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
SAP130	79595	broad.mit.edu	37	2	128775403	128775403	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:128775403G>C	ENST00000357702.5	-	3	408	c.277C>G	c.(277-279)Caa>Gaa	p.Q93E	SAP130_ENST00000259234.6_Missense_Mutation_p.Q67E|SAP130_ENST00000259235.3_Missense_Mutation_p.Q93E	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	93					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACAGGCTCTTGCTTCTCCTCC	0.547000													21	118					0	0	0.001523	0	0
CSNK2A3	283106	broad.mit.edu	37	11	11373824	11373824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:11373824C>T	ENST00000528848.2	-	1	1080	c.843G>A	c.(841-843)tgG>tgA	p.W281*	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		CAAAGCGTTCCCATCGCTTTC	0.453000													15	90					0	0	0.004007	0	0
TOB1	10140	broad.mit.edu	37	17	48941307	48941307	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:48941307A>G	ENST00000499247.2	-	2	505	c.72T>C	c.(70-72)cgT>cgC	p.R24R	TOB1_ENST00000268957.3_Silent_p.R24R|TOB1_ENST00000509385.1_5'UTR	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	24					negative regulation of cell proliferation		SH3/SH2 adaptor activity	p.R22fs*5(1)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AAATGTTGACACGTCTCCTGG	0.373000													11	101					0	0	0.000673	0	0
TMTC2	160335	broad.mit.edu	37	12	83290168	83290168	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:83290168C>G	ENST00000549919.1	+	4	3013	c.1208C>G	c.(1207-1209)aCg>aGg	p.T403R	TMTC2_ENST00000548305.1_Missense_Mutation_p.T409R|TMTC2_ENST00000321196.3_Missense_Mutation_p.T409R			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	409						endoplasmic reticulum|integral to membrane	binding	p.T409R(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GTTCCTGCCACGAACCTGTTT	0.418000													18	109					0	0	0.000743	0	0
OSBPL8	114882	broad.mit.edu	37	12	76791671	76791671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:76791671C>T	ENST00000261183.3	-	8	954	c.475G>A	c.(475-477)Ggt>Agt	p.G159S	OSBPL8_ENST00000393249.2_Missense_Mutation_p.G117S|OSBPL8_ENST00000393250.4_Missense_Mutation_p.G117S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	159	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTTAGAGTACCACGAATCTAC	0.358000													9	30					0	0	0.004482	0	0
NUP50	10762	broad.mit.edu	37	22	45571834	45571834	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:45571834A>G	ENST00000347635.3	+	4	679	c.213A>G	c.(211-213)ggA>ggG	p.G71G	NUP50_ENST00000425733.2_Intron|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000407019.2_Silent_p.G43G|NUP50_ENST00000396096.2_Silent_p.G43G	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	71	Gly-rich.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTGGAGGAGGACGCTTTTCTG	0.493000													8	112					0	0	0.003080	0	0
MGAT1	4245	broad.mit.edu	37	5	180219088	180219088	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:180219088G>T	ENST00000446023.2	-	3	1634	c.884C>A	c.(883-885)cCg>cAg	p.P295Q	MGAT1_ENST00000307826.4_Missense_Mutation_p.P295Q|MGAT1_ENST00000333055.3_Missense_Mutation_p.P295Q|MGAT1_ENST00000393340.3_Missense_Mutation_p.P295Q|MGAT1_ENST00000427865.2_Missense_Mutation_p.P295Q	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	295					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCTGCTCCGGCCGCCGCAT	0.647000													17	12					3.8784e-16	1.21352e-15	0.001882	1	0
ZFHX3	463	broad.mit.edu	37	16	72984464	72984464	+	Silent	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:72984464G>C	ENST00000268489.5	-	3	3792	c.3120C>G	c.(3118-3120)ctC>ctG	p.L1040L	ZFHX3_ENST00000397992.5_Silent_p.L126L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1040					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGTTGCACTTGAGGTGCACGG	0.597000													24	33					0	0	0.002780	0	0
PRKD1	5587	broad.mit.edu	37	14	30103722	30103722	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:30103722G>T	ENST00000331968.5	-	8	1445	c.1216C>A	c.(1216-1218)Ctc>Atc	p.L406I	PRKD1_ENST00000415220.2_Missense_Mutation_p.L414I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	406					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACCCTCATGAGTGGGATATTG	0.403000													25	140					6.32553e-13	1.89766e-12	0.004656	1	0
SWSAP1	126074	broad.mit.edu	37	19	11486363	11486363	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:11486363A>T	ENST00000312423.2	+	2	420	c.361A>T	c.(361-363)Aca>Tca	p.T121S		NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	121																	ACTTCTAGACACAGCTGCCCA	0.637000													76	54					0	0	0.003610	0	0
SRGN	5552	broad.mit.edu	37	10	70847958	70847958	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:70847958T>C	ENST00000242465.3	+	1	85	c.45T>C	c.(43-45)ctT>ctC	p.L15L	SRGN_ENST00000462445.1_3'UTR	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	15					apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						TCCTGGCTCTTGCCCTCATCC	0.493000													17	69					0	0	0.000743	0	0
GLI2	2736	broad.mit.edu	37	2	121747427	121747427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:121747427C>G	ENST00000452319.1	+	14	3997	c.3937C>G	c.(3937-3939)Cca>Gca	p.P1313A	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1313A			P10070	GLI2_HUMAN	GLI family zinc finger 2	1313					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGCTGGAGTGCCACCACCTCA	0.647000													3	32					0	0	0.004672	0	0
CR1	1378	broad.mit.edu	37	1	207755303	207755303	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:207755303G>T	ENST00000367049.4	+	32	5257	c.5257G>T	c.(5257-5259)Gtt>Ttt	p.V1753F	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.V1303F|CR1_ENST00000367052.1_Missense_Mutation_p.V1303F|CR1_ENST00000400960.2_Missense_Mutation_p.V1303F|CR1_ENST00000367053.1_Missense_Mutation_p.V1303F|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1303	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTGTGTCTTGGTTGGAATGAG	0.408000													23	76					2.41591e-17	7.61868e-17	0.004656	1	0
OR52B6	340980	broad.mit.edu	37	11	5602224	5602224	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:5602224C>G	ENST00000345043.2	+	1	118	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCCTGGGCTGGAGCAACT	0.507000													7	59					0	0	0.001984	0	0
RFX6	222546	broad.mit.edu	37	6	117240431	117240431	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:117240431G>A	ENST00000332958.2	+	11	1170	c.1154G>A	c.(1153-1155)cGa>cAa	p.R385Q		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	385					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.R385Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCTCTGAAACGACAAACATCT	0.388000													9	43					0	0	0.004482	0	0
FAT3	120114	broad.mit.edu	37	11	92088407	92088407	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:92088407C>A	ENST00000298047.6	+	1	3146	c.3129C>A	c.(3127-3129)ttC>ttA	p.F1043L	FAT3_ENST00000525166.1_Missense_Mutation_p.F893L|FAT3_ENST00000409404.2_Missense_Mutation_p.F1043L|FAT3_ENST00000541502.1_Missense_Mutation_p.F1043L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1043	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCCCTATTTCCCAGACTTTG	0.507000										TCGA Ovarian(4;0.039)			11	48					2.61681e-11	7.73457e-11	0.002450	1	0
C3orf30	152405	broad.mit.edu	37	3	118870107	118870107	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:118870107G>A	ENST00000295622.1	+	3	1619	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	527										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)		AAAGCCAGAGGACCCCCTGAA	0.363000													84	156					0	0	0.003610	0	0
INSC	387755	broad.mit.edu	37	11	15262059	15262059	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:15262059T>G	ENST00000379554.3	+	12	1647	c.1601T>G	c.(1600-1602)gTg>gGg	p.V534G	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.V445G|INSC_ENST00000379556.3_Missense_Mutation_p.V487G|INSC_ENST00000525218.1_Missense_Mutation_p.V445G|INSC_ENST00000528567.1_Missense_Mutation_p.V487G|INSC_ENST00000530161.1_Missense_Mutation_p.V487G	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	534					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GCCGTGCTTGTGGCCTGCCTG	0.622000													3	32					0	0	0.004672	0	0
DCHS1	8642	broad.mit.edu	37	11	6662065	6662065	+	Silent	SNP	G	G	A	rs144400127		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:6662065G>A	ENST00000299441.3	-	2	1191	c.780C>T	c.(778-780)taC>taT	p.Y260Y		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	260	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAGCATGGTAGCGGCTCT	0.602000													16	113					0	0	0.003163	0	0
LRRC45	201255	broad.mit.edu	37	17	79986313	79986313	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:79986313A>T	ENST00000306688.3	+	11	1508	c.1166A>T	c.(1165-1167)cAg>cTg	p.Q389L		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	389						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAGCAGGAGCAGCTGTTCCAG	0.662000													16	87					0	0	0.000566	0	0
PKN3	29941	broad.mit.edu	37	9	131482522	131482522	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:131482522A>G	ENST00000291906.4	+	21	2810	c.2417A>G	c.(2416-2418)gAg>gGg	p.E806G		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	806	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGGGCAGGTGAGCAGGATGCC	0.642000													21	20					0	0	0.002299	0	0
APOB	338	broad.mit.edu	37	2	21230159	21230159	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:21230159C>A	ENST00000233242.1	-	26	9708	c.9581G>T	c.(9580-9582)tGt>tTt	p.C3194F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3194	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATAAACTCACAAAGCACAGC	0.328000													20	41					4.96729e-08	1.37675e-07	0.001216	1	0
ANP32E	81611	broad.mit.edu	37	1	150202958	150202958	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:150202958T>G	ENST00000314136.8	-	3	644	c.275A>C	c.(274-276)tAc>tCc	p.Y92S	ANP32E_ENST00000436748.2_Intron|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.Y44S|ANP32E_ENST00000369114.5_Missense_Mutation_p.Y92S|ANP32E_ENST00000533654.1_Missense_Mutation_p.Y92S|ANP32E_ENST00000369115.2_Intron	NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	92						cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGATTGAGGTAGGTAAGATT	0.358000													4	43					0	0	0.000248	0	0
OR8D1	283159	broad.mit.edu	37	11	124180027	124180027	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:124180027T>C	ENST00000357821.2	-	1	706	c.636A>G	c.(634-636)ctA>ctG	p.L212L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CAGCAACAGCTAGGGTGGGCA	0.507000													11	27					0	0	0.000978	0	0
ANXA11	311	broad.mit.edu	37	10	81915641	81915641	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:81915641T>A	ENST00000438331.1	-	17	1968	c.1486A>T	c.(1486-1488)Att>Ttt	p.I496F	ANXA11_ENST00000265447.4_Missense_Mutation_p.I496F|ANXA11_ENST00000537102.1_Missense_Mutation_p.I463F|ANXA11_ENST00000422982.3_Missense_Mutation_p.I496F|ANXA11_ENST00000360615.4_Missense_Mutation_p.I496F|ANXA11_ENST00000372231.3_Missense_Mutation_p.I496F|ANXA11_ENST00000535999.1_Missense_Mutation_p.I496F	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	496					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TTCAGCAGAATCTTCCGGTAA	0.517000													36	117					0	0	0.003755	0	0
SIK2	23235	broad.mit.edu	37	11	111593425	111593425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:111593425C>T	ENST00000304987.3	+	14	2265	c.2092C>T	c.(2092-2094)Cag>Tag	p.Q698*		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	698					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GAACACCTGTCAGCTTTATTG	0.502000													26	71					0	0	0.001061	0	0
ATIC	471	broad.mit.edu	37	2	216190845	216190845	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:216190845G>T	ENST00000435675.1	+	5	903	c.512G>T	c.(511-513)cGc>cTc	p.R171L	ATIC_ENST00000540518.1_Missense_Mutation_p.R113L|ATIC_ENST00000236959.9_Missense_Mutation_p.R172L			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	172					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GAGACTAGACGCCAGTTAGCC	0.502000			T	ALK	ALCL								12	41					9.31168e-06	2.40602e-05	0.001855	1	0
LILRA6	79168	broad.mit.edu	37	19	54744856	54744856	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:54744856C>G	ENST00000440558.2	-	5	854	c.806G>C	c.(805-807)gGc>gCc	p.G269A	LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.G269A|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000396365.2_Missense_Mutation_p.G269A|LILRA6_ENST00000245621.5_Missense_Mutation_p.G269A					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGCTGCTGGCCAGGGCGCTG	0.642000													21	68					0	0	0.002780	0	0
KIF1C	10749	broad.mit.edu	37	17	4910344	4910344	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:4910344C>A	ENST00000320785.5	+	14	1657	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	434					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CACGGAGTCCCAGATTGGGCC	0.597000													17	64					0.000566183	0.00137013	0.000566	1	0
LRP6	4040	broad.mit.edu	37	12	12334103	12334103	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:12334103T>C	ENST00000261349.4	-	6	1323	c.1247A>G	c.(1246-1248)aAt>aGt	p.N416S	LRP6_ENST00000543091.1_Missense_Mutation_p.N416S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	416	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCAATAAAGATTTCGTGCAAC	0.478000													13	130					0	0	0.001855	0	0
PRG2	5553	broad.mit.edu	37	11	57155327	57155327	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:57155327T>C	ENST00000311862.5	-	5	583	c.510A>G	c.(508-510)agA>agG	p.R170R	PRG2_ENST00000533605.1_Silent_p.R159R|PRG2_ENST00000525955.1_Silent_p.R170R	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)		ACTGAAAGCGTCTGCAGCGAC	0.627000													7	13					0	0	0.001984	0	0
IQGAP2	10788	broad.mit.edu	37	5	75989261	75989261	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:75989261G>T	ENST00000274364.6	+	31	4284	c.3987G>T	c.(3985-3987)gcG>gcT	p.A1329A	IQGAP2_ENST00000379730.3_Silent_p.A831A|IQGAP2_ENST00000396234.3_Silent_p.A825A|IQGAP2_ENST00000502745.1_Silent_p.A825A|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1329					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CAGCAACTGCGCAACAGGTAA	0.363000													7	19					5.4927e-09	1.54374e-08	0.004482	1	0
C6orf25	80739	broad.mit.edu	37	6	31692374	31692374	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:31692374C>A	ENST00000375809.3	+	4	522	c.511C>A	c.(511-513)Ccg>Acg	p.P171T	C6orf25_ENST00000480039.1_Missense_Mutation_p.P171T|C6orf25_ENST00000375805.2_Silent_p.P140P|C6orf25_ENST00000375810.4_Missense_Mutation_p.P171T	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	171						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						GCGCCTGCCCCCGCAACCGAT	0.542000													14	86					2.23348e-06	5.84647e-06	0.004007	1	0
RIC8B	55188	broad.mit.edu	37	12	107254088	107254088	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:107254088G>T	ENST00000392837.4	+	8	1500	c.1349G>T	c.(1348-1350)gGa>gTa	p.G450V	RIC8B_ENST00000549643.1_5'UTR|RIC8B_ENST00000355478.2_Missense_Mutation_p.G410V|RIC8B_ENST00000392839.2_Missense_Mutation_p.G450V			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	450					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						AATGCTGCAGGACTGTTGGCG	0.463000													12	41					7.03913e-09	1.96458e-08	0.001368	1	0
BOC	91653	broad.mit.edu	37	3	112999437	112999437	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:112999437C>A	ENST00000495514.1	+	14	2939	c.2235C>A	c.(2233-2235)atC>atA	p.I745I	BOC_ENST00000273395.4_Silent_p.I746I|BOC_ENST00000355385.3_Silent_p.I745I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	745	Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ACACCCCAATCCATGGCTTTT	0.413000													10	41					0.000442599	0.00107431	0.000443	1	0
STARD13	90627	broad.mit.edu	37	13	33701605	33701605	+	Silent	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:33701605C>G	ENST00000336934.5	-	6	1943	c.1827G>C	c.(1825-1827)acG>acC	p.T609T	STARD13_ENST00000399365.3_Silent_p.T491T|STARD13_ENST00000255486.4_Silent_p.T601T	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	609					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCTGGCTGGCCGTCTGGCTGC	0.632000													8	8					0	0	0.003080	0	0
NPY2R	4887	broad.mit.edu	37	4	156136121	156136121	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:156136121C>G	ENST00000329476.3	+	2	1519	c.1030C>G	c.(1030-1032)Cag>Gag	p.Q344E	NPY2R_ENST00000506608.1_Missense_Mutation_p.Q344E	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	344					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCGCTGTGAGCAGCGGTTGGA	0.512000													14	71					0	0	0.002450	0	0
STC1	6781	broad.mit.edu	37	8	23702425	23702425	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:23702425T>G	ENST00000290271.2	-	4	885	c.602A>C	c.(601-603)cAc>cCc	p.H201P	STC1_ENST00000524323.1_Missense_Mutation_p.H132P	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	201					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TTGGGCACAGTGGTCTGTCTG	0.542000													13	48					0	0	0.001368	0	0
A4GNT	51146	broad.mit.edu	37	3	137843691	137843691	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:137843691G>T	ENST00000236709.3	-	3	639	c.438C>A	c.(436-438)ctC>ctA	p.L146L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	146					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AGCTGATGTGGAGCCAGTTTC	0.587000													6	68					0.00198382	0.00471525	0.001984	1	0
