I497I(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)				CTGCACAGGGGATGTTTCTTA	0.507000													61	142					4.29146e-36	6.61415e-36	0.870114	1	0
TTLL4	9654	broad.mit.edu	37	2	219603497	219603497	+	Silent	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:219603497C>T	ENST00000392102.1	+	3	1438	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	TTLL4_ENST00000457313.1_Silent_p.P201P|TTLL4_ENST00000442769.1_Silent_p.P366P|TTLL4_ENST00000258398.4_Silent_p.P366P	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	366					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	p.P366P(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCCTGAACCCCAGCTTCCAGT	0.557000													41	137					0	0	0.840704	0	0
TTC39C	125488	broad.mit.edu	37	18	21660779	21660779	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr18:21660779T>A	ENST00000317571.3	+	5	927	c.691T>A	c.(691-693)Tcc>Acc	p.S231T	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Missense_Mutation_p.S170T	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	231							binding	p.S231T(1)|p.S170T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CCTTTGCATATCCATGGTGCC	0.468000													25	80					0	0	0.693898	0	0
DST	667	broad.mit.edu	37	6	56358869	56358869	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr6:56358869T>A	ENST00000370754.5	-	83	20239	c.20240A>T	c.(20239-20241)cAa>cTa	p.Q6747L	DST_ENST00000361203.3_Missense_Mutation_p.Q6458L|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.Q4481L|DST_ENST00000370788.2_Missense_Mutation_p.Q4372L|DST_ENST00000244364.6_Missense_Mutation_p.Q4155L|DST_ENST00000370769.4_Missense_Mutation_p.Q6569L|DST_ENST00000446842.2_Missense_Mutation_p.Q6243L|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	6567					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.Q4155L(1)|p.Q6569L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTTATGTCTTGGTCAATATT	0.363000													18	50					0	0	0.608945	0	0
DPF2	5977	broad.mit.edu	37	11	65107996	65107996	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr11:65107996A>T	ENST00000528416.1	+	2	306	c.173A>T	c.(172-174)gAa>gTa	p.E58V	DPF2_ENST00000415073.2_Missense_Mutation_p.E58V|DPF2_ENST00000532264.1_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.E58V	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	58					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	p.E58V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ATCTGGATGGAAAAGCGACAC	0.547000													82	121					0	0	0.870114	0	0
PHGDH	26227	broad.mit.edu	37	1	120263891	120263891	+	Silent	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:120263891T>A	ENST00000369407.3	+	1	1642	c.135T>A	c.(133-135)ggT>ggA	p.G45G	PHGDH_ENST00000369409.4_Silent_p.G79G			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	79					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	p.G79G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CTGGCACAGGTGTGGACAATG	0.577000													26	203					0	0	0.693898	0	0
TENC1	23371	broad.mit.edu	37	12	53452954	53452954	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:53452954G>T	ENST00000314250.6	+	18	1819	c.1529G>T	c.(1528-1530)aGc>aTc	p.S510I	TENC1_ENST00000549700.1_Missense_Mutation_p.S510I|TENC1_ENST00000451358.1_Missense_Mutation_p.S510I|TENC1_ENST00000552570.1_Missense_Mutation_p.S510I|TENC1_ENST00000546602.1_Missense_Mutation_p.S510I|TENC1_ENST00000379902.3_Missense_Mutation_p.S386I|TENC1_ENST00000314276.3_Missense_Mutation_p.S520I	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	510	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	p.S510I(1)|p.S520I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTCTCTGTCAGCAGCGACTCA	0.697000													15	51					8.28177e-16	1.04483e-15	0.557998	1	0
ERN2	10595	broad.mit.edu	37	16	23718140	23718140	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr16:23718140C>T	ENST00000256797.4	-	6	734	c.566G>A	c.(565-567)gGg>gAg	p.G189E	ERN2_ENST00000457008.2_Missense_Mutation_p.G141E	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	141					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	p.G189E(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGGGTCTCCCCTGACTCAGG	0.612000													30	123					0	0	0.729181	0	0
FXYD1	5348	broad.mit.edu	37	19	35631042	35631042	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:35631042C>T	ENST00000588081.1	+	1	117	c.59C>T	c.(58-60)gCa>gTa	p.A20V	FXYD1_ENST00000351325.4_Missense_Mutation_p.A20V|FXYD1_ENST00000455515.2_Missense_Mutation_p.A20V|FXYD1_ENST00000589209.1_Missense_Mutation_p.A20V|FXYD1_ENST00000588607.1_Missense_Mutation_p.A20V|LGI4_ENST00000493050.1_Intron|FXYD1_ENST00000588715.1_Missense_Mutation_p.A20V|CTD-2527I21.4_ENST00000592174.1_RNA			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	20					muscle contraction	chloride channel complex|integral to plasma membrane	chloride channel activity	p.A20V(1)		lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ATGGCCAAGGCAGGTGAGTGC	0.617000													6	121					0	0	0.248553	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21391919	21391919	+	Silent	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:21391919C>A	ENST00000256958.2	+	15	1968	c.1872C>A	c.(1870-1872)gtC>gtA	p.V624V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	624					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.V624V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACAGAAGGGTCTACTTGGGCT	0.269000													7	35					0.00307968	0.00323096	0.278610	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32890968	32890968	+	RNA	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr16:32890968C>T	ENST00000330048.5	-	0	2998					NR_003083.2																						CACGCACTCCCAAAAGGCCTG	0.637000													22	57					0	0	0.608945	0	0