PLEKHH3	79990	broad.mit.edu	37	17	40825796	40825796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:40825796G>A	ENST00000293349.6	-	4	785	c.355C>T	c.(355-357)Cga>Tga	p.R119*	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Nonsense_Mutation_p.R119*|PLEKHH3_ENST00000412503.1_Nonsense_Mutation_p.R119*			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	119	PH.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AACCAGGCTCGGCGCGGGGGC	0.697000													7	5					0	0	0.001984	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105428104	105428104	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:105428104T>A	ENST00000258494.9	-	19	2358	c.2218A>T	c.(2218-2220)Atc>Ttc	p.I740F	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	740	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TCGTCGTGGATGGATTCTTCC	0.418000													6	42					0	0	0.001984	0	0
CCDC181	57821	broad.mit.edu	37	1	169390781	169390781	+	Silent	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:169390781G>C	ENST00000545005.1	-	4	1395	c.888C>G	c.(886-888)ctC>ctG	p.L296L	CCDC181_ENST00000367806.3_Silent_p.L296L|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Silent_p.L296L					coiled-coil domain containing 181																		TCTTGCGGTTGAGTGGTGGCT	0.478000													45	117					0	0	0.003610	0	0
PTDSS2	81490	broad.mit.edu	37	11	489914	489914	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:489914T>C	ENST00000308020.5	+	11	1323	c.1147T>C	c.(1147-1149)Tgg>Cgg	p.W383R		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	383						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CCCGCAGGCCTGGCTGGTGGC	0.692000													5	17					0	0	0.001168	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92837946	92837946	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:92837946T>C	ENST00000394468.2	-	4	1036	c.959A>G	c.(958-960)aAc>aGc	p.N320S	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.N308S|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.N343S|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.N308S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	320	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GCCGGTTATGTTGTTGTAAGC	0.408000													11	159					0	0	0.001368	0	0
FCRL4	83417	broad.mit.edu	37	1	157557331	157557331	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:157557331C>A	ENST00000271532.1	-	5	717	c.582G>T	c.(580-582)gaG>gaT	p.E194D	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	194	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TAGCTTTCAGCTCTGGATGTG	0.483000													13	125					0.000151284	0.000372858	0.001855	1	0
KDR	3791	broad.mit.edu	37	4	55970955	55970955	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:55970955G>T	ENST00000263923.4	-	13	2137	c.1842C>A	c.(1840-1842)gcC>gcA	p.A614A		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	614	Ig-like C2-type 6.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGAACATGGTGGCATTCAATT	0.463000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			17	91					4.7546e-09	1.35532e-08	0.004007	1	0
WDR90	197335	broad.mit.edu	37	16	703573	703573	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:703573C>A	ENST00000549091.1	+	12	1374	c.1282C>A	c.(1282-1284)Cag>Aag	p.Q428K	WDR90_ENST00000293879.4_Missense_Mutation_p.Q428K	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	428										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCTCGGCCCAGGCAAGGGC	0.652000													19	71					1.56452e-12	4.67606e-12	0.000958	1	0
H3F3C	440093	broad.mit.edu	37	12	31944920	31944920	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:31944920G>A	ENST00000340398.3	-	1	255	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	61					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TTCCGGATGAGCAGCTCGGTC	0.602000										HNSCC(67;0.2)			32	52					0	0	0.001786	0	0
MGST3	4259	broad.mit.edu	37	1	165624686	165624686	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:165624686A>T	ENST00000367889.3	+	6	844	c.404A>T	c.(403-405)cAg>cTg	p.Q135L	MGST3_ENST00000367883.1_Missense_Mutation_p.Q149L|MGST3_ENST00000367886.2_Missense_Mutation_p.Q149L|MGST3_ENST00000367888.4_Intron|MGST3_ENST00000404549.1_Missense_Mutation_p.Q149L|MGST3_ENST00000367885.1_Missense_Mutation_p.Q149L|MGST3_ENST00000367884.1_Missense_Mutation_p.Q135L	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	135					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	TCTGCTTTCCAGCATCTTGGT	0.473000													12	34					0	0	0.001368	0	0
ZNF547	284306	broad.mit.edu	37	19	57888603	57888603	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:57888603C>A	ENST00000282282.3	+	4	409	c.259C>A	c.(259-261)Cag>Aag	p.Q87K	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAGAATACCCAGCCCTGTGA	0.547000													19	31					9.7654e-05	0.000243679	0.000958	1	0
PIK3C3	5289	broad.mit.edu	37	18	39618758	39618758	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr18:39618758A>C	ENST00000262039.4	+	18	2068	c.1982A>C	c.(1981-1983)gAa>gCa	p.E661A	PIK3C3_ENST00000398870.3_Missense_Mutation_p.E598A|PIK3C3_ENST00000587402.1_Missense_Mutation_p.E8A|PIK3C3_ENST00000593098.1_Missense_Mutation_p.E146A|PIK3C3_ENST00000589056.1_Missense_Mutation_p.E8A	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	661	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTACGGAAAGAAAATCTGGAC	0.299000										TSP Lung(28;0.18)			10	30					0	0	0.000673	0	0
BAGE2	85319	broad.mit.edu	37	21	11098776	11098776	+	RNA	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr21:11098776C>A	ENST00000470054.1	-	0	149									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tcaggccgccctcctaacact	0.632000													15	120					4.7546e-09	1.35532e-08	0.004007	1	0
GRIN2B	2904	broad.mit.edu	37	12	14018732	14018732	+	Splice_Site	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:14018732C>T	ENST00000279593.3	-	2	620	c.411_splice	c.e2+1	p.K137_splice		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	137					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCTTTTTACCTTATCTGCCA	0.493000													123	142					0	0	0.003610	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761863	130761863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:130761863C>T	ENST00000392429.1	+	2	2674	c.296C>T	c.(295-297)aCa>aTa	p.T99I	TMEM200A_ENST00000296978.3_Missense_Mutation_p.T99I|TMEM200A_ENST00000545622.1_Missense_Mutation_p.T99I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	99						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ACACTGTCAACAAATGAAACT	0.418000													27	42					0	0	0.000878	0	0
NUP210	23225	broad.mit.edu	37	3	13438951	13438951	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:13438951G>T	ENST00000254508.5	-	3	424	c.342C>A	c.(340-342)gaC>gaA	p.D114E		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	114					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CATGGATGAGGTCCACAATGG	0.622000													13	35					2.62699e-14	8.00083e-14	0.003163	1	0
ABL1	25	broad.mit.edu	37	9	133738362	133738362	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:133738362G>A	ENST00000318560.5	+	4	1143	c.762G>A	c.(760-762)ggG>ggA	p.G254G		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	254	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GCCAGTACGGGGAGGTGTACG	0.617000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								10	40					0	0	0.000443	0	0
TTLL10	254173	broad.mit.edu	37	1	1120451	1120451	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:1120451C>A	ENST00000379290.1	+	13	1536	c.1363C>A	c.(1363-1365)Cgg>Agg	p.R455R	TTLL10_ENST00000379288.3_Silent_p.R382R|TTLL10_ENST00000379289.1_Silent_p.R455R			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	455	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGAAGGCCCGGGGCCTCGC	0.612000													14	14					9.31168e-06	2.40602e-05	0.001855	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409156	56409156	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:56409156C>A	ENST00000544374.1	-	1	791	c.763G>T	c.(763-765)Gtc>Ttc	p.V255F	OR5AP2_ENST00000302981.1_Missense_Mutation_p.V254F			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AATATGGTGACAGCCATGAGG	0.458000													18	67					6.94344e-10	2.00783e-09	0.000743	1	0
SMARCA4	6597	broad.mit.edu	37	19	11138619	11138619	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:11138619G>T	ENST00000358026.2	+	24	3659	c.3375G>T	c.(3373-3375)agG>agT	p.R1125S	SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1125S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1125S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1125S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1125S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1125S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1125S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1125S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1125S	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1125	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AATACCTCAGGCTTGATGGTG	0.512000			"""F, N, Mis"""		NSCLC								43	89					2.54354e-34	8.45384e-34	0.002222	1	0
MYH15	22989	broad.mit.edu	37	3	108147552	108147552	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:108147552G>A	ENST00000273353.3	-	28	3605	c.3549C>T	c.(3547-3549)ttC>ttT	p.F1183F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1183						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCAGCTTCTGGAATTTGGTTT	0.507000													15	72					0	0	0.003163	0	0
KIF26B	55083	broad.mit.edu	37	1	245848773	245848773	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:245848773C>T	ENST00000366518.4	+	9	1449	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	KIF26B_ENST00000407071.2_Silent_p.L830L			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	830	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCCACCCAGCTGAGACCCTT	0.642000													10	42					0	0	0.000673	0	0
DNAH5	1767	broad.mit.edu	37	5	13714614	13714614	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:13714614T>A	ENST00000265104.4	-	75	13129	c.13025A>T	c.(13024-13026)aAg>aTg	p.K4342M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4342					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGGTGTCCTTGGGTTGGAT	0.607000									Kartagener syndrome				15	76					0	0	0.004007	0	0
MYRIP	25924	broad.mit.edu	37	3	40231705	40231705	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:40231705G>A	ENST00000302541.6	+	10	1758	c.1416G>A	c.(1414-1416)ctG>ctA	p.L472L	MYRIP_ENST00000539167.1_Silent_p.L285L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Silent_p.L383L|MYRIP_ENST00000444716.1_Silent_p.L472L|MYRIP_ENST00000425621.1_Silent_p.L472L	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	472	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGGCCAGACTGTCCTGGTTGC	0.627000													37	41					0	0	0.001111	0	0
USP34	9736	broad.mit.edu	37	2	61415830	61415830	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:61415830T>A	ENST00000398571.2	-	80	10124	c.10048A>T	c.(10048-10050)Act>Tct	p.T3350S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3350					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTAATGGGAGTTGCTCCTTCA	0.463000													20	61					0	0	0.002780	0	0
TRIML1	339976	broad.mit.edu	37	4	189068327	189068327	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:189068327C>A	ENST00000332517.3	+	6	1348	c.1208C>A	c.(1207-1209)cCt>cAt	p.P403H	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	403	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTCAGAGAGCCTGTGTGTAAG	0.488000													21	68					4.35082e-09	1.24911e-08	0.001523	1	0
NEK10	152110	broad.mit.edu	37	3	27203967	27203967	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:27203967T>A	ENST00000429845.2	-	32	3357	c.2995A>T	c.(2995-2997)Aat>Tat	p.N999Y	NEK10_ENST00000383770.3_Intron|NEK10_ENST00000383771.4_Missense_Mutation_p.N311Y|NEK10_ENST00000295720.6_Missense_Mutation_p.N311Y|NEK10_ENST00000498182.1_Intron|NEK10_ENST00000357467.2_Missense_Mutation_p.N396Y			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	999							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCTTTGAGATTTCGAAGAATC	0.463000													28	54					0	0	0.001271	0	0
FPGT	8790	broad.mit.edu	37	1	74670983	74670983	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:74670983G>T	ENST00000370898.2	+	4	1289	c.1252G>T	c.(1252-1254)Gtt>Ttt	p.V418F	TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.V164F|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370894.4_Missense_Mutation_p.Q145H	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ACCTGGCTCAGTTGTGGAGTA	0.433000													44	52					9.39024e-22	3.03289e-21	0.002222	1	0
EFCAB12	90288	broad.mit.edu	37	3	129140646	129140646	+	Splice_Site	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:129140646C>T	ENST00000505956.1	-	2	212	c.49_splice	c.e2-1	p.G17_splice	EFCAB12_ENST00000326085.3_Splice_Site_p.G17_splice	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		CGGGCAGAGTCCTTGGGGTAA	0.507000													9	15					0	0	0.004482	0	0
REG1A	5967	broad.mit.edu	37	2	79349171	79349171	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:79349171G>T	ENST00000233735.1	+	4	344	c.241G>T	c.(241-243)Ggt>Tgt	p.G81C		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	81	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.G81C(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCAGGCCGAGGGTGCCTTTGT	0.517000													32	103					3.80469e-20	1.20935e-19	0.001786	1	0
TPPP3	51673	broad.mit.edu	37	16	67425061	67425061	+	Translation_Start_Site	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:67425061C>A	ENST00000564104.1	-	0	795				TPPP3_ENST00000393957.2_Intron|TPPP3_ENST00000290942.5_Intron|TPPP3_ENST00000562206.1_Intron			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3						microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CCAATCTGCCCTTCCCCTCCC	0.607000													10	18					1.58986e-06	4.18908e-06	0.000673	1	0
VAX1	11023	broad.mit.edu	37	10	118896129	118896129	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:118896129G>A	ENST00000277905.2	-	2	527	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	VAX1_ENST00000369206.5_Silent_p.L95L	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	95						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TCCAAGTCCAGGCCCTTGGGC	0.657000													17	57					0	0	0.001216	0	0
PRCP	5547	broad.mit.edu	37	11	82571102	82571102	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:82571102C>A	ENST00000313010.3	-	2	420	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Missense_Mutation_p.D97Y	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	76					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CAGTATTTATCAGCTACTAGG	0.323000													5	35					0.000602214	0.00144857	0.000602	1	0
CHRNB3	1142	broad.mit.edu	37	8	42563960	42563960	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:42563960T>C	ENST00000289957.2	+	2	281	c.153T>C	c.(151-153)aaT>aaC	p.N51N	RP11-412B14.1_ENST00000527318.1_RNA	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	51					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TACATTCTAATGACACCATAA	0.408000													32	56					0	0	0.002096	0	0
DISP1	84976	broad.mit.edu	37	1	223116610	223116610	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:223116610C>T	ENST00000284476.6	+	2	609	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	DISP1_ENST00000360254.2_Silent_p.L149L|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	149					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATCCTTCTGCCTGCATCATCC	0.473000													24	85					0	0	0.002299	0	0
NEXN	91624	broad.mit.edu	37	1	78390878	78390878	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:78390878G>A	ENST00000330010.8	+	5	558	c.261G>A	c.(259-261)gaG>gaA	p.E87E	NEXN_ENST00000334785.7_Silent_p.E151E|NEXN_ENST00000457030.1_Intron	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	151	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AATAGATTGAGGACATAAACA	0.289000													4	9					0	0	0.000602	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	51					0	0	0.000602	0	0
VWA3B	200403	broad.mit.edu	37	2	98797619	98797619	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:98797619G>T	ENST00000477737.1	+	9	1459	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	VWA3B_ENST00000451075.2_Missense_Mutation_p.D269Y|VWA3B_ENST00000435344.1_Missense_Mutation_p.D419Y	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	419										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCGCCACGCTGATGGGGTTGT	0.552000													31	103					5.8336e-16	1.81818e-15	0.003271	1	0
PCLO	27445	broad.mit.edu	37	7	82580057	82580057	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:82580057G>C	ENST00000423517.2	-	6	10184	c.9847C>G	c.(9847-9849)Cag>Gag	p.Q3283E	PCLO_ENST00000333891.8_Missense_Mutation_p.Q3283E|PCLO_ENST00000437081.1_Missense_Mutation_p.Q3E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3214					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACGTCTCCTGCCTCATCATG	0.483000													19	175					0	0	0.001882	0	0
REST	5978	broad.mit.edu	37	4	57797980	57797980	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:57797980T>C	ENST00000309042.7	+	4	3270	c.2956T>C	c.(2956-2958)Tcc>Ccc	p.S986P		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	986					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGAAGCAGTGTCCAAAACTGC	0.453000													3	66					0	0	0.004672	0	0
PTGS1	5742	broad.mit.edu	37	9	125154726	125154726	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:125154726G>T	ENST00000362012.2	+	11	1708	c.1703G>T	c.(1702-1704)tGc>tTc	p.C568F	PTGS1_ENST00000540753.1_Missense_Mutation_p.C506F|PTGS1_ENST00000223423.4_Missense_Mutation_p.C531F|PTGS1_ENST00000373698.5_Missense_Mutation_p.C459F	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	568					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	AAGCTGGTCTGCCTCAACACC	0.577000													40	65					1.49673e-21	4.81479e-21	0.001287	1	0
NDEL1	81565	broad.mit.edu	37	17	8383805	8383805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:8383805C>T	ENST00000299734.7	+	9	1164	c.967C>T	c.(967-969)Cga>Tga	p.R323*	MYH10_ENST00000360416.3_Missense_Mutation_p.R1768Q|MYH10_ENST00000379980.4_Missense_Mutation_p.R1753Q|MYH10_ENST00000269243.4_Missense_Mutation_p.R1737Q|MYH10_ENST00000396239.1_Missense_Mutation_p.R1758Q			Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	0	Interaction with CENPF.|Interaction with NEFL (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						CTGTGCGATCCGAGCTTCCAG	0.632000													10	12					0	0	0.000443	0	0
AK7	122481	broad.mit.edu	37	14	96937852	96937852	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:96937852A>G	ENST00000267584.4	+	13	1439	c.1395A>G	c.(1393-1395)aaA>aaG	p.K465K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	465	Adenylate kinase.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GATTTATGAAAGAAAAGCTAA	0.294000													4	32					0	0	0.000248	0	0
GREB1	9687	broad.mit.edu	37	2	11696840	11696840	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:11696840A>T	ENST00000381486.2	+	2	400	c.100A>T	c.(100-102)Agg>Tgg	p.R34W	GREB1_ENST00000389825.3_Intron|GREB1_ENST00000234142.5_Missense_Mutation_p.R34W|GREB1_ENST00000263834.5_Missense_Mutation_p.R34W|GREB1_ENST00000381483.2_Missense_Mutation_p.R34W	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	34						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTGGTGCCCAGGCCCATCTT	0.517000													13	57					0	0	0.001855	0	0
LILRB5	10990	broad.mit.edu	37	19	54755925	54755925	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:54755925C>G	ENST00000450632.1	-	12	1671	c.1594G>C	c.(1594-1596)Gat>Cat	p.D532H	LILRB5_ENST00000345866.6_Missense_Mutation_p.D441H|LILRB5_ENST00000316219.5_Missense_Mutation_p.D540H|LILRB5_ENST00000449561.2_Missense_Mutation_p.D541H			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	540					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACCCGAGCATCCATCTCCACC	0.627000													4	160					0	0	0.000602	0	0
OR5L2	26338	broad.mit.edu	37	11	55595286	55595286	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:55595286C>A	ENST00000378397.1	+	1	592	c.592C>A	c.(592-594)Ctg>Atg	p.L198M		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GAATGAGACACTGCTGTTCCT	0.448000										HNSCC(27;0.073)			46	159					4.44401e-20	1.40698e-19	0.002522	1	0
C6orf118	168090	broad.mit.edu	37	6	165715309	165715309	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:165715309G>T	ENST00000543069.1	-	2	771	c.190C>A	c.(190-192)Cct>Act	p.P64T	C6orf118_ENST00000230301.8_Missense_Mutation_p.P168T			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	168										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CATCCAGGAGGGCCCCGTCCA	0.622000													33	42					8.4185e-14	2.55425e-13	0.002445	1	0
AHRR	57491	broad.mit.edu	37	5	422969	422969	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:422969G>A	ENST00000316418.5	+	6	623	c.579G>A	c.(577-579)gaG>gaA	p.E193E	AHRR_ENST00000505113.1_Silent_p.E193E|AHRR_ENST00000512529.1_Silent_p.E39E|AHRR_ENST00000506456.1_Silent_p.E49E	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CGCCCTTGGAGACAGGTGGGT	0.602000													8	32					0	0	0.003080	0	0
RPAIN	84268	broad.mit.edu	37	17	5323592	5323592	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:5323592G>T	ENST00000381209.3	+	1	632	c.62G>T	c.(61-63)tGg>tTg	p.W21L	RPAIN_ENST00000574003.1_Missense_Mutation_p.W21L|RPAIN_ENST00000327154.6_Missense_Mutation_p.W21L|RPAIN_ENST00000536255.2_Missense_Mutation_p.W21L|RPAIN_ENST00000381208.5_Missense_Mutation_p.W21L|RPAIN_ENST00000405578.4_Missense_Mutation_p.W21L	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	21					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						TCGCCGCCTTGGAAAGAGGCT	0.627000													12	34					2.27111e-07	6.20874e-07	0.001368	1	0
RNF40	9810	broad.mit.edu	37	16	30776589	30776589	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:30776589G>A	ENST00000324685.6	+	7	1294	c.859G>A	c.(859-861)Gag>Aag	p.E287K	RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Missense_Mutation_p.E287K|RNF40_ENST00000563683.1_Missense_Mutation_p.E287K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	287					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GTGGGACATCGAGAAGCTGCG	0.582000													10	66					0	0	0.000673	0	0
PLCL2	23228	broad.mit.edu	37	3	17052474	17052474	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:17052474A>T	ENST00000418129.2	+	2	1723	c.1258A>T	c.(1258-1260)Aca>Tca	p.T420S	PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000432376.1_Missense_Mutation_p.T420S|PLCL2_ENST00000396755.2_Missense_Mutation_p.T420S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	546					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCTCTATACAACATCACCCAA	0.388000													8	26					0	0	0.003080	0	0
QRICH2	84074	broad.mit.edu	37	17	74271917	74271917	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:74271917G>A	ENST00000262765.5	-	18	5146	c.4967C>T	c.(4966-4968)tCg>tTg	p.S1656L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1656							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTTGCCAGCCGAAATCTGGGC	0.672000													10	32					0	0	0.000978	0	0
VWA3B	200403	broad.mit.edu	37	2	98916586	98916586	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:98916586T>C	ENST00000477737.1	+	25	3531	c.3327T>C	c.(3325-3327)ttT>ttC	p.F1109F	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1109										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAAAGGATTTGACTTCTATG	0.388000													46	131					0	0	0.003214	0	0
CTD-2012J19.3	0	broad.mit.edu	37	5	1598397	1598397	+	RNA	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:1598397C>A	ENST00000605200.1	+	0	622																											TTAGTGTTTTCCAGGCTGAGA	0.537000													9	45					5.4927e-09	1.54374e-08	0.004482	1	0
EPB41L5	57669	broad.mit.edu	37	2	120844792	120844792	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:120844792G>A	ENST00000263713.5	+	11	1063	c.849G>A	c.(847-849)ttG>ttA	p.L283L	EPB41L5_ENST00000443124.1_Silent_p.L283L|EPB41L5_ENST00000452780.1_Silent_p.L283L|EPB41L5_ENST00000443902.2_Silent_p.L283L|EPB41L5_ENST00000331393.4_Silent_p.L283L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	283	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AATTAACCTTGGTGGTTGTAG	0.289000													13	43					0	0	0.001855	0	0
BCL2L13	23786	broad.mit.edu	37	22	18210216	18210216	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:18210216G>C	ENST00000317582.5	+	7	1721	c.1374G>C	c.(1372-1374)aaG>aaC	p.K458N	BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000543133.1_Missense_Mutation_p.K296N|BCL2L13_ENST00000538149.1_Missense_Mutation_p.K334N|BCL2L13_ENST00000337612.5_Missense_Mutation_p.K296N|BCL2L13_ENST00000485631.1_3'UTR	NM_015367.2	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	458					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CTGAGGGCAAGTCTATACTGC	0.597000													11	188					0	0	0.000673	0	0
ILK	3611	broad.mit.edu	37	11	6629415	6629415	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:6629415C>A	ENST00000396751.2	+	2	685	c.229C>A	c.(229-231)Cat>Aat	p.H77N	ILK_ENST00000299421.4_Missense_Mutation_p.H77N|ILK_ENST00000420936.2_Missense_Mutation_p.H77N|ILK_ENST00000528995.1_Missense_Mutation_p.H77N|ILK_ENST00000537806.1_Intron	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	77	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GGCAGCCAGTCATGGACACCG	0.527000													8	74					2.17888e-05	5.55822e-05	0.000443	1	0
PITX2	5308	broad.mit.edu	37	4	111539443	111539443	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:111539443G>C	ENST00000354925.2	-	7	2497	c.792C>G	c.(790-792)taC>taG	p.Y264*	PITX2_ENST00000355080.5_Nonsense_Mutation_p.Y218*|PITX2_ENST00000306732.3_Nonsense_Mutation_p.Y271*|PITX2_ENST00000394598.2_Nonsense_Mutation_p.Y264*|PITX2_ENST00000394595.3_3'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	264					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TCGGCGGCGCGTAAGGACAGG	0.592000													8	55					0	0	0.004482	0	0
TOMM40	10452	broad.mit.edu	37	19	45406351	45406351	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:45406351G>A	ENST00000426677.2	+	9	1191	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L	TOMM40_ENST00000592434.1_3'UTR|TOMM40_ENST00000405636.2_Silent_p.L337L|TOMM40_ENST00000252487.5_Silent_p.L337L	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	337					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CCCTGCCCCTGACACTGGCCC	0.627000													15	52					0	0	0.002450	0	0
RPAIN	84268	broad.mit.edu	37	17	5323591	5323591	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:5323591T>C	ENST00000381209.3	+	1	631	c.61T>C	c.(61-63)Tgg>Cgg	p.W21R	RPAIN_ENST00000574003.1_Missense_Mutation_p.W21R|RPAIN_ENST00000327154.6_Missense_Mutation_p.W21R|RPAIN_ENST00000536255.2_Missense_Mutation_p.W21R|RPAIN_ENST00000381208.5_Missense_Mutation_p.W21R|RPAIN_ENST00000405578.4_Missense_Mutation_p.W21R	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	21					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CTCGCCGCCTTGGAAAGAGGC	0.627000													12	35					0	0	0.001855	0	0
ATP1B4	23439	broad.mit.edu	37	X	119509289	119509289	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:119509289C>A	ENST00000218008.3	+	5	682	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	ATP1B4_ENST00000539306.1_Missense_Mutation_p.Q166K|ATP1B4_ENST00000361319.3_Missense_Mutation_p.Q205K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	209					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GTACTTCATCCAAGATGGCAA	0.458000													109	34					2.34315e-34	7.82028e-34	0.003610	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563937	140563937	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:140563937G>C	ENST00000361016.2	+	1	2958	c.1803G>C	c.(1801-1803)tgG>tgC	p.W601C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		601	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAATGCCTGGCTGTCGTACC	0.721000													52	40					0	0	0.003610	0	0
TECTB	6975	broad.mit.edu	37	10	114053774	114053774	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:114053774C>T	ENST00000369422.3	+	6	626	c.626C>T	c.(625-627)tCg>tTg	p.S209L		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	209	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.S209*(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GCCACCCCCTCGGCTGACTTC	0.468000													19	44					0	0	0.001216	0	0
DLX5	1749	broad.mit.edu	37	7	96651486	96651486	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:96651486G>C	ENST00000486603.2	-	2	877	c.551C>G	c.(550-552)gCg>gGg	p.A184G	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000222598.4_Intron			P56178	DLX5_HUMAN	distal-less homeobox 5	0					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCATGGCAGCGCCGTATTTAC	0.572000													102	66					0	0	0.003610	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135284	126135284	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:126135284T>C	ENST00000299308.3	+	7	1692	c.1684T>C	c.(1684-1686)Tcc>Ccc	p.S562P	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S74P	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	562						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACGAGGCTGCTCCCTGCAGTA	0.572000													11	42					0	0	0.000978	0	0
SLC13A2	9058	broad.mit.edu	37	17	26822750	26822750	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:26822750C>T	ENST00000444914.3	+	10	1953	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	SLC13A2_ENST00000545060.1_Silent_p.I419I|SLC13A2_ENST00000314669.5_Silent_p.I462I|SLC13A2_ENST00000537681.1_Silent_p.I391I	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	462						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TTGCCATCATCCTCTCCCTCC	0.612000													51	112					0	0	0.003610	0	0
IRX2	153572	broad.mit.edu	37	5	2749089	2749089	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:2749089C>T	ENST00000382611.6	-	3	981	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.A245T	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GGGTCCCCGGCGCGGCACGGA	0.701000													7	36					0	0	0.001984	0	0
NANOGP1	404635	broad.mit.edu	37	12	8048329	8048329	+	RNA	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:8048329C>A	ENST00000607111.1	+	0	257																				kidney(1)|lung(4)|prostate(1)	6						ACCTCAGCTACAAACAGGTAG	0.423000													4	23					0.000602214	0.00144857	0.000602	1	0
DCHS1	8642	broad.mit.edu	37	11	6662629	6662629	+	Silent	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:6662629C>G	ENST00000299441.3	-	2	627	c.216G>C	c.(214-216)acG>acC	p.T72T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	72	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGAGCTGCCGTGCCTGCCG	0.632000													9	18					0	0	0.000443	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192549	132192549	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:132192549G>C	ENST00000359827.3	-	2	1866	c.904C>G	c.(904-906)Cgc>Ggc	p.R302G	PLXNA4_ENST00000378539.5_Missense_Mutation_p.R302G|PLXNA4_ENST00000321063.4_Missense_Mutation_p.R302G|PLXNA4_ENST00000423507.2_Missense_Mutation_p.R302G			Q9HCM2	PLXA4_HUMAN	plexin A4	302	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACCCCACTGCGCTCACAGCCA	0.592000													11	41					0	0	0.000978	0	0
TBRG4	9238	broad.mit.edu	37	7	45141455	45141455	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:45141455G>A	ENST00000258770.3	-	8	1657	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	TBRG4_ENST00000494076.1_Silent_p.L512L|TBRG4_ENST00000361278.3_Silent_p.L402L|TBRG4_ENST00000395655.4_Silent_p.L402L	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	512					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						TGGCCACCTCGAGGCTGCCCT	0.662000													15	62					0	0	0.002450	0	0
KRT73	319101	broad.mit.edu	37	12	53011886	53011886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:53011886G>C	ENST00000305748.3	-	1	457	c.423C>G	c.(421-423)aaC>aaG	p.N141K		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	141	Coil 1A.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGCGAACTTGTTGTTCAGCA	0.547000													33	96					0	0	0.002836	0	0
GLRB	2743	broad.mit.edu	37	4	158091726	158091726	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:158091726G>C	ENST00000264428.4	+	10	1610	c.1340G>C	c.(1339-1341)gGa>gCa	p.G447A	GLRB_ENST00000509282.1_Missense_Mutation_p.G447A|GLRB_ENST00000512619.1_3'UTR|GLRB_ENST00000541722.1_3'UTR	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	447					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GTTAACAACGGACTTGGGAAA	0.413000													3	47					0	0	0.004672	0	0
OR4N2	390429	broad.mit.edu	37	14	20295661	20295661	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:20295661C>A	ENST00000315947.1	+	1	54	c.54C>A	c.(52-54)acC>acA	p.T18T	OR4N2_ENST00000568211.1_Silent_p.T18T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T18T(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGTCTGACCCAGTCTCAAG	0.383000													20	136					8.34094e-07	2.21963e-06	0.001216	1	0
C2orf16	84226	broad.mit.edu	37	2	27800686	27800686	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:27800686C>T	ENST00000408964.2	+	1	1298	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	416										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATGGAGGAATCTTTAGAGGTG	0.473000													8	70					0	0	0.003080	0	0
RYR3	6263	broad.mit.edu	37	15	33944987	33944987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:33944987G>A	ENST00000389232.4	+	32	4281	c.4211G>A	c.(4210-4212)cGg>cAg	p.R1404Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R1404Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1404	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGATCAAATCGGAGCAACGTG	0.537000													11	50					0	0	0.000673	0	0
NTN3	4917	broad.mit.edu	37	16	2522435	2522435	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:2522435G>C	ENST00000293973.1	+	1	936	c.733G>C	c.(733-735)Gca>Cca	p.A245P		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	245	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TTACTCCTACGCAGCCACCGA	0.652000													8	57					0	0	0.004482	0	0
PRDM9	56979	broad.mit.edu	37	5	23524491	23524491	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:23524491C>G	ENST00000296682.3	+	10	1181	c.999C>G	c.(997-999)ttC>ttG	p.F333L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	333	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						TGGTGGCCTTCCAGTACCACA	0.537000										HNSCC(3;0.000094)			13	57					0	0	0.000566	0	0
HERC5	51191	broad.mit.edu	37	4	89407343	89407343	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:89407343A>G	ENST00000264350.3	+	14	1968	c.1815A>G	c.(1813-1815)gtA>gtG	p.V605V	HERC5_ENST00000508159.1_Silent_p.V243V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	605					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATTTTTTTGTAGAAGTATGCA	0.358000													18	43					0	0	0.001216	0	0