TRPC3	7222	broad.mit.edu	37	4	122846200	122846200	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr4:122846200T>A	ENST00000264811.5	-	2	1348	c.930A>T	c.(928-930)aaA>aaT	p.K310N	TRPC3_ENST00000513531.1_Missense_Mutation_p.K310N|TRPC3_ENST00000379645.3_Missense_Mutation_p.K383N	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	298					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.K310N(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TAATGGCAAGTTTGACACGAC	0.428000													52	121					0	0	0.870114	0	0
TLL2	7093	broad.mit.edu	37	10	98188477	98188477	+	Silent	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr10:98188477G>T	ENST00000357947.3	-	5	774	c.549C>A	c.(547-549)gcC>gcA	p.A183A	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	183	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A183A(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGTGTCTCATGGCCTGCTTAA	0.433000													30	64					1.7367e-05	1.88826e-05	0.706142	1	0
RP1	6101	broad.mit.edu	37	8	55541741	55541741	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr8:55541741G>T	ENST00000220676.1	+	4	5447	c.5299G>T	c.(5299-5301)Gca>Tca	p.A1767S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1767					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.A1767S(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTGTGGCAATGCAGACACCAC	0.433000													23	65					2.50493e-22	3.51631e-22	0.681144	1	0
SDSL	113675	broad.mit.edu	37	12	113873352	113873352	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:113873352A>G	ENST00000403593.4	+	6	924	c.662A>G	c.(661-663)gAc>gGc	p.D221G	SDSL_ENST00000345635.4_Missense_Mutation_p.D221G			Q96GA7	SDSL_HUMAN	serine dehydratase-like	221					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	p.D221G(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	ACACTTCCAGACATCACCAGG	0.627000													37	132					0	0	0.812448	0	0
OR10K2	391107	broad.mit.edu	37	1	158390272	158390272	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:158390272G>T	ENST00000314902.2	-	1	384	c.385C>A	c.(385-387)Cca>Aca	p.P129T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P129T(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TAGCGCAGTGGGTTACAGATG	0.517000													26	246					1.64293e-13	2.04682e-13	0.654019	1	0
GLIPR1	11010	broad.mit.edu	37	12	75884265	75884265	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:75884265A>G	ENST00000266659.3	+	3	701	c.500A>G	c.(499-501)aAt>aGt	p.N167S		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	167					cellular lipid metabolic process	extracellular region|integral to membrane		p.N167S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GCTCTTTCCAATGGAGCACAT	0.443000													20	47					0	0	0.639603	0	0
USP28	57646	broad.mit.edu	37	11	113700072	113700072	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr11:113700072G>T	ENST00000544967.1	-	1	117	c.30C>A	c.(28-30)tgC>tgA	p.C10*	USP28_ENST00000260188.5_Intron|USP28_ENST00000003302.4_Intron|USP28_ENST00000545540.1_Intron|USP28_ENST00000537706.1_Intron			Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	0					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GTTTTCCTAGGCAAAGAGAGA	0.418000													13	42					6.72482e-11	8.10775e-11	0.479597	1	0
SPTA1	6708	broad.mit.edu	37	1	158624529	158624529	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:158624529C>G	ENST00000368148.3	-	21	3088	c.2908G>C	c.(2908-2910)Gct>Cct	p.A970P	SPTA1_ENST00000368147.3_Missense_Mutation_p.A970P	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	970			A -> D (in dbSNP:rs35948326).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A970P(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTGGTGCAGCCTGTTGTTGC	0.512000													13	94					0	0	0.520397	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058170	152058170	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:152058170T>C	ENST00000368806.1	-	3	2052	c.1988A>G	c.(1987-1989)gAa>gGa	p.E663G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	663							calcium ion binding	p.E663G(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTTCTATTTTCATCTCCTGC	0.522000													38	477					0	0	0.804634	0	0
GPR156	165829	broad.mit.edu	37	3	119886829	119886829	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr3:119886829G>T	ENST00000464295.1	-	10	1940	c.1495C>A	c.(1495-1497)Cca>Aca	p.P499T	GPR156_ENST00000461057.1_Missense_Mutation_p.P495T|GPR156_ENST00000315843.3_Missense_Mutation_p.P499T			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	499						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.P499T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCTCTTTCTGGACCCAGGCTT	0.522000													101	260					2.14978e-47	3.47451e-47	0.870114	1	0
TSHZ1	10194	broad.mit.edu	37	18	72999184	72999184	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr18:72999184G>T	ENST00000322038.5	+	2	2271	c.1687G>T	c.(1687-1689)Ggc>Tgc	p.G563C	TSHZ1_ENST00000580243.1_Missense_Mutation_p.G608C	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	608						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G563C(1)|p.G563S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTATGCTGGCGGCGTGAAGTC	0.677000													18	53					6.44725e-10	7.61948e-10	0.624587	1	0