TRIM67	440730	broad.mit.edu	37	1	231333150	231333150	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:231333150G>C	ENST00000444294.3	+	2	1936	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	TRIM67_ENST00000449018.3_Missense_Mutation_p.D298H|TRIM67_ENST00000366652.2_Missense_Mutation_p.D360H|TRIM67_ENST00000366653.5_Missense_Mutation_p.D360H	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	360						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGGAGTTTCAGATAAGGCAAA	0.408000													25	60					0	0	0.001061	0	0
TGM6	343641	broad.mit.edu	37	20	2413288	2413288	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:2413288G>T	ENST00000202625.2	+	13	2181	c.2120G>T	c.(2119-2121)tGa>tTa	p.*707L	TGM6_ENST00000381423.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	0					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACTGCCAAGTGATGGATCATG	0.572000													18	62					1.45105e-14	4.43623e-14	0.000743	1	0
BCMO1	53630	broad.mit.edu	37	16	81298334	81298334	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:81298334C>T	ENST00000258168.2	+	5	1022	c.561C>T	c.(559-561)tcC>tcT	p.S187S	BCMO1_ENST00000425577.2_Silent_p.S118S	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	187					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGGGCACATCCATTGTGGAAA	0.428000													10	38					0	0	0.000978	0	0
CTNND2	1501	broad.mit.edu	37	5	11397213	11397213	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:11397213C>G	ENST00000304623.8	-	6	731	c.542G>C	c.(541-543)gGg>gCg	p.G181A	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.G181A|CTNND2_ENST00000511377.1_Missense_Mutation_p.G90A|CTNND2_ENST00000503622.1_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	181					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTGGTTTCCCCCAGGGCCAG	0.607000													24	65					0	0	0.003954	0	0
IGSF1	3547	broad.mit.edu	37	X	130408088	130408088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:130408088C>A	ENST00000370904.1	-	25	4727	c.3817G>T	c.(3817-3819)Gag>Tag	p.E1273*	IGSF1_ENST00000361420.3_Nonsense_Mutation_p.E1282*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E1287*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.E1273*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1282					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TTCTTCCACTCTATGGCTAGC	0.502000													120	84					2.28331e-34	7.65243e-34	0.003610	1	0
DHRS2	10202	broad.mit.edu	37	14	24108495	24108495	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:24108495A>G	ENST00000250383.6	+	3	724	c.248A>G	c.(247-249)gAg>gGg	p.E83G	DHRS2_ENST00000344777.7_Missense_Mutation_p.E83G|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	61					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGCAGGGGGAGGGGCTGAGT	0.687000													3	90					0	0	0.004672	0	0
PROL1	58503	broad.mit.edu	37	4	71275379	71275379	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:71275379T>C	ENST00000399575.2	+	3	508	c.334T>C	c.(334-336)Tac>Cac	p.Y112H	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	112	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACTAAGACCTTACTATGTAGG	0.393000													48	135					0	0	0.003610	0	0
DCX	1641	broad.mit.edu	37	X	110576307	110576307	+	Silent	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:110576307A>T	ENST00000338081.3	-	4	1194	c.1023T>A	c.(1021-1023)gcT>gcA	p.A341A	DCX_ENST00000356915.2_Silent_p.A260A|DCX_ENST00000488120.1_Silent_p.A260A|DCX_ENST00000356220.3_Silent_p.A260A|DCX_ENST00000371993.2_Silent_p.A260A|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	341	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AATCATCCTGAGCATAGCGAA	0.393000													8	5					0	0	0.004482	0	0
MRS2	57380	broad.mit.edu	37	6	24423169	24423169	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:24423169A>G	ENST00000378386.3	+	10	1205	c.1112A>G	c.(1111-1113)cAt>cGt	p.H371R	MRS2_ENST00000543597.1_Missense_Mutation_p.H80R|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.H321R|MRS2_ENST00000443868.2_Missense_Mutation_p.H374R|MRS2_ENST00000378353.1_Missense_Mutation_p.H371R	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	371					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTTTAGGACCATAGAATTTTT	0.438000													40	58					0	0	0.001287	0	0
KCNN4	3783	broad.mit.edu	37	19	44271786	44271786	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:44271786G>A	ENST00000262888.3	-	8	1588	c.1193C>T	c.(1192-1194)aCg>aTg	p.T398M		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	398					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CCCCGCCAGCGTGTCAATCTG	0.602000													33	31					0	0	0.002445	0	0
KDR	3791	broad.mit.edu	37	4	55964304	55964304	+	Splice_Site	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:55964304C>A	ENST00000263923.4	-	17	2804	c.2509_splice	c.e17+1	p.G837_splice		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	837	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GAAAATGCACCTAGCTTCAGC	0.423000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			7	66					5.4927e-09	1.54374e-08	0.004482	1	0
BRINP3	339479	broad.mit.edu	37	1	190423907	190423907	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:190423907C>T	ENST00000367462.3	-	2	345	c.114G>A	c.(112-114)caG>caA	p.Q38Q	FAM5C_ENST00000534846.1_5'UTR|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		38						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTGTGGCATGCTGATCCGAAA	0.517000													13	31					0	0	0.002450	0	0
KCNH2	3757	broad.mit.edu	37	7	150647315	150647315	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:150647315T>A	ENST00000392968.2	-	7	3171	c.2051A>T	c.(2050-2052)tAc>tTc	p.Y684F	KCNH2_ENST00000330883.4_Missense_Mutation_p.Y440F|KCNH2_ENST00000262186.5_Missense_Mutation_p.Y780F|KCNH2_ENST00000430723.3_Missense_Mutation_p.Y780F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	780					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGAGATGAAGTACAGGGCGGT	0.652000													12	128					0	0	0.000978	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3678550	3678550	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:3678550G>A	ENST00000344754.4	-	8	2016	c.2017C>T	c.(2017-2019)Cgt>Tgt	p.R673C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R673C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	673	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ATCTCCACACGCAGCAAGTTG	0.612000													10	50					0	0	0.000673	0	0
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													3	73					0	0	0.004672	0	0
CILP	8483	broad.mit.edu	37	15	65491007	65491007	+	Silent	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:65491007G>C	ENST00000261883.4	-	9	1783	c.1617C>G	c.(1615-1617)ctC>ctG	p.L539L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	539					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCACAAATGTGAGCACCAGCC	0.522000													14	65					0	0	0.003163	0	0
STK36	27148	broad.mit.edu	37	2	219543985	219543985	+	Splice_Site	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:219543985G>T	ENST00000295709.3	+	7	1057		c.e7+1		STK36_ENST00000440309.1_Splice_Site|STK36_ENST00000392105.3_Splice_Site|STK36_ENST00000392106.2_Splice_Site	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36						cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CATGTCACCAGTGAGTCATCA	0.507000													16	84					2.23348e-06	5.84647e-06	0.004007	1	0
COL22A1	169044	broad.mit.edu	37	8	139728521	139728521	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:139728521G>T	ENST00000303045.6	-	29	2858	c.2412C>A	c.(2410-2412)ggC>ggA	p.G804G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G804G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	804	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCCTGGGAGGCCTGCTTCTC	0.587000										HNSCC(7;0.00092)			3	12					6.4e-05	0.000160738	0.004672	1	0
CD300A	11314	broad.mit.edu	37	17	72469713	72469713	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:72469713C>A	ENST00000360141.3	+	2	367	c.79C>A	c.(79-81)Ccc>Acc	p.P27T	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	27	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CGTGGCGGGCCCCGTGGGGGG	0.562000													19	89					1.15919e-05	2.96648e-05	0.001216	1	0
RPH3A	22895	broad.mit.edu	37	12	113314582	113314582	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:113314582C>A	ENST00000389385.4	+	13	1579	c.1082C>A	c.(1081-1083)gCa>gAa	p.A361E	RPH3A_ENST00000447659.2_Missense_Mutation_p.A312E|RPH3A_ENST00000415485.3_Missense_Mutation_p.A361E|RPH3A_ENST00000551052.1_Missense_Mutation_p.A357E|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.A361E|RPH3A_ENST00000420983.2_Missense_Mutation_p.A361E|RPH3A_ENST00000548866.1_Missense_Mutation_p.A312E	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	361	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAAGCATCTGCAGCTGCCCCC	0.642000													8	49					0.000274275	0.000671848	0.004482	1	0
OR51Q1	390061	broad.mit.edu	37	11	5443979	5443979	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:5443979C>A	ENST00000300778.4	+	1	639	c.549C>A	c.(547-549)caC>caA	p.H183Q	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGCCTCCACCAGGATATGA	0.512000													51	168					2.74695e-27	9.01766e-27	0.003610	1	0
SGCZ	137868	broad.mit.edu	37	8	13948034	13948034	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:13948034C>G	ENST00000382080.1	-	8	1572	c.857G>C	c.(856-858)tGc>tCc	p.C286S	SGCZ_ENST00000421524.2_Missense_Mutation_p.C239S	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	273					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.C286F(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GCCATTGGGGCAGACGCAGAG	0.498000													15	69					0	0	0.000566	0	0
HMGCS1	3157	broad.mit.edu	37	5	43295957	43295957	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:43295957A>T	ENST00000325110.6	-	6	1008	c.802T>A	c.(802-804)Tgt>Agt	p.C268S	HMGCS1_ENST00000433297.2_Missense_Mutation_p.C268S	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	268					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ACCAGTTTACAATATGGTGAG	0.353000													11	55					0	0	0.000673	0	0
NTRK3	4916	broad.mit.edu	37	15	88472442	88472442	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:88472442A>T	ENST00000394480.1	-	17	2434	c.2113T>A	c.(2113-2115)Tac>Aac	p.Y705N	NTRK3_ENST00000558676.1_Missense_Mutation_p.Y697N|NTRK3_ENST00000557856.1_Missense_Mutation_p.Y697N|NTRK3_ENST00000542733.2_Missense_Mutation_p.Y607N|NTRK3_ENST00000357724.2_Missense_Mutation_p.Y697N|NTRK3_ENST00000360948.2_Missense_Mutation_p.Y705N|NTRK3_ENST00000355254.2_Missense_Mutation_p.Y705N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	705	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCGTGCTGTAGACATCTCTG	0.517000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			29	126					0	0	0.002096	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397303	5397303	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr18:5397303G>T	ENST00000341928.2	-	18	2935	c.2595C>A	c.(2593-2595)caC>caA	p.H865Q	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.H696Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.H643Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.H643Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.H865Q|EPB41L3_ENST00000542146.1_Missense_Mutation_p.H170Q|EPB41L3_ENST00000427684.2_Missense_Mutation_p.H162Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	865	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCCCACTCGCGTGCACCACAC	0.617000													29	41					7.68411e-24	2.50202e-23	0.001512	1	0
TRAV3	28690	broad.mit.edu	37	14	22192489	22192489	+	RNA	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:22192489G>T	ENST00000390425.2	+	0	440																											AATTTAACAAGAGCCAAACCT	0.493000													13	69					7.03913e-09	1.96458e-08	0.001368	1	0
MAP3K10	4294	broad.mit.edu	37	19	40710471	40710471	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:40710471G>A	ENST00000253055.3	+	3	1231	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	315	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGCGTATGGCGTGGCTATGAA	0.682000													7	41					0	0	0.003080	0	0
SIN3B	23309	broad.mit.edu	37	19	16977356	16977356	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:16977356G>T	ENST00000379803.1	+	13	1905	c.1891G>T	c.(1891-1893)Gtc>Ttc	p.V631F	SIN3B_ENST00000595541.1_Missense_Mutation_p.V189F|SIN3B_ENST00000248054.5_Missense_Mutation_p.V599F	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	631					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GATCGAGAGCGTCTACGACGA	0.622000													29	20					2.65835e-16	8.35033e-16	0.001271	1	0
WDR90	197335	broad.mit.edu	37	16	715788	715788	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:715788A>G	ENST00000549091.1	+	35	4519	c.4427A>G	c.(4426-4428)cAg>cGg	p.Q1476R	WDR90_ENST00000315764.4_Missense_Mutation_p.Q73R|WDR90_ENST00000293879.4_Missense_Mutation_p.Q1474R|WDR90_ENST00000547944.1_Missense_Mutation_p.Q73R|WDR90_ENST00000547543.1_3'UTR	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1474										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ATCCAGTTCCAGGTGCTGAAC	0.701000													3	29					0	0	0.000248	0	0
FREM2	341640	broad.mit.edu	37	13	39435695	39435695	+	Silent	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:39435695A>T	ENST00000280481.7	+	15	7863	c.7647A>T	c.(7645-7647)atA>atT	p.I2549I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2549					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCCACACATAGATGGTAGGT	0.423000													21	67					0	0	0.003330	0	0
ADCY3	109	broad.mit.edu	37	2	25048966	25048966	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:25048966A>T	ENST00000260600.5	-	15	3376	c.2525T>A	c.(2524-2526)aTg>aAg	p.M842K	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Missense_Mutation_p.M429K	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	842					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATCACCGTCATAGAGTACTT	0.612000													7	29					0	0	0.001984	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745488	135745488	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:135745488T>A	ENST00000375845.3	-	7	984	c.954A>T	c.(952-954)aaA>aaT	p.K318N	MAP3K19_ENST00000392915.1_Missense_Mutation_p.K335N|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.K205N	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TGATTTCAATTTTGTTACATT	0.403000													21	47					0	0	0.001216	0	0
CHD2	1106	broad.mit.edu	37	15	93540258	93540258	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:93540258A>G	ENST00000394196.4	+	29	4735	c.3667A>G	c.(3667-3669)Atc>Gtc	p.I1223V	CHD2_ENST00000557381.1_Missense_Mutation_p.I1223V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1223					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAAATCCATTATCCAACATGA	0.378000													3	36					0	0	0.004672	0	0
ASAP1	50807	broad.mit.edu	37	8	131070203	131070203	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:131070203C>A	ENST00000357668.1	-	28	3339	c.3312G>T	c.(3310-3312)tgG>tgT	p.W1104C	ASAP1_ENST00000518721.1_Missense_Mutation_p.W1104C			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	1104	SH3.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TACGTACCCACCACTCCTGGT	0.512000													68	94					6.20995e-33	2.04698e-32	0.003610	1	0
UNC13C	440279	broad.mit.edu	37	15	54306702	54306702	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:54306702C>T	ENST00000545554.1	+	1	1602	c.1602C>T	c.(1600-1602)ctC>ctT	p.L534L	UNC13C_ENST00000260323.11_Silent_p.L534L|UNC13C_ENST00000537900.1_Silent_p.L534L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	534					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAACACCTCTCTGGCACTCAC	0.358000													7	61					0	0	0.003080	0	0
GMIP	51291	broad.mit.edu	37	19	19753398	19753398	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:19753398C>G	ENST00000203556.4	-	2	187	c.50G>C	c.(49-51)aGg>aCg	p.R17T	GMIP_ENST00000445806.2_Missense_Mutation_p.R17T|GMIP_ENST00000587238.1_Missense_Mutation_p.R17T	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	17					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTCACTGTACCTCTTCCTGCC	0.592000													89	64					0	0	0.003610	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24896427	24896427	+	Splice_Site	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:24896427C>T	ENST00000396432.2	-	11	3171		c.e11+1		ARHGAP21_ENST00000493154.1_Splice_Site|ARHGAP21_ENST00000320481.6_Splice_Site	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21						signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCGAGACTTACAATTTTGCAT	0.388000													7	73					0	0	0.001984	0	0
KIF14	9928	broad.mit.edu	37	1	200522870	200522870	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:200522870G>A	ENST00000367350.4	-	30	5031	c.4593C>T	c.(4591-4593)ctC>ctT	p.L1531L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1531	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CACAAGTCTGGAGAAGATTTA	0.383000													15	54					0	0	0.000958	0	0
EOMES	8320	broad.mit.edu	37	3	27760106	27760106	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:27760106C>T	ENST00000295743.4	-	5	1554	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	EOMES_ENST00000449599.1_Missense_Mutation_p.A451T|EOMES_ENST00000537516.1_Missense_Mutation_p.A156T			O95936	EOMES_HUMAN	eomesodermin	451					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			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AAGCCTTTTGCAAAGGGGTTA	0.403000													10	37					0	0	0.000673	0	0