WRN	7486	broad.mit.edu	37	8	30999265	30999265	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr8:30999265G>T	ENST00000298139.5	+	26	3456	c.3207G>T	c.(3205-3207)ttG>ttT	p.L1069F		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1069					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.L1069F(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ATGAAGAATTGTGTCCAAAGA	0.328000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				12	45					1.5842e-08	1.82183e-08	0.435327	1	0
DNAH7	56171	broad.mit.edu	37	2	196671525	196671525	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:196671525C>A	ENST00000312428.6	-	54	10215	c.10115G>T	c.(10114-10116)tGg>tTg	p.W3372L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3372					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.W3372L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTATCTTCCCATTCTTCAGG	0.343000													25	49					6.36457e-07	7.10078e-07	0.667858	1	0
DOCK7	85440	broad.mit.edu	37	1	63048887	63048887	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:63048887C>A	ENST00000251157.5	-	16	1872	c.1839G>T	c.(1837-1839)aaG>aaT	p.K613N	DOCK7_ENST00000340370.5_Missense_Mutation_p.K613N	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	613	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.K613N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TATAGGCTTCCTTTGAAAATT	0.333000													3	21					0.004672	0.00483366	0.115264	1	0
ATM	472	broad.mit.edu	37	11	108199895	108199895	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr11:108199895A>C	ENST00000278616.4	+	49	7622	c.7237A>C	c.(7237-7239)Aag>Cag	p.K2413Q	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.K2413Q	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2413	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.K2413Q(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATTTGAAAACAAGCAAGCTCT	0.358000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			7	49					0	0	0.248553	0	0
PTPRT	11122	broad.mit.edu	37	20	41101011	41101011	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr20:41101011G>T	ENST00000373198.3	-	8	1580	c.1345C>A	c.(1345-1347)Ctg>Atg	p.L449M	PTPRT_ENST00000373193.3_Missense_Mutation_p.L449M|PTPRT_ENST00000373201.1_Missense_Mutation_p.L449M|PTPRT_ENST00000373184.1_Missense_Mutation_p.L449M|PTPRT_ENST00000356100.2_Missense_Mutation_p.L449M|PTPRT_ENST00000373190.1_Missense_Mutation_p.L449M|PTPRT_ENST00000373187.1_Missense_Mutation_p.L449M	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	449	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.L449M(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGCCTCGCAGGGTGTAGTGG	0.612000													20	65					4.35082e-09	5.10155e-09	0.592651	1	0
F13A1	2162	broad.mit.edu	37	6	6224937	6224937	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr6:6224937C>A	ENST00000264870.3	-	7	1220	c.955G>T	c.(955-957)Gct>Tct	p.A319S		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	319					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.A319S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AAGACACCAGCAAAAACCCAG	0.418000													39	166					6.33695e-27	9.37994e-27	0.834066	1	0
SPAM1	6677	broad.mit.edu	37	7	123599549	123599549	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr7:123599549G>T	ENST00000340011.5	+	5	1413	c.1056G>T	c.(1054-1056)ttG>ttT	p.L352F	SPAM1_ENST00000402183.2_Missense_Mutation_p.L352F|SPAM1_ENST00000439500.1_Missense_Mutation_p.L352F|SPAM1_ENST00000460182.1_Missense_Mutation_p.L352F|SPAM1_ENST00000223028.7_Missense_Mutation_p.L352F	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	352					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.L352F(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AATCTTGCTTGCTCCTAGACA	0.348000													11	32					5.50884e-06	6.03349e-06	0.411799	1	0
PYCR2	29920	broad.mit.edu	37	1	226108231	226108231	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:226108231G>A	ENST00000343818.6	-	7	1035	c.887C>T	c.(886-888)aCa>aTa	p.T296I	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Intron	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	296					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	p.T296I(1)		kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	TGTGGAGACTGTGGGGGATTC	0.562000													30	343					0	0	0.740014	0	0
NEB	4703	broad.mit.edu	37	2	152426724	152426724	+	Silent	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:152426724G>T	ENST00000397345.3	-	109	17503	c.17301C>A	c.(17299-17301)atC>atA	p.I5767I	NEB_ENST00000172853.10_Silent_p.I4066I|NEB_ENST00000427231.2_Silent_p.I5767I|NEB_ENST00000409198.1_Silent_p.I4066I|NEB_ENST00000603639.1_Silent_p.I5767I|NEB_ENST00000604864.1_Silent_p.I5767I	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5780					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.I4066I(1)|p.I5767I(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGAGTGCAGGATGGAAAGCA	0.542000													9	37					0.000442599	0.000469281	0.335167	1	0
PRDM9	56979	broad.mit.edu	37	5	23527673	23527673	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:23527673C>A	ENST00000296682.3	+	11	2658	c.2476C>A	c.(2476-2478)Cac>Aac	p.H826N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	826					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.H826N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAGAGGACACACACAGGGGA	0.582000										HNSCC(3;0.000094)			100	238					1.22908e-42	1.95476e-42	0.870114	1	0