ACTR6	64431	broad.mit.edu	37	12	100603865	100603865	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:100603865G>T	ENST00000188312.2	+	5	1159	c.394G>T	c.(394-396)Gca>Tca	p.A132S	ACTR6_ENST00000552376.1_Missense_Mutation_p.A132S|ACTR6_ENST00000551617.1_Missense_Mutation_p.A50S|ACTR6_ENST00000546902.1_Missense_Mutation_p.A50S	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	132						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						GGCTCTCAGTGCACATAGGTA	0.308000													8	56					5.18039e-06	1.35163e-05	0.003080	1	0
TJP2	9414	broad.mit.edu	37	9	71866155	71866155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:71866155G>T	ENST00000377245.4	+	21	3404	c.3196G>T	c.(3196-3198)Gag>Tag	p.E1066*	TJP2_ENST00000453658.2_Intron|TJP2_ENST00000539225.1_Nonsense_Mutation_p.E1097*|TJP2_ENST00000535702.1_Nonsense_Mutation_p.E1033*|TJP2_ENST00000348208.4_Intron	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1066					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGAGGTGGGAGAGAGCAGTGA	0.502000													17	35					8.60227e-14	2.60016e-13	0.004007	1	0
DPP10	57628	broad.mit.edu	37	2	116535404	116535404	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:116535404T>A	ENST00000410059.1	+	15	1835	c.1355T>A	c.(1354-1356)cTg>cAg	p.L452Q	DPP10_ENST00000310323.8_Missense_Mutation_p.L445Q|DPP10_ENST00000393147.2_Missense_Mutation_p.L456Q|DPP10_ENST00000409163.1_Missense_Mutation_p.L402Q	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	452					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGAAGGCAGCTGTACAGGTAA	0.403000													7	62					0	0	0.001984	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347844	38347844	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:38347844C>G	ENST00000273173.4	+	1	418	c.327C>G	c.(325-327)caC>caG	p.H109Q	SLC22A14_ENST00000448498.1_Missense_Mutation_p.H109Q	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	109						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TGGGCCCCCACCTGTCCAAAG	0.532000													35	53					0	0	0.003271	0	0
ASPM	259266	broad.mit.edu	37	1	197071613	197071613	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:197071613T>A	ENST00000367409.4	-	18	7024	c.6768A>T	c.(6766-6768)agA>agT	p.R2256S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2256	IQ 20.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTAAATGTCTTCTAGCTTTCT	0.348000													25	127					0	0	0.000878	0	0
TBC1D28	254272	broad.mit.edu	37	17	18542504	18542504	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:18542504C>G	ENST00000345096.4	-	5	881	c.182G>C	c.(181-183)aGt>aCt	p.S61T	TBC1D28_ENST00000405044.1_Missense_Mutation_p.S61T			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	61						intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						CTCCAGGGCACTGACGCGGGG	0.652000													20	31					0	0	0.004656	0	0
MUC17	140453	broad.mit.edu	37	7	100681963	100681963	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:100681963T>C	ENST00000306151.4	+	3	7330	c.7266T>C	c.(7264-7266)gtT>gtC	p.V2422V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2422	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTCCTGTTGACACCAGCA	0.512000													6	1107					0	0	0.000602	0	0
ACTG2	72	broad.mit.edu	37	2	74128460	74128460	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:74128460G>A	ENST00000409624.1	+	3	665	c.22G>A	c.(22-24)Gcg>Acg	p.A8T	ACTG2_ENST00000409918.1_Missense_Mutation_p.A8T|ACTG2_ENST00000409731.3_Missense_Mutation_p.A8T|ACTG2_ENST00000345517.3_Missense_Mutation_p.A8T			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	8					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GGAGACCACCGCGCTCGTGTG	0.607000													10	42					0	0	0.000978	0	0
PYGO1	26108	broad.mit.edu	37	15	55838897	55838897	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:55838897A>T	ENST00000302000.6	-	3	678	c.584T>A	c.(583-585)gTt>gAt	p.V195D	PYGO1_ENST00000563719.1_Missense_Mutation_p.V195D	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	195	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GGGGTTAGAAACTTGGCTAGC	0.348000													23	48					0	0	0.001882	0	0
RASGRF1	5923	broad.mit.edu	37	15	79382664	79382664	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:79382664G>A	ENST00000419573.3	-	1	451	c.177C>T	c.(175-177)agC>agT	p.S59S	RASGRF1_ENST00000558480.2_Silent_p.S59S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	59	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGGCCGCGAGCTCGAGTCGC	0.637000													8	102					0	0	0.004482	0	0
CSMD3	114788	broad.mit.edu	37	8	113301698	113301698	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:113301698G>T	ENST00000297405.5	-	57	9288	c.9044C>A	c.(9043-9045)tCt>tAt	p.S3015Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.S2846Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2945Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2975Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3015	Sushi 21.					integral to membrane|plasma membrane		p.S2975F(1)|p.S3015F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGAACAGTAGACCCAAAAGT	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	67					6.33239e-15	1.95839e-14	0.001523	1	0
PPFIA2	8499	broad.mit.edu	37	12	81719651	81719651	+	Splice_Site	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:81719651T>A	ENST00000550584.2	-	21	2844		c.e21-2		PPFIA2_ENST00000333447.7_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2											NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TAAAGCCTCCTGTGAAGAGAA	0.423000													3	25					0	0	0.000248	0	0
VAV3	10451	broad.mit.edu	37	1	108247231	108247231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:108247231G>A	ENST00000370056.4	-	17	1920	c.1646C>T	c.(1645-1647)gCg>gTg	p.A549V	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.A484V|VAV3_ENST00000527011.1_Missense_Mutation_p.A549V	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	549					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GTGTGCTCTCGCTCCACACTT	0.358000													19	26					0	0	0.001882	0	0
F5	2153	broad.mit.edu	37	1	169512317	169512317	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:169512317T>C	ENST00000367796.3	-	13	2227	c.2026A>G	c.(2026-2028)Aga>Gga	p.R676G	F5_ENST00000367797.3_Missense_Mutation_p.R671G			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	671	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTTTGCTTCTTGGACTAGAA	0.383000													19	52					0	0	0.000958	0	0
ABHD5	51099	broad.mit.edu	37	3	43743731	43743731	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:43743731A>C	ENST00000458276.2	+	3	281	c.158A>C	c.(157-159)gAa>gCa	p.E53A		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	53					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TACAAAAAAGAACCTGTTCGT	0.338000													20	24					0	0	0.001216	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508752	37508752	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:37508752A>T	ENST00000374660.1	+	40	4400	c.4301A>T	c.(4300-4302)gAg>gTg	p.E1434V	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1315V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1315V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGAAAAATGAGGAGATATTT	0.274000													5	12					0	0	0.000602	0	0
F13B	2165	broad.mit.edu	37	1	197024991	197024991	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:197024991A>T	ENST00000367412.1	-	8	1251	c.1208T>A	c.(1207-1209)aTg>aAg	p.M403K		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	403	Sushi 7.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AGCCCCATTCATTACAACAGG	0.343000													4	56					0	0	0.000248	0	0
HSF2BP	11077	broad.mit.edu	37	21	45050217	45050217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr21:45050217G>A	ENST00000291560.2	-	6	891	c.560C>T	c.(559-561)gCt>gTt	p.A187V	HSF2BP_ENST00000542962.1_Missense_Mutation_p.A112V	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	187					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GACAATTCCAGCCAGAGCGAA	0.463000													3	30					0	0	0.004672	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000361570.3_Silent_p.L165L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			42	19					0	0	0.001706	0	0
MLLT4	4301	broad.mit.edu	37	6	168344628	168344628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:168344628G>A	ENST00000366806.2	+	26	3368	c.3226G>A	c.(3226-3228)Gaa>Aaa	p.E1076K	MLLT4_ENST00000392112.1_Missense_Mutation_p.E1059K|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000392108.3_Missense_Mutation_p.E1076K|MLLT4_ENST00000351017.4_Missense_Mutation_p.E1083K|MLLT4_ENST00000447894.2_Missense_Mutation_p.E1076K|MLLT4_ENST00000344191.4_Missense_Mutation_p.E1076K|MLLT4_ENST00000400822.3_Missense_Mutation_p.E1075K			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1076	PDZ.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TAGGGCGGCAGAACTCATGAC	0.478000			T	MLL	AL								25	38					0	0	0.000878	0	0
TRANK1	9881	broad.mit.edu	37	3	36898414	36898414	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:36898414C>A	ENST00000301807.6	-	12	2914	c.1017G>T	c.(1015-1017)cgG>cgT	p.R339R	TRANK1_ENST00000428977.2_Silent_p.R339R|TRANK1_ENST00000429976.2_Silent_p.R889R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	889					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGTGTAGATCCGCCCTGATT	0.522000													11	7					0.000673444	0.00161506	0.000673	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762801	92762801	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:92762801T>C	ENST00000318238.4	-	5	3700	c.2484A>G	c.(2482-2484)cgA>cgG	p.R828R	SAMD9L_ENST00000437805.1_Silent_p.R828R|SAMD9L_ENST00000411955.1_Silent_p.R828R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	828										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTTCATATCGCAAATCCT	0.358000													93	58					0	0	0.003610	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916167	97916167	+	RNA	SNP	A	A	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:97916167A>C	ENST00000534948.1	+	0	945							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GATAGTTGATAGGTCGGCACC	0.279000													11	49					0	0	0.000978	0	0
TP53	7157	broad.mit.edu	37	17	7577508	7577508	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:7577508T>G	ENST00000420246.2	-	7	905	c.773A>C	c.(772-774)gAa>gCa	p.E258A	TP53_ENST00000413465.2_Missense_Mutation_p.E258A|TP53_ENST00000455263.2_Missense_Mutation_p.E258A|TP53_ENST00000445888.2_Missense_Mutation_p.E258A|TP53_ENST00000269305.4_Missense_Mutation_p.E258A|TP53_ENST00000359597.4_Missense_Mutation_p.E258A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	258	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E258G(8)|p.E258V(5)|p.E258A(5)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.E258L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTGGAGTCTTCCAGTGTGAT	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	29					0	0	0.002450	0	0
IQCD	115811	broad.mit.edu	37	12	113645284	113645284	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:113645284C>T	ENST00000546692.1	-	2	1061	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	IQCD_ENST00000416617.2_Missense_Mutation_p.E230K|IQCD_ENST00000299732.2_Missense_Mutation_p.E230K			Q96DY2	IQCD_HUMAN	IQ motif containing D	230										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AATTCCTTTTCAAGAGTATCA	0.383000													5	56					0	0	0.001168	0	0
CYBB	1536	broad.mit.edu	37	X	37651299	37651299	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:37651299T>C	ENST00000378588.4	+	4	391	c.324T>C	c.(322-324)atT>atC	p.I108I	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Silent_p.I76I	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	108	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CATGGATGATTGCACTTCACT	0.383000													5	12					0	0	0.000602	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62820836	62820836	+	RNA	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:62820836C>A	ENST00000582986.1	-	0	188					NR_024386.1																						GGCCTCAGCTCGGATGTGCTT	0.577000													13	26					4.3838e-07	1.18629e-06	0.001855	1	0
NUP93	9688	broad.mit.edu	37	16	56865903	56865903	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:56865903A>T	ENST00000564887.1	+	9	1495	c.866A>T	c.(865-867)gAt>gTt	p.D289V	NUP93_ENST00000308159.5_Missense_Mutation_p.D412V|NUP93_ENST00000569842.1_Missense_Mutation_p.D412V|NUP93_ENST00000542526.1_Missense_Mutation_p.D289V	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	412					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AAAACTGAGGATTACCTGTGG	0.502000													17	94					0	0	0.000743	0	0
RNF215	200312	broad.mit.edu	37	22	30782669	30782669	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:30782669G>A	ENST00000382363.3	-	2	439	c.365C>T	c.(364-366)gCc>gTc	p.A122V		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	122						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						GTGGAACTGGGCCGCCTGCTC	0.637000													16	71					0	0	0.000743	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968311	102968311	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:102968311A>C	ENST00000233954.1	+	11	1872	c.1601A>C	c.(1600-1602)cAa>cCa	p.Q534P		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	534	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTGAGGTACCAAATGCCTGTG	0.488000													15	91					0	0	0.004007	0	0
CALN1	83698	broad.mit.edu	37	7	71571178	71571178	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:71571178C>T	ENST00000395275.2	-	4	734	c.346G>A	c.(346-348)Gag>Aag	p.E116K	CALN1_ENST00000405452.2_Missense_Mutation_p.E74K|CALN1_ENST00000395276.2_Missense_Mutation_p.E74K|CALN1_ENST00000431984.1_Missense_Mutation_p.E74K|CALN1_ENST00000329008.5_Missense_Mutation_p.E74K|CALN1_ENST00000412588.1_Missense_Mutation_p.E116K	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	74						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AGCTCCACCTCGCTTGGCATG	0.597000													4	44					0	0	0.000248	0	0
ANKRD12	23253	broad.mit.edu	37	18	9256148	9256148	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr18:9256148G>A	ENST00000383440.2	+	8	3071	c.2814G>A	c.(2812-2814)aaG>aaA	p.K938K	ANKRD12_ENST00000400020.3_Silent_p.K938K|ANKRD12_ENST00000262126.3_Silent_p.K961K	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	961						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TAGATAAAAAGGAAAAATCTA	0.284000													4	19					0	0	0.000248	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684370	80684370	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:80684370G>T	ENST00000269373.6	+	5	556	c.483G>T	c.(481-483)caG>caT	p.Q161H	FN3KRP_ENST00000535965.1_Missense_Mutation_p.Q111H	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	161							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ATGACTGGCAGGAGGACTGGG	0.557000													98	207					1.12176e-53	3.77535e-53	0.003610	1	0
NEURL1	9148	broad.mit.edu	37	10	105349976	105349976	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:105349976C>T	ENST00000369780.4	+	6	1981	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	NEURL_ENST00000369777.2_Silent_p.C507C|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		524					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCACCATTTGCTATGAACACG	0.632000													14	75					0	0	0.003163	0	0
MGAM	8972	broad.mit.edu	37	7	141794549	141794549	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:141794549G>T	ENST00000475668.2	+	63	7398	c.7344G>T	c.(7342-7344)acG>acT	p.T2448T	MGAM_ENST00000549489.2_Silent_p.T1552T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1552					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTTTCAGACGGGAGCAGATA	0.473000													8	46					1.06961e-07	2.94419e-07	0.003080	1	0
PCDHB8	56128	broad.mit.edu	37	5	140559200	140559200	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:140559200G>C	ENST00000239444.2	+	1	1830	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		529	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCGTTCGAGTTCCGGGT	0.677000													54	255					0	0	0.003610	0	0
TJP2	9414	broad.mit.edu	37	9	71845073	71845073	+	Silent	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:71845073G>C	ENST00000377245.4	+	11	1804	c.1596G>C	c.(1594-1596)ggG>ggC	p.G532G	TJP2_ENST00000453658.2_Silent_p.G509G|TJP2_ENST00000265384.7_Silent_p.G532G|TJP2_ENST00000539225.1_Silent_p.G563G|TJP2_ENST00000535702.1_Silent_p.G536G|TJP2_ENST00000348208.4_Silent_p.G532G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	532	PDZ 3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ATGATGTCGGGATATTTGTTG	0.517000													40	67					0	0	0.001287	0	0
SAMD9	54809	broad.mit.edu	37	7	92733867	92733867	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:92733867C>A	ENST00000379958.2	-	3	1813	c.1544G>T	c.(1543-1545)aGa>aTa	p.R515I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	515						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCTCTTTCTCTTTGCCAGGA	0.388000													15	156					1.3612e-06	3.61034e-06	0.003163	1	0
REM1	28954	broad.mit.edu	37	20	30070276	30070276	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:30070276G>A	ENST00000201979.2	+	4	903	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	204					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCGCTGCCGAGAAGTCTCTGT	0.617000													11	46					0	0	0.000978	0	0