CHRNB1	1140	broad.mit.edu	37	17	7357633	7357633	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr17:7357633T>C	ENST00000306071.2	+	8	905	c.838T>C	c.(838-840)Tca>Cca	p.S280P	CHRNB1_ENST00000536404.2_Missense_Mutation_p.S208P|CHRNB1_ENST00000576360.1_Intron	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	280					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	p.S280P(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GATGGGGCTCTCAATCTTTGC	0.488000													81	90					0	0	0.870114	0	0
NALCN	259232	broad.mit.edu	37	13	101735224	101735224	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr13:101735224T>A	ENST00000251127.6	-	33	3782	c.3701A>T	c.(3700-3702)gAg>gTg	p.E1234V		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1234						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.E1234V(1)		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)					CACCGGGTCCTCGACGTCCCA	0.527000													35	46					0	0	0.796494	0	0
CPEB1	64506	broad.mit.edu	37	15	83215263	83215263	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr15:83215263A>T	ENST00000562833.1	-	7	706	c.707T>A	c.(706-708)tTg>tAg	p.L236*	CPEB1_ENST00000398592.2_Silent_p.I275I|CPEB1_ENST00000423133.2_Silent_p.I426I|CPEB1_ENST00000261723.6_Silent_p.I504I|CPEB1_ENST00000568128.1_Silent_p.I501I|CPEB1_ENST00000398591.2_Silent_p.I431I|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000564522.1_Silent_p.I426I|CPEB1_ENST00000563800.1_Silent_p.I528I|CPEB1_ENST00000562019.1_Silent_p.I506I|CPEB1_ENST00000450751.2_Silent_p.I426I|CPEB1_ENST00000568757.1_Silent_p.I426I														p.I431I(1)|p.I501I(1)									GGTAGGGGTCAATCTGAACCT	0.483000													56	74					0	0	0.870114	0	0
MKI67	4288	broad.mit.edu	37	10	129902901	129902901	+	Silent	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr10:129902901G>A	ENST00000368654.3	-	13	7578	c.7203C>T	c.(7201-7203)aaC>aaT	p.N2401N	MKI67_ENST00000368653.3_Silent_p.N2041N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2401	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.N2401N(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCACAAATGTGTTGATATTTT	0.458000													15	377					0	0	0.457914	0	0
KCNS2	3788	broad.mit.edu	37	8	99440446	99440446	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr8:99440446A>G	ENST00000287042.4	+	2	589	c.239A>G	c.(238-240)tAc>tGc	p.Y80C	KCNS2_ENST00000521839.1_Missense_Mutation_p.Y80C	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	80						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.Y80C(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTCTTCCCCTACGTGCTGCAT	0.572000													116	133					0	0	0.870114	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215144	140215144	+	Silent	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:140215144C>T	ENST00000525929.1	+	1	1176	c.1176C>T	c.(1174-1176)cgC>cgT	p.R392R	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.R392R|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCCCCGCGTTCCCTTCA	0.537000													6	328					0	0	0.248553	0	0
CRX	1406	broad.mit.edu	37	19	48342701	48342701	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:48342701G>T	ENST00000221996.7	+	4	583	c.377G>T	c.(376-378)aGa>aTa	p.R126I	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.R126I	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	126					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R126I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		ACGTCCCCAAGACCCTCCACA	0.662000													59	74					1.40369e-38	2.17462e-38	0.870114	1	0
LAMA4	3910	broad.mit.edu	37	6	112452206	112452206	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr6:112452206A>T	ENST00000230538.7	-	29	4329	c.3932T>A	c.(3931-3933)cTg>cAg	p.L1311Q	LAMA4_ENST00000522006.1_Missense_Mutation_p.L1304Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.L1304Q|LAMA4_ENST00000424408.2_Missense_Mutation_p.L1304Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1311	Laminin G-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.L1304Q(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAAGTGGGACAGCCCATCATT	0.423000													11	39					0	0	0.387290	0	0
GRM6	2916	broad.mit.edu	37	5	178410147	178410147	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:178410147C>G	ENST00000231188.5	-	9	2378	c.2200G>C	c.(2200-2202)Gac>Cac	p.D734H	GRM6_ENST00000517717.1_Missense_Mutation_p.D734H|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	734					detection of visible light|visual perception	integral to plasma membrane		p.D734H(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGCTCGGGGTCCACCGTCCGC	0.622000													16	71					0	0	0.557998	0	0
CLLU1	574028	broad.mit.edu	37	12	92818631	92818631	+	Silent	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:92818631C>A	ENST00000378485.1	+	1	897	c.175C>A	c.(175-177)Cga>Aga	p.R59R	CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000538965.1_Intron|CLLU1OS_ENST00000378487.2_Intron|RP11-693J15.4_ENST00000508671.1_RNA	NM_001025233.1	NP_001020404.1			chronic lymphocytic leukemia up-regulated 1									p.R59R(1)		NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						CAACAGAATACGATTTAGCAA	0.284000													11	32					1.08611e-07	1.22085e-07	0.387290	1	0
PIRT	644139	broad.mit.edu	37	17	10728733	10728733	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr17:10728733T>C	ENST00000580256.1	-	2	868	c.230A>G	c.(229-231)tAc>tGc	p.Y77C		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	77						integral to membrane		p.Y77C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						CTTCAAGGTGTAGGCCAAGCA	0.567000													26	48					0	0	0.706142	0	0
PLG	5340	broad.mit.edu	37	6	161152090	161152090	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr6:161152090A>T	ENST00000308192.9	+	11	1327	c.1264A>T	c.(1264-1266)Aca>Tca	p.T422S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	422	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.T422S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CAGTGGCCTGACAATGAACTA	0.478000													51	118					0	0	0.870114	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142120041	142120041	+	RNA	SNP	A	A	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr7:142120041A>T	ENST00000390377.1	-	0	125																											AAATTGGATCACACCTGAGAG	0.488000													3	86					0	0	0.150653	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995561	57995561	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr11:57995561C>A	ENST00000316770.2	-	1	829	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V263L(1)|p.V263M(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CGCAGGTACACGAGGCTGCAG	0.607000													5	51					0.00621372	0.00638454	0.335167	1	0
DUS3L	56931	broad.mit.edu	37	19	5789413	5789413	+	Silent	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:5789413G>A	ENST00000309061.7	-	3	801	c.705C>T	c.(703-705)ttC>ttT	p.F235F	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	235					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	p.F235F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GGCCCTGGCTGAACCGGCGCA	0.726000													3	9					0	0	0.184627	0	0
CES1	1066	broad.mit.edu	37	16	55853504	55853504	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr16:55853504C>A	ENST00000422046.2	-	7	1127	c.846G>T	c.(844-846)atG>atT	p.M282I	CES1_ENST00000360526.3_Missense_Mutation_p.M283I|CES1_ENST00000361503.4_Missense_Mutation_p.M282I			P23141	EST1_HUMAN	carboxylesterase 1	282					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.M283I(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GGCAGTGAACCATGACAGCAG	0.512000													46	279					5.22555e-25	7.54802e-25	0.870114	1	0
PSG8	440533	broad.mit.edu	37	19	43258471	43258471	+	Silent	SNP	T	T	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:43258471T>G	ENST00000306511.4	-	5	1354	c.1257A>C	c.(1255-1257)ccA>ccC	p.P419P	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Intron|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	419						extracellular region		p.P419P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCAAGGATACTGGGATCCGCT	0.493000													92	260					0	0	0.870114	0	0
CASC5	57082	broad.mit.edu	37	15	40915482	40915482	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr15:40915482G>T	ENST00000346991.5	+	11	3488	c.3098G>T	c.(3097-3099)cGt>cTt	p.R1033L	CASC5_ENST00000399668.2_Missense_Mutation_p.R1007L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1033	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.R1033L(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAAAGTGACCGTCTAGTAGCA	0.443000													25	49					1.55469e-16	2.01235e-16	0.654019	1	0
SZT2	23334	broad.mit.edu	37	1	43888542	43888542	+	Silent	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:43888542G>T	ENST00000562955.1	+	14	2025	c.2025G>T	c.(2023-2025)ccG>ccT	p.P675P		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	675						peroxisome		p.P675P(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CACCAGCACCGGCCCGGCACA	0.592000													4	7					1.23904e-05	1.35209e-05	0.184627	1	0
PRR23B	389151	broad.mit.edu	37	3	138738935	138738935	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr3:138738935C>T	ENST00000329447.5	-	1	833	c.569G>A	c.(568-570)cGg>cAg	p.R190Q	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	190	Pro-rich.							p.R190Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGGCCCTCCCGGTAGGGGAT	0.637000													27	89					0	0	0.717897	0	0
CCBE1	147372	broad.mit.edu	37	18	57363928	57363928	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr18:57363928C>T	ENST00000439986.4	-	2	182	c.145G>A	c.(145-147)Gag>Aag	p.E49K	RP11-2N1.2_ENST00000588946.1_RNA	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	49					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	p.E49K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				ATTTTGCTCTCTGAGCAGATT	0.587000											OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	96					0	0	0.870114	0	0
GDF15	9518	broad.mit.edu	37	19	18499574	18499574	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:18499574C>A	ENST00000595973.1	+	3	1307	c.756C>A	c.(754-756)aaC>aaA	p.N252K	GDF15_ENST00000252809.3_Missense_Mutation_p.N252K			Q99988	GDF15_HUMAN	growth differentiation factor 15	252					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.N252K(1)		kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						GGGCGGCAAACATGCACGCGC	0.667000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	11					0.00448238	0.0046698	0.307466	1	0
ANK2	287	broad.mit.edu	37	4	114275531	114275531	+	Silent	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr4:114275531C>A	ENST00000357077.4	+	38	5810	c.5757C>A	c.(5755-5757)tcC>tcA	p.S1919S	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.S1886S|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1886	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S1919S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TATCGCCCTCCGGGAGGACAG	0.507000													36	66					1.836e-18	2.46172e-18	0.788014	1	0