ZNF257	113835	broad.mit.edu	37	19	22271543	22271543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:22271543C>T	ENST00000594947.1	+	4	1135	c.991C>T	c.(991-993)Ctt>Ttt	p.L331F		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTCCTCAGCCCTTACTCGACA	0.423000													23	41					0	0	0.002780	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83411200	83411200	+	Splice_Site	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:83411200C>A	ENST00000262752.2	-	3	149		c.e3-1		RPS6KA6_ENST00000543399.1_Splice_Site	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6						axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTCCTTCATCCTGTAAAAAGA	0.358000													5	6					0.00116845	0.00278549	0.001168	1	0
GREB1	9687	broad.mit.edu	37	2	11696796	11696796	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:11696796A>G	ENST00000381486.2	+	2	356	c.56A>G	c.(55-57)cAc>cGc	p.H19R	GREB1_ENST00000389825.3_Intron|GREB1_ENST00000234142.5_Missense_Mutation_p.H19R|GREB1_ENST00000263834.5_Missense_Mutation_p.H19R|GREB1_ENST00000381483.2_Missense_Mutation_p.H19R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	19						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAGGTCTTGCACAATTCCATC	0.512000													31	69					0	0	0.002445	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177580	89177580	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:89177580C>A	ENST00000561129.2	+	1	626	c.496C>A	c.(496-498)Cag>Aag	p.Q166K	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.Q166K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	166						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCCAAAGGGCCAGATGTCAAG	0.592000													11	21					6.40141e-05	0.000160738	0.000978	1	0
LINC00202-2	731789	broad.mit.edu	37	10	26939503	26939503	+	RNA	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:26939503C>A	ENST00000544033.1	+	0	5436					NR_026794.1																						TGGCACCACCCAGCCCAATGG	0.468000													19	118					2.39187e-15	7.42593e-15	0.001216	1	0
TDRD6	221400	broad.mit.edu	37	6	46660541	46660541	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:46660541C>A	ENST00000544460.1	+	1	4930	c.4676C>A	c.(4675-4677)gCa>gAa	p.A1559E	TDRD6_ENST00000316081.6_Missense_Mutation_p.A1559E	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1559					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAACAGGTAGCAGACAGGAGA	0.388000													6	47					1.06961e-07	2.94419e-07	0.003080	1	0
PTPN3	5774	broad.mit.edu	37	9	112189263	112189263	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:112189263T>G	ENST00000412145.1	-	7	3128	c.575A>C	c.(574-576)cAg>cCg	p.Q192P	PTPN3_ENST00000374541.2_Missense_Mutation_p.Q323P|PTPN3_ENST00000262539.3_Missense_Mutation_p.Q214P|PTPN3_ENST00000446349.1_Missense_Mutation_p.Q192P	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	323	FERM.				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			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						AGTCCAGTACTGAGACAGAAC	0.438000													37	43					0	0	0.001111	0	0
KIN	22944	broad.mit.edu	37	10	7808047	7808047	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:7808047C>G	ENST00000379562.3	-	9	865	c.818G>C	c.(817-819)aGa>aCa	p.R273T	KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Missense_Mutation_p.R273T|KIN_ENST00000543003.1_Missense_Mutation_p.R167T			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	273					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TCGGGCAGTTCTTTTCTTTTC	0.328000													6	42					0	0	0.001984	0	0
PGAP1	80055	broad.mit.edu	37	2	197711732	197711732	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:197711732C>G	ENST00000354764.3	-	22	2259	c.2145G>C	c.(2143-2145)ttG>ttC	p.L715F		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	715					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TTTACCTTTTCAAAGCTAGCC	0.333000													10	22					0	0	0.000443	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874864	117874864	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:117874864G>A	ENST00000357099.4	+	4	637	c.464G>A	c.(463-465)gGt>gAt	p.G155D	ANKRD7_ENST00000417525.1_Missense_Mutation_p.G82D|ANKRD7_ENST00000265224.4_Missense_Mutation_p.G135D|ANKRD7_ENST00000433239.1_Missense_Mutation_p.G82D|ANKRD7_ENST00000477532.1_3'UTR			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	135					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GCTGTTTGTGGTCAAAGTTTG	0.333000													24	43					0	0	0.002299	0	0
TET1	80312	broad.mit.edu	37	10	70450631	70450631	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:70450631G>T	ENST00000373644.4	+	12	5680	c.5471G>T	c.(5470-5472)aGt>aTt	p.S1824I		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1824					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATCTTAAAAAGTTCAGACAAC	0.453000													14	68					9.31168e-06	2.40602e-05	0.001855	1	0
BCORL1	63035	broad.mit.edu	37	X	129154964	129154964	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:129154964G>T	ENST00000540052.1	+	4	3490	c.3446G>T	c.(3445-3447)cGg>cTg	p.R1149L	BCORL1_ENST00000218147.7_Missense_Mutation_p.R1149L|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1149L|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1149L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1149					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				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						CCACAGTGCCGGAAGCTGCCC	0.552000													41	16					8.01111e-26	2.61914e-25	0.002522	1	0
GPR149	344758	broad.mit.edu	37	3	154138924	154138924	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:154138924T>A	ENST00000389740.2	-	3	1626	c.1527A>T	c.(1525-1527)gaA>gaT	p.E509D		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	509						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTCTGGCCCTTCAGAAAAGG	0.413000													105	98					0	0	0.003610	0	0
NLRP12	91662	broad.mit.edu	37	19	54313633	54313633	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:54313633G>T	ENST00000324134.6	-	3	1448	c.1280C>A	c.(1279-1281)aCg>aAg	p.T427K	NLRP12_ENST00000351894.4_Missense_Mutation_p.T427K|NLRP12_ENST00000391772.1_Missense_Mutation_p.T427K|NLRP12_ENST00000391773.1_Missense_Mutation_p.T427K|NLRP12_ENST00000391775.3_Missense_Mutation_p.T427K|NLRP12_ENST00000345770.5_Missense_Mutation_p.T427K|NLRP12_ENST00000354278.3_Missense_Mutation_p.T427K|NLRP12_ENST00000535162.1_Missense_Mutation_p.T427K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	427	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTCCTGGACGTCTGTCTCAA	0.642000													59	96					3.53049e-34	1.16856e-33	0.003610	1	0
ADAM2	2515	broad.mit.edu	37	8	39682379	39682379	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:39682379T>C	ENST00000265708.4	-	4	329	c.226A>G	c.(226-228)Agt>Ggt	p.S76G	ADAM2_ENST00000521880.1_Missense_Mutation_p.S76G|ADAM2_ENST00000347580.4_Missense_Mutation_p.S76G|ADAM2_ENST00000379853.2_Missense_Mutation_p.S76G|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	76					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCTGTGCCACTATAACTGTAA	0.274000													8	30					0	0	0.000443	0	0
ADSL	158	broad.mit.edu	37	22	40760320	40760320	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:40760320C>T	ENST00000216194.7	+	11	1198	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	ADSL_ENST00000342312.6_Missense_Mutation_p.A381V|ADSL_ENST00000454266.2_Missense_Mutation_p.A395V	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	381					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	p.A381V(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CCTTTCATGGCCACAGAGAAC	0.478000													6	38					0	0	0.001984	0	0
KERA	11081	broad.mit.edu	37	12	91449952	91449952	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:91449952G>C	ENST00000266719.3	-	2	354	c.107C>G	c.(106-108)aCt>aGt	p.T36S		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	36	LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTCATGAATAGTCCAATCATC	0.408000													5	40					0	0	0.000602	0	0
FAT1	2195	broad.mit.edu	37	4	187522436	187522436	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:187522436T>C	ENST00000441802.2	-	21	11836	c.11627A>G	c.(11626-11628)tAt>tGt	p.Y3876C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3876	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAAGATGCTATAGTCAGTTCC	0.388000										HNSCC(5;0.00058)			3	27					0	0	0.004672	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													3	107					0	0	0.004672	0	0
HAO1	54363	broad.mit.edu	37	20	7875861	7875861	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:7875861G>T	ENST00000378789.3	-	5	783	c.732C>A	c.(730-732)gcC>gcA	p.A244A		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	244	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGCCTCCCTGGCATCATCAC	0.512000													11	70					0.00010058	0.000248656	0.001368	1	0
MMP20	9313	broad.mit.edu	37	11	102477389	102477389	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:102477389A>G	ENST00000260228.2	-	6	842	c.830T>C	c.(829-831)cTg>cCg	p.L277P	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	277					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GGGCTTCCCCAGGAATACTTT	0.532000													16	64					0	0	0.000566	0	0
NELL1	4745	broad.mit.edu	37	11	21135210	21135210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:21135210G>T	ENST00000298925.5	+	14	1613	c.1460G>T	c.(1459-1461)cGc>cTc	p.R487L	NELL1_ENST00000357134.5_Missense_Mutation_p.R459L|NELL1_ENST00000325319.5_Missense_Mutation_p.R402L|NELL1_ENST00000532434.1_Missense_Mutation_p.R459L			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	459	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGTTATATCGCTGTGACTGT	0.398000													35	82					7.11191e-15	2.19101e-14	0.002836	1	0
LIPC	3990	broad.mit.edu	37	15	58724316	58724316	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:58724316C>G	ENST00000414170.3	+	2	372	c.85C>G	c.(85-87)Cca>Gca	p.P29A	LIPC_ENST00000433326.2_Missense_Mutation_p.P29A|LIPC_ENST00000299022.5_Missense_Mutation_p.P29A|LIPC_ENST00000356113.6_Missense_Mutation_p.P29A			P11150	LIPC_HUMAN	lipase, hepatic	29					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AAGCCTGAAACCAGGTAAGAG	0.448000													16	76					0	0	0.000566	0	0
CXorf66	347487	broad.mit.edu	37	X	139038574	139038574	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:139038574T>C	ENST00000370540.1	-	3	590	c.567A>G	c.(565-567)gaA>gaG	p.E189E		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	189						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TACATAATTTTTCTAGGCTGC	0.413000													25	125					0	0	0.002780	0	0
INSM2	84684	broad.mit.edu	37	14	36003680	36003680	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:36003680G>T	ENST00000307169.3	+	1	433	c.222G>T	c.(220-222)ggG>ggT	p.G74G		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		AACAGTCGGGGTCGCCATGTC	0.781000													9	4					0.000442599	0.00107431	0.000443	1	0
RNF213	57674	broad.mit.edu	37	17	78360548	78360548	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:78360548C>T	ENST00000582970.1	+	63	14922	c.14779C>T	c.(14779-14781)Cgg>Tgg	p.R4927W	RNF213_ENST00000336301.6_Missense_Mutation_p.R3000W|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4976W	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGAAGTGGAGCGGGACCTGAC	0.572000													35	36					0	0	0.003755	0	0
EPX	8288	broad.mit.edu	37	17	56271376	56271376	+	Missense_Mutation	SNP	G	G	C	rs150719520		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:56271376G>C	ENST00000225371.5	+	5	627	c.517G>C	c.(517-519)Gcc>Ccc	p.A173P		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	173					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CTGGCTGCCCGCCGAGTATGA	0.652000													13	51					0	0	0.003163	0	0
AGBL1	123624	broad.mit.edu	37	15	86940669	86940669	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:86940669G>T	ENST00000441037.2	+	17	2404	c.2309G>T	c.(2308-2310)gGt>gTt	p.G770V	AGBL1_ENST00000421325.2_Missense_Mutation_p.G770V|AGBL1_ENST00000389298.3_Missense_Mutation_p.G501V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	770					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GTGATGAAGGGTACCTTGGAG	0.483000													21	73					4.35082e-09	1.24911e-08	0.001523	1	0
PROX1	5629	broad.mit.edu	37	1	214171271	214171271	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:214171271C>A	ENST00000366958.4	+	2	2001	c.1393C>A	c.(1393-1395)Cac>Aac	p.H465N	PROX1_ENST00000261454.4_Missense_Mutation_p.H465N|PROX1_ENST00000498508.2_Missense_Mutation_p.H465N|PROX1_ENST00000435016.1_Missense_Mutation_p.H465N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	465					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCAGCCCCTGCACCAGTCGCC	0.632000													15	144					7.93312e-07	2.11814e-06	0.002450	1	0
ASPH	444	broad.mit.edu	37	8	62438587	62438587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:62438587C>T	ENST00000541428.1	-	22	1922	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	ASPH_ENST00000379454.4_Missense_Mutation_p.E617K	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	617					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTCAGGTTTTCATCCTCAGGC	0.483000													47	113					0	0	0.003610	0	0
NDST3	9348	broad.mit.edu	37	4	119148127	119148127	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:119148127C>A	ENST00000296499.5	+	8	2212	c.1809C>A	c.(1807-1809)ccC>ccA	p.P603P	NDST3_ENST00000433996.2_Silent_p.P522P	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	603	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TAATAGGACCCCAGAAAACTG	0.368000													12	70					0.000978159	0.00233882	0.000978	1	0
SEC31B	25956	broad.mit.edu	37	10	102267289	102267289	+	Silent	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:102267289T>A	ENST00000370345.3	-	7	772	c.675A>T	c.(673-675)atA>atT	p.I225I	NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000370329.5_Silent_p.I228I|SEC31B_ENST00000451524.1_Silent_p.I225I|SEC31B_ENST00000535773.1_Silent_p.I68I|NDUFB8_ENST00000557395.1_3'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	225					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACTGGGTGGCTATGTCAGGAT	0.557000													18	58					0	0	0.000743	0	0
GTDC1	79712	broad.mit.edu	37	2	144903281	144903281	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:144903281T>A	ENST00000409214.1	-	5	483	c.205A>T	c.(205-207)Aac>Tac	p.N69Y	GTDC1_ENST00000409298.1_Missense_Mutation_p.N69Y|GTDC1_ENST00000542155.1_Missense_Mutation_p.N69Y|GTDC1_ENST00000241391.5_Missense_Mutation_p.N69Y|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000344850.4_Missense_Mutation_p.N69Y|GTDC1_ENST00000392867.3_Missense_Mutation_p.N69Y|GTDC1_ENST00000392869.1_Missense_Mutation_p.N69Y	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	69					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TCGGTCAGGTTAAGCACTGAA	0.438000													22	64					0	0	0.003954	0	0
LGALS14	56891	broad.mit.edu	37	19	40197266	40197266	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:40197266T>C	ENST00000392052.3	+	2	268	c.45T>C	c.(43-45)ccT>ccC	p.P15P	LGALS14_ENST00000360675.3_Silent_p.P44P	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	15	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TTTCCTTGCCTGTTGGTTCGT	0.498000													66	131					0	0	0.003610	0	0
MGST3	4259	broad.mit.edu	37	1	165624685	165624685	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:165624685C>A	ENST00000367889.3	+	6	843	c.403C>A	c.(403-405)Cag>Aag	p.Q135K	MGST3_ENST00000367883.1_Missense_Mutation_p.Q149K|MGST3_ENST00000367886.2_Missense_Mutation_p.Q149K|MGST3_ENST00000367888.4_Intron|MGST3_ENST00000404549.1_Missense_Mutation_p.Q149K|MGST3_ENST00000367885.1_Missense_Mutation_p.Q149K|MGST3_ENST00000367884.1_Missense_Mutation_p.Q135K	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	135					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	CTCTGCTTTCCAGCATCTTGG	0.473000													12	34					0.00010058	0.000248656	0.001368	1	0
PDE5A	8654	broad.mit.edu	37	4	120446754	120446754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:120446754G>A	ENST00000354960.3	-	12	2048	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000394439.1_Missense_Mutation_p.R525W|PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	577					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.R577W(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTAAACATCCGAATTGTACAC	0.448000													25	42					0	0	0.003330	0	0
PIWIL1	9271	broad.mit.edu	37	12	130827590	130827590	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:130827590A>T	ENST00000245255.3	+	3	406	c.134A>T	c.(133-135)gAa>gTa	p.E45V		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	45					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCAGAGGGGGAATTATTTGGC	0.473000													6	31					0	0	0.001168	0	0
OR2T11	127077	broad.mit.edu	37	1	248789867	248789867	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:248789867T>A	ENST00000330803.2	-	1	624	c.563A>T	c.(562-564)gAc>gTc	p.D188V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAGGACGTGTCTGCACAGGC	0.478000													32	30					0	0	0.002836	0	0