BRINP3	339479	broad.mit.edu	37	1	190203536	190203536	+	Silent	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:190203536C>A	ENST00000367462.3	-	5	921	c.690G>T	c.(688-690)ctG>ctT	p.L230L	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.L128L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		230						extracellular region		p.L230L(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GACTCTGAACCAGAACAGAAC	0.383000													29	38					2.68265e-12	3.28735e-12	0.769981	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32890601	32890601	+	RNA	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr16:32890601C>A	ENST00000330048.5	-	0	3197					NR_003083.2																						CCTCACCCCACCACGGGTACA	0.592000													7	11					3.07112e-06	3.37597e-06	0.387290	1	0
C17orf64	124773	broad.mit.edu	37	17	58506804	58506804	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr17:58506804T>C	ENST00000269127.4	+	5	595	c.511T>C	c.(511-513)Tgg>Cgg	p.W171R		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	171								p.W61R(1)|p.W171R(1)		breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			CTGCCATGCATGGGGGCTGCA	0.647000													47	67					0	0	0.870114	0	0
NKX3-2	579	broad.mit.edu	37	4	13544075	13544075	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr4:13544075C>G	ENST00000382438.5	-	2	1179	c.544G>C	c.(544-546)Ggc>Cgc	p.G182R		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	182	Poly-Gly.				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G182R(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						cccccgccgccggccccgctg	0.756000													4	6					0	0	0.150653	0	0
SSPO	23145	broad.mit.edu	37	7	149519646	149519646	+	RNA	SNP	G	G	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr7:149519646G>C	ENST00000378016.2	+	0	13136							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)			CGCTGCTCTTGCCGGGTGCTG	0.716000													5	16					0	0	0.217242	0	0
OR2B3	442184	broad.mit.edu	37	6	29054376	29054376	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr6:29054376G>T	ENST00000377173.2	-	1	714	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3									p.S217F(1)|p.S217Y(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GAAGCCATAGGAGATGAGGAT	0.438000													42	116					1.51926e-22	2.14272e-22	0.870114	1	0
ZNF585B	92285	broad.mit.edu	37	19	37677752	37677752	+	Silent	SNP	G	G	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:37677752G>C	ENST00000532828.2	-	5	938	c.687C>G	c.(685-687)ctC>ctG	p.L229L	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Silent_p.L174L	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATGTATACTGAGATCTGAGT	0.388000													3	150					0	0	0.115264	0	0
NR0B2	8431	broad.mit.edu	37	1	27240194	27240194	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:27240194G>A	ENST00000254227.3	-	1	263	c.238C>T	c.(238-240)Cct>Tct	p.P80S		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	80	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity	p.P80S(1)		NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTGGGGAGGCAGCTGCCAG	0.647000													8	9					0	0	0.387290	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989716	15989716	+	Silent	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:15989716C>T	ENST00000221700.5	-	13	1523	c.1428G>A	c.(1426-1428)gcG>gcA	p.A476A	CYP4F2_ENST00000592328.1_Silent_p.A476A	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	476					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.A476A(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCTTCATCTCCGCCATCGCGA	0.672000													25	63					0	0	0.740014	0	0
ZNF860	344787	broad.mit.edu	37	3	32031881	32031881	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr3:32031881G>A	ENST00000360311.4	+	2	1859	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R437H(2)		endometrium(3)|lung(4)|ovary(1)	8						TTTTTTAGACGTCGTTCATAT	0.383000													25	49					0	0	0.639603	0	0
LPHN3	23284	broad.mit.edu	37	4	62598758	62598758	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr4:62598758C>G	ENST00000512091.1	+	7	1428	c.681C>G	c.(679-681)aaC>aaG	p.N227K	LPHN3_ENST00000514996.1_Missense_Mutation_p.N227K|LPHN3_ENST00000511324.1_Missense_Mutation_p.N295K|LPHN3_ENST00000514591.1_Missense_Mutation_p.N227K|LPHN3_ENST00000514157.1_Missense_Mutation_p.N227K|LPHN3_ENST00000508946.1_Missense_Mutation_p.N227K|LPHN3_ENST00000506700.1_Missense_Mutation_p.N227K|LPHN3_ENST00000545650.1_Missense_Mutation_p.N227K|LPHN3_ENST00000508693.1_Missense_Mutation_p.N295K|LPHN3_ENST00000506746.1_Missense_Mutation_p.N295K|LPHN3_ENST00000506720.1_Missense_Mutation_p.N295K|LPHN3_ENST00000507164.1_Missense_Mutation_p.N295K|LPHN3_ENST00000509896.1_Missense_Mutation_p.N295K|LPHN3_ENST00000507625.1_Missense_Mutation_p.N295K|LPHN3_ENST00000504896.1_Missense_Mutation_p.N227K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	227	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.N227K(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCACCAGGAACATAGTAAAGT	0.458000													13	32					0	0	0.457914	0	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119384	32119384	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr21:32119384C>A	ENST00000333892.2	-	1	167	c.137G>T	c.(136-138)gGc>gTc	p.G46V		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	46						intermediate filament		p.G46V(1)		lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						atagccacagccagttccata	0.537000													17	43					4.59853e-10	5.45619e-10	0.693898	1	0
PREX2	80243	broad.mit.edu	37	8	68956798	68956798	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr8:68956798G>A	ENST00000288368.4	+	8	1193	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	306	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.E306K(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGAGGTGATGGAAGTGGAGAA	0.413000													18	74					0	0	0.557998	0	0
ZNF676	163223	broad.mit.edu	37	19	22363335	22363335	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr19:22363335C>T	ENST00000397121.2	-	3	1501	c.1184G>A	c.(1183-1185)tGt>tAt	p.C395Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTCTTCACATTTGTAGGG	0.413000													4	122					0	0	0.184627	0	0
C1orf177	163747	broad.mit.edu	37	1	55279583	55279583	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:55279583C>G	ENST00000358193.3	+	7	913	c.859C>G	c.(859-861)Cga>Gga	p.R287G	C1orf177_ENST00000371273.3_Missense_Mutation_p.R287G	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	287								p.R287G(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TAAACTTCCCCGAAACCCGAA	0.478000													31	111					0	0	0.788014	0	0
TRIM71	131405	broad.mit.edu	37	3	32933097	32933097	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr3:32933097G>T	ENST00000383763.4	+	4	2464	c.2401G>T	c.(2401-2403)Gct>Tct	p.A801S		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	801					multicellular organismal development	cytoplasm	zinc ion binding	p.A801S(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAAGGGGTAGCTGTGGACCA	0.592000													23	109					9.57634e-11	1.14993e-10	0.654019	1	0
BBS7	55212	broad.mit.edu	37	4	122789195	122789195	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr4:122789195C>A	ENST00000264499.4	-	2	226	c.43G>T	c.(43-45)Gta>Tta	p.V15L	BBS7_ENST00000506636.1_Missense_Mutation_p.V15L	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	15					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	p.V15L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGAGATGTTACTCCCACCTAA	0.343000									Bardet-Biedl syndrome				39	61					2.24893e-16	2.88597e-16	0.847076	1	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473191	22473191	+	RNA	SNP	C	C	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr15:22473191C>G	ENST00000557788.2	-	0	79																											CAGTCCTGGGCCCGACTCCTG	0.622000													10	100					0	0	0.387290	0	0
CSMD1	64478	broad.mit.edu	37	8	2820770	2820770	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr8:2820770C>A	ENST00000520002.1	-	61	9986	c.9431G>T	c.(9430-9432)tGg>tTg	p.W3144L	CSMD1_ENST00000542608.1_Missense_Mutation_p.W2966L|CSMD1_ENST00000537824.1_Missense_Mutation_p.W3143L|CSMD1_ENST00000602723.1_Missense_Mutation_p.W2967L|CSMD1_ENST00000400186.3_Missense_Mutation_p.W2967L|CSMD1_ENST00000602557.1_Missense_Mutation_p.W3144L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3144	Sushi 25.					integral to membrane		p.W2872L(1)|p.W3143L(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCTCCTTTCCACACCCCGCG	0.557000													17	117					2.4375e-19	3.34317e-19	0.717897	1	0
PRPF40A	55660	broad.mit.edu	37	2	153519649	153519649	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:153519649T>A	ENST00000410080.1	-	20	2667	c.2126A>T	c.(2125-2127)gAa>gTa	p.E709V		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	736					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	p.E709V(1)|p.E736V(1)|p.E605V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						CTCTTCTTTTTCTCTTTCACG	0.338000													5	16					0	0	0.307466	0	0
GBP4	115361	broad.mit.edu	37	1	89662952	89662953	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:89662952_89662953insG	ENST00000355754.6	-	2	172_173	c.75_76insC	c.(73-78)cctttgfs	p.L26fs		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	26						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ACTAGACAAATGGGGGCCATCA	0.436													29	135	---	---	---	---					
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)tcfs	p.L289fs	ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557													8	296	---	---	---	---					
IARS2	55699	broad.mit.edu	37	1	220267786	220267786	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr1:220267786delG	ENST00000366922.1	+	1	343	c.12delG	c.(10-12)ctfs	p.L4fs	IARS2_ENST00000302637.5_Frame_Shift_Del_p.L76fs			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	76					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGAAGCTGCTGGGCCGCCAGC	0.711													15	33	---	---	---	---					
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393													8	617	---	---	---	---					
ITPR1	3708	broad.mit.edu	37	3	4735185	4735185	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr3:4735185delG	ENST00000354582.6	+	33	4391	c.4041delG	c.(4039-4041)tcfs	p.S1347fs	ITPR1_ENST00000423119.2_Frame_Shift_Del_p.S1338fs|ITPR1_ENST00000357086.4_Frame_Shift_Del_p.S1338fs|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Frame_Shift_Del_p.S1332fs|ITPR1_ENST00000456211.2_Frame_Shift_Del_p.S1323fs|ITPR1_ENST00000443694.2_Frame_Shift_Del_p.S1332fs			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1347					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGGTCAATTCGGGAGAGGATG	0.493													77	380	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)tfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(1)		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)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													7	219	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815896	+	RNA	DEL	AA	AA	-	rs145239076		TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr4:19815895_19815896delAA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaaa	0.411													2	4	---	---	---	---					