PRKG2	5593	broad.mit.edu	37	4	82061705	82061705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:82061705C>G	ENST00000395578.1	-	12	1642	c.1526G>C	c.(1525-1527)tGc>tCc	p.C509S	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.C480S|PRKG2_ENST00000264399.1_Missense_Mutation_p.C509S|PRKG2_ENST00000545647.1_Missense_Mutation_p.C89S			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	509	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GAATGGAGAGCACAGCTCCTC	0.373000													11	77					0	0	0.002450	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242004	87242004	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:87242004A>G	ENST00000297524.3	-	1	606	c.503T>C	c.(502-504)gTg>gCg	p.V168A	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.V168A	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	168						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AAGTATGGACACTTTCAGCAC	0.418000													17	72					0	0	0.004007	0	0
SLC7A8	23428	broad.mit.edu	37	14	23609700	23609700	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:23609700C>T	ENST00000316902.7	-	5	1493	c.768G>A	c.(766-768)gaG>gaA	p.E256E	SLC7A8_ENST00000469263.1_Silent_p.E256E|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000529705.2_Silent_p.E151E|SLC7A8_ENST00000453702.1_Silent_p.E53E	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	256					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CAACAAGCTCCTCAGTCACGT	0.532000													22	146					0	0	0.001882	0	0
ABCC8	6833	broad.mit.edu	37	11	17428485	17428485	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:17428485C>T	ENST00000302539.4	-	25	3240	c.3115G>A	c.(3115-3117)Gac>Aac	p.D1039N	ABCC8_ENST00000389817.3_Missense_Mutation_p.D1038N	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1038	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGGCGCTGTCGGTCCACTTG	0.652000													27	78					0	0	0.004656	0	0
LCE3A	353142	broad.mit.edu	37	1	152595358	152595358	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152595358C>T	ENST00000335674.1	-	1	221	c.222G>A	c.(220-222)caG>caA	p.Q74Q		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	74					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCGCCTTGCTGACCACTTC	0.567000													15	108					0	0	0.000743	0	0
ANKRD44	91526	broad.mit.edu	37	2	197866545	197866545	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:197866545C>T	ENST00000328737.2	-	22	2368	c.2292G>A	c.(2290-2292)gaG>gaA	p.E764E	ANKRD44_ENST00000337207.5_Silent_p.E764E|ANKRD44_ENST00000282272.8_Silent_p.E781E|ANKRD44_ENST00000450567.1_Silent_p.E764E			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	789							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCAAAAGTACCTCTATACAGT	0.333000													14	50					0	0	0.003163	0	0
ZNF524	147807	broad.mit.edu	37	19	56114033	56114033	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:56114033G>A	ENST00000591046.1	+	1	789	c.555G>A	c.(553-555)ctG>ctA	p.L185L	ZNF524_ENST00000301073.3_Silent_p.L185L			Q96C55	ZN524_HUMAN	zinc finger protein 524	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGGCGAGCTGGCGCACCACC	0.736000													10	13					0	0	0.001855	0	0
ZNF502	91392	broad.mit.edu	37	3	44762721	44762721	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:44762721G>T	ENST00000296091.4	+	4	668	c.412G>T	c.(412-414)Gat>Tat	p.D138Y	ZNF502_ENST00000436624.2_Missense_Mutation_p.D138Y|ZNF502_ENST00000449836.1_Missense_Mutation_p.D138Y	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACAAACCAATGATATTTCAGA	0.388000													7	41					1.12685e-05	2.89297e-05	0.004482	1	0
SLC25A21	89874	broad.mit.edu	37	14	37283178	37283178	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:37283178G>T	ENST00000331299.5	-	3	663	c.148C>A	c.(148-150)Cca>Aca	p.P50T	RP11-81F13.2_ENST00000557642.1_RNA|SLC25A21_ENST00000555449.1_Missense_Mutation_p.P50T	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	50					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TAACTGTTTGGATCGGTTGCA	0.313000													8	58					0.000274275	0.000671848	0.004482	1	0
MED24	9862	broad.mit.edu	37	17	38179592	38179592	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:38179592G>T	ENST00000394126.1	-	19	2535	c.2117C>A	c.(2116-2118)aCa>aAa	p.T706K	MED24_ENST00000394128.2_Missense_Mutation_p.T681K|MED24_ENST00000501516.3_Missense_Mutation_p.T700K|MED24_ENST00000394127.2_Missense_Mutation_p.T668K|MED24_ENST00000356271.3_Missense_Mutation_p.T668K			O75448	MED24_HUMAN	mediator complex subunit 24	681					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CTGCGTGGCTGTCTGCTGCAG	0.612000													16	33					1.02788e-11	3.04939e-11	0.000566	1	0
C10orf71	118461	broad.mit.edu	37	10	50532083	50532083	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:50532083G>C	ENST00000374144.3	+	3	1781	c.1493G>C	c.(1492-1494)aGc>aCc	p.S498T	C10orf71_ENST00000323868.4_Missense_Mutation_p.S498T			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	498										endometrium(1)	1						AAAGCCCCTAGCCTGCTGTTC	0.512000													4	20					0	0	0.000248	0	0
MARS2	92935	broad.mit.edu	37	2	198570156	198570156	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:198570156G>T	ENST00000282276.6	+	1	70	c.27G>T	c.(25-27)ctG>ctT	p.L9L	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	9					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TCCTCCGCCTGCTAGGACGCA	0.662000													8	63					2.74318e-10	8.0193e-10	0.000443	1	0
FRY	10129	broad.mit.edu	37	13	32812117	32812117	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:32812117G>T	ENST00000380250.3	+	44	6908	c.6412G>T	c.(6412-6414)Gct>Tct	p.A2138S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCATCCCACGCTATTGGTAA	0.458000													16	74					6.94344e-10	2.00783e-09	0.000743	1	0
OR4C46	119749	broad.mit.edu	37	11	51515649	51515649	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:51515649C>A	ENST00000328188.1	+	1	368	c.368C>A	c.(367-369)gCc>gAc	p.A123D		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CACTATGTGGCCATCTGCAAG	0.478000													33	112					1.62565e-12	4.84068e-12	0.002445	1	0
NSMCE4A	54780	broad.mit.edu	37	10	123730454	123730454	+	Splice_Site	SNP	T	T	A	rs139294636	byFrequency	TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:123730454T>A	ENST00000538652.1	-	3	661	c.24_splice	c.e3+1	p.L8_splice	NSMCE4A_ENST00000369023.3_Splice_Site_p.L167_splice|NSMCE4A_ENST00000489266.1_5'UTR|NSMCE4A_ENST00000369017.5_Splice_Site_p.L167_splice			Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	167										breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TTGAACTTACTAGAGTTTCAA	0.358000													5	19					0	0	0.000602	0	0
MCCC2	64087	broad.mit.edu	37	5	70952610	70952610	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:70952610C>T	ENST00000340941.6	+	17	1744	c.1615C>T	c.(1615-1617)Ctg>Ttg	p.L539L	MCCC2_ENST00000323375.8_Silent_p.L501L	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	539	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGACACCAGACTGGTCTTGGG	0.413000													37	74					0	0	0.001111	0	0
KMT2D	8085	broad.mit.edu	37	12	49420184	49420184	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:49420184C>T	ENST00000301067.7	-	48	15564	c.15565G>A	c.(15565-15567)Gga>Aga	p.G5189R		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCAGCTGTCCGATGGCGTGG	0.592000													6	27					0	0	0.001984	0	0
PDE10A	10846	broad.mit.edu	37	6	165832125	165832125	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:165832125T>C	ENST00000366882.1	-	12	1120	c.966A>G	c.(964-966)atA>atG	p.I322M	PDE10A_ENST00000354448.4_Missense_Mutation_p.I322M|PDE10A_ENST00000539869.2_Missense_Mutation_p.I332M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	322	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGCTGTACCTTATCTCTTTGG	0.413000													19	29					0	0	0.000743	0	0
RBM41	55285	broad.mit.edu	37	X	106312633	106312633	+	Splice_Site	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:106312633C>G	ENST00000372487.1	-	6	954		c.e6-1		RBM41_ENST00000372479.3_Splice_Site	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41								nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						GGTATAATACCTAAAACAAAT	0.408000													37	65					0	0	0.004289	0	0
VCAN	1462	broad.mit.edu	37	5	82836553	82836553	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:82836553C>G	ENST00000265077.3	+	8	8296	c.7731C>G	c.(7729-7731)atC>atG	p.I2577M	VCAN_ENST00000343200.5_Missense_Mutation_p.I1590M|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2577	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAATACTATCATAGATATTG	0.358000													17	28					0	0	0.004007	0	0
TRPM6	140803	broad.mit.edu	37	9	77436731	77436731	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:77436731G>T	ENST00000451710.3	-	8	1101	c.864C>A	c.(862-864)gtC>gtA	p.V288V	TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Silent_p.V283V|TRPM6_ENST00000360774.1_Silent_p.V288V|TRPM6_ENST00000376864.4_Silent_p.V288V|TRPM6_ENST00000376871.3_Silent_p.V288V|TRPM6_ENST00000376872.3_Silent_p.V288V|TRPM6_ENST00000361255.3_Silent_p.V283V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	288					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCAGCCCCACGACCGGCACGC	0.572000													19	29					5.03518e-11	1.47736e-10	0.000958	1	0
LCP1	3936	broad.mit.edu	37	13	46726918	46726918	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:46726918C>T	ENST00000398576.2	-	10	1124	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	LCP1_ENST00000323076.2_Missense_Mutation_p.E246K			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	246	Actin-binding 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CTCTTACCTTCATTTCTGCTG	0.458000			T	BCL6	NHL								9	34					0	0	0.000443	0	0
FRAS1	80144	broad.mit.edu	37	4	79207678	79207678	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:79207678C>A	ENST00000264895.6	+	14	1959	c.1519C>A	c.(1519-1521)Cgc>Agc	p.R507S	FRAS1_ENST00000325942.6_Missense_Mutation_p.R507S|FRAS1_ENST00000264899.6_Missense_Mutation_p.R507S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	507					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTACCAAGATCGCCATTCCTG	0.622000													10	57					0.00010058	0.000248656	0.001368	1	0
OR4D10	390197	broad.mit.edu	37	11	59245073	59245073	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:59245073G>T	ENST00000530162.1	+	1	228	c.171G>T	c.(169-171)acG>acT	p.T57T		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTCACACGCCCATGTATT	0.433000													38	157					2.19358e-23	7.11359e-23	0.001111	1	0
SEMA3F	6405	broad.mit.edu	37	3	50225414	50225414	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:50225414A>T	ENST00000002829.3	+	19	2708	c.2224A>T	c.(2224-2226)Atc>Ttc	p.I742F	SEMA3F_ENST00000434342.1_Missense_Mutation_p.I711F|SEMA3F_ENST00000413852.1_Missense_Mutation_p.I643F	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	742					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AGTGGGCCTCATCCACCAGTA	0.687000													4	8					0	0	0.000248	0	0
AFF3	3899	broad.mit.edu	37	2	100210206	100210206	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:100210206C>T	ENST00000317233.4	-	14	2152	c.1917G>A	c.(1915-1917)aaG>aaA	p.K639K	AFF3_ENST00000409579.1_Silent_p.K664K|AFF3_ENST00000356421.2_Silent_p.K664K|AFF3_ENST00000409236.1_Silent_p.K639K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	639					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGCGCAGCTCCTTGCGGTGGC	0.662000													14	74					0	0	0.001855	0	0
FLG	2312	broad.mit.edu	37	1	152278933	152278933	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152278933C>A	ENST00000368799.1	-	3	8464	c.8429G>T	c.(8428-8430)gGa>gTa	p.G2810V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2810	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAGTGTCCAGAGCTATC	0.577000									Ichthyosis				67	499					1.77486e-58	6.024e-58	0.003610	1	0
NTM	50863	broad.mit.edu	37	11	132016211	132016211	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:132016211G>T	ENST00000374786.1	+	2	682	c.203G>T	c.(202-204)tGg>tTg	p.W68L	NTM_ENST00000374784.1_Missense_Mutation_p.W68L|NTM_ENST00000425719.2_Missense_Mutation_p.W68L|NTM_ENST00000427481.2_Missense_Mutation_p.W59L|NTM_ENST00000539799.1_Missense_Mutation_p.W68L|NTM_ENST00000374791.3_Missense_Mutation_p.W68L	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	68	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.W68L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CGGGTGGCCTGGCTAAACCGC	0.577000													13	40					7.93312e-07	2.11814e-06	0.002450	1	0
ESAM	90952	broad.mit.edu	37	11	124632034	124632034	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:124632034C>A	ENST00000278927.5	-	1	146	c.17G>T	c.(16-18)gGg>gTg	p.G6V	RP11-677M14.3_ENST00000504932.2_RNA|ESAM_ENST00000442070.2_Missense_Mutation_p.G6V	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	6					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CACCAGGGGCCCCGGGAGGGA	0.697000													5	19					3.59834e-05	9.09233e-05	0.001168	1	0
TMEM130	222865	broad.mit.edu	37	7	98449123	98449123	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:98449123C>T	ENST00000450876.1	-	6	1990	c.675G>A	c.(673-675)ggG>ggA	p.G225G	TMEM130_ENST00000345589.4_Silent_p.G207G|TMEM130_ENST00000339375.4_Silent_p.G309G|TMEM130_ENST00000546258.1_Silent_p.G290G|TMEM130_ENST00000416379.2_Silent_p.G309G			Q8N3G9	TM130_HUMAN	transmembrane protein 130	309	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCAGTAGTCCCCAGGGTCCC	0.592000													61	42					0	0	0.003610	0	0
C7orf60	154743	broad.mit.edu	37	7	112555359	112555359	+	Splice_Site	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:112555359A>G	ENST00000297145.4	-	2	468		c.e2+1		C7orf60_ENST00000485446.1_Splice_Site	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60											breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AAAAGTACTTACCTACAACAC	0.373000													32	52					0	0	0.003755	0	0
FMN2	56776	broad.mit.edu	37	1	240371752	240371752	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:240371752G>T	ENST00000319653.9	+	5	3870	c.3640G>T	c.(3640-3642)Ggt>Tgt	p.G1214C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1214	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCTTGCCAGGTATGGGGAT	0.647000													6	25					8.12818e-05	0.000203459	0.001984	1	0
BLM	641	broad.mit.edu	37	15	91304239	91304239	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:91304239G>C	ENST00000355112.3	+	7	1754	c.1636G>C	c.(1636-1638)Gaa>Caa	p.E546Q	BLM_ENST00000560509.1_Missense_Mutation_p.E546Q	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	546					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTTAGAAAGAGAAACCCAACC	0.338000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				6	72					0	0	0.003080	0	0
VAV1	7409	broad.mit.edu	37	19	6854109	6854109	+	Splice_Site	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:6854109G>T	ENST00000304076.2	+	25	2512	c.2418_splice	c.e25+1	p.R806_splice	VAV1_ENST00000539284.1_Splice_Site_p.R731_splice|VAV1_ENST00000602142.1_Splice_Site_p.R828_splice|VAV1_ENST00000596764.1_Splice_Site_p.R796_splice|VAV1_ENST00000599806.1_Splice_Site_p.R773_splice	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	828	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TCTATGGCCGGGTGAGGCAGG	0.622000													8	31					3.09899e-07	8.41453e-07	0.004482	1	0
SLC16A12	387700	broad.mit.edu	37	10	91193071	91193071	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:91193071T>A	ENST00000341233.4	-	8	1601	c.1211A>T	c.(1210-1212)gAt>gTt	p.D404V	SLC16A12_ENST00000371790.4_Missense_Mutation_p.D434V	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	404						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GCCGGTGGTATCTACCAGCCG	0.368000													8	31					0	0	0.004482	0	0
ATF6	22926	broad.mit.edu	37	1	161789450	161789450	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:161789450A>G	ENST00000367942.3	+	8	1004	c.937A>G	c.(937-939)Atg>Gtg	p.M313V		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	313					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ACAGCAACGTATGATAAAAAA	0.368000													4	54					0	0	0.000248	0	0
PTGFRN	5738	broad.mit.edu	37	1	117504234	117504234	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:117504234G>T	ENST00000393203.2	+	5	1730	c.1583G>T	c.(1582-1584)tGg>tTg	p.W528L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	528	Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AACAACAGCTGGGTGAAAAGC	0.413000													19	26					1.45105e-14	4.43623e-14	0.000743	1	0
ITGA8	8516	broad.mit.edu	37	10	15688977	15688977	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:15688977G>T	ENST00000378076.3	-	12	1428	c.1075C>A	c.(1075-1077)Caa>Aaa	p.Q359K		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	359					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGGTAGATTTGCCCTACTTCT	0.502000													18	101					5.03518e-11	1.47736e-10	0.000958	1	0
FN3KRP	79672	broad.mit.edu	37	17	80684371	80684371	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:80684371G>T	ENST00000269373.6	+	5	557	c.484G>T	c.(484-486)Gag>Tag	p.E162*	FN3KRP_ENST00000535965.1_Nonsense_Mutation_p.E112*	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	162							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TGACTGGCAGGAGGACTGGGT	0.562000													100	205					1.72158e-54	5.81852e-54	0.003610	1	0
DNAI1	27019	broad.mit.edu	37	9	34490414	34490414	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:34490414C>A	ENST00000242317.4	+	7	720	c.549C>A	c.(547-549)ccC>ccA	p.P183P	DNAI1_ENST00000488369.1_3'UTR	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	183					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CTAAGCAGCCCAAGGAGAGAA	0.498000									Kartagener syndrome				230	120					5.95591e-76	2.03008e-75	0.003610	1	0
KCNH1	3756	broad.mit.edu	37	1	211192294	211192294	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:211192294C>T	ENST00000367007.4	-	6	1032	c.863G>A	c.(862-864)cGc>cAc	p.R288H	KCNH1_ENST00000271751.4_Missense_Mutation_p.R288H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	288					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTAGTTCATGCGGATAAGTTT	0.448000													31	97					0	0	0.002445	0	0
PLXNA1	5361	broad.mit.edu	37	3	126747090	126747090	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:126747090G>T	ENST00000251772.4	+	24	4576	c.4507G>T	c.(4507-4509)Gac>Tac	p.D1503Y	PLXNA1_ENST00000393409.2_Missense_Mutation_p.D1526Y			Q9UIW2	PLXA1_HUMAN	plexin A1	1526					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCTGGACTGTGACACGGTCAC	0.657000													12	31					1.08611e-07	2.97936e-07	0.000978	1	0
MIOS	54468	broad.mit.edu	37	7	7622858	7622858	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:7622858G>A	ENST00000340080.4	+	6	1924	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K	MIOS_ENST00000405785.1_Silent_p.K501K|MIOS_ENST00000461907.2_3'UTR	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	501										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTGGATAAAGAAAGGAACGG	0.413000													6	84					0	0	0.001984	0	0
FCRL2	79368	broad.mit.edu	37	1	157740241	157740241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:157740241G>A	ENST00000361516.3	-	3	316	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	FCRL2_ENST00000392274.3_Missense_Mutation_p.L90F|FCRL2_ENST00000368181.4_Missense_Mutation_p.L90F	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	90	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTATCCCAGAGAAAGAGTTGT	0.403000													14	62					0	0	0.001855	0	0
REG3G	130120	broad.mit.edu	37	2	79254286	79254286	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:79254286G>T	ENST00000272324.5	+	4	506	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Missense_Mutation_p.D108Y	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	108	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGCTCCATGACCCCACACA	0.552000													25	88					6.32553e-13	1.89766e-12	0.004656	1	0
REG1A	5967	broad.mit.edu	37	2	79349170	79349170	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:79349170G>T	ENST00000233735.1	+	4	343	c.240G>T	c.(238-240)gaG>gaT	p.E80D		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	80	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCCAGGCCGAGGGTGCCTTTG	0.517000													31	106					1.55811e-20	4.99219e-20	0.001512	1	0
SPATA2L	124044	broad.mit.edu	37	16	89764695	89764695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:89764695C>T	ENST00000289805.5	-	3	390	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	SPATA2L_ENST00000335360.7_Missense_Mutation_p.V108M	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	108										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCACGTGCACGTAGCCCCCA	0.617000													25	252					0	0	0.001786	0	0
C14orf142	84520	broad.mit.edu	37	14	93673339	93673339	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:93673339T>A	ENST00000306954.4	-	1	100	c.44A>T	c.(43-45)cAg>cTg	p.Q15L	RP11-371E8.4_ENST00000557574.1_Intron|RP11-371E8.4_ENST00000557048.1_Intron	NM_032490.4	NP_115879.2	Q9BXV9	CN142_HUMAN	chromosome 14 open reading frame 142	15										endometrium(1)|skin(1)	2		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203)		CCGCAGCTTCTGCGGCTTCCC	0.622000											OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	61					0	0	0.002522	0	0
TTN	7273	broad.mit.edu	37	2	179598434	179598434	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:179598434G>A	ENST00000589042.1	-	53	15906	c.15682C>T	c.(15682-15684)Cct>Tct	p.P5228S	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P4911S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P3984S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4911	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAACATCAGGGATTATCAAG	0.413000													39	145					0	0	0.001111	0	0
NBPF1	55672	broad.mit.edu	37	1	16895686	16895686	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:16895686C>A	ENST00000430580.2	-	23	3383	c.2496G>T	c.(2494-2496)tgG>tgT	p.W832C	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	832	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AACCTTCATCCCAGGACTCCT	0.483000													8	343					0.000442599	0.00107431	0.000443	1	0
RNF213	57674	broad.mit.edu	37	17	78319512	78319512	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:78319512G>C	ENST00000582970.1	+	29	7520	c.7377G>C	c.(7375-7377)atG>atC	p.M2459I	RNF213_ENST00000336301.6_Missense_Mutation_p.M532I|RNF213_ENST00000508628.2_Missense_Mutation_p.M2508I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGCAGACATGATCTACTCCA	0.488000													17	106					0	0	0.000566	0	0
PARD3B	117583	broad.mit.edu	37	2	205989155	205989155	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:205989155G>A	ENST00000406610.2	+	9	1477	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	PARD3B_ENST00000358768.2_Missense_Mutation_p.D424N|PARD3B_ENST00000349953.3_Missense_Mutation_p.D424N|PARD3B_ENST00000462231.1_Missense_Mutation_p.D424N|PARD3B_ENST00000351153.1_Missense_Mutation_p.D424N	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	424	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGCAATAAAAGATGGCCGCCT	0.373000													22	59					0	0	0.001882	0	0
EHMT2	10919	broad.mit.edu	37	6	31864040	31864040	+	Splice_Site	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:31864040C>T	ENST00000395728.3	-	3	752	c.753_splice	c.e3+1	p.Q251_splice	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Splice_Site_p.Q194_splice|EHMT2_ENST00000375528.4_Splice_Site_p.Q251_splice|EHMT2_ENST00000375537.4_Splice_Site_p.Q194_splice			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	194					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCCCACTCACCTGTCCATTTC	0.512000													44	62					0	0	0.003214	0	0
EFTUD2	9343	broad.mit.edu	37	17	42930947	42930947	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:42930947G>T	ENST00000426333.2	-	24	2701	c.2404C>A	c.(2404-2406)Cac>Aac	p.H802N	EFTUD2_ENST00000591382.1_Missense_Mutation_p.H802N|EFTUD2_ENST00000402521.3_Missense_Mutation_p.H767N|EFTUD2_ENST00000592576.1_Missense_Mutation_p.H792N	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	802						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCGCCCCGGTGCAGGGGCTCC	0.592000													6	57					5.9392e-07	1.59641e-06	0.001168	1	0
DNM1	1759	broad.mit.edu	37	9	130988359	130988359	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:130988359A>G	ENST00000393594.3	+	10	1296	c.1242A>G	c.(1240-1242)aaA>aaG	p.K414K	DNM1_ENST00000486160.1_Silent_p.K414K|DNM1_ENST00000372923.3_Intron|DNM1_ENST00000475805.1_Silent_p.K414K|DNM1_ENST00000341179.7_Intron			Q05193	DYN1_HUMAN	dynamin 1	414					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CCACAGTGAAAAAGCAGGTGC	0.562000													9	32					0	0	0.000443	0	0
HBD	3045	broad.mit.edu	37	11	5255583	5255583	+	Missense_Mutation	SNP	C	C	A	rs34289459		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:5255583C>A	ENST00000380299.3	-	1	295	c.81G>T	c.(79-81)gaG>gaT	p.E27D	HBD_ENST00000292901.3_Missense_Mutation_p.E27D	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	27			E -> D (in Puglia; dbSNP:rs34289459).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCCAGGGCCTCACCACCAA	0.517000													28	67					3.80469e-20	1.20935e-19	0.001786	1	0
PCDHB13	56123	broad.mit.edu	37	5	140594219	140594219	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:140594219C>G	ENST00000341948.4	+	1	711	c.524C>G	c.(523-525)cCc>cGc	p.P175R		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		175	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAATCAGCCCCAACTCCTAT	0.493000													25	43					0	0	0.001061	0	0
USH2A	7399	broad.mit.edu	37	1	216258196	216258196	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:216258196C>A	ENST00000366943.2	-	25	5397	c.5011G>T	c.(5011-5013)Ggc>Tgc	p.G1671C	RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1671C|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1671	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGAGACAGCCCACAAAACCT	0.323000										HNSCC(13;0.011)			27	78					4.7796e-09	1.35761e-08	0.004656	1	0
RTN4	57142	broad.mit.edu	37	2	55252626	55252626	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:55252626T>A	ENST00000337526.6	-	3	2852	c.2609A>T	c.(2608-2610)gAg>gTg	p.E870V	RTN4_ENST00000357376.3_Missense_Mutation_p.E664V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.E664V|RTN4_ENST00000405240.1_Missense_Mutation_p.E664V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.E664V|RTN4_ENST00000354474.6_Missense_Mutation_p.E638V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	870					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TGTAGGGAACTCATCTATAAT	0.328000													8	51					0	0	0.003080	0	0
USP35	57558	broad.mit.edu	37	11	77920009	77920009	+	Splice_Site	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:77920009G>T	ENST00000529308.1	+	9	1853	c.1592_splice	c.e9+1	p.R531_splice	USP35_ENST00000530267.1_Splice_Site_p.R99_splice|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Splice_Site_p.R262_splice|USP35_ENST00000441408.2_Splice_Site_p.R117_splice	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	531					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTGCTGGATCGGTAAGGGGGC	0.602000													9	77					1.12685e-05	2.89297e-05	0.004482	1	0
CES2	8824	broad.mit.edu	37	16	66969362	66969362	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:66969362C>G	ENST00000317091.4	+	1	1000	c.16C>G	c.(16-18)Cgc>Ggc	p.R6G	CES2_ENST00000417689.1_Missense_Mutation_p.R6G	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	0				Missing (in Ref. 2; AA sequence).	catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TGCTCAGTCCCGCTCTCCTAC	0.647000													11	129					0	0	0.000978	0	0
ICAM1	3383	broad.mit.edu	37	19	10385697	10385697	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:10385697C>A	ENST00000264832.3	+	2	649	c.324C>A	c.(322-324)acC>acA	p.T108T	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	108					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCTTCCTCACCGTGTACTGTG	0.552000													22	104					3.62473e-10	1.05579e-09	0.001882	1	0
CYP11A1	1583	broad.mit.edu	37	15	74636273	74636273	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:74636273T>C	ENST00000358632.4	-	4	907	c.212A>G	c.(211-213)gAg>gGg	p.E71G	CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Missense_Mutation_p.E71G|CYP11A1_ENST00000268053.6_Missense_Mutation_p.E229G	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	229					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCGCTGGGCCTCGGGGTTCAC	0.572000													3	138					0	0	0.004672	0	0
AGO3	192669	broad.mit.edu	37	1	36509068	36509068	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:36509068delC	ENST00000373191.4	+	17	2542	c.2193delC	c.(2191-2193)atfs	p.I731fs	AGO3_ENST00000471099.1_3'UTR|AGO3_ENST00000246314.6_Frame_Shift_Del_p.I497fs	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		GTGGCAATATCCCAGCTGGAA	0.353													14	25	---	---	---	---					
CELSR2	1952	broad.mit.edu	37	1	109815846	109815858	+	Frame_Shift_Del	DEL	AGAGAGTAGTGGC	AGAGAGTAGTGGC	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:109815846_109815858delAGAGAGTAGTGGC	ENST00000271332.3	+	32	8458_8470	c.8397_8409delAGAGAGTAGTGGC	c.(8395-8409)aafs	p.KESSG2799fs	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2799					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCACAGCAAAAGAGAGTAGTGGCAACGGGGCCC	0.638													16	72	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152277899	152277899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152277899delG	ENST00000368799.1	-	3	9498	c.9463delC	c.(9463-9465)agfs	p.Q3155fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3155	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCTGACTGCCCACGGGAG	0.557									Ichthyosis				30	225	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152278871	152278871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152278871delG	ENST00000368799.1	-	3	8526	c.8491delC	c.(8491-8493)agfs	p.Q2831fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2831	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCTGACTGCCCACGGGAG	0.572									Ichthyosis				66	671	---	---	---	---					
C1orf186	440712	broad.mit.edu	37	1	206243246	206243247	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:206243246_206243247insG	ENST00000331555.5	-	3	653_654	c.15_16insC	c.(13-18)gttggafs	p.G6fs		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	6						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CAGACCTCCATGACTCTGTTGG	0.525													10	68	---	---	---	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10912735	10912738	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:10912735_10912738delAAGT	ENST00000381661.3	+	8	746_747	c.638_splice	c.e8+1	p.213_splice	ATP6V1C2_ENST00000272238.4_Splice_Site_p.213_splice	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	213					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCGATCAACCAAGTAAGTGAGACC	0.525													47	254	---	---	---	---					
APOB	338	broad.mit.edu	37	2	21231819	21231819	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:21231819delT	ENST00000233242.1	-	26	8048	c.7921delA	c.(7921-7923)tcfs	p.I2641fs		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2641					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.I2641L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGATGGGATTTTTATATTT	0.358													19	122	---	---	---	---					
LAMA4	3910	broad.mit.edu	37	6	112512959	112512959	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:112512959delA	ENST00000230538.7	-	6	994	c.597delT	c.(595-597)ttfs	p.F199fs	LAMA4_ENST00000389463.4_Frame_Shift_Del_p.F199fs|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Frame_Shift_Del_p.F199fs|LAMA4_ENST00000522006.1_Frame_Shift_Del_p.F199fs	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	199	Laminin EGF-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			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)		CACAATCTTCAAAGATCAGGT	0.483													11	34	---	---	---	---					
RELN	5649	broad.mit.edu	37	7	103126741	103126742	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:103126741_103126742insA	ENST00000428762.1	-	61	10044_10045	c.9885_9886insT	c.(9883-9888)tgggcafs	p.WA3295fs	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Frame_Shift_Ins_p.WA3295fs|RELN_ENST00000424685.2_Frame_Shift_Ins_p.WA3295fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3295					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCAGCTGCCCACAGCCACTTC	0.515													64	82	---	---	---	---					
FAM66B	100128890	broad.mit.edu	37	8	7196263	7196264	+	RNA	DEL	AC	AC	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703																											ACTGAGGGGTacacacacacac	0.500													4	3	---	---	---	---					
CELP	1057	broad.mit.edu	37	9	135962465	135962465	+	RNA	DEL	T	T	-	rs63239560		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:135962465delT	ENST00000411440.2	+	0	972					NR_001275.2																						AGGATGCCCCTGTGCCCCTCA	0.677													3	3	---	---	---	---					
TROAP	10024	broad.mit.edu	37	12	49722998	49722998	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:49722998delC	ENST00000551245.1	+	10	1186	c.1075delC	c.(1075-1077)ccfs	p.P359fs	TROAP_ENST00000547923.1_Frame_Shift_Del_p.P67fs|TROAP_ENST00000257909.3_Frame_Shift_Del_p.P359fs			Q12815	TROAP_HUMAN	trophinin associated protein	359					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCGGTTCACACCCATGCCATC	0.547													40	227	---	---	---	---					
FREM2	341640	broad.mit.edu	37	13	39343779	39343793	+	In_Frame_Del	DEL	AGTGCAGTTCAACCC	AGTGCAGTTCAACCC	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:39343779_39343793delAGTGCAGTTCAACCC	ENST00000280481.7	+	4	5691_5705	c.5475_5489delAGTGCAGTTCAACCC	c.(5473-5490)caa>ca	p.QVQFNP1825del		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1825	Calx-beta 1.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACAGAAACAAGTGCAGTTCAACCCAGGCCAGACC	0.479													8	46	---	---	---	---					
RILP	83547	broad.mit.edu	37	17	1552568	1552570	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:1552568_1552570delCCT	ENST00000301336.6	-	3	625_627	c.353_355delAGG	c.(352-357)gtc>g	p.EV118del		NM_031430.2	NP_113618.2	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	118					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGGTCCGTGACCTCCTTGAGCTG	0.764													4	3	---	---	---	---					
RAD51C	5889	broad.mit.edu	37	17	56772501	56772501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:56772501delA	ENST00000337432.4	+	2	426	c.355delA	c.(355-357)aafs	p.K119fs	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000421782.2_Frame_Shift_Del_p.K119fs|RAD51C_ENST00000583539.1_Frame_Shift_Del_p.K119fs	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	119					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCCTTAATGAAAACAACAGA	0.398								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				15	30	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)gaafs	p.E591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													7	330	---	---	---	---					