CTD-2503O16.4	0	broad.mit.edu	37	5	74252052	74252053	+	RNA	DEL	AC	AC	-	rs146824735		TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:74252052_74252053delAC	ENST00000505200.1	-	0	335																											ttccataccaacacacacacac	0.455													2	4	---	---	---	---					
KCTD16	57528	broad.mit.edu	37	5	143853530	143853531	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr5:143853530_143853531insA	ENST00000507359.2	+	3	2231_2232	c.1140_1141insA	c.(1138-1143)agaaaafs	p.RK380fs	KCTD16_ENST00000512467.1_Frame_Shift_Ins_p.RK380fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	380						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			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)			ACATGAGCAGCAAAAAAAAAGC	0.465													7	157	---	---	---	---					
MCM7	4176	broad.mit.edu	37	7	99696705	99696706	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr7:99696705_99696706insT	ENST00000303887.5	-	5	1167_1168	c.522_523insA	c.(520-525)aaccaafs	p.NQ174fs	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Frame_Shift_Ins_p.NQ174fs	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	174					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	ACCATCTTGGGTTTGACTTCAG	0.550													31	100	---	---	---	---					
FAM131B	9715	broad.mit.edu	37	7	143053877	143053878	+	Frame_Shift_Ins	INS	-	-	C			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr7:143053877_143053878insC	ENST00000409408.1	-	6	2472_2473	c.764_765insG	c.(763-765)ggafs	p.G255fs	FAM131B_ENST00000409346.1_Frame_Shift_Ins_p.G255fs|FAM131B_ENST00000409578.1_Frame_Shift_Ins_p.G271fs|FAM131B_ENST00000443739.2_Frame_Shift_Ins_p.G283fs|FAM131B_ENST00000409222.3_Frame_Shift_Ins_p.G255fs			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	255										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					AGTCAGTGTCTCCCCCCAGCAA	0.609													53	256	---	---	---	---					
NEBL	10529	broad.mit.edu	37	10	21104601	21104606	+	In_Frame_Del	DEL	TTACAC	TTACAC	-			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr10:21104601_21104606delTTACAC	ENST00000377122.4	-	22	2585_2590	c.2189_2194delGTGTAA	c.(2188-2196)act>a	p.SVT730del	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	730					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATTTCAGGAGTTACACTTAAAGTGGT	0.325													24	113	---	---	---	---					
CYB561A3	220002	broad.mit.edu	37	11	61124041	61124059	+	Frame_Shift_Del	DEL	CTGGGTGCCAGTTGAACAT	CTGGGTGCCAGTTGAACAT	-			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr11:61124041_61124059delCTGGGTGCCAGTTGAACAT	ENST00000546151.1	-	3	395_413	c.127_145delATGTTCAACTGGCACCCAG	c.(127-147)tgfs	p.MFNWHPV43fs	CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000539890.1_Frame_Shift_Del_p.MFNWHPV43fs|CYB561A3_ENST00000536915.1_Frame_Shift_Del_p.MFNWHPV43fs|CYB561A3_ENST00000426130.2_Frame_Shift_Del_p.MFNWHPV60fs|CYB561A3_ENST00000544118.1_Frame_Shift_Del_p.MFNWHPV43fs|CYB561A3_ENST00000447532.2_Frame_Shift_Del_p.MFNWHPV43fs|CYB561A3_ENST00000294072.4_Frame_Shift_Del_p.MFNWHPV43fs					cytochrome b561 family, member A3																		ACCATAAGCACTGGGTGCCAGTTGAACATGTAGATGCTG	0.553													60	282	---	---	---	---					
PYROXD1	79912	broad.mit.edu	37	12	21621675	21621677	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr12:21621675_21621677delATT	ENST00000538582.1	+	12	2030_2032	c.1277_1279delATT	c.(1276-1281)gat>g	p.DY426del	PYROXD1_ENST00000240651.9_In_Frame_Del_p.DY497del			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	497							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GATATAGAAGATTATTTTGACTA	0.281													4	5	---	---	---	---					
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tfs	p.C168fs	IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													7	260	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25301920	25301920	+	RNA	DEL	C	C	-			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr15:25301920delC	ENST00000549804.2	+	0	98																											GCTCTGGCTTCCCCAGCGTGC	0.552													8	45	---	---	---	---					
SLX4	84464	broad.mit.edu	37	16	3634841	3634841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr16:3634841delG	ENST00000294008.3	-	13	5308	c.4668delC	c.(4666-4668)ccfs	p.P1556fs		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1556	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGGGCACTTTGGGGGGCAAGT	0.502								Direct reversal of damage					78	456	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37618415	37618424	+	Frame_Shift_Del	DEL	AACAGCAGAG	AACAGCAGAG	-			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr17:37618415_37618424delAACAGCAGAG	ENST00000447079.4	+	1	124_133	c.91_100delAACAGCAGAG	c.(91-102)agfs	p.NSRE31fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.NSRE31fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	31					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CGGCAGCTCTAACAGCAGAGAGCGTCACCG	0.567			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			36	160	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													5	4	---	---	---	---					
MIR99AHG	388815	broad.mit.edu	37	21	17443512	17443512	+	RNA	DEL	G	G	-			TCGA-05-4244-01A-01D-1105-08	TCGA-05-4244-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	738c514d-ff0f-4220-9326-236119891df5	34f50d09-4bc8-4adb-a09b-67746ecb2bdc	g.chr21:17443512delG	ENST00000458468.1	+	0	106					NR_027790.1																						GACGAGCTGTGGGAAGCAGGA	0.498													72	269	---	---	---	---					
